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LOVD - Variant listings for RB1

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?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - RB571 unilateral rb somatic retinoblastoma DNA - - Dunn et al., 1989 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - RB600 unilateral rb - retinoblastoma DNA - isolated Dunn et al., 1989 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E486T unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E489T unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E565 bilateral rb germline blood DNA - isolated Yilmaz et al., 1998 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E553T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - RB23 bilateral rb germline blood DNA - familial Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - RB29 unilateral rb germline retinoblastoma DNA homozygous - Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam482 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam31 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam251 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam339 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam63 unilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided unilateral rb somatic retinoblastoma DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E1487 bilateral rb germline nd DNA heterozygous familial Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E220 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E408 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided bilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided bilateral rb - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E2462 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E218 bilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E1324 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E3633 bilateral rb germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E4578 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided - - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E2481 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E3546 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided - germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E2869 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E5000 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided - - nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - E4114 unilateral rb somatic nd DNA hemi/homozygous not reported Lohmann - Essen 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam499 bilateral rb germline nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam717 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam503 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam693 unilateral rb germline nd DNA - familial not reported, BL Gallie - Toronto 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam750 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam745 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam867 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam370 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - Fam59 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - 7b bilateral rb germline blood DNA - isolated - 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - 39/98 bilateral rb germline blood DNA - isolated Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - 1163 unilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - 1223 unilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - 39 bilateral rb germline blood DNA - familial Sampieri et al. (2006) J Hum Genet 51: 209 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - RB20 bilateral rb germline retinoblastoma DNA heterozygous isolated de Andrade et al. (2006) Cancer Genet Cytogenet 167: 43 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - T28 unilateral rb - retinoblastoma DNA - isolated Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - F6444 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - F1771 rb germline blood DNA - familial Taylor et al. (2007) Hum Mutat 28: 284 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - 10 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - 11 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 - T9 bilateral rb germline blood DNA - - Zhang et al. (2008) Hum Mutat 29: 475 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 somatic S85665 other cancer somatic tumor DNA - - COSMIC -COSM1029,Pellin et al., 1997 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 germline Rb18 bilateral rb germline blood DNA - isolated Ata-ur-Rasheed et al. (2002) Ophthalmic Genet.(2):121-8. 1 published -
?/? g.70330G>A c.1215+1G>A substitution 12_in altered splicing - - splice RB1_00011 somatic #390 unilateral rb mosaicism blood DNA unknown isolated Renieri- Siena 1 unpublished -
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Legend: [ RB1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. g-position: Variation at DNA level according to GenBank accession number L11910 (NCBI Genbank) cDNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Type: Type of variant at DNA level. Exon: Exon numbering. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. RBWiki: RBWiki expected consequence type: expected consequence type at protein level, e.g. frameshift, missense RB1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. originated_in: data on the cell of origin, either germline or somatic (mosaic mutations are of somatic origin) Patient ID: Internal reference to the patient. Phenotype: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Mut. origin: Origin of mutation Tissue: Tissue type the variant was detected in. Template: Variant detected in DNA, RNA and/or Protein. tumor-genotype: Genotype of the tumor cells family history: Occurrence of the tumor in the family Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. # Reported: Number of times this case has been reported Published: Patient data is published in a paper

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