LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002728)
Patient ID S84207
Phenotype retinoblastoma
Mut. origin somatic
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM1045, Hogg et al, 1993
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.42029_42030delTTins
cDNA change c.484_485delTTins
Type Other/Complex
Exon 04_ex
RNA change -
Protein p.Phe162ProfsX13
RBWiki -
expected consequence type frameshift
DB-ID RB1_01527
originated_in somatic

1 entry in RB1

Path.
Allele Descending
Ascending
g-position Descending
Ascending
cDNA change Descending
Ascending
Type Descending
Ascending
Exon Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
RBWiki Descending
Ascending
expected consequence type Descending
Ascending
DB-ID Descending
Ascending
originated_in Descending
Ascending
?/? Unknown g.42029_42030delTTins c.484_485delTTins Other/Complex 04_ex - p.Phe162ProfsX13 - frameshift RB1_01527 somatic

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