LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002573)
Patient ID E2245
Phenotype unilateral rb
Mut. origin germline
Tissue tumor
Template DNA
tumor-genotype heterozygous
family history isolated
Reference Germany:Essen
# Reported 1
Published -
Remarks new germline mutation
Submitter Dietmar Lohmann

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.59678C>T
cDNA change c.746C>T   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 08_ex
RNA change -
Protein p.Ser249X
RBWiki -
expected consequence type nonsense
DB-ID RB1_00419
originated_in somatic

2 entries 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.56962_56964delinsA c.717_718+1delinsA complex 07_ex altered splicing - - splice RB1_00420 germline
?/? Unknown g.59678C>T c.746C>T substitution 08_ex - p.Ser249X - nonsense RB1_00419 somatic

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