LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002130)
Patient ID 7
Phenotype bilateral rb
Mut. origin -
Tissue retinoblastoma
Template DNA
tumor-genotype -
family history -
Reference Van Orsouw et al. (1996) Hum Mol Genet 5: 755
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g.70304C>A
cDNA change c.1190C>A   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 12_ex
RNA change -
Protein p.Ser397X
RBWiki -
expected consequence type nonsense
DB-ID RB1_00291
originated_in -

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.70304C>A c.1190C>A substitution 12_ex - p.Ser397X - nonsense RB1_00291 -

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