LOVD - Variant listings for RB1

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Patient data (#0003340)
Patient ID Tab_1_11
Phenotype retinoblastoma
Mut. origin unknown
Tissue blood
Template DNA
tumor-genotype heterozygous
family history isolated
Reference Ming-yan He et al. 2014 Mol.vis.: 20:545-52
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
g-position g.78273G>A
cDNA change c.1689G>A   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 17_ex
RNA change -
Protein p.Trp563X
RBWiki -
expected consequence type nonsense
DB-ID RB1_01512
originated_in unknown

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.78273G>A c.1689G>A Substitution 17_ex - p.Trp563X - nonsense RB1_01512 unknown

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