LOVD - Variant listings for RB1

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Patient data (#0000532)
Patient ID Fam432
Phenotype bilateral rb
Mut. origin germline
Tissue nd
Template DNA
tumor-genotype -
family history not reported
Reference Richter et al. (2003) Am J Hum Genet 72(2): 253-69.
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Pathogenic
g-position g.59683C>T
cDNA change c.751C>T   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 08_ex
RNA change -
Protein p.Arg251X
RBWiki -
expected consequence type nonsense
DB-ID RB1_00062
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.59683C>T c.751C>T substitution 08_ex - p.Arg251X - nonsense RB1_00062 -

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