LOVD - Variant listings for RB1

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Patient data (#0002659)
Patient ID Rb19
Phenotype unilateral rb
Mut. origin somatic
Tissue tumor
Template DNA
tumor-genotype -
family history isolated
Reference Ata-ur-Rasheed et al. (2002) Ophthalmic Genet.(2):121-8.
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.64372A>C
cDNA change c.982A>C   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 10_ex
RNA change -
Protein -
RBWiki -
expected consequence type missense
DB-ID RB1_01504
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.64372A>C c.982A>C Substitution 10_ex - - - missense RB1_01504 somatic

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