LOVD - Variant listings for RB1

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Patient data (#0002169)
Patient ID T27
Phenotype unilateral rb
Mut. origin -
Tissue retinoblastoma
Template DNA
tumor-genotype -
family history isolated
Reference Babenko et al. (2002) Mol Biol (Mosk) 36: 777
# Reported 1
Published published
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.45846T>C
cDNA change c.587T>C   (View in UCSC Genome Browser, Ensembl)
Type substitution
Exon 06_ex
RNA change -
Protein p.Ile196Thr
RBWiki Ile196Thr
expected consequence type unknown
DB-ID RB1_01323
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.45846T>C c.587T>C substitution 06_ex - p.Ile196Thr Ile196Thr unknown RB1_01323 -

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