LOVD - Variant listings for RB1

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Patient data (#0002463)
Patient ID Case No. 12
Phenotype other cancer
Mut. origin somatic
Tissue tumor
Template RNA
tumor-genotype unknown
family history unknown
Reference Miyomoto et al. (1995) Br J Cancer. 1995 Apr;71(4):831-5.
# Reported 1
Published published
Remarks bladder cancer

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.56867A>G
cDNA change c.622A>G   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Exon 07_ex
RNA change -
Protein p.Met208Val
RBWiki [Met208Val]
expected consequence type missense
DB-ID RB1_01399
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.56867A>G c.622A>G Substitution 07_ex - p.Met208Val [Met208Val] missense RB1_01399 -

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