RB1 c.1194A>C ;(p.E398D)

Variant ID: 13-48947607-A-C

NM_000321.2(RB1):c.1194A>C;(p.E398D)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Genetic screening in Iranian patients with retinoblastoma.

Eye (London, England)
Shahraki, K K; Ahani, A A; Sharma, P P; Faranoush, M M; Bahoush, G G; Torktaz, I I; Gahl, W A WA; Naseripour, M M; Behnam, B B
Publication Date: 2017-04

Variant appearance in text: RB1: E398D
PubMed Link: 27983729
Variant Present in the following documents:
  • Main text
View BVdb publication page