TTN c.99782G>C ;(p.R33261P)

Variant ID: 2-179402152-C-G

NM_001267550.1(TTN):c.99782G>C;(p.R33261P)

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:

SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa.

Frontiers In Genetics
Chiereghin, Chiara C; Robusto, Michela M; Mauri, Lucia L; Primignani, Paola P; Castorina, Pierangela P; Ambrosetti, Umberto U; Duga, Stefano S; Asselta, Rosanna R; Soldà, Giulia G
Publication Date: 2021

Variant appearance in text: TTN: R33261P
PubMed Link: 33643381
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
  • Table_4.xlsx, sheet 1
View BVdb publication page