F2 c.421G>C ;(p.E141Q)

Variant ID: 11-46744834-G-C

NM_000506.3(F2):c.421G>C;(p.E141Q)

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:

A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families.

Neural Plasticity
Wang, Xueling X; Wang, Longhao L; Peng, Hu H; Yang, Tao T; Wu, Hao H
Publication Date: 2018

Variant appearance in text: F2: 421G>C
PubMed Link: 29849566
Variant Present in the following documents:
  • Main text
  • NP2018-7272308.pdf
View BVdb publication page