SI c.945A>T ;(p.R315S)

Variant ID: 3-164780234-T-A

NM_001041.3(SI):c.945A>T;(p.R315S)

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:

Identification of a novel mutation in CRYM in a Chinese family with hearing loss using whole-exome sequencing.

Experimental And Therapeutic Medicine
Wang, Min M; Li, Qian Q; Deng, Anchun A; Zhu, Xianbai X; Yang, Junjie J
Publication Date: 2020-08

Variant appearance in text: SI: 945A>T
PubMed Link: 32742378
Variant Present in the following documents:
  • Main text
  • etm-20-02-1447.pdf
View BVdb publication page