CCT5 c.715A>G ;(p.M239V)

Variant ID: 5-10258407-A-G

NM_012073.3(CCT5):c.715A>G;(p.M239V)

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:

Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.

Npj Genomic Medicine
Sakaguchi, Narumi N; Suyama, Mikita M
Publication Date: 2022-03-18

Variant appearance in text: CCT5: 715A>G; Met239Val; rs372629115
PubMed Link: 35304488
Variant Present in the following documents:
  • 41525_2022_294_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page