BBS7 c.931T>G ;(p.S311A)

Variant ID: 4-122770002-A-C

NM_176824.2(BBS7):c.931T>G;(p.S311A)

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:

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Seo, Seongjin S; Baye, Lisa M LM; Schulz, Nathan P NP; Beck, John S JS; Zhang, Qihong Q; Slusarski, Diane C DC; Sheffield, Val C VC
Publication Date: 2010-01-26

Variant appearance in text: BBS7: S311A
PubMed Link: 20080638
Variant Present in the following documents:
  • Main text
View BVdb publication page