BBS7 c.1395T>A ;(p.Y465*)

Variant ID: 4-122756415-A-T

NM_176824.2(BBS7):c.1395T>A;(p.Y465*)

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:

Ocular Characteristics of Patients With Bardet-Biedl Syndrome Caused by Pathogenic BBS Gene Variation in a Chinese Cohort.

Frontiers In Cell And Developmental Biology
Meng, Xiaohong X; Long, Yanling Y; Ren, Jiayun J; Wang, Gang G; Yin, Xin X; Li, Shiying S
Publication Date: 2021

Variant appearance in text: BBS7: 1395T>A; Y465*
PubMed Link: 33777945
Variant Present in the following documents:
  • Main text
  • fcell-09-635216.pdf
View BVdb publication page