BBS7 c.1668T>A ;(p.S556R)

Variant ID: 4-122754394-A-T

NM_176824.2(BBS7):c.1668T>A;(p.S556R)

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 mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.

Molecular Vision
Yang, Zhenglin Z; Yang, Yang Y; Zhao, Peiquan P; Chen, Kechun K; Chen, Bin B; Lin, Ying Y; Guo, Fuqiang F; Chen, Yigong Y; Liu, Xiaoqi X; Lu, Fang F; Shi, Yi Y; Zhang, Dingding D; Liao, Shihuang S; Xia, Qingyou Q
Publication Date: 2008

Variant appearance in text: BBS7: S556R
PubMed Link: 19093007
Variant Present in the following documents:
  • Main text
  • mv-v14-2304.pdf
View BVdb publication page