BBS2 c.1495G>T ;(p.V499F)

Variant ID: 16-56533722-C-A

NM_031885.3(BBS2):c.1495G>T;(p.V499F)

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:

Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

Investigative Ophthalmology & Visual Science
Chen, Jianjun J; Smaoui, Nizar N; Hammer, Monia Ben Hamed MB; Jiao, Xiaodong X; Riazuddin, S Amer SA; Harper, Shyana S; Katsanis, Nicholas N; Riazuddin, Sheikh S; Chaabouni, Habiba H; Berson, Eliot L EL; Hejtmancik, J Fielding JF
Publication Date: 2011-07-18

Variant appearance in text: BBS: 1495G>T
PubMed Link: 21642631
Variant Present in the following documents:
  • Main text
View BVdb publication page