BBS2 c.218A>G ;(p.Q73R)

Variant ID: 16-56548492-T-C

NM_031885.3(BBS2):c.218A>G;(p.Q73R)

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:

Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

Human Genetics
Janssen, Sabine S; Ramaswami, Gokul G; Davis, Erica E EE; Hurd, Toby T; Airik, Rannar R; Kasanuki, Jennifer M JM; Van Der Kraak, Lauren L; Allen, Susan J SJ; Beales, Philip L PL; Katsanis, Nicholas N; Otto, Edgar A EA; Hildebrandt, Friedhelm F
Publication Date: 2011-01

Variant appearance in text: BBS: 218A>G
PubMed Link: 21052717
Variant Present in the following documents:
  • Main text
View BVdb publication page