BBS2 c.1861A>T ;(p.I621F)

Variant ID: 16-56530928-T-A

NM_031885.3(BBS2):c.1861A>T;(p.I621F)

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:

Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.

European Journal Of Human Genetics : Ejhg
Pereiro, Ines I; Hoskins, Bethan E BE; Marshall, Jan D JD; Collin, Gayle B GB; Naggert, Jürgen K JK; Piñeiro-Gallego, Teresa T; Oitmaa, Eneli E; Katsanis, Nicholas N; Valverde, Diana D; Beales, Philip L PL
Publication Date: 2011-04

Variant appearance in text: BBS: 1861A>T
PubMed Link: 21157496
Variant Present in the following documents:
  • Main text
View BVdb publication page