BBS7 c.528+1G>A

Variant ID: 4-122780146-C-T

NM_176824.2(BBS7):c.528+1G>A

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:

Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7.

Molecular Syndromology
Suspitsin, Evgeny N EN; Sokolenko, Anna P AP; Lyazina, Lydia V LV; Preobrazhenskaya, Elena V EV; Lepenchuk, Alla Y AY; Imyanitov, Evgeny N EN
Publication Date: 2015-07

Variant appearance in text: BBS7: 528+1G>A
PubMed Link: 26557828
Variant Present in the following documents:
  • Main text
View BVdb publication page