BBS7 c.1967_1968delinsC ;(p.L656Pfs*18)

Variant ID: 4-122749347-TA-G

NM_176824.2(BBS7):c.1967_1968delinsC;(p.L656Pfs*18)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Bardet-Biedl Syndrome.

Molecular Syndromology
Suspitsin, Evgeny N EN; Imyanitov, Evgeny N EN
Publication Date: 2016-05

Variant appearance in text: BBS7: 1967_1968delTAinsC
PubMed Link: 27385962
Variant Present in the following documents:
  • Main text
View BVdb publication page


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: 1967_1968delTAinsC
PubMed Link: 26557828
Variant Present in the following documents:
  • Main text
View BVdb publication page