BBS7 c.1094A>T ;(p.Q365L)

Variant ID: 4-122766795-T-A

NM_176824.2(BBS7):c.1094A>T;(p.Q365L)

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:

Determinants of Advanced Bone Age in Childhood Obesity
.

Hormone Research In Paediatrics
de Groot, Cornelis J CJ; van den Berg, Adriaan A; Ballieux, Bart E P B BEPB; Kroon, Herman M HM; Rings, Edmond H H M EHHM; Wit, Jan M JM; van den Akker, Erica L T ELT
Publication Date: 2017

Variant appearance in text: BBS7: Gln365Leu
PubMed Link: 28365712
Variant Present in the following documents:
  • Main text
View BVdb publication page