BBS7 c.895A>G ;(p.K299E)

Variant ID: 4-122770038-T-C

NM_176824.2(BBS7):c.895A>G;(p.K299E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Exome Sequencing of 21 Bardet-Biedl Syndrome (BBS) Genes to Identify Obesity Variants in 6,851 American Indians.

Obesity (Silver Spring, Md.)
Day, Samantha E SE; Muller, Yunhua L YL; Koroglu, Cigdem C; Kobes, Sayuko S; Wiedrich, Kim K; Mahkee, Darin D; Kim, Hye In HI; Van Hout, Cris C; Gosalia, Nehal N; Ye, Bin B; , ; Shuldiner, Alan R AR; Knowler, William C WC; Hanson, Robert L RL; Bogardus, Clifton C; Baier, Leslie J LJ
Publication Date: 2021-04

Variant appearance in text: BBS7: K299E
PubMed Link: 33616283
Variant Present in the following documents:
  • OBY-29-748-s001.xlsx, sheet 1
View BVdb publication page