BBS7 c.424C>G ;(p.L142V)

Variant ID: 4-122780251-G-C

NM_176824.2(BBS7):c.424C>G;(p.L142V)

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:

Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis.

Gut
Li, Jingyun J; Wang, Rui R; Zhou, Xin X; Wang, Wendong W; Gao, Shuai S; Mao, Yunuo Y; Wu, Xinglong X; Guo, Limei L; Liu, Haijing H; Wen, Lu L; Fu, Wei W; Tang, Fuchou F
Publication Date: 2020-07

Variant appearance in text: BBS7: Leu142Val
PubMed Link: 31744909
Variant Present in the following documents:
  • gutjnl-2019-319438supp006.xlsx, sheet 1
  • gutjnl-2019-319438supp006.xlsx, sheet 2
View BVdb publication page