BBS7 c.335A>C ;(p.K112T)

Variant ID: 4-122782665-T-G

NM_176824.2(BBS7):c.335A>C;(p.K112T)

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:

Decoding Somatic Driver Gene Mutations and Affected Signaling Pathways in Human Medulloblastoma Subgroups.

Journal Of Cancer
Robbins, Charles J CJ; Bou-Dargham, Mayassa J MJ; Sanchez, Kevin K; Rosen, Matthew C MC; Sang, Qing-Xiang Amy QA
Publication Date: 2018

Variant appearance in text: BBS7: 335A>C
PubMed Link: 30588243
Variant Present in the following documents:
  • jcav09p4596s2.xlsx, sheet 1
View BVdb publication page