BBS7 c.703G>C ;(p.E235Q)

Variant ID: 4-122775874-C-G

NM_176824.2(BBS7):c.703G>C;(p.E235Q)

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:

Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations.

Genes
Kantaputra, Piranit P; Dejkhamron, Prapai P; Sittiwangkul, Rekwan R; Katanyuwong, Kamornwan K; Ngamphiw, Chumpol C; Sonsuwan, Nuntigar N; Intachai, Worrachet W; Tongsima, Sissades S; Beales, Philip L PL; Buranaphatthana, Worakanya W
Publication Date: 2022-12-27

Variant appearance in text: BBS7: 703G>C
PubMed Link: 36672825
Variant Present in the following documents:
  • Main text
  • genes-14-00084.pdf
View BVdb publication page