BBS2 c.701G>C ;(p.R234P)

Variant ID: 16-56540048-C-G

NM_031885.3(BBS2):c.701G>C;(p.R234P)

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:

A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.

Molecular Vision
Kanda, Atsuhiro A; Swaroop, Anand A
Publication Date: 2009-10-24

Variant appearance in text: BBS: 701G>C
PubMed Link: 19898638
Variant Present in the following documents:
  • Main text
  • mv-v15-2174.pdf
View BVdb publication page