BBS7 c.187G>A ;(p.G63R)

Variant ID: 4-122782813-C-T

NM_176824.2(BBS7):c.187G>A;(p.G63R)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Understanding mutational effects in digenic diseases.

Nucleic Acids Research
Gazzo, Andrea A; Raimondi, Daniele D; Daneels, Dorien D; Moreau, Yves Y; Smits, Guillaume G; Van Dooren, Sonia S; Lenaerts, Tom T
Publication Date: 2017-09-06

Variant appearance in text: BBS7: G63R
PubMed Link: 28911095
Variant Present in the following documents:
  • Main text
  • gkx557.pdf
View BVdb publication page


GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: BBS7: G63R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page