BBS2 c.1673C>T ;(p.T558I)

Variant ID: 16-56531779-G-A

NM_031885.3(BBS2):c.1673C>T;(p.T558I)

This variant was identified in 4 publications

View GRCh38 version.




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: BBS: T558I
PubMed Link: 28911095
Variant Present in the following documents:
  • Main text
  • gkx557.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: BBS2: T558I
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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: BBS2: T558I
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.

American Journal Of Human Genetics
Katsanis, Nicholas N; Eichers, Erica R ER; Ansley, Stephen J SJ; Lewis, Richard Alan RA; Kayserili, Hülya H; Hoskins, Bethan E BE; Scambler, Peter J PJ; Beales, Philip L PL; Lupski, James R JR
Publication Date: 2002-07

Variant appearance in text: BBS: T558I
PubMed Link: 12016587
Variant Present in the following documents:
  • Main text
View BVdb publication page