BBS2 c.135T>A ;(p.P45=)

Variant ID: 16-56548575-A-T

NM_031885.3(BBS2):c.135T>A;(p.P45=)

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:

Gene panel sequencing in Brazilian patients with retinitis pigmentosa.

International Journal Of Retina And Vitreous
Costa, Kárita Antunes KA; Salles, Mariana Vallim MV; Whitebirch, Chris C; Chiang, John J; Sallum, Juliana Maria Ferraz JMF
Publication Date: 2017

Variant appearance in text: BBS: Pro45Pro
PubMed Link: 28912962
Variant Present in the following documents:
  • Main text
View BVdb publication page