BBS7 c.19C>T ;(p.R7*)

Variant ID: 4-122791450-G-A

NM_176824.2(BBS7):c.19C>T;(p.R7*)

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:

Utility of clinical exome sequencing in a complex Emirati pediatric cohort.

Computational And Structural Biotechnology Journal
Mahfouz, Nour Abu NA; Kizhakkedath, Praseetha P; Ibrahim, Alia A; El Naofal, Maha M; Ramaswamy, Sathishkumar S; Harilal, Divinlal D; Qutub, Yasmeen Y; Uddin, Mohammed M; Taylor, Alan A; Alloub, Zeinab Z; AlBanna, Ammar A; Abuhammour, Walid W; Fathalla, Basil B; Tayoun, Ahmad Abou AA
Publication Date: 2020

Variant appearance in text: BBS7: Arg7*
PubMed Link: 32382396
Variant Present in the following documents:
  • Main text
View BVdb publication page