F2 c.665A>G ;(p.Q222R)

Variant ID: 11-46747514-A-G

NM_000506.3(F2):c.665A>G;(p.Q222R)

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:

TBX1 is required for normal stria vascularis and semicircular canal development.

Developmental Biology
Tian, Cong C; Johnson, Kenneth R KR
Publication Date: 2020-01-01

Variant appearance in text: F2: 665A>G
PubMed Link: 31550482
Variant Present in the following documents:
  • Main text
View BVdb publication page