SLC24A3 c.487G>T ;(p.E163*)

Variant ID: 20-19565678-G-T

NM_020689.3(SLC24A3):c.487G>T;(p.E163*)

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:

The complex genetic basis of fibromuscular dysplasia, a systemic arteriopathy associated with multiple forms of cardiovascular disease.

Clinical Science (London, England : 1979)
Georges, Adrien A; Bouatia-Naji, Nabila N
Publication Date: 2022-08-31

Variant appearance in text: SLC24A3: Glu163*
PubMed Link: 36043395
Variant Present in the following documents:
  • Main text
  • cs-136-cs20210990.pdf
View BVdb publication page