KDM5A c.1133T>C ;(p.F378S)

Variant ID: 12-461387-A-G

NM_001042603.1(KDM5A):c.1133T>C;(p.F378S)

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:

De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.

Genome Medicine
Sevim Bayrak, Cigdem C; Zhang, Peng P; Tristani-Firouzi, Martin M; Gelb, Bruce D BD; Itan, Yuval Y
Publication Date: 2020-01-15

Variant appearance in text: KDM5A: F378S
PubMed Link: 31941532
Variant Present in the following documents:
  • 13073_2019_709_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page