KDM5A c.1605G>T ;(p.Q535H)

Variant ID: 12-442701-C-A

NM_001042603.1(KDM5A):c.1605G>T;(p.Q535H)

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:

Whole-Exome Sequencing Reveals Rare Germline Mutations in Patients With Hemifacial Microsomia.

Frontiers In Genetics
Chen, Xiaojun X; Liu, Fatao F; Mar Aung, Zin Z; Zhang, Yan Y; Chai, Gang G
Publication Date: 2021

Variant appearance in text: JARID1A: Gln535His
PubMed Link: 34079577
Variant Present in the following documents:
  • Main text
  • fgene-12-580761.pdf
View BVdb publication page