KDM5A c.3720G>T ;(p.L1240F)

Variant ID: 12-416830-C-A

NM_001042603.1(KDM5A):c.3720G>T;(p.L1240F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Missense Variants Reveal Functional Insights Into the Human ARID Family of Gene Regulators.

Journal Of Molecular Biology
Deák, Gauri G; Cook, Atlanta G AG
Publication Date: 2022-05-15

Variant appearance in text: rs768489569
PubMed Link: 35257783
Variant Present in the following documents:
  • mmc3.xlsx, sheet 12
View BVdb publication page



Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience
Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA
Publication Date: 2016-11

Variant appearance in text: KDM5A: 3720G>T; Leu1240Phe
PubMed Link: 27694994
Variant Present in the following documents:
  • NIHMS815183-supplement-supp_table3.xlsx, sheet 1
View BVdb publication page