KDM5A c.23dup ;(p.Y9Lfs*15)

Variant ID: 12-498234-G-GC

NM_001042603.1(KDM5A):c.23dup;(p.Y9Lfs*15)

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:

Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One
Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD
Publication Date: 2019

Variant appearance in text: KDM5A: 23_24insG; Tyr9fs
PubMed Link: 30608972
Variant Present in the following documents:
  • pone.0210079.s007.xlsx, sheet 18
  • pone.0210079.s007.xlsx, sheet 19
  • pone.0210079.s007.xlsx, sheet 4
  • pone.0210079.s007.xlsx, sheet 3
View BVdb publication page