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HEXA c.1257dup ;(p.W420Lfs*11)
Variant ID: 15-72638940-A-AG
NM_000520.4(
HEXA
):c.1257dup;(p.W420Lfs*11)
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: HEXA: 1257_1258insC; Trp420fs
PubMed Link:
30608972
Variant Present in the following documents:
pone.0210079.s007.xlsx, sheet 22
View BVdb publication page