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KCNH5 c.1191G>C ;(p.G397=)
Variant ID: 14-63417029-C-G
NM_139318.4(
KCNH5
):c.1191G>C;(p.G397=)
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: KCNH5: 1191G>C
PubMed Link:
30608972
Variant Present in the following documents:
pone.0210079.s007.xlsx, sheet 19
View BVdb publication page