HERC2 c.12115A>G ;(p.I4039V)

Variant ID: 15-28380739-T-C

NM_004667.5(HERC2):c.12115A>G;(p.I4039V)

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:

Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly.

Molecular Genetics & Genomic Medicine
Meloche, Jolyane J; Brunet, Vanessa V; Gagnon, Pierre-Alexandre PA; Lavoie, Marie-Ève MÈ; Bouchard, Jean-Benoît JB; Nadaf, Javad J; Majewski, Jacek J; Morin, Charles C; Laprise, Catherine C
Publication Date: 2020-01

Variant appearance in text: HERC2: Ile4039Val; rs765206957
PubMed Link: 31578829
Variant Present in the following documents:
  • Main text
  • MGG3-8-e992.pdf
View BVdb publication page