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HMCN1 c.2078A>T ;(p.N693I)
Variant ID: 1-185933007-A-T
NM_031935.2(
HMCN1
):c.2078A>T;(p.N693I)
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:
Exploratory data from complete genomes of familial alzheimer disease age-at-onset outliers.
Human Mutation
Lalli, Matthew A MA; Garcia, Gloria G; Madrigal, Lucia L; Arcos-Burgos, Mauricio M; Arcila, Mary Luz ML; Kosik, Kenneth S KS; Lopera, Francisco F
Publication Date: 2012-12
Variant appearance in text: HMCN1: 2078A>T
PubMed Link:
22829467
Variant Present in the following documents:
Main text
View BVdb publication page