NPC1L1 c.188C>T ;(p.A63V)

Variant ID: 7-44579808-G-A

NM_001101648.1(NPC1L1):c.188C>T;(p.A63V)

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:

Large-Scale Phenome-Wide Association Study of PCSK9 Variants Demonstrates Protection Against Ischemic Stroke.

Circulation. Genomic And Precision Medicine
Rao, Abhiram S AS; Lindholm, Daniel D; Rivas, Manuel A MA; Knowles, Joshua W JW; Montgomery, Stephen B SB; Ingelsson, Erik E
Publication Date: 2018-07

Variant appearance in text: NPC1L1: A63V
PubMed Link: 29997226
Variant Present in the following documents:
  • Main text
View BVdb publication page