NPC1L1 c.1327G>A ;(p.E443K)

Variant ID: 7-44578669-C-T

NM_001101648.1(NPC1L1):c.1327G>A;(p.E443K)

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:

FH ALERT: efficacy of a novel approach to identify patients with familial hypercholesterolemia.

Scientific Reports
Fath, Felix F; Bengeser, Andreas A; Barresi, Mathias M; Binner, Priska P; Schwab, Stefanie S; Ray, Kausik K KK; Krämer, Bernhard K BK; Fraass, Uwe U; März, Winfried W
Publication Date: 2021-10-14

Variant appearance in text: NPC1L1: 1327G>A
PubMed Link: 34650182
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_99961.pdf
View BVdb publication page