NPC1L1 c.967A>T ;(p.T323S)

Variant ID: 7-44579029-T-A

NM_001101648.1(NPC1L1):c.967A>T;(p.T323S)

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:

Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Molecular Genetics & Genomic Medicine
Barboza-Cerda, María Carmen MC; Barboza-Quintana, Oralia O; Martínez-Aldape, Gerardo G; Garza-Guajardo, Raquel R; Déctor, Miguel Angel MA
Publication Date: 2019-09

Variant appearance in text: rs185121858
PubMed Link: 31397093
Variant Present in the following documents:
  • Main text
  • MGG3-7-e931.pdf
View BVdb publication page