NPC1 c.2608T>C ;(p.S870P)

Variant ID: 18-21119962-A-G

NM_000271.4(NPC1):c.2608T>C;(p.S870P)

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:

First Prenatal Diagnosis of a Niemann-Pick Disease Type C2 Revealed by a Cystic Hygroma: A Case Report and Review of the Literature.

Frontiers In Endocrinology
Ples, Liana L; Sima, Romina-Marina RM; Nedelea, Florina F; Moga, Marius M
Publication Date: 2018

Variant appearance in text: NPC1: 2608T>C; Ser870Pro
PubMed Link: 29928259
Variant Present in the following documents:
  • Main text
  • fendo-09-00292.pdf
View BVdb publication page