NPC1 c.1068C>A ;(p.F356L)

Variant ID: 18-21136465-G-T

NM_000271.4(NPC1):c.1068C>A;(p.F356L)

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:

A functional enrichment test for molecular convergent evolution finds a clear protein-coding signal in echolocating bats and whales.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Marcovitz, Amir A; Turakhia, Yatish Y; Chen, Heidi I HI; Gloudemans, Michael M; Braun, Benjamin A BA; Wang, Haoqing H; Bejerano, Gill G
Publication Date: 2019-10-15

Variant appearance in text: NPC1: F356L
PubMed Link: 31570615
Variant Present in the following documents:
  • Main text
View BVdb publication page