NPC1 c.1502A>T ;(p.D501V)

Variant ID: 18-21134773-T-A

NM_000271.4(NPC1):c.1502A>T;(p.D501V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients.

Orphanet Journal Of Rare Diseases
Zhang, Huiwen H; Wang, Yu Y; Lin, Na N; Yang, Rui R; Qiu, Wenjuan W; Han, Lianshu L; Ye, Jun J; Gu, Xuefan X
Publication Date: 2014-06-10

Variant appearance in text: NPC1: 1502A>T; D501V
PubMed Link: 24915861
Variant Present in the following documents:
  • Main text
  • 1750-1172-9-82.pdf
View BVdb publication page