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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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