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NPC1 c.389T>C ;(p.V130A)
Variant ID: 18-21148861-A-G
NM_000271.4(
NPC1
):c.389T>C;(p.V130A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genomic insights into the evolution of Echinochloa species as weed and orphan crop.
Nature Communications
Wu, Dongya D; Shen, Enhui E; Jiang, Bowen B; Feng, Yu Y; Tang, Wei W; Lao, Sangting S; Jia, Lei L; Lin, Han-Yang HY; Xie, Lingjuan L; Weng, Xifang X; Dong, Chenfeng C; Qian, Qinghong Q; Lin, Feng F; Xu, Haiming H; Lu, Huabing H; Cutti, Luan L; Chen, Huajun H; Deng, Shuiguang S; Guo, Longbiao L; Chuah, Tse-Seng TS; Song, Beng-Kah BK; Scarabel, Laura L; Qiu, Jie J; Zhu, Qian-Hao QH; Yu, Qin Q; Timko, Michael P MP; Yamaguchi, Hirofumi H; Merotto, Aldo A; Qiu, Yingxiong Y; Olsen, Kenneth M KM; Fan, Longjiang L; Ye, Chu-Yu CY
Publication Date: 2022-02-03
Variant appearance in text: NPC1: Val130Ala
PubMed Link:
35115514
Variant Present in the following documents:
41467_2022_28359_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page
Genomic insights into the evolution of Echinochloa species as weed and orphan crop.
Nature Communications
Wu, Dongya D; Shen, Enhui E; Jiang, Bowen B; Feng, Yu Y; Tang, Wei W; Lao, Sangting S; Jia, Lei L; Lin, Han-Yang HY; Xie, Lingjuan L; Weng, Xifang X; Dong, Chenfeng C; Qian, Qinghong Q; Lin, Feng F; Xu, Haiming H; Lu, Huabing H; Cutti, Luan L; Chen, Huajun H; Deng, Shuiguang S; Guo, Longbiao L; Chuah, Tse-Seng TS; Song, Beng-Kah BK; Scarabel, Laura L; Qiu, Jie J; Zhu, Qian-Hao QH; Yu, Qin Q; Timko, Michael P MP; Yamaguchi, Hirofumi H; Merotto, Aldo A; Qiu, Yingxiong Y; Olsen, Kenneth M KM; Fan, Longjiang L; Ye, Chu-Yu CY
Publication Date: 2022-02-03
Variant appearance in text: NPC1: Val130Ala
PubMed Link:
35115514
Variant Present in the following documents:
41467_2022_28359_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page
Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.
Human Mutation
Rodríguez-Pascau, Laura L; Gort, Laura L; Schuchman, Edward H EH; Vilageliu, Lluïsa L; Grinberg, Daniel D; Chabás, Amparo A
Publication Date: 2009-07
Variant appearance in text: NPC1: 389T>C; V130A
PubMed Link:
19405096
Variant Present in the following documents:
Main text
View BVdb publication page