GC c.1132G>T ;(p.V378F)

Variant ID: 4-72620727-C-A

NM_000583.3(GC):c.1132G>T;(p.V378F)

This variant was identified in 4 publications

View GRCh38 version.



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

Publications:

Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology
Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M
Publication Date: 2023-03-03

Variant appearance in text: GC: 1132G>T; Val378Phe
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10
View BVdb publication page


Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.

Scientific Reports
Chiorean, Andreea A; Garver, William S WS; Meyre, David D
Publication Date: 2020-11-02

Variant appearance in text: GC: 1132G>T; Val378Phe
PubMed Link: 33139814
Variant Present in the following documents:
  • 41598_2020_75919_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page


Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations.

Molecular Genetics & Genomic Medicine
Huang, Limin L; Li, Liyan L; Lin, Sheng S; Chen, Juanjuan J; Li, Kun K; Fan, Dongmei D; Jin, Wangjie W; Li, Yihong Y; Yang, Xu X; Xiong, Yufeng Y; Li, Fenxia F; Yang, Xuexi X; Li, Ming M; Li, Qiang Q
Publication Date: 2020-11

Variant appearance in text: GC: 1132G>T
PubMed Link: 32875744
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1482.pdf
View BVdb publication page


Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: GC: 1132G>T
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s003.xlsx, sheet 1
View BVdb publication page