GC c.1025T>C ;(p.V342A)

Variant ID: 4-72622438-A-G

NM_000583.3(GC):c.1025T>C;(p.V342A)

This variant was identified in 3 publications

View GRCh38 version.




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: 1025T>C
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10
View BVdb publication page



Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience
Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA
Publication Date: 2016-11

Variant appearance in text: GC: 1025T>C
PubMed Link: 27694994
Variant Present in the following documents:
  • NIHMS815183-supplement-supp_table3.xlsx, sheet 1
View BVdb publication page



Identification of Novel FAM134B (JK1) Mutations in Oesophageal Squamous Cell Carcinoma.

Scientific Reports
Haque, Md Hakimul MH; Gopalan, Vinod V; Chan, Kwok-Wah KW; Shiddiky, Muhammad J A MJ; Smith, Robert Anthony RA; Lam, Alfred King-Yin AK
Publication Date: 2016-07-04

Variant appearance in text: GC: Val342Ala
PubMed Link: 27373372
Variant Present in the following documents:
  • Main text
  • srep29173.pdf
View BVdb publication page