MTHFR c.916T>C ;(p.C306R)

Variant ID: 1-11855270-A-G

NM_005957.4(MTHFR):c.916T>C;(p.C306R)

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:

Association of congenital cardiovascular malformations with 33 single nucleotide polymorphisms of selected cardiovascular disease-related genes.

Birth Defects Research. Part A, Clinical And Molecular Teratology
Kuehl, Karen K; Loffredo, Christopher C; Lammer, Edward J EJ; Iovannisci, David M DM; Shaw, Gary M GM
Publication Date: 2010-02

Variant appearance in text: MTHFR: 916T>C
PubMed Link: 19764075
Variant Present in the following documents:
  • Main text
View BVdb publication page