MTHFR c.1485C>G ;(p.D495E)

Variant ID: 1-11854009-G-C

NM_005957.4(MTHFR):c.1485C>G;(p.D495E)

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:

Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer.

Journal Of Human Genetics
Lefevre, Jérémie H JH; Bonilla, Carolina C; Colas, Chrystelle C; Winney, Bruce B; Johnstone, Elaine E; Tonks, Susan S; Day, Tammy T; Hutnik, Katarzyna K; Boumertit, Abdelhamid A; Soubrier, Florent F; Midgley, Rachel R; Kerr, David D; Parc, Yann Y; Bodmer, Walter F WF
Publication Date: 2012-11-26

Variant appearance in text: MTHFR: D495E
PubMed Link: 22875147
Variant Present in the following documents:
  • Main text
View BVdb publication page