MTHFR c.280_281delinsTG ;(p.T94C)

Variant ID: 1-11861412-GT-CA

NM_005957.4(MTHFR):c.280_281delinsTG;(p.T94C)

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:

Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).

Bmc Genetics
Ekstrøm, Per O PO; Bjørheim, Jens J; Thilly, William G WG
Publication Date: 2007-08-14

Variant appearance in text: MTHFR: T94C
PubMed Link: 17697348
Variant Present in the following documents:
  • Main text
View BVdb publication page