MTHFR c.1538T>C ;(p.L513S)

Variant ID: 1-11852429-A-G

NM_005957.4(MTHFR):c.1538T>C;(p.L513S)

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:

Approaches to studying the genomic architecture of complex birth defects.

Prenatal Diagnosis
Taiwo, Toluwani E TE; Cao, Xuanye X; Cabrera, Robert M RM; Lei, Yunping Y; Finnell, Richard H RH
Publication Date: 2020-08

Variant appearance in text: MTHFR: Leu513Ser
PubMed Link: 32468575
Variant Present in the following documents:
  • Main text
View BVdb publication page