MTHFR c.1797_1808del ;(p.E600_S603del)

Variant ID: 1-11850900-GGACTCCTCCTCA-G

NM_005957.4(MTHFR):c.1797_1808del;(p.E600_S603del)

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:

A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency.

Frontiers In Neurology
Massadeh, Salam S; Umair, Muhammad M; Alaamery, Manal M; Alfadhel, Majid M
Publication Date: 2019

Variant appearance in text: MTHFR: 1797_1808del
PubMed Link: 31068897
Variant Present in the following documents:
  • Main text
  • fneur-10-00411.pdf
View BVdb publication page