Variant #0000002195 (NC_000001.11:g.11794407T>G, NM_005957.4:c.1298A>C (MTHFR))

Individual ID 00000460
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.11794407T>G
Published as -
Reference Loo Keat Wei et al.(2015)
DB-ID MTHFR_000004
dbSNP ID rs1801131
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-02-25 12:12:18 +08:00 (CST)
Date last edited 2021-08-01 13:08:04 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
MTHFR NM_005957.4 +/. - c.1298A>C - r.(?) p.(Glu433Ala) - benign



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000501 DNA PCRm MTHFR 2 Nur Aisyah Athirah