Variant #0000002201 (NC_000001.11:g.11796321G>C, MTHFR(NM_005957.4):c.665C>G)

Individual ID 00000461
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.11796321G>C
Published as -
Reference Ket Wei Loo et al.(2012)
DB-ID MTHFR_000003 See all 2 reported entries
dbSNP ID rs1801133
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
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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.665C>G - r.(?) p.(Ala222Gly) - benign



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000503 DNA PCRm MTHFR 1 Nur Aisyah Athirah