Variant #0000001339 (NC_000001.11:g.11796309A>G, MTHFR(NM_005957.4):c.677T>C)

Individual ID 00000270
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.11796309A>G
Published as 677C>T
Reference S C Choo et al. (2011)dbSNP
DB-ID MTHFR_000002 See all 12 reported entries
dbSNP ID rs193922686
Frequency 13/18
Variant remarks -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
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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.677T>C 677C>T r.(?) p.(Ile226Thr) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000285 DNA PCR MTHFR 2 Nuur Athirah Binti Mohd Daud