Variant #0000001337 (NC_000001.11:g.11796309A>G, NM_005957.4:c.677T>C (MTHFR))

Individual ID 00000269
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 4/12
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
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
Date created 2020-12-17 15:10:15 +08:00 (CST)
Date last edited 2021-09-08 09:52:12 +08:00 (CST)
Options




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     
0000000284 DNA PCR MTHFR 2 Nuur Athirah Binti Mohd Daud