Variant #0000001334 (NC_000001.11:g.11796309A>G, NM_005957.4:c.677T>C (MTHFR))

Individual ID 00000267
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 K H Ling et al. (2003)dbSNP
DB-ID MTHFR_000002 See all 12 reported entries
dbSNP ID rs193922686
Frequency 5/21
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 11:17:07 +08:00 (CST)
Date last edited 2021-09-08 09:48:12 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

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DNA change (cDNA)     

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GVS function     

Clinical classification     
MTHFR NM_005957.4 ?/. - c.677T>C 677C>T r.(?) p.(Ile226Thr) - ClinVar



Screenings


AscendingScreening ID     

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Owner     
0000000282 DNA PCR MTHFR 2 Nuur Athirah Binti Mohd Daud