Variant #0000002267 (NC_000001.11:g.11796309A>G, NM_005957.4:c.677T>C (MTHFR))

Individual ID 00000487
Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.11796309A>G
Published as -
Reference Siaw C Liew et al.(2012)
DB-ID MTHFR_000002 See all 12 reported entries
dbSNP ID rs1217691063
Frequency 57/200
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 2021-03-08 11:53:01 +08:00 (CST)
Date last edited 2021-08-01 13:16:15 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

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DNA change (cDNA)     

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RNA change     

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GVS function     

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



Screenings


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Variants found     

Owner     
0000000533 DNA PCR MTHFR 1 Nur Aisyah Athirah