Variant #0000680303 (NC_000015.9:g.80137730C>T, NM_006441.3:c.434G>A (MTHFS))

Chromosome 15
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.80137730C>T
DNA change (hg38) -
Published as MTHFS(NM_006441.3):c.434G>A (p.R145Q)
ISCN -
DB-ID MTHFS_000001
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2020-08-06 14:59:34 +02:00 (CEST)
Date last edited 2020-09-15 15:50:26 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ST20 NM_001100879.1 +/. - c.*53543G>A r.(=) p.(=)
ST20-MTHFS NM_001199760.1 +/. - c.362G>A r.(?) p.(Arg121Gln)
MTHFS NM_006441.3 +/. - c.434G>A r.(?) p.(Arg145Gln)


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