Variant #0000286684 (NC_000014.8:g.64916165C>T, NM_005956.3:c.2282C>T (MTHFD1))

Chromosome 14
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.64916165C>T
DNA change (hg38) g.64449447C>T
Published as MTHFD1(NM_005956.4):c.2282C>T (p.T761M)
ISCN -
DB-ID MTHFD1_000006
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) 0.00972 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ZBTB1 NM_001123329.1 -/. - c.-55518C>T r.(?) p.(=)
AKAP5 NM_004857.3 -/. - c.-16430C>T r.(?) p.(=)
MTHFD1 NM_005956.3 -/. - c.2282C>T r.(?) p.(Thr761Met)
ZBTB25 NM_006977.2 -/. - c.*37476G>A r.(=) p.(=)


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