Variant #0000329454 (NC_000003.11:g.53265467T>A, TKT(NM_001064.3):c.848A>T)

Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.53265467T>A
DNA change (hg38) g.53231451T>A
Published as TKT(NM_001064.3):c.848A>T (p.(Lys283Met))
ISCN -
DB-ID TKT_000002
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00103 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TKT NM_001064.3 ?/. - c.848A>T r.(?) p.(Lys283Met)