Variant #0000329455 (NC_000003.11:g.53275145T>G, TKT(NM_001064.3):c.339+3A>C)

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.53275145T>G
DNA change (hg38) g.53241129T>G
Published as TKT(NM_001064.3):c.339+3A>C (p.?)
ISCN -
DB-ID TKT_000003
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) 0.00099 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.339+3A>C r.spl? p.?