Variant #0000504946 (NC_000001.10:g.205130450A>T, DSTYK(NM_015375.2):c.1884T>A)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.205130450A>T
DNA change (hg38) g.205161322A>T
Published as DSTYK(NM_015375.2):c.1884T>A (p.(Asp628Glu))
ISCN -
DB-ID DSTYK_000008
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) 0.00046 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     
DSTYK NM_015375.2 -?/. - c.1884T>A r.(?) p.(Asp628Glu)