Variant #0000271014 (NC_000001.10:g.205180474G>A, DSTYK(NM_015375.2):c.190C>T)

Chromosome 1
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.205180474G>A
DNA change (hg38) g.205211346G>A
Published as DSTYK(NM_015375.3):c.190C>T (p.L64F)
ISCN -
DB-ID DSTYK_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) 0.02721 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DSTYK NM_015375.2 -/. - c.190C>T r.(?) p.(Leu64Phe)