Variant #0000848495 (NC_000001.10:g.205180578C>T, NM_015375.2:c.86G>A (DSTYK))

Chromosome 1
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.205180578C>T
DNA change (hg38) -
Published as DSTYK(NM_015375.2):c.86G>A (p.R29Q), DSTYK(NM_015375.3):c.86G>A (p.(Arg29Gln))
ISCN -
DB-ID DSTYK_000023 See all 2 reported entries
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) 0.001 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2022-05-09 15:40:45 +02:00 (CEST)
Date last edited 2025-05-05 21:14:00 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DSTYK NM_015375.2 ?/. - c.86G>A r.(?) p.(Arg29Gln)


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