Variant #0000699911 (NC_000001.10:g.205116802C>T, DSTYK(NM_015375.2):c.2674G>A)

Individual ID 00316094
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.205116802C>T
DNA change (hg38) g.205147674C>T
Published as -
ISCN -
DB-ID DSTYK_000011 See all 2 reported entries
Variant remarks -
Reference PubMed: Heidet 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 5.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DSTYK NM_015375.2 +?/. - c.2674G>A r.(?) p.(Asp892Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000317276 DNA SEQ;SEQ-NG - 330-gene panel BICC1, DSTYK, SOX17 3 Johan den Dunnen