Variant #0000699776 (NC_000001.10:g.205156545C>T, DSTYK(NM_015375.2):c.654+1G>A)

Individual ID 00316070
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.205156545C>T
DNA change (hg38) g.205187417C>T
Published as -
ISCN -
DB-ID DSTYK_000013
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) 0.00029 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DSTYK NM_015375.2 +/. - c.654+1G>A r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000317252 DNA SEQ;SEQ-NG - 330-gene panel DSTYK 1 Johan den Dunnen