Variant #0000904799 (NC_000001.10:g.205156577A>G, NM_015375.2:c.623T>C (DSTYK))

Individual ID 00426119
Chromosome 1
Allele Both (homozygous)
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.205156577A>G
DNA change (hg38) g.205187449A>G
Published as -
ISCN -
DB-ID DSTYK_000004 See all 2 reported entries
Variant remarks -
Reference PubMed: Al-Kasbi 2022
ClinVar ID -
dbSNP ID rs1359033175
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-11-28 11:02:11 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DSTYK NM_015375.2 +?/. - c.623T>C r.(?) p.(Leu208Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000427439 DNA SEQ;SEQ-NG - WES - 1 Johan den Dunnen


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.