Variant #0000735427 (NC_000009.11:g.452069A>G, NM_203447.3:c.6020A>G (DOCK8))

Individual ID 00335014
Chromosome 9
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.452069A>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID DOCK8_000113
Variant remarks -
Reference PubMed: Luo 2021, Journal: Luo 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Liu Wenbing
Database submission license No license selected
Created by Liu Wenbing
Date created 2021-03-03 02:10:02 +01:00 (CET)
Date last edited 2022-05-26 13:18:57 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DOCK8 NM_203447.3 ?/. - c.6020A>G r.(?) p.(Tyr2007Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000336243 DNA SEQ-NG PBMC WES - 5 Liu Wenbing


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