Variant #0000729903 (NC_000019.9:g.11353957_11353960del, NM_020812.3:c.1360_1363del (DOCK6))

Individual ID 00331402
Chromosome 19
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.11353957_11353960del
DNA change (hg38) g.11243281_11243284del
Published as NM_020812.2:c.1362_1365delAACT:p.(Thr455Serfs*24)
ISCN -
DB-ID DOCK6_000001 See all 3 reported entries
Variant remarks -
Reference PubMed: Maddirevula 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-02-11 15:29:38 +01:00 (CET)
Date last edited 2021-02-11 15:34:06 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DOCK6 NM_020812.3 +/. - c.1360_1363del r.(?) p.(Thr455Serfs*24)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000332621 DNA SEQ;SEQ-NG - WES DOCK6 1 LOVD


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