Variant #0000179016 (NC_000023.10:g.41712473del, NM_003688.3:c.68del (CASK))

Individual ID 00111393
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.41712473del
DNA change (hg38) g.41853220del
Published as -
ISCN -
DB-ID CASK_000020
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Bernt Popp
Database submission license No license selected
Created by Bernt Popp
Date created 2017-08-03 00:41:28 +02:00 (CEST)
Date last edited 2020-07-19 19:28:26 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CASK NM_003688.3 +/. - c.68del r.(?) p.(Phe23Serfs*18)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000111858 DNA SEQ-NG - - CASK 1 Bernt Popp


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