Variant #0000827608 (NC_000023.10:g.(128946797_128946967)_(128948896_128957654)del, ZDHHC9(NM_016032.3):c.(487+1_488-125)_(675-171_675-1)del)

Individual ID 00394796
Chromosome X
Allele Maternal (confirmed)
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.(128946797_128946967)_(128948896_128957654)del
DNA change (hg38) -
Published as chrX: 128946967–128948896del
ISCN -
DB-ID ZDHHC9_000036
Variant remarks -
Reference PubMed: Schirwani 2018, Balasubramanian 2020 in OMIM:var0006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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     
ZDHHC9 NM_016032.3 +/. _6_ c.(487+1_488-125)_(675-171_675-1)del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000396043 DNA arrayCGH - - - 1 Johan den Dunnen