Variant #0000046751 (NC_000023.10:g.23329087_23419289del, PTCHD1(NM_173495.2):c.-23906_*6987del)

Individual ID 00024221
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.23329087_23419289del
DNA change (hg38) g.23310970_23401172del
Published as hg18 chrX:g.23239008_23329210del
ISCN -
DB-ID PTCHD1_000006
Variant remarks not in 447 controls
Reference PubMed: Wibley 2010
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)     

Haplotype     

RNA change     

Protein     
PTCHD1 NM_173495.2 +?/. _1_3_ c.-23906_*6987del - r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024213 DNA arrayCGH;SEQ - - PTCHD1 1 Johan den Dunnen