Variant #0000119867 (NC_000023.10:g.23411763del, PTCHD1(NM_173495.2):c.2128del)

Individual ID 00074629
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.23411763del
DNA change (hg38) g.23393646del
Published as L710Cfs*12
ISCN -
DB-ID PTCHD1_000015 See all 2 reported entries
Variant remarks -
Reference PubMed: Chaudhry 2015, Journal: Chaudhry 2015
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 Pieter Klap
Database submission license No license selected
Created by Pieter Klap
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
PTCHD1 NM_173495.2 +/. 3 c.2128del - r.(?) p.(Leu710Cysfs*13)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000074794 DNA SEQ - - PTCHD1 1 Pieter Klap