Variant #0000154020 (NC_000023.10:g.(?_23204258)_(23371802_?)del, PTCHD1(NM_173495.2):c.(?_-1)_(351+1_352-1)del)

Individual ID 00095059
Chromosome X
Allele Maternal (inferred)
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.(?_23204258)_(23371802_?)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID PTCHD1_000018 See all 7 reported entries
Variant remarks 167 kb deletion
Reference PubMed: Chaudhry 2015, Journal: Chaudhry 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
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_1i c.(?_-1)_(351+1_352-1)del - r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000095458 DNA arraySNP - - PTCHD1 1 Johan den Dunnen