Variant #0000052390 (NC_000023.10:g.23397704A>C, PTCHD1(NM_173495.2):c.352-4A>C)

Individual ID 00029005
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.23397704A>C
DNA change (hg38) g.23379587A>C
Published as -
ISCN -
DB-ID PTCHD1_000009 See all 2 reported entries
Variant remarks Found once (in a male) in 250 controls
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency 1/240 patients
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Bru Cormand
Database submission license No license selected
Created by Bru Cormand
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
PTCHD1 NM_173495.2 ?/. 1i c.352-4A>C - r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000029046 DNA;protein SEQ Blood - PTCHD1 4 Bru Cormand