Variant #0000788031 (NC_000023.10:g.23397881C>A, PTCHD1(NM_173495.2):c.525C>A)

Individual ID 00375233
Chromosome X
Allele Maternal (inferred)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.23397881C>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID PTCHD1_000052
Variant remarks ACMG: PVS1, PM2_SUP
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
PTCHD1 NM_173495.2 +?/. - c.525C>A - r.(?) p.(Tyr175*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000376427 DNA SEQ-NG-I - - PTCHD1 1 Andreas Laner