Variant #0000052387 (NC_000023.10:g.23353144G>A, PTCHD1(NM_173495.2):c.152G>A)

Individual ID 00029006
Chromosome X
Allele Unknown
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.23353144G>A
DNA change (hg38) g.23335027G>A
Published as -
ISCN -
DB-ID PTCHD1_000012
Variant remarks not in 250 controls
Reference PubMed: Torrico 2015
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency 1/183 patients
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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 ?/. 1 c.152G>A - r.(?) p.(Ser51Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000029047 DNA SEQ Blood - PTCHD1 1 Bru Cormand