Variant #0000052391 (NC_000023.10:g.23397704A>C, PTCHD1(NM_173495.2):c.352-4A>C)

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 -
Reference PubMed: Torrico 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/250 controls
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Bru Cormand
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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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.(=)