Variant #0000244201 (NC_000023.10:g.23397898A>C, PTCHD1(NM_173495.2):c.542A>C)

Individual ID 00150182
Chromosome X
Allele Maternal (confirmed)
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.23397898A>C
DNA change (hg38) g.23379781A>C
Published as NM_173495: c.A542C; p.K181T
ISCN -
DB-ID PTCHD1_000021
Variant remarks -
Reference PubMed: Karaca 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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
PTCHD1 NM_173495.2 +/. - c.542A>C - r.(?) p.(Lys181Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000151037 DNA SEQ-NG-I - WES PTCHD1 1 Johan den Dunnen