Variant #0000790847 (NC_000023.10:g.23352929_23352937dup, PTCHD1(NM_173495.2):c.-64_-56dup)

Individual ID 00376963
Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification association
DNA change (genomic) (Relative to hg19 / GRCh37) g.23352929_23352937dup
DNA change (hg38) -
Published as GCC[14]
ISCN -
DB-ID PTCHD1_000057
Variant remarks previously undescribed microsatellite 5' gene; associated with ASD phenotype
Reference PubMed: Torrico 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 5/240 ASD cases, 1/585 controls
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
PTCHD1 NM_173495.2 +?/. _1 c.-64_-56dup GCC[14] r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000378168 DNA SEQ - - PTCHD1 1 Johan den Dunnen