Individual #00029005

ID_report -
Reference PubMed: Torrico 2015
Remarks 240 patients
Gender -
Consanguinity -
Country Spain
Population white
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 240
Diseases autism
Owner name Bru Cormand
Database submission license No license selected
Created by Bru Cormand


Phenotypes

autism (autism)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000025001 - Unknown - - - - - - - Bru Cormand



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000029046 DNA;protein SEQ Blood - PTCHD1 4 Bru Cormand



Variants

4 entries on 1 page. Showing entries 1 - 4.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
X Maternal (inferred) +/. - pathogenic g.23352895_23352921dup g.23334778_23334804dup 23352883_23352909dup - PTCHD1_000007 promotor variant; not in 250 controls PubMed: Torrico 2015 - - Germline ? 3/240 patients - 0 - Bru Cormand PTCHD1 - - - - _1 NM_173495.2:c.-98_-72dup - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
X Maternal (inferred) ?/. - VUS g.23352938C>G g.23334821C>G - - PTCHD1_000008 promotor variant; not in 250 controls PubMed: Torrico 2015 - - Germline ? 1/240 patients - 0 - Bru Cormand PTCHD1 - - - - _1 NM_173495.2:c.-55C>G - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
X Maternal (inferred) ?/. - VUS g.23397704A>C g.23379587A>C - - PTCHD1_000009 Found once (in a male) in 250 controls - - - Germline ? 1/240 patients - 0 - Bru Cormand PTCHD1 - - - - 1i NM_173495.2:c.352-4A>C - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
X Maternal (inferred) -?/. - likely benign g.23398046G>A g.23379929G>A - - PTCHD1_000004 not in 250 controls PubMed: Torrico 2015 - - Unknown ? 1/240 patients - 0 - Bru Cormand PTCHD1 - - - - 2 NM_173495.2:c.690G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
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