Full data view for gene PTCHD1

Information The variants shown are described using the NM_173495.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA 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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 1i c.352-4A>C - r.(?) p.(=) Maternal (inferred) - VUS g.23397704A>C g.23379587A>C - - PTCHD1_000009 Found once (in a male) in 250 controls - - - Germline ? 1/240 patients - 0 - DNA, protein SEQ Blood - autism - PubMed: Torrico 2015 240 patients - - Spain white - 0 - - 240 Bru Cormand
?/. 1i c.352-4A>C - r.(?) p.(=) Maternal (inferred) - VUS g.23397704A>C g.23379587A>C - - PTCHD1_000009 - PubMed: Torrico 2015 - - Germline - 1/250 controls - 0 - - - - - - - - - - - - - - - - - - -
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