All variants in the PTCHD1 gene

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     

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     

Owner     
+/. 3 c.2128del - r.(?) p.(Leu710Cysfs*13) - pathogenic g.23411763del g.23393646del L710Cfs*12 - PTCHD1_000015 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - - Germline yes - - 0 - Pieter Klap
+/. 3 c.2128del - r.(?) p.(Leu710Cysfs*13) - pathogenic g.23411763del g.23393646del L710Cfs*12 - PTCHD1_000015 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - - Germline yes - - 0 - Johan den Dunnen
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