All variants in the PTCHD1 gene

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

10 entries on 1 page. Showing entries 1 - 10.
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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     
+/. _1_6_ c.(?_-1)_(*1_?)del - r.0 p.0 - pathogenic g.(?_23273223)_(23470504_?)del - - - PTCHD1_000019 197 kb deletion PubMed: Chaudhry 2015, Journal: Chaudhry 2015, PubMed: Filges 2011, Journal: Filges 2011 - - Germline - - - 0 - Johan den Dunnen
+/. _1_6_ c.(?_-1)_(*1_?)del - r.0 p.0 - pathogenic g.(?_23273223)_(23470504_?)del - - - PTCHD1_000019 197 kb deletion PubMed: Chaudhry 2015, Journal: Chaudhry 2015, PubMed: Filges 2011, Journal: Filges 2011 - - Germline - - - 0 - Johan den Dunnen
+/. _1_6_ c.(?_-1)_(*1_?)del - r.0 p.0 - pathogenic g.(?_23110934)_(23411163_?)del - - - PTCHD1_000019 300 kb deletion PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - - Germline - - - 0 - Johan den Dunnen
+/. _1_6_ c.(?_-1)_(*1_?)del - r.0 p.0 - pathogenic g.(?_23329087)_(23419289_?)del - - - PTCHD1_000019 90 kb deletion PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - - Germline - - - 0 - Johan den Dunnen
+/. _1_6_ c.(?_-1)_(*1_?)del - r.0 p.0 - pathogenic g.(?_23329087)_(23419289_?)del - - - PTCHD1_000019 90 kb deletion PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - - Germline - - - 0 - Johan den Dunnen
+/. _1_6_ c.(?_-1)_(*1_?)del - r.0 p.0 - pathogenic g.(?_23329087)_(23419289_?)del - - - PTCHD1_000019 90 kb deletion PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - - Germline - - - 0 - Johan den Dunnen
+/. _1_6_ c.(?_-1)_(*1_?)del - r.0 p.0 - pathogenic g.(?_22960743)_(23463337_?)del - - - PTCHD1_000019 503 kb deletion PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - - Germline - - - 0 - Johan den Dunnen
+/. _1_6_ c.(?_-1)_(*1_?)del - r.0 p.0 - pathogenic g.(?_23331184)_(23604246_?)del - - - PTCHD1_000019 273 kb deletion PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - - Germline - - - 0 - Johan den Dunnen
+/. _1_6_ c.(?_-1)_(*1_?)del - r.0 p.0 - pathogenic g.(?_23164422)_(23576232_?)del - - - PTCHD1_000019 412 kb deletion PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - - De novo - - - 0 - Johan den Dunnen
+/. _1_6_ c.(?_-1)_(*1_?)del - r.0 p.0 - pathogenic g.(?_23196328)_(23525343_?)del - - - PTCHD1_000019 329 kb deletion PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - - Germline - - - 0 - Johan den Dunnen
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