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.1444del - r.(?) p.(Leu482Tyrfs*14) - pathogenic g.23411079del g.23392962del 2341107&_23411077delACinsA - PTCHD1_000013 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
+/. 3 c.1444del - r.(?) p.(Leu482Tyrfs*14) - pathogenic g.23411079del g.23392962del - - PTCHD1_000013 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - - De novo - - - 0 - Johan den Dunnen
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