All variants in the PTCHD1 gene

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

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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_3_ c.-23906_*6987del - r.0 p.0 - likely pathogenic g.23329087_23419289del g.23310970_23401172del hg18 chrX:g.23239008_23329210del - PTCHD1_000006 not in 447 controls PubMed: Wibley 2010 - - Germline yes - - 0 - Johan den Dunnen
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