All variants in the PTCHD1 gene

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

7 entries on 1 page. Showing entries 1 - 7.
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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_1i c.(?_-1)_(351+1_352-1)del - r.0 p.0 - pathogenic g.(?_22561238)_(23362476_?)del - - - PTCHD1_000018 801 kb deletion PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - - Germline - - - 0 - Johan den Dunnen
+/. _1_1i c.(?_-1)_(351+1_352-1)del - r.0 p.0 - pathogenic g.(?_22561238)_(23362476_?)del - - - PTCHD1_000018 801 kb deletion PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - - Germline - - - 0 - Johan den Dunnen
+/. _1_1i c.(?_-1)_(351+1_352-1)del - r.0 p.0 - pathogenic g.(?_23237006)_(23383352_?)del - - - PTCHD1_000018 146 kb deletion PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - - Germline - - - 0 - Johan den Dunnen
+/. _1_1i c.(?_-1)_(351+1_352-1)del - r.0 p.0 - pathogenic g.(?_23204258)_(23371802_?)del - - - PTCHD1_000018 167 kb deletion PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - - Germline - - - 0 - Johan den Dunnen
+/. _1_1i c.(?_-1)_(351+1_352-1)del - r.0 p.0 - pathogenic g.(?_23204258)_(23371802_?)del - - - PTCHD1_000018 167 kb deletion PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - - Germline - - - 0 - Johan den Dunnen
+/. _1_1i c.(?_-1)_(351+1_352-1)del - r.0 p.0 - pathogenic g.(?_22686771)_(23354655_?)del - - - PTCHD1_000018 643 kb deletion PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - - Germline - - - 0 - Johan den Dunnen
+/. _1_1i c.(?_-1)_(351+1_352-1)del - r.0 p.0 - pathogenic g.(?_22395639)_(23358413_?)del - - - PTCHD1_000018 963 kb deletion PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - - Germline - - - 0 - Johan den Dunnen
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