Full data view for gene PTCH1

Information The variants shown are described using the NM_000264.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - Inv (9)(q21.2q33.1) untraceable in publication - PTCH1_000000 - PubMed: Endo 2009 - - Unknown - - - 0 - DNA SEQ - - BCNS - PubMed: Endo 2009 - - - - - - 0 - - 1 Michel van Geel
+/. _1_24_ c.(?_-340192)_(*2301659_?)del r.0? p.0? Parent #1 - pathogenic g.(?_95907016)_(98610835_?)dup - - - PTCH1_000000 - PubMed: Izumi 2011 - - Unknown - - - 0 - DNA SEQ - - ? - PubMed: Izumi 2011 - - - - - - 0 - - 1 Michel van Geel
+/. _1 c.? r.? p.(?) Parent #1 - pathogenic g.98696759_105723255del - 5' adjecent to gene - PTCH1_000000 - PubMed: Ibn-Salem 2014 - - Unknown - - - 0 - DNA SEQ - - MCLMR - PubMed: Ibn-Salem 2014 - - - - - - 0 - - 1 Michel van Geel
+/. 16 c.2608_?delins? r.? p.? Parent #1 - pathogenic g.98224233_?delins? - 2596complex (del and ins) - PTCH1_000000 - PubMed: Wicking 1997 - - Unknown - - - 0 - DNA SEQ - - BCNS - PubMed: Wicking 1997 - - - - - - 0 - - 1 Michel van Geel
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