Full data view for gene PTCH1

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

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

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Panel size     

Owner     
-?/-? - c.4126C>T r.(?) p.(Arg1376Trp) Parent #2 g.98209214G>A - PTCH1_000018 rs143464326 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Aghios Matthaios, Corfu - Greek no - 1 Despoina Kalfakakou
-?/-? - c.4126C>T r.(?) p.(Arg1376Trp) Parent #2 g.98209214G>A - PTCH1_000018 rs143464326 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Argolis - Greek no - 1 Despoina Kalfakakou
-?/-? - c.4126C>T r.(?) p.(Arg1376Trp) Parent #2 g.98209214G>A - PTCH1_000018 rs143464326 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Greece Austria Greek no - 1 Despoina Kalfakakou
-?/-? - c.4126C>T r.(?) p.(Arg1376Trp) Parent #2 g.98209214G>A - PTCH1_000018 rs143464326 - Germline - - - - DNA SEQ-NG-I 1 CRC - M Trikala - Greek no - 1 Despoina Kalfakakou
-?/-? - c.4126C>T r.(?) p.(Arg1376Trp) Parent #2 g.98209214G>A - PTCH1_000018 rs143464326 - Germline - - - - DNA SEQ-NG-I 1 ColPol - M Athens Alexandria, Imathia Greek no - 6 Despoina Kalfakakou
-?/-? - c.4126C>T r.(?) p.(Arg1376Trp) Parent #2 g.98209214G>A - PTCH1_000018 rs143464326 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens Asia Minor Greek no - 1 Despoina Kalfakakou
-?/-? - c.4126C>T r.(?) p.(Arg1376Trp) Parent #2 g.98209214G>A - PTCH1_000018 rs143464326 - Germline - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.4126C>T r.(?) p.(Arg1376Trp) Parent #2 g.98209214G>A - PTCH1_000018 rs143464326 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 6 Despoina Kalfakakou
-?/-? - c.4126C>T r.(?) p.(Arg1376Trp) Parent #2 g.98209214G>A - PTCH1_000018 rs143464326 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Larisa Greek no - 1 Despoina Kalfakakou
-?/-? - c.4126C>T r.(?) p.(Arg1376Trp) Parent #2 g.98209214G>A - PTCH1_000018 rs143464326 - Germline - - - - DNA SEQ-NG-I 1 BrCa, CRC - F Kremastos, Kymi Mytikas, Lilantia, Evia Greek no - 7 Despoina Kalfakakou
-?/-? - c.4126C>T r.(?) p.(Arg1376Trp) Parent #2 g.98209214G>A - PTCH1_000018 rs143464326 - Germline - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.4126C>T r.(?) p.(Arg1376Trp) Parent #2 g.98209214G>A - PTCH1_000018 rs143464326 - Germline - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 3 Despoina Kalfakakou
-?/-? - c.4126C>T r.(?) p.(Arg1376Trp) Parent #2 g.98209214G>A - PTCH1_000018 rs143464326 - Germline - - - - DNA SEQ-NG-I 1 UtPol - F Chalkida Pontus Greek no - 3 Despoina Kalfakakou
-?/-? - c.4126C>T r.(?) p.(Arg1376Trp) Parent #2 g.98209214G>A - PTCH1_000018 rs143464326 - Germline - - - - DNA SEQ-NG-I 1 BrainCa, TRC - F Zoodochos Pigi, Euboea Chalkida Greek no - 1 Despoina Kalfakakou
-?/-? - c.4126C>T r.(?) p.(Arg1376Trp) Parent #2 g.98209214G>A - PTCH1_000018 rs143464326 - Germline - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Fragkata, Cephalonia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.4126C>T r.(?) p.(Arg1376Trp) Parent #2 g.98209214G>A - PTCH1_000018 rs143464326 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Karditsa - Greek no - 1 Despoina Kalfakakou
-?/-? - c.4126C>T r.(?) p.(Arg1376Trp) Parent #2 g.98209214G>A - PTCH1_000018 rs143464326 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.4126C>T r.(?) p.(Arg1376Trp) Parent #2 g.98209214G>A - PTCH1_000018 rs143464326 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chalkidiki - Greek no - 1 Despoina Kalfakakou
-?/-? - c.4126C>T r.(?) p.(Arg1376Trp) Parent #2 g.98209214G>A - PTCH1_000018 rs143464326 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Spercheiada, Phthiotis Karpenissi & Asia Minor Greek no - 1 Despoina Kalfakakou
-?/-? - c.4126C>T r.(?) p.(Arg1376Trp) Parent #2 g.98209214G>A - PTCH1_000018 rs143464326 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Athens Phthiotis Greek no - 1 Despoina Kalfakakou
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