Full data view for gene APC

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

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Review status     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Template     

Technique     

Date of test     

Lab     

Remarks     

Type of test     

Disease     

Ethnic origin     

Reference     

Remarks     

Cuadro familiar     

Panel size     

Owner     
-/- 15 c.5034G>A r.(=) p.(=) Hetero APC - Unknown g.112840628G>A - APC_000009 - - DNA SEQ-NG, z-score-CNV 3-may-2017 Héritas - - - European - - - 1 Alejandra Mampel-Hospital Universitario de Mendoza
-/- 15 c.5034G>A r.(=) p.(=) Hetero no - Unknown g.112840628G>A - APC_000009 - - DNA SEQ-NG 9-feb-2017 Genia - - - Italian - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 15 c.5034G>A r.(=) p.(=) Homo no - Unknown g.112840628G>A - APC_000009 - - DNA SEQ-NG 4-jul-2016 CEMIC - - Healthy/Control Spanish-Italian - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 15 c.5034G>A r.(=) p.(=) Hetero no - Unknown g.112840628G>A - APC_000009 - - DNA SEQ-NG 15-mar-2017 CEMIC - - - Spanish - - - 1 Alejandra Mampel-COIR
-/- 15 c.5034G>A r.(=) p.(=) Homo no - Unknown g.112840628G>A - APC_000009 - - DNA SEQ-NG 22-mar-2017 CEMIC - - - Spanish - - - 1 Pablo Kalfayan-CEMIC
-/- 15 c.5034G>A r.(=) p.(=) Homo no - Unknown g.112840628G>A - APC_000009 - - DNA SEQ-NG 9-may-2017 CEMIC - - - Spanish-Italian - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 15 c.5034G>A r.(=) p.(=) Homo APC - Unknown g.112840628G>A - APC_000009 - - DNA SEQ-NG 6-sep-2017 Genia - - - Spanish - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 15 c.5034G>A r.(=) p.(=) Homo APC - Unknown g.112840628G>A - APC_000009 - - DNA SEQ-NG 5-dec-2018 Dasa Genómica - Genia, Hospital Italiano de Buenos Aires - Specific pathology - Italian - CIA (antec personales/explica cuadro) - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 15 c.5034G>A r.(=) p.(=) Hetero MUTYH - Unknown g.112840628G>A - APC_000009 - - DNA SEQ-NG 16-apr-2019 Dasa Genómica - Genia, Hospital Italiano de Buenos Aires - Specific pathology - Spanish-Italian - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 15 c.5034G>A r.(=) p.(=) Homo no - Unknown g.112840628G>A - APC_000009 - - DNA SEQ-NG 22-mar-2019 Dasa Genómica - Genia, Hospital Italiano de Buenos Aires - Specific pathology -- Spanish - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 15 c.5034G>A r.(=) p.(=) Homo no - Unknown g.112840628G>A - APC_000009 - - DNA SEQ-NG 3-abr-2019 Dasa Genómica - Genia, Hospital Italiano de Buenos Aires - Specific pathology -- Italian - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 15 c.5034G>A r.(=) p.(=) Hetero no - Unknown g.112840628G>A - APC_000009 - - DNA CNV, SEQ-NG 28-mar-2018 IACA Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, SMAD4, STK11, TP53) Multigenetic panel Breast cancer Argentinian - - Breast cancer, Colon cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 16 c.5034G>A r.(=) p.(=) Hetero no - Unknown g.112840628G>A - APC_000009 rs42427 APC(NM_001127511.3):c.4980G>A p.(Gly1660=) DNA CNV, SEQ-NG 16-aug-2019 IACA Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, SMAD4, STK11, TP53, VHL) Multigenetic panel Breast cancer, Kidney cancer Spanish-Italian - - Breast cancer, Kidney cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 15 c.5034G>A r.(=) p.(=) Hetero no - Unknown g.112840628G>A - APC_000009 - - DNA SEQ-NG 22-nov-2019 Biogenotec Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51D, RAD51D, SMAD4, STK11, TP53, EPCAM) Multigenetic panel - Unknown - - - 1 Laura Vargas Roig-IMBECU
-/- 15 c.5034G>A r.(=) p.(=) Homo no - Unknown g.112840628G>A - APC_000009 - - DNA SEQ-NG 24-aug-2020 CEMIC - Specific pathology -- Spanish-Italian - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 15 c.5034G>A r.(=) p.(=) Homo no - Unknown g.112840628G>A - APC_000009 - - DNA CNV, SEQ-NG 27-nov-2019 Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) Multigenetic panel Colon cancer Spanish-Italian - - Colon cancer 1 Lina Nuñez-Private Practice
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