Full data view for gene EPCAM

Information The variants shown are described using the NM_002354.2 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

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     
-/- 8i c.904-12T>C p.(=) Hetero MLH1 r.(=) RECLASSIFIED JUNE 2019 Unknown g.47386560T>C - EPCAM_000004 - - DNA SEQ-NG 27-nov-2017 Genia - - -- Ashkenazi - - - 1 Pablo Kalfayan-Hospital Italiano
-/- 8i c.904-12T>C p.(=) Hetero no r.(=) - Unknown g.47386560T>C - EPCAM_000004 - - DNA SEQ-NG 28-feb-2019 Dasa Genómica - Genia, Hospital Italiano de Buenos Aires - Specific pathology -- Syrian - - - 1 Pablo Kalfayan-Hospital Italiano
-/- 8i c.904-12T>C p.(=) Hetero MLH1 r.(=) - Unknown g.47386560T>C - EPCAM_000004 - - DNA SEQ-NG 30-apr-2019 Dasa Genómica - Genia, Hospital Italiano de Buenos Aires - Specific pathology -- Spanish-Italian-French-Amerindian - CII (explica cuadro) - 1 Carlos Vaccaro-Hospital Italiano
./- 8i c.904-12T>C p.(=) Hetero no r.(=) - Unknown g.47386560T>C - EPCAM_000004 - - DNA CNV, SEQ-NG 21-may-2020 IACA Panel (ATM, BARD1, BRCA1/2, BRP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian-Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
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