Full data view for gene EPCAM


NOTE: alias for geneID is TACSTD1
Information The variants shown are described using the NM_002354.2 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.344T>C benign r.(?) p.(Met115Thr) Unknown g.47601106T>C - EPCAM(NM_002354.2):c.344T>C (p.M115T) - EPCAM_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 3 c.344T>C benign r.(?) p.(Met115Thr) Parent #1 g.47601106T>C - - - EPCAM_000014 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. - c.344T>C benign r.(?) p.(Met115Thr) Unknown g.47601106T>C g.47373967T>C - - EPCAM_000014 - - - - Germline - - - 0 - DNA SEQ-NG - - cancer, colon contributed by Dept. of Dr Vaccaro - - - - Argentina - - 0 - - 1 Carlos Vaccaro
-/. 3 c.344T>C benign r.(?) p.(Met115Thr) Unknown g.47601106T>C g.47373967T>C - - EPCAM_000014 - - - - Germline - - - 0 - DNA SEQ, SEQ-NG - gene panel cancer, breast - - - - - Argentina - - 0 - - 1 Maximiliano Zeballos
-/. 3 c.344T>C benign r.(?) p.(Met115Thr) Unknown g.47601106T>C g.47373967T>C - - EPCAM_000014 - - - - Germline - - - 0 - DNA SEQ, SEQ-NG - gene panel cancer - - - - - Argentina Argentina - 0 - - 1 Maximiliano Zeballos
-/. 3 c.344T>C benign r.(?) p.(Met115Thr) Unknown g.47601106T>C g.47373967T>C - - EPCAM_000014 - - - - Germline - - - 0 - DNA SEQ, SEQ-NG - gene panel cancer, colon - - - - - Argentina - - 0 - - 1 Maximiliano Zeballos
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