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.

5 entries on 1 page. Showing entries 1 - 5.
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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.307G>A likely pathogenic r.(?) p.(Gly103Arg) Unknown g.47601069G>A - EPCAM(NM_002354.2):c.307G>A (p.G103R) - EPCAM_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.307G>A pathogenic r.(?) p.(Gly103Arg) Unknown g.47601069G>A - EPCAM(NM_002354.2):c.307G>A (p.G103R) - EPCAM_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.307G>A pathogenic r.(?) p.(Gly103Arg) Both (homozygous) g.47601069G>A - - - EPCAM_000013 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 4 Salomon 2014 - M - Italy - - 0 - - 1 Mamata Sivagnanam
+/. 3 c.307G>A pathogenic r.(?) p.(Gly103Arg) Parent #2 g.47601069G>A - - - EPCAM_000013 - Tang 2016 - - Germline - - - 0 - DNA SEQ - - DIAR 1 Tang 2016 - F no China - - 0 - - 1 Mamata Sivagnanam
+/. 3 c.307G>A pathogenic r.(?) p.(Gly103Arg) Parent #1 g.47601069G>A - - - EPCAM_000013 - Sivagnanam, submitted - - Germline - - - 0 - DNA SEQ - - DIAR 4 Sivagnanam, submitted - M - United Kingdom (Great Britain);Italy - - 0 - - 1 Mamata Sivagnanam
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