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.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

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 at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 3 c.227C>G r.(?) p.(Ser76*) Both (homozygous) - pathogenic g.47600989C>G g.47373850C>G - - EPCAM_000039 - Theoni 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 1 Theoni 2014 - F yes - East Africa - 0 - - 1 Mamata Sivagnanam
+/. 3 c.227C>G r.(?) p.(Ser76*) Both (homozygous) - pathogenic g.47600989C>G g.47373850C>G - - EPCAM_000039 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 2 Salomon 2014 - F - Turkey - - 0 - - 1 Mamata Sivagnanam
+/. 3 c.227C>G r.(?) p.(Ser76*) Parent #1 - pathogenic g.47600989C>G g.47373850C>G - - EPCAM_000039 - Salomon 2014 - - Germline - - - 0 - DNA SEQ - - DIAR 3 Salomon 2014 - M - Italy - - 0 - - 1 Mamata Sivagnanam
+/. - c.227C>G r.(?) p.(Ser76*) Unknown - pathogenic g.47600989C>G - EPCAM(NM_002354.2):c.227C>G (p.S76*) - EPCAM_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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