All variants in the EPCAM gene


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

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+?/. 2i_9_ c.(184+1_185-1)_*415{0} r.? p.? ACMG likely pathogenic (dominant) g.(47600710_47600946)_(47672797_47690169)del - - - MSH2_001887 fusion EPCAM intron 2 with MSH2 intron 8 [NC_000002.11(NM_002354.2):c.(184+1_185-1)]_(1386+1_1387-1)del PubMed: Arnold 2020 - - Germline ? - - 0 - Andreas Laner
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