View transcript #00000021

Transcript name epithelial cell adhesion molecule
Gene name EPCAM (epithelial cell adhesion molecule)
Chromosome 2
Transcript - NCBI ID NM_002354.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_002345.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

42 entries on 1 page. Showing entries 1 - 42.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     
+/+ 9 deletion of exon 9 . Hetero MSH2 .
+/+ 1 c.13C>T p.(Gln5*) Hetero N/A r.(?)
./- 1 c.50C>A p.(Thr17Lys) Hetero no r.(?)
./- 3 c.344T>C p.(Met115Thr) Homo no r.(?)
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?)
-/- 3 c.344T>C p.(Met115Thr) Hetero EPCAM r.(?)
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?)
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?)
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?)
./- 3 c.344T>C p.(Met115Thr) Homo no r.(?)
./- 3 c.344T>C p.(Met115Thr) Not specified no r.(?)
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?)
-/-? 3 c.344T>C p.(Met115Thr) Hetero no r.(?)
-/- 3 c.344T>C p.(Met115Thr) Homo MLH1 r.(?)
./- 3 c.344T>C p.(Met115Thr) Hetero BRCA2 r.(?)
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?)
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?)
./- 3 c.344T>C p.(Met115Thr) Hetero no r.(?)
-/-? 3 c.344T>C p.(Met115Thr) Homo no r.(?)
-/- 3 c.344T>C p.(Met115Thr) Hetero MLH1 r.(?)
-/-? 3 c.344T>C p.(Met115Thr) Hetero MLH1 r.(?)
./- 3 c.344T>C p.(Met115Thr) Not specified no r.(?)
./- 3 c.344T>C p.(Met115Thr) Homo no r.(?)
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?)
./- 3 c.344T>C p.(Met115Thr) Hetero no r.(?)
-/- 3 c.344T>C p.(Met115Thr) Hetero no r.(?)
-/-? 4i c.492-5T>C p.? Hetero no r.spl?
?/? 6 c.577A>G p.(Ile193Val) Hetero no r.(?)
?/? 6 c.640T>C p.(Tyr214His) Hetero no r.(?)
?/? 7 c.694G>A p.(Asp232Asn) Hetero no r.(?)
?/-? 7 c.831A>G p.(Ile277Met) Hetero BRCA2 r.(?)
./. 7i c.859-81C>T p.(=) Hetero no r.(=)
-/-? 7i c.859-81C>T p.(=) Homo no r.(=)
-/- 8i c.904-12T>C p.(=) Hetero no r.(=)
-/- 8i c.904-12T>C p.(=) Hetero MLH1 r.(=)
-/- 8i c.904-12T>C p.(=) Hetero MLH1 r.(=)
./- 8i c.904-12T>C p.(=) Hetero no r.(=)
-/-? 3'UTR c.*118T>C p.(=) Hetero no r.(=)
-/-? 3'UTR c.*118T>C p.(=) Hetero no r.(=)
-/-? 3'UTR c.*118T>C p.(=) Hetero MLH1 r.(=)
-/-? 3'UTR c.*118T>C p.(=) Hetero MLH1 r.(=)
-/-? 3'UTR c.*572C>G p.(=) Hetero MLH1 r.(=)
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