Transcript #00004810 (NM_004360.3, CDH1 gene)

Transcript name cadherin 1, type 1, E-cadherin (epithelial)
Gene name CDH1 (cadherin 1, type 1, E-cadherin (epithelial))
Chromosome 16
Transcript - NCBI ID NM_004360.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_004351.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

698 entries on 7 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. _1 c.-472delA r.(=) p.(=)
-/. _1 c.-472delA r.(=) p.(=)
+/. _1 c.-288delT r.(=) p.(=)
+/. _1 c.-285C>A r.(=) p.(=)
?/. _1 c.-126_-125delinsAA r.(=) p.(=)
?/. 1 c.-84G>A r.(=) p.(=)
?/. 1 c.-71C>G r.(=) p.(=)
?/. 1 c.-71C>G r.(=) p.(=)
?/. 1 c.-71C>G r.(=) p.(=)
?/. 1 c.-71C>G r.(=) p.(=)
?/. 1 c.-64G>T r.(=) p.(=)
+/. 1 c.-54G>C r.(=) p.(=)
-?/. - c.-54G>C r.(?) p.(=)
+/. 1 c.3G>A r.(?) p.(Met1?)
+/. 1 c.3G>C r.(?) p.(Met1?)
?/. 1 c.22C>T r.(?) p.(Leu8Phe)
-?/. - c.27G>A r.(?) p.(Ser9=)
-?/. - c.27G>A r.(?) p.(Ser9=)
+/. 1 c.41del r.(?) p.(Leu14Argfs*42)
-?/. - c.41_46dup r.(?) p.(Leu14_Leu15dup)
+/. 1 c.44dup r.(?) p.(Gln16Alafs*18)
-?/. - c.44_46del r.(?) p.(Leu15del)
+?/. 1i c.48+1G>A r.spl? p.?
+/. 1i c.48+1G>A r.spl p.?
+/. 1i c.48+1G>A r.spl? p.?
-/. - c.48+5C>G r.spl? p.?
-?/. - c.48+5C>G r.spl? p.?
-/. - c.48+5C>G r.spl? p.?
-/. 1i c.48+6C>T r.(?) p.(=)
-/. 1i c.48+6C>T r.(?) p.(=)
-/. 1i c.48+6C>T r.(?) p.(=)
-/. 1i c.48+6C>T r.(?) p.(=)
-/. - c.48+6C>T r.(=) p.(=)
-/. - c.48+6C>T r.(=) p.(=)
-/. - c.48+6C>T r.(?) p.(=)
-/. - c.48+6C>T r.(=) p.(=)
-?/. 1i c.48+7C>G r.(=) p.(=)
?/. 1i c.48+22G>A r.(=) p.(=)
+/. 2 c.54del r.(?) p.(Ser19Leufs*37)
+/. 2 c.59G>A r.(?) p.(Trp20*)
+/. - c.60G>A r.(?) p.(Trp20*)
+/. - c.60G>A r.(?) p.(Trp20*)
?/. - c.61C>G r.(?) p.(Leu21Val)
+/. 2 c.70G>T r.(?) p.(Glu24*)
+/. - c.76G>T r.(?) p.(Glu26*)
?/. - c.80C>G r.(?) p.(Pro27Arg)
./. 2 c.88C>A r.(?) p.(Pro30Thr)
-?/. - c.88C>A r.(?) p.(Pro30Thr)
-?/. - c.88C>A r.(?) p.(Pro30Thr)
-?/. - c.88C>A r.(?) p.(Pro30Thr)
?/. - c.88C>A r.(?) p.(Pro30Thr)
-?/. - c.88C>A r.(?) p.(Pro30Thr)
?/. 2 c.130C>A r.(?) p.(Arg44Ser)
?/. 2 c.154C>T r.(?) p.(=)
?/. - c.154C>T r.(?) p.(=)
+/. - c.163+2T>A r.spl? p.?
-/. 2i c.163+43G>T r.(=) p.(=)
-/. 2i c.164-14627G>A r.(?) p.(=)
-/. 2i c.164-14627G>A r.(?) p.(=)
?/. - c.164-32A>G r.spl? p.(=)
./. 3 c.164T>G r.spl? p?
-/. 3 c.185G>T r.(?) p.(Gly62Val)
-/. 3 c.185G>T r.(?) p.(Gly62Val)
+/. 3 c.185G>T r.(?) p.(Gly62Val)
?/. - c.185G>T r.(?) p.(Gly62Val)
-/. - c.185G>T r.(?) p.(Gly62Val)
+/. 3 c.187C>T r.(?) p.(Arg63*)
+/. - c.187C>T r.(?) p.(Arg63*)
-/. 3 c.188G>A r.(?) p.(Arg63Gln)
+/. 3 c.190C>T r.(?) p.(Gln64*)
./. 3 c.214G>A r.(?) p.(Asp72Asn)
?/. 3 c.214G>A r.(?) p.(Asp72Asn)
+/. 3 c.220C>T r.(?) p.(Arg74*)
?/. 3 c.226A>G r.(?) p.(Lys76Glu)
?/. - c.233G>A r.(?) p.(Gly78Asp)
?/. 3 c.235A>G r.(?) p.(Thr79Ala)
+/. 3 c.241_244dup r.(?) p.(Val82Glyfs*13)
?/. - c.242_244del r.(?) p.(Gly81del)
?/. - c.244G>T r.(?) p.(Val82Leu)
?/. - c.269G>A r.(?) p.(Arg90Gln)
+/. 3 c.283C>T r.(?) p.(Gln95*)
+/. 3 c.283C>T r.(?) p.(Gln95*)
?/. - c.294C>T r.(?) p.(=)
?/. 3 c.298G>A r.(?) p.(Val100Ile)
-?/. - c.303C>T r.(?) p.(Tyr101=)
?/. 3 c.324A>G r.(=) p.(=)
-?/. - c.324A>G r.(?) p.(Arg108=)
?/. 3 c.324A>G r.(=) p.(=)
?/. 3 c.326A>T r.(?) p.(Lys109Met)
+/. - c.326del r.(?) p.(Lys109Serfs*8)
-?/. - c.337A>G r.(?) p.(Lys113Glu)
?/. - c.344C>T r.(?) p.(Thr115Met)
-/. - c.345G>A r.(?) p.(Thr115=)
?/. 3 c.345G>A r.(=) p.(=)
-/. - c.345G>A r.(?) p.(Thr115=)
-/. - c.345G>A r.(?) p.(Thr115=)
?/. 3 c.345G>A r.(=) p.(=)
+/. 3 c.353C>G r.(?) p.(Thr118Arg)
?/. 3 c.353C>T r.(?) p.(Thr118Ile)
+?/. 3 c.360del r.(?) p.(His121Thrfs*94)
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