Transcript #00004810

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

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. _1 c.-472delA pathogenic r.(=) p.(=)
-/. _1 c.-472delA benign r.(=) p.(=)
+/. _1 c.-288delT pathogenic r.(=) p.(=)
+/. _1 c.-285C>A pathogenic r.(=) p.(=)
?/. _1 c.-126_-125delinsAA VUS r.(=) p.(=)
?/. 1 c.-84G>A VUS r.(=) p.(=)
?/. 1 c.-71C>G VUS r.(=) p.(=)
?/. 1 c.-71C>G VUS r.(=) p.(=)
?/. 1 c.-71C>G VUS r.(=) p.(=)
?/. 1 c.-71C>G VUS r.(=) p.(=)
?/. 1 c.-64G>T VUS r.(=) p.(=)
+/. 1 c.-54G>C pathogenic r.(=) p.(=)
-?/. - c.-54G>C likely benign r.(?) p.(=)
+/. 1 c.3G>A pathogenic r.(?) p.?
+/. 1 c.3G>C pathogenic r.? p.?
?/. 1 c.22C>T VUS r.(?) p.(Leu8Phe)
-?/. - c.27G>A likely benign r.(?) p.(=)
+/. 1 c.41delT pathogenic r.(?) p.(Leu14Argfs*42)
-?/. - c.41_46dup likely benign r.(?) p.(Leu14_Leu15dup)
+/. 1 c.44dupT pathogenic r.(?) p.(Gln16Alafs*18)
+?/. 1i c.48+1G>A ACMG: 5 r.spl? p.?
+/. 1i c.48+1G>A pathogenic r.spl p.?
+/. 1i c.48+1G>A pathogenic r.spl? p.?
-/. - c.48+5C>G benign r.spl? p.?
-?/. - c.48+5C>G likely benign r.spl? p.?
-/. - c.48+5C>G benign r.spl? p.?
-/. - c.48+6C>T benign r.(=) p.(=)
-/. - c.48+6C>T benign r.(=) p.(=)
-/. - c.48+6C>T benign r.(=) p.(=)
-?/. 1i c.48+7C>G likely benign r.(=) p.(=)
?/. 1i c.48+22G>A VUS r.(=) p.(=)
+/. 2 c.54delC pathogenic r.(?) p.(Ser19Leufs*37)
+/. 2 c.59G>A pathogenic r.(?) p.(Trp20*)
?/. - c.61C>G VUS r.(?) p.(Leu21Val)
+/. 2 c.70G>T pathogenic r.(?) p.(Glu24*)
?/. - c.80C>G VUS r.(?) p.(Pro27Arg)
./. 2 c.88C>A - r.(?) p.(Pro30Thr)
-?/. - c.88C>A likely benign r.(?) p.(Pro30Thr)
-?/. - c.88C>A likely benign r.(?) p.(Pro30Thr)
-?/. - c.88C>A likely benign r.(?) p.(Pro30Thr)
?/. - c.88C>A VUS r.(?) p.(Pro30Thr)
-?/. - c.88C>A likely benign r.(?) p.(Pro30Thr)
?/. 2 c.130C>A VUS r.(?) p.(Arg44Ser)
?/. 2 c.154C>T VUS r.(?) p.(=)
?/. - c.154C>T VUS r.(?) p.(=)
+/. - c.163+2T>A pathogenic r.spl? p.?
-/. 2i c.163+43G>T benign r.(=) p.(=)
./. 3 c.164T>G - r.spl? p?
-/. 3 c.185G>T benign r.(?) p.(Gly62Val)
-/. 3 c.185G>T benign r.(?) p.(Gly62Val)
+/. 3 c.185G>T pathogenic r.(?) p.(Gly62Val)
?/. - c.185G>T VUS r.(?) p.(Gly62Val)
-/. - c.185G>T benign r.(?) p.(Gly62Val)
+/. 3 c.187C>T pathogenic r.(?) p.(Arg63*)
+/. 3 c.190C>T pathogenic r.(?) p.(Gln64*)
./. 3 c.214G>A - r.(?) p.(Asp72Asn)
?/. 3 c.214G>A VUS r.(?) p.(Asp72Asn)
+/. 3 c.220C>T pathogenic r.(?) p.(Arg74*)
?/. 3 c.226A>G VUS r.(?) p.(Lys76Glu)
?/. - c.233G>A VUS r.(?) p.(Gly78Asp)
?/. 3 c.235A>G VUS r.(?) p.(Thr79Ala)
+/. 3 c.241_244dup pathogenic r.(?) p.(Val82Glyfs*13)
?/. - c.242_244del VUS r.(?) p.(Gly81del)
?/. - c.244G>T VUS r.(?) p.(Val82Leu)
?/. - c.269G>A VUS r.(?) p.(Arg90Gln)
+/. 3 c.283C>T pathogenic r.(?) p.(Gln95*)
+/. 3 c.283C>T pathogenic r.(?) p.(Gln95*)
?/. - c.294C>T VUS r.(?) p.(=)
?/. 3 c.298G>A VUS r.(?) p.(Val100Ile)
?/. 3 c.324A>G VUS r.(=) p.(=)
-?/. - c.324A>G likely benign r.(?) p.(=)
?/. 3 c.324A>G VUS r.(=) p.(=)
?/. 3 c.326A>T VUS r.(?) p.(Lys109Met)
-?/. - c.337A>G likely benign r.(?) p.(Lys113Glu)
?/. - c.344C>T VUS r.(?) p.(Thr115Met)
-/. - c.345G>A benign r.(?) p.(=)
?/. 3 c.345G>A VUS r.(=) p.(=)
-/. - c.345G>A benign r.(?) p.(=)
?/. 3 c.345G>A VUS r.(=) p.(=)
+/. 3 c.353C>G pathogenic r.(?) p.(Thr118Arg)
?/. 3 c.353C>T VUS r.(?) p.(Thr118Ile)
?/. 3 c.363C>G VUS r.(?) p.(His121Gln)
?/. - c.363C>G VUS r.(?) p.(His121Gln)
?/. 3 c.370C>T VUS r.(?) p.(Arg124Cys)
?/. 3 c.370C>T VUS r.(?) p.(Arg124Cys)
?/. - c.370C>T VUS r.(?) p.(Arg124Cys)
?/. - c.370C>T VUS r.(?) p.(Arg124Cys)
+/. 3 c.372_377del pathogenic r.(?) p.(Pro126_Pro127del)
?/. 3 c.374C>T VUS r.(?) p.(Pro125Leu)
-/. 3 c.377C>A benign r.(?) p.(Pro126Gln)
-/. 3 c.377C>A benign r.(?) p.(Pro126Gln)
?/. - c.377C>A VUS r.(?) p.(Pro126Gln)
+/. 3 c.377delC pathogenic r.(?) p.(Pro126Argfs*89)
+/. 3 c.377dup pathogenic r.(?) p.(Pro127Alafs*41)
-/. 3 c.378G>A benign r.(?) p.(=)
+/. 3 c.382delC pathogenic r.(?) p.(His128Ilefs*87)
+?/. 3i c.387+5G>A likely pathogenic r.spl? p.?
-?/. - c.387+18T>C likely benign r.(=) p.(=)
?/. 3i c.387+27C>T VUS r.(=) p.(=)
?/. 3i c.387+27C>T VUS r.(=) p.(=)
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