Transcript #00025358

Transcript name transcript variant 1
Gene name TPM1 (tropomyosin 1 (alpha))
Chromosome 15
Transcript - NCBI ID NM_001018005.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001018005.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

251 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-44_-4del likely benign r.(?) p.(=)
-/. - c.-13C>T benign r.(?) p.(=)
-?/. - c.-7C>A likely benign r.(?) p.(=)
+?/. - c.22A>G likely pathogenic r.(?) p.(Met8Val)
-?/. - c.27G>A likely benign r.(?) p.(=)
?/. - c.43A>G VUS r.(?) p.(Lys15Glu)
+?/. 1 c.45G>T likely pathogenic r.(?) p.(Lys15Asn)
+/. 1 c.61C>G pathogenic r.(?) p.(Arg21Gly)
+?/. - c.64G>A likely pathogenic r.(?) p.(Ala22Thr)
+?/. 1 c.67G>C likely pathogenic r.(?) p.(Glu23Gln)
?/. - c.82G>A VUS r.(?) p.(Asp28Asn)
?/. - c.82G>A VUS r.(?) p.(Asp28Asn)
?/. - c.97G>A VUS r.(?) p.(Glu33Lys)
?/. - c.105G>C - r.(?) p.(Arg35Ser)
+/. 1 c.109A>G pathogenic (dominant) r.(?) p.(Lys37Glu)
-/. - c.114+14C>T benign r.(=) p.(=)
-?/. - c.114+14C>T likely benign r.(=) p.(=)
-/. - c.114+14C>T benign r.(=) p.(=)
-?/. - c.114+14C>T likely benign r.(=) p.(=)
-?/. - c.114+14C>T likely benign r.(=) p.(=)
-/. - c.114+91G>A benign r.(=) p.(=)
-/. - c.115-319C>G benign r.(=) p.(=)
?/. - c.115-319C>G VUS r.(=) p.(=)
-/. - c.115-319C>G benign r.(=) p.(=)
-/. - c.115-316G>A benign r.(=) p.(=)
-?/. - c.115-316G>A likely benign r.(=) p.(=)
-?/. - c.115-316G>A likely benign r.(=) p.(=)
-?/. - c.115-316G>A likely benign r.(=) p.(=)
-?/. - c.115-288C>G likely benign r.(=) p.(=)
?/. - c.115-278C>T VUS r.(=) p.(=)
-?/. - c.115-277G>A likely benign r.(=) p.(=)
-/. - c.115-277G>A benign r.(=) p.(=)
-/. - c.115-262C>T benign r.(=) p.(=)
-/. - c.115-235G>A benign r.(=) p.(=)
?/. - c.115-233A>T VUS r.(=) p.(=)
-?/. - c.115-207G>A likely benign r.(=) p.(=)
-/. - c.115-189G>T benign r.(=) p.(=)
-/. - c.115-184G>A benign r.(=) p.(=)
-/. - c.115-32del benign r.(=) p.(=)
?/. - c.115-14T>A VUS r.(=) p.(=)
+/. 2 c.118G>A pathogenic r.(?) p.(Glu40Lys)
-?/. - c.120A>G likely benign r.(?) p.(=)
+/. 2 c.160G>A pathogenic r.(?) p.(Glu54Lys)
?/. - c.169C>G VUS r.(?) p.(Leu57Val)
+/. 2 c.172G>C pathogenic r.(?) p.(Asp58His)
-/. - c.177A>G benign r.(?) p.(=)
-/. - c.180C>T benign r.(?) p.(=)
-/. - c.180C>T benign r.(?) p.(=)
-/. - c.180C>T benign r.(?) p.(=)
-?/. - c.180C>T likely benign r.(?) p.(=)
+/. - c.184G>C pathogenic r.(?) p.(Glu62Gln)
+/. - c.184G>C pathogenic r.(?) p.(Glu62Gln)
+/. 2 c.184G>C pathogenic r.(?) p.(Glu62Gln)
+/. - c.184G>C pathogenic r.(?) p.(Glu62Gln)
+/. - c.184G>C pathogenic r.(?) p.(Glu62Gln)
+/. 2 c.188C>T pathogenic r.(?) p.(Ala63Val)
+/. 2 c.209A>C pathogenic r.(?) p.(Lys70Thr)
+/. 2 c.209A>C pathogenic r.(?) p.(Lys70Thr)
?/. - c.235A>G VUS r.(?) p.(Thr79Ala)
-/. - c.240+21C>T benign r.(=) p.(=)
-/. - c.240+21C>T benign r.(=) p.(=)
?/. - c.240+4296A>G VUS r.(=) p.(=)
-/. - c.240+4296A>G benign r.(=) p.(=)
-/. - c.240+4354C>T benign r.(=) p.(=)
?/. - c.240+4424A>T VUS r.(=) p.(=)
?/. - c.240+4449C>T VUS r.(=) p.(=)
-?/. - c.240+4465C>G likely benign r.(=) p.(=)
-?/. - c.240+4465C>G likely benign r.(=) p.(=)
+/. 2i c.240+4470G>T pathogenic r.(?) p.(Ser81-29Ile)
?/. - c.240+4498G>T VUS r.(=) p.(=)
?/. - c.240+4498G>T VUS r.(=) p.(=)
-?/. - c.240+4505_240+4506delinsTT likely benign r.(=) p.(=)
-?/. - c.240+4506C>T likely benign r.(=) p.(=)
?/. - c.240+4512C>T VUS r.(=) p.(=)
?/. - c.240+4534C>T VUS r.(=) p.(=)
-?/. - c.240+4534C>T likely benign r.(=) p.(=)
-?/. - c.240+4544C>A likely benign r.(=) p.(=)
-/. - c.240+4572T>A benign r.(=) p.(=)
-/. - c.241-88G>A benign r.(=) p.(=)
-/. - c.241-52T>A benign r.(=) p.(=)
-/. - c.241-19C>G benign r.(=) p.(=)
+/. 2i c.241-12_241-11delinsTG pathogenic r.spl? p.?
-/. - c.241-8C>T benign r.(=) p.(=)
-?/. - c.241-8C>T likely benign r.(=) p.(=)
+?/. - c.250G>A likely pathogenic r.(?) p.(Asp84Asn)
+?/. - c.250G>A likely pathogenic r.(?) p.(Asp84Asn)
+/. - c.250G>A pathogenic r.(?) p.(Asp84Asn)
+?/. - c.251A>C - r.(?) p.(Asp84Ala)
?/. - c.253G>A VUS r.(?) p.(Val85Ile)
+/. 3 c.275T>C pathogenic r.(?) p.(Ile92Thr)
+/. - c.284T>C pathogenic r.(?) p.(Val95Ala)
+/. 3 c.284T>C pathogenic r.(?) p.(Val95Ala)
+/. 3 c.284T>C pathogenic r.(?) p.(Val95Ala)
?/. - c.314G>A VUS r.(?) p.(Arg105His)
?/. - c.340G>C VUS r.(?) p.(Glu114Gln)
-/. - c.374+65del benign r.(=) p.(=)
-/. - c.374+65del benign r.(=) p.(=)
-/. - c.375-75A>G benign r.(=) p.(=)
-?/. - c.375-5T>C likely benign r.spl? p.?
-/. - c.375-5T>C benign r.spl? p.?
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