Transcript #00001031

Transcript name thrombospondin-type laminin G domain and EAR repeats
Gene name TSPEAR (thrombospondin-type laminin G domain and EAR repeats)
Chromosome 21
Transcript - NCBI ID NM_144991.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_659428.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

35 entries on 1 page. Showing entries 1 - 35.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.44C>T likely benign r.(?) p.(Ala15Val)
-/. - c.51C>T benign r.(?) p.(=)
-?/. - c.57C>T likely benign r.(?) p.(=)
?/. - c.82+64497G>A VUS r.(=) p.(=)
?/. - c.83-59839_83-59825del VUS r.(=) p.(=)
-?/. - c.83-59639T>G likely benign r.(=) p.(=)
?/. - c.83-59316C>T VUS r.(=) p.(=)
?/. - c.83-45718G>C - - p.(=)
?/. - c.83-24475T>C VUS r.(=) p.(=)
?/. - c.83-24474G>A VUS r.(=) p.(=)
-?/. - c.83-24331_83-24330insAGCTGCTGCGCCCCC likely benign r.(=) p.(=)
-?/. - c.83-24267_83-24265del likely benign r.(=) p.(=)
-?/. - c.151G>A likely benign r.(?) p.(Val51Ile)
-?/. - c.303+9170A>G likely benign r.(=) p.(=)
-?/. - c.303+16424A>G likely benign r.(=) p.(=)
-?/. - c.303+16427C>G likely benign r.(=) p.(=)
-?/. - c.304-5752_304-5751insCA likely benign r.(=) p.(=)
-?/. - c.343G>A likely benign r.(?) p.(Asp115Asn)
?/. - c.364C>T VUS r.(?) p.(Arg122Trp)
+/. - c.589C>T pathogenic r.(?) p.(Arg197*)
?/. - c.614G>C VUS r.(?) p.(Arg205Thr)
+?/. - c.633+2C>T likely pathogenic r.spl? p.?
?/. - c.668C>T VUS r.(?) p.(Ser223Leu)
?/. - c.673G>A VUS r.(?) p.(Ala225Thr)
-?/. - c.714G>A likely benign r.(?) p.(=)
?/. - c.872G>A VUS r.(?) p.(Arg291Gln)
-?/. - c.1017G>A likely benign r.(?) p.(=)
+/. - c.1273C>T pathogenic r.(?) p.(Arg425*)
?/. - c.1329C>A VUS r.(?) p.(His443Gln)
-?/. - c.1335A>G likely benign r.(?) p.(=)
-?/. - c.1566+5G>A likely benign r.spl? p.?
-?/. - c.1746C>T likely benign r.(?) p.(=)
-?/. - c.1755-7C>T likely benign r.(=) p.(=)
?/. - c.1879G>A VUS r.(?) p.(Val627Met)
?/. - c.1915G>A VUS r.(?) p.(Asp639Asn)
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