Transcript #00020171

Transcript name transcript variant 4
Gene name SPG20 (spastic paraplegia 20 (Troyer syndrome))
Chromosome 13
Transcript - NCBI ID NM_001142294.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001135766.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

17 entries on 1 page. Showing entries 1 - 17.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-2-10949G>C benign r.(=) p.(=)
-/. - c.-2-10921C>G benign r.(=) p.(=)
-?/. - c.84C>T likely benign r.(=) p.(=)
+?/. - c.235C>T likely pathogenic r.(?) p.(Gln79*)
-?/. - c.361G>T likely benign r.(?) p.(Asp121Tyr)
-?/. - c.363C>T likely benign r.(=) p.(=)
+/. - c.365del pathogenic r.(?) p.(Met122Serfs*20)
-?/. - c.449C>T likely benign r.(?) p.(Ala150Val)
-?/. - c.466C>T likely benign r.(?) p.(Pro156Ser)
+/. - c.685C>T pathogenic r.(?) p.(Gln229*)
-?/. - c.927C>T likely benign r.(=) p.(=)
-?/. - c.1028A>C likely benign r.(?) p.(Glu343Ala)
?/. - c.1424A>T VUS r.(?) p.(Lys475Met)
+/. - c.1450_1451insA pathogenic (recessive) r.(?) p.(Thr484Asnfs*13)
-/. - c.1629A>G benign r.(=) p.(=)
+?/. - c.1796dup likely pathogenic r.(?) p.(Thr600Asnfs*6)
?/. - c.1796dup VUS r.(?) p.(Thr600Asnfs*6)
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