All transcript variants in gene SPG20

Information The variants shown are described using the NM_001142294.1 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. - c.-2-10949G>C benign r.(=) p.(=) g.36920918C>G - SPG20(NM_001142295.1):c.-202G>C (p.?) - SPG20_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-2-10921C>G benign r.(=) p.(=) g.36920890G>C - SPG20(NM_001142295.1):c.-174C>G (p.?) - SPG20_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.84C>T likely benign r.(?) p.(=) g.36909884G>A - SPG20(NM_015087.4):c.84C>T (p.N28=) - SPG20_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.235C>T likely pathogenic r.(?) p.(Gln79*) g.36909733G>A - SPG20(NM_001142296.1):c.235C>T (p.Gln79*) - SPG20_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.361G>T likely benign r.(?) p.(Asp121Tyr) g.36909607C>A - SPART(NM_015087.4):c.361G>T (p.D121Y), SPG20(NM_015087.4):c.361G>T (p.D121Y) - SPG20_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.361G>T likely benign r.(?) p.(Asp121Tyr) g.36909607C>A - SPART(NM_015087.4):c.361G>T (p.D121Y), SPG20(NM_015087.4):c.361G>T (p.D121Y) - SPG20_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.363C>T likely benign r.(?) p.(=) g.36909605G>A - SPG20(NM_015087.4):c.363C>T (p.D121=) - SPG20_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.449C>T likely benign r.(?) p.(Ala150Val) g.36909519G>A - SPG20(NM_015087.4):c.449C>T (p.A150V) - SPG20_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.466C>T likely benign r.(?) p.(Pro156Ser) g.36909502G>A - SPG20(NM_015087.4):c.466C>T (p.P156S) - SPG20_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.685C>T pathogenic r.(?) p.(Gln229*) g.36909283G>A - SPG20(NM_015087.4):c.685C>T (p.Gln229*) - SPG20_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.927C>T likely benign r.(?) p.(=) g.36905617G>A - SPG20(NM_015087.4):c.927C>T (p.V309=) - SPG20_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1028A>C likely benign r.(?) p.(Glu343Ala) g.36903635T>G - SPG20(NM_015087.4):c.1028A>C (p.E343A) - SPG20_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1033_1035del VUS r.(?) p.(Glu345del) g.36903635_36903637del - SPG20(NM_015087.4):c.1033_1035delGAA (p.E345del) - SPG20_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.1087_1088del likely pathogenic r.(?) p.(Glu363Serfs*5) g.36903576_36903577del - SPG20(NM_015087.4):c.1087_1088delGA (p.E363Sfs*5) - SPG20_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1093T>C likely benign r.(?) p.(Ser365Pro) g.36903570A>G - SPG20(NM_015087.4):c.1093T>C (p.S365P) - SPG20_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.1369C>T likely pathogenic r.(?) p.(Arg457*) g.36888478G>A - SPG20(NM_015087.4):c.1369C>T (p.R457*) - SPG20_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1424A>T VUS r.(?) p.(Lys475Met) g.36888423T>A - SPG20(NM_015087.4):c.1424A>T (p.K475M) - SPG20_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.1450_1451insA pathogenic (recessive) r.(?) p.(Thr484Asnfs*13) g.36888396_36888397insT - 1450_1451insA - SPG20_000016 - PubMed: Alazami 2015, Journal: Alazami 2015 - - Germline yes - - 0 - Johan den Dunnen
-/. - c.1629A>G benign r.(?) p.(=) g.36886469T>C - SPG20(NM_015087.4):c.1629A>G (p.=) - SPG20_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1796dup VUS r.(?) p.(Thr600Asnfs*6) g.36878707dup - SPG20(NM_001142294.1):c.1796dupT (p.(Thr600AsnfsTer6), p.?) - SPG20_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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