Unique variants in gene SPG20

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

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Reported     

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     
-/. 1 - c.-2-10949G>C benign r.(=) p.(=) g.36920918C>G - SPG20:NM_001142295.1:c.-202G>C (?) - SPG20_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.-2-10921C>G benign r.(=) p.(=) g.36920890G>C - SPG20:NM_001142295.1:c.-174C>G (?) - SPG20_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.84C>T likely benign r.(=) p.(=) g.36909884G>A - SPG20:c.84C>T (N28=) - SPG20_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.235C>T likely pathogenic r.(?) p.(Gln79*) g.36909733G>A - SPG20:NM_001142296.1:c.235C>T (Gln79*) - SPG20_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.361G>T likely benign r.(?) p.(Asp121Tyr) g.36909607C>A - SPG20:c.361G>T (D121Y) - SPG20_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.363C>T likely benign r.(=) p.(=) g.36909605G>A - SPG20:c.363C>T (D121=) - SPG20_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.365del pathogenic r.(?) p.(Met122Serfs*20) g.36909603del - SPG20:NM_001142296.1:c.364_365del (Met122fs) - SPG20_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.449C>T likely benign r.(?) p.(Ala150Val) g.36909519G>A - SPG20:c.449C>T (A150V) - SPG20_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.466C>T likely benign r.(?) p.(Pro156Ser) g.36909502G>A - SPG20:c.466C>T (P156S) - SPG20_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.685C>T pathogenic r.(?) p.(Gln229*) g.36909283G>A - SPG20:NM_015087.4:c.685C>T (Gln229*) - SPG20_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.927C>T likely benign r.(=) p.(=) g.36905617G>A - SPG20:c.927C>T (V309=) - SPG20_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1028A>C likely benign r.(?) p.(Glu343Ala) g.36903635T>G - SPG20:c.1028A>C (E343A) - SPG20_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1424A>T VUS r.(?) p.(Lys475Met) g.36888423T>A - SPG20:c.1424A>T (K475M) - SPG20_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1450_1451insA pathogenic (recessive) r.(?) p.(Thr484Asnfs*13) g.36888396_36888397insT - 1450_1451insA - SPG20_000016 - PubMed: Alazami 2015, Journal: Alazami 2015 - - Germline yes - - - - Johan den Dunnen
-/. 1 - c.1629A>G benign r.(=) p.(=) g.36886469T>C - SPG20:NM_015087.4:c.1629A>G (=) - SPG20_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/., ?/. 2 - c.1796dup likely pathogenic, VUS r.(?) p.(Thr600Asnfs*6) g.36878707dup - SPG20:NM_001142294.1:c.1796_1797insT, NM_001142295.1:c.1796_1797insT, …, 1 more item - SPG20_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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