All variants in the SOX11 gene

Information The variants shown are described using the NM_003108.3 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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.-55_*7338{0} r.0? p.0? - pathogenic (dominant) g.(?_4291420)_(6905655_?)del - - 2p25(4291420–6905655)(hg 19)x1 SOX11_000023 - PubMed: Hempel 2016 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. _1_ c.-55_*7338{0} r.0? p.0? - pathogenic (dominant) g.(?_5511851)_(16027633_?)del - - 2p25(5511851–16027633)x1 SOX11_000023 - PubMed: Hempel 2016 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. _1_ c.-55_*7338{0} r.0? p.0? - pathogenic (dominant) g.(?_5838893)_(7023548_?)del - - 2p25(5838893–7023548)(hg19)x1 SOX11_000023 - PubMed: Hempel 2016 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. _1_ c.-55_*7338{0} r.0? p.0? - pathogenic (dominant) g.(?_5535091)_(16398225_?)del - - 2p25(5535091–16398225)x1 SOX11_000023 - PubMed: Hempel 2016 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. _1_ c.-55_*7338{0} r.0? p.0? - pathogenic (dominant) g.(?_2231163)_(8300707_?)del - - 2p25(2231163–8300707)x1 SOX11_000023 - PubMed: Hempel 2016 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. _1_ c.-55_*7338{0} r.0? p.0? - pathogenic (dominant) g.(?_5209876)_(8078809_?)del - - 2p25(5209876–8078809)x1 SOX11_000023 - PubMed: Hempel 2016 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. _1_ c.-55_*7338{0} r.0? p.0? - pathogenic (dominant) g.(?_5166592)_(6400126_?)del - - 2p25(5166592–6400126)x1 SOX11_000023 - PubMed: Hempel 2016 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
?/. - c.49del r.(?) p.(Glu17Argfs*37) - VUS g.5832902del - SOX11(NM_003108.3):c.49delG (p.E17Rfs*37) - SOX11_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.87C>A r.(?) p.(Cys29*) - pathogenic (dominant) g.5832940C>A g.5692808C>A - - SOX11_000022 - PubMed: Hempel 2016 - - De novo - - - 0 - Johan den Dunnen
+/. 1 c.139G>A r.(?) p.(Gly47Ser) - likely pathogenic g.5832992G>A g.5692860G>A - - SOX11_000021 - - - - Germline - - - 0 - Hermann-Josef Lüdecke
+?/. - c.145A>C r.(?) p.(Ile49Leu) - likely pathogenic g.5832998A>C - SOX11(NM_003108.3):c.145A>C (p.I49L) - SOX11_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.150G>C r.(?) p.(Lys50Asn) - pathogenic (dominant) g.5833003G>C g.5692871G>C - - SOX11_000003 - PubMed: Hempel 2016 - - De novo - - - 0 - Alisdair McNeill
+?/. - c.152G>A r.(?) p.(Arg51Gln) - likely pathogenic g.5833005G>A g.5692873G>A SOX11(NM_003108.3):c.152G>A (p.R51Q) - SOX11_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 c.178T>C r.(?) p.(Ser60Pro) - likely pathogenic g.5833031T>C g.5692899T>C - - SOX11_000002 - PubMed: Tsurusaki 2014, Journal: Tsurusaki 2014 - - De novo - 1/92 cases - 0 - Yoshinori Tsurusaki
?/. - c.232G>C r.(?) p.(Glu78Gln) - VUS g.5833085G>C - SOX11(NM_003108.4):c.232G>C (p.E78Q) - SOX11_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.248T>C r.(?) p.(Leu83Pro) - VUS g.5833101T>C - - - SOX11_000029 - - - - De novo - - - - - Alejandro Brea-Fernández
?/. - c.305C>T r.(?) p.(Ala102Val) - VUS g.5833158C>T g.5693026C>T - - SOX11_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.323A>C r.(?) p.(Lys108Thr) - likely pathogenic g.5833176A>C g.5693044A>C - - SOX11_000010 - - - - Unknown - - - 0 - IMGAG
?/. - c.331G>A r.(?) p.(Ala111Thr) - VUS g.5833184G>A g.5693052G>A - - SOX11_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.340_348del r.(?) p.(Pro114_Tyr116del) - VUS g.5833193_5833201del g.5693061_5693069del SOX11(NM_003108.3):c.340_348delCCCGACTAC (p.P114_Y116del) - SOX11_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 1 c.347A>G r.(?) p.(Tyr116Cys) - likely pathogenic g.5833200A>G g.5693068A>G - - SOX11_000001 - PubMed: Tsurusaki 2014, Journal: Tsurusaki 2014 - - De novo - 1/92 cases - 0 - Yoshinori Tsurusaki
+/. 1 c.359C>A r.(?) p.(Pro120His) - pathogenic (dominant) g.5833212C>A g.5693080C>A - - SOX11_000004 - PubMed: Hempel 2016 - - De novo - - - 0 - Alisdair McNeill
-?/. - c.438_443del r.(?) p.(Gly147_Gly148del) - likely benign g.5833291_5833296del g.5693159_5693164del SOX11(NM_003108.4):c.438_443delCGGCGG (p.G147_G148del) - SOX11_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.441_443del r.(?) p.(Gly148del) - VUS g.5833294_5833296del g.5693162_5693164del SOX11(NM_003108.4):c.441_443delCGG (p.G148del) - SOX11_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.557C>T r.(?) p.(Ala186Val) - VUS g.5833410C>T g.5693278C>T - - SOX11_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.573C>A r.(?) p.(Tyr191*) - likely pathogenic g.5833426C>A - SOX11(NM_003108.3):c.573C>A (p.Y191*) - SOX11_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.589G>C r.(?) p.(Asp197His) - likely benign g.5833442G>C g.5693310G>C SOX11(NM_003108.3):c.589G>C (p.(Asp197His)) - SOX11_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.685G>A r.(?) p.(Asp229Asn) - VUS g.5833538G>A - SOX11(NM_003108.4):c.685G>A (p.D229N) - SOX11_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.696_701dup r.(?) p.(Asp232_Asp233dup) - VUS g.5833549_5833554dup - SOX11(NM_003108.4):c.696_701dupCGACGA (p.D232_D233dup) - SOX11_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.699_701del r.(?) p.(Asp233del) - likely benign g.5833552_5833554del g.5693420_5693422del SOX11(NM_003108.3):c.673_675del (p.(Asp225del)), SOX11(NM_003108.4):c.699_701delCGA (p.D233del) - SOX11_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.699_701del r.(?) p.(Asp233del) - likely benign g.5833552_5833554del g.5693420_5693422del SOX11(NM_003108.3):c.673_675del (p.(Asp225del)), SOX11(NM_003108.4):c.699_701delCGA (p.D233del) - SOX11_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.877dup r.(?) p.(Leu293ProfsTer105) - likely pathogenic g.5833730dup - SOX11(NM_003108.3):c.877dupC (p.L293Pfs*105) - SOX11_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.898G>C r.(?) p.(Gly300Arg) - VUS g.5833751G>C g.5693619G>C SOX11(NM_003108.4):c.898G>C (p.G300R) - SOX11_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.985C>A r.(?) p.(Pro329Thr) - VUS g.5833838C>A g.5693706C>A SOX11(NM_003108.3):c.985C>A (p.P329T) - SOX11_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1051_1062dup r.(?) p.(Ser351_Ser354dup) - likely benign g.5833904_5833915dup g.5693772_5693783dup SOX11(NM_003108.3):c.1031_1032insCAGCAGCAGCGG (p.(Ser351_Ser354dup)), SOX11(NM_003108.4):c.1051_1062dupAGCGGCAGCAGC (p.S351_S354dup) - SOX11_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1051_1062dup r.(?) p.(Ser351_Ser354dup) - likely benign g.5833904_5833915dup - SOX11(NM_003108.3):c.1031_1032insCAGCAGCAGCGG (p.(Ser351_Ser354dup)), SOX11(NM_003108.4):c.1051_1062dupAGCGGCAGCAGC (p.S351_S354dup) - SOX11_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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