All variants in the SERPINB6 gene

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

25 entries on 1 page. Showing entries 1 - 25.
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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     
-/. - c.-43A>G r.(?) p.(=) - benign g.2969045T>C - - - SERPINB6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/-? 3 c.18A>G r.(?) p.(=) - likely benign g.2959549T>C g.2959315T>C - - SERPINB6_000027 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-/. - c.54G>A r.(?) p.(Thr18=) - benign g.2959513C>T g.2959279C>T SERPINB6(NM_001195291.3):c.66G>A (p.T22=) - SERPINB6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/? 3 c.121G>A r.(?) p.(Ala41Thr) - VUS g.2959446C>T g.2959212C>T - - SERPINB6_000003 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. - c.121G>A r.(?) p.(Val41Ile) - VUS g.2959446C>T - SERPINB6(NM_001297699.1):c.121G>A (p.V41I) - SERPINB6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/-? 3 c.125A>C r.(?) p.(Tyr42Ser) - likely benign g.2959442T>G g.2959208T>G - - SERPINB6_000026 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. - c.187G>A r.(?) p.(Gly63Ser) - VUS g.2955883C>T g.2955649C>T SERPINB6(NM_001297699.1):c.187G>A (p.G63S) - SERPINB6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/-? 4 c.187G>A r.(?) p.(Gly63Ser) - likely benign g.2955883C>T g.2955649C>T - - SERPINB6_000015 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. - c.217C>T r.(?) p.(Gln73Ter) - VUS g.2955853G>A g.2955619G>A - - SERPINB6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.314C>A r.(?) p.(Ser105Tyr) - VUS g.2954942G>T g.2954708G>T SERPINB6(NM_001195291.2):c.326C>A (p.S109Y) - SERPINB6_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/-? 5 c.343C>G r.(?) p.(Gln115Glu) - likely benign g.2954913G>C g.2954679G>C - - SERPINB6_000025 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/-? 5 c.379G>A r.(?) p.(Val127Ile) - likely benign g.2954877C>T g.2954643C>T - - SERPINB6_000024 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/-? 5i c.430+3G>A r.spl? p.? - likely benign g.2954823C>T g.2954589C>T - - SERPINB6_000023 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/? 4i c.431-12T>G r.spl? p.(=) - VUS g.2953432A>C g.2953198A>C - - SERPINB6_000022 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. - c.441G>A r.(?) p.(Ala147=) - likely benign g.2953410C>T g.2953176C>T SERPINB6(NM_001195291.2):c.453G>A (p.A151=) - SERPINB6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/-? 6 c.460T>G r.(?) p.(Ser154Ala) - likely benign g.2953391A>C g.2953157A>C - - SERPINB6_000021 - MORL Deafness Variation Database, PubMed: Sirmaci 2010, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
?/. - c.668A>C r.(?) p.(Tyr223Ser) - VUS g.2949209T>G - SERPINB6(NM_001297699.1):c.668A>C (p.Y223S) - SERPINB6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.728C>T r.(?) p.(Thr243Met) - VUS g.2949149G>A - SERPINB6(NM_001297699.1):c.728C>T (p.T243M) - SERPINB6_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.946G>A r.(?) p.(Val316Met) - VUS g.2948717C>T g.2948483C>T SERPINB6(NM_001297699.1):c.946G>A (p.V316M) - SERPINB6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1022G>A r.(?) p.(Arg341Gln) - pathogenic (recessive) g.2948641C>T g.2948407C>T 1079G>A (Arg360Gln) - SERPINB6_000031 - PubMed: Mahmood 2021 - - Germline - - - - - Johan den Dunnen
-?/. - c.1036G>A r.(?) p.(Val346Ile) - likely benign g.2948627C>T g.2948393C>T SERPINB6(NM_001195291.2):c.1048G>A (p.V350I) - SERPINB6_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/-? 8 c.1095C>T r.(=) p.(=) - likely benign g.2948568G>A g.2948334G>A - - SERPINB6_000020 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
-?/. - c.1095C>T r.(?) p.(Asn365=) - likely benign g.2948568G>A - SERPINB6(NM_001297699.1):c.1095C>T (p.N365=) - SERPINB6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1110C>T r.(?) p.(Cys370=) - likely benign g.2948553G>A g.2948319G>A SERPINB6(NM_001297699.1):c.1110C>T (p.C370=) - SERPINB6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/-? 8 c.1128G>A r.(?) p.(=) - likely benign g.2948535C>T g.2948301C>T - - SERPINB6_000019 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - Global Variome, with Curator vacancy
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