Full data view for gene SSBP1

Information The variants shown are described using the NM_003143.2 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.320G>A r.(?) p.(Arg107Gln) Paternal (confirmed) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Del Doto 2019 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family1/Pt 2 PubMed: Del Doto 2019 Patient 2 (Pt 2) from Family 1: 3-generation family, 2 affected father and son M no Italy - - - - - 2 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Parent #1 - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Del Doto 2019 - - De novo yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/Pt 1 PubMed: Del Doto 2019 Patient 1 (Pt 1) from Family 1: 3-generation family, 2 affected father and son M no Italy - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Parent #1 - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Jurkute 2021 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG - - neuropathy, optic family 3/ Individual III:3 PubMed: Jurkute 2021 Individual III:3 from Family 3: 3-generation family, 1 affected : son. M no - - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Parent #1 - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Piro 2020 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG - - neuropathy, optic Family C/Pt I PubMed: Piro 2020 Patient (Pt) I from Family C: 2-generation family 1 affected. M no Germany - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Maternal (inferred) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family D/Pt I PubMed: Piro 2020 Patient (Pt) I from Family D: 4-generation family 5 affected, great grandfather, grandmother, great-uncle, mother and son F no Germany - - - - - 2 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Parent #1 - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Piro 2020 - - De novo ? - - - - DNA SEQ-NG - - neuropathy, optic Family E/Pt I PubMed: Piro 2020 Patient (Pt) I from Family E: 2-generation family 1 affected, daughter. F - Germany - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Paternal (inferred) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Jurkute 2019 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/Pt III:8 PubMed: Jurkute 2019 Patient (Pt) III:8 from Family 1: 5-generation family, 23 affected. M no - - - - - - 11 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Paternal (inferred) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Jurkute 2019 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/Pt III:16 PubMed: Jurkute 2019 Patient (Pt) III:16 from Family 1: 5-generation family, 23 affected. M no - - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Paternal (confirmed) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Jurkute 2019 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/Pt IV:3 PubMed: Jurkute 2019 Patient (Pt) IV:3 from Family 1: 5-generation family, 23 affected. F no - - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Paternal (confirmed) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Jurkute 2019 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/Pt IV:7 PubMed: Jurkute 2019 Patient (Pt) IV:3 from Family 1: 5-generation family, 23 affected. M no - - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Paternal (confirmed) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Jurkute 2019 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/Pt IV:8 PubMed: Jurkute 2019 Patient (Pt) IV:8 from Family 1: 5-generation family, 23 affected. F no - - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Paternal (inferred) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Jurkute 2019 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/Pt IV:12 PubMed: Jurkute 2019 Patient (Pt) IV:12 from Family 1: 5-generation family, 23 affected. F no - - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Paternal (inferred) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Jurkute 2019 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/Pt IV:14 PubMed: Jurkute 2019 Patient (Pt) IV:14 from Family 1: 5-generation family, 23 affected. F no - - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Paternal (inferred) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Jurkute 2019 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/Pt IV:18 PubMed: Jurkute 2019 Patient (Pt) IV:18 from Family 1: 5-generation family, 23 affected. F no - - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Maternal (confirmed) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Jurkute 2019 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/Pt V:2 PubMed: Jurkute 2019 Patient (Pt) V:2 from Family 1: 5-generation family, 23 affected. F no - - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Maternal (confirmed) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Jurkute 2019 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/Pt V:5 PubMed: Jurkute 2019 Patient (Pt) V:5 from Family 1: 5-generation family, 23 affected. M no - - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Maternal (confirmed) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Jurkute 2019 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/Pt V:12 PubMed: Jurkute 2019 Patient (Pt) V:12 from Family 1: 5-generation family, 23 affected. M no - - - - - - 1 Mohamed Selhane
+?/. - c.320G>A r.(?) p.(Arg107Gln) Parent #1 ACMG likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 ACMG PM2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS ? OAK-754 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. - c.320G>A r.(?) p.(Arg107Gln) Maternal (confirmed) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Chang2023 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/ Pt II:1 PubMed: Chang 2023 Patient II:1 (Pt II:1) from Family 1 : 2-generation family, 2 affected M no Taiwan - - - - - 2 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Maternal (confirmed) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Chang 2023 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 1/ Pt I:1 PubMed: Chang 2023 Patient I:1 (Pt II:1) from Family 1 : 2-generation family, 2 affected, mother and son F no Taiwan - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Maternal (inferred) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family D/Pt II PubMed: Piro 2020 Patient (Pt) II from Family D: 4-generation family 5 affected, great grandfather, grandmother, great-uncle, mother and son M no Germany - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Parent #1 - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - neuropathy, optic - - - M no France - - - - - 1 Mohamed Selhane
+/. - c.320G>A r.(?) p.(Arg107Gln) Parent #1 - pathogenic g.141445301G>A g.141745501G>A - - SSBP1_000002 ACMG PS1, PS2, PS4, PM2, PP1, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F133P143II-2 PubMed: Zheng 2024 family, 4 affected M - China - - - - - 4 Johan den Dunnen
+/. - c.320G>A r.(?) p.(Arg107Gln) Parent #1 - pathogenic g.141445301G>A g.141745501G>A - - SSBP1_000002 ACMG PS1, PS2, PS4, PM2, PP1, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F133P144II-3 PubMed: Zheng 2024 relative M - China - - - - - 1 Johan den Dunnen
+/. - c.320G>A r.(?) p.(Arg107Gln) Parent #1 - pathogenic g.141445301G>A g.141745501G>A - - SSBP1_000002 ACMG PS1, PS2, PS4, PM2, PP1, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F133P142II-1 PubMed: Zheng 2024 relative F - China - - - - - 1 Johan den Dunnen
+/. - c.320G>A r.(?) p.(Arg107Gln) Parent #1 - pathogenic g.141445301G>A g.141745501G>A - - SSBP1_000002 ACMG PS1, PS2, PS4, PM2, PP1, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F133P141I-2 PubMed: Zheng 2024 relative F - China - - - - - 1 Johan den Dunnen
+/. - c.320G>A r.(?) p.(Arg107Gln) Parent #1 - pathogenic g.141445301G>A g.141745501G>A (Arg110Gln) - SSBP1_000002 ACMG PS1, PS2, PS4, PM2, PP1, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F134P145II-2 PubMed: Zheng 2024 - M - China - - - - - 1 Johan den Dunnen
+/. - c.320G>A r.(?) p.(Arg107Gln) Parent #1 - pathogenic g.141445301G>A g.141745501G>A (Arg110Gln) - SSBP1_000002 ACMG PS1, PS2, PS4, PM2, PP1, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F135P146II-1 PubMed: Zheng 2024 - F - China - - - - - 1 Johan den Dunnen
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