Full data view for gene SSBP1

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

38 entries on 1 page. Showing entries 1 - 38.
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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.113G>A r.(?) p.(Arg38Gln) Maternal (inferred) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Jurkute 2021 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG - - neuropathy, optic Family 2/ Individual IV:1 PubMed: Jurkute 2021 Patient IV:1 from Family 2: 4-generation family, 3 affected great-grandmother, mother and daughter, 3 deaths F no Nigeria - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt V:9 PubMed: Piro 2020 PubMed: Meunier 2021 Patient (Pt) V:9 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. M no France - - - - - 28 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline no - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VI:14 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VI:14 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. M no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline no - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VI:15 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VI:15 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. M no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Maternal (inferred) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021, PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt IV:6 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) IV:6 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data M no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt V:13 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) V:13 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. M no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (inferred) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt V:28 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) V:28 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. F no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Maternal (inferred) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt V:41 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) V:41 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. F no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Maternal (confirmed) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-ON - - neuropathy, optic Family A/ Pt VI:8 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VI:8 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. F no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-ON - - neuropathy, optic Family A/ Pt VI:19 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VI:19 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. M no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VI:20 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VI:20 from Family A: 7-generation family, at least 27 affected. M no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VI:34 PubMed: Meunier 2021 Patient (Pt) VI:34 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. F no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VI:35 PubMed: Meunier 2021 Patient (Pt) VI:35 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. F no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Maternal (confirmed) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VII:3 PubMed: Meunier 2021 Patient (Pt) VII:3 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. F no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (inferred) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt V:3 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) V:3 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. F no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt V:11 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) V:11 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. M no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Maternal (inferred) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt V:39 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) V:39 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. F no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Maternal (inferred) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt V:47 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) V:47 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. F no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Maternal (confirmed) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VI:4 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VI:4 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. F no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VI:17 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VI:17 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. M no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Maternal (confirmed) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VI:21 PubMed: Piro 2020 PubMed: Meunier 2021 Patient (Pt) VI:21 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. M no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Maternal (confirmed) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VI:24 PubMed: Piro 2020 PubMed: Meunier 2021 Patient (Pt) VI:24 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. M no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Maternal (confirmed) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VI:25 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VI:25 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. F no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Maternal (confirmed) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VI:38 PubMed: Meunier 2021 Patient (Pt) VI:38 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. M no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VII:1 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VII:1 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. M no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (inferred) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt VII:8 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) VII:8 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. F no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (inferred) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/ Pt IV:17 PubMed: Meunier 2021 PubMed: Piro 2020 Patient (Pt) IV:17 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. F no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Maternal (inferred) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Meunier 2021 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family A/Pt V:42 PubMed: Meunier 2021 Patient (Pt) V:42 from Family A: 7-generation family, at least 27 affected. NOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data. M no France - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family B/Pt III:1 PubMed: Piro 2020 Patient III:1 from Family B: 3-generation family, 4 affected grandfather, father, and 2 daughter. F no Germany - - - - - 4 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Parent #1 - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Piro 2020 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG - - neuropathy, optic Family B/Pt I:1 PubMed: Piro 2020 Patient I:1 from Family B: 3-generation family, 4 affected grandfather, father, and 2 daughter. M ? Germany - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Piro 2020 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family B/Pt II:1 PubMed: Piro 2020 Patient II:1 from Family B: 3-generation family, 4 affected grandfather, father, and 2 daughter. M no Germany - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Piro 2020 - - Germline yes - - - - DNA ARMS - - neuropathy, optic Family B/Pt III:2 PubMed: Piro 2020 Patient I:1 from Family B: 3-generation family, 4 affected grandfather, father, and 2 daughter. F no Germany - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Parent #1 - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Jurkute 2019 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG - - neuropathy, optic Family 2/Pt II:2 PubMed: Jurkute 2019 Patient II:2 (Pt II:2) from Family 2: 3-generation family, 5 affected, 2 deaths. M no - - - - - - 5 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Paternal (confirmed) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Jurkute 2019 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 2/Pt III:1 PubMed: Jurkute 2019 Patient III:1 (Pt III:1) from Family 2: 3-generation family, 5 affected, 2 deaths. M no - - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Maternal (confirmed) - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Jurkute 2019 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 2/Pt III:4 PubMed: Jurkute 2019 Patient III:4 (Pt III:4) from Family 2: 3-generation family, 5 affected, 2 deaths. M no - - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Parent #1 - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Jurkute 2019 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG - - neuropathy, optic Family 2/Pt II:4 PubMed: Jurkute 2019 Patient II:4 (Pt II:4) from Family 2: 3-generation family, 5 affected, 2 deaths. NOTE : The ID (Family 2/Pt II:4) of this person has been updated from that originally published with the approval of the authors. Compared to what was initially published: individual 2-3 should be 2-4 (male) M no - - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Parent #1 - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Jurkute 2019 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 2/Pt II:7 PubMed: Jurkute 2019 Patient II:7 (Pt II:7) from Family 2: 3-generation family, 5 affected, 2 deaths. NOTE : The ID (Family 2/Pt II:7) of this person has been updated from that originally published with the approval of the authors. Compared to what was initially published: individual 2-4 should be 2-7 (female). F no - - - - - - 1 Mohamed Selhane
+/. - c.113G>A r.(?) p.(Arg38Gln) Parent #1 - pathogenic (dominant) g.141443388G>A g.141743588G>A - - SSBP1_000008 - PubMed: Jurkute 2019 - - Germline yes - - - - DNA SEQ-NG - - neuropathy, optic Family 3/Pt II:3 PubMed: Jurkute 2019 Patient II:3 (Pt III:4) from Family 3: 3-generation family, 1 affected, 3 deaths. M no - - - - - - 1 Mohamed Selhane
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