Full data view for gene SSBP1

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

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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 - - 0 - 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 - - 0 - - 2 Mohamed Selhane
+?/. - c.364A>G r.(?) p.(Lys122Glu) Unknown ACMG VUS g.141445345A>G - - - SSBP1_000001 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - OPA IR_GH_0183 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
Legend   How to query