All variants in the SSBP1 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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.320G>A r.(?) p.(Arg107Gln) - likely pathogenic (dominant) g.141445301G>A g.141745501G>A - - SSBP1_000002 - PubMed: Del Doto 2019 - - Germline yes - - 0 - Mohamed Selhane
+?/. - c.364A>G r.(?) p.(Lys122Glu) ACMG VUS g.141445345A>G - - - SSBP1_000001 - - - - Germline/De novo (untested) - - - - - Jinu Han
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