Full data view for gene SBDS

Information The variants shown are described using the NM_016038.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.183_184delinsCT pathogenic r.(?) p.(Lys62*) Unknown g.66459273_66459274delinsAG - SBDS:c.183_184delTAinsCT (K62*) - SBDS_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.183_184delinsCT pathogenic r.(?) p.(Lys62*) Unknown g.66459273_66459274delinsAG - SBDS:NM_016038.2:c.183_184delinsCT (Lys62*) - SBDS_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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