All transcript variants in gene SBDS

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

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.184A>T pathogenic r.(?) p.(Lys62*) g.66459273T>A - SBDS(NM_016038.2):c.184A>T (p.K62*) - SBDS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.184A>T pathogenic r.(?) p.(Lys62*) g.66459273T>A - SBDS(NM_016038.2):c.184A>T (p.K62*) - SBDS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.184A>T VUS r.(?) p.(Lys62*) g.66459273T>A - SBDS(NM_016038.2):c.184A>T (p.K62*) - SBDS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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