All transcript variants in gene SERAC1

Information The variants shown are described using the NM_032861.3 transcript reference sequence.

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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     
+/. 15 c.1598_1599dup - r.(?) p.(His534Leufs*53) g.158535906_158535907dup g.158114874_158114875dup 1598_1599dupATAGTGTCCCTCATCAT - SERAC1_000009 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - Johan den Dunnen
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