All transcript variants in gene SPINK1

Information The variants shown are described using the NM_003122.3 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     
-/. - c.88-23A>T - r.(=) p.(=) g.147207714T>A g.147828151T>A - - SPINK1_000003 in a patient in combination with PRSS1 pathogenic mutation p.Arg122His - - - Germline - - - 0 - Andreas Laner
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