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.116G>A - r.(=) p.(Cys39Tyr) g.147207663C>T g.147828100C>T - - SPINK1_000001 - - - - Germline - - - 0 - Andreas Laner
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