All transcript variants in gene SPINK1

Information The variants shown are described using the NM_003122.3 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.163C>T - r.(=) p.(Pro55Ser) g.147207616G>A g.147828053G>A - - SPINK1_000005 - - - - Germline - - - 0 - Andreas Laner
-?/. - c.163C>T likely benign r.(?) p.(Pro55Ser) g.147207616G>A - SPINK1(NM_003122.4):c.163C>T (p.P55S) - SPINK1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.163C>T likely benign r.(?) p.(Pro55Ser) g.147207616G>A - SPINK1(NM_003122.4):c.163C>T (p.P55S) - SPINK1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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