Full data view for gene SPINK1

Information The variants shown are described using the NM_003122.3 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-22C>G - r.(=) p.(=) Parent #1 g.147211162G>C g.147831599G>C - - SPINK1_000004 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.36G>C benign r.(?) p.(Leu12Phe) Unknown g.147211105C>G - SPINK1(NM_003122.4):c.36G>C (p.L12F) - SPINK1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.36G>C benign r.(?) p.(Leu12Phe) Unknown g.147211105C>G - SPINK1(NM_003122.4):c.36G>C (p.L12F) - SPINK1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.88-23A>T - r.(=) p.(=) Parent #1 g.147207714T>A g.147828151T>A - - SPINK1_000003 in a patient in combination with PRSS1 pathogenic mutation p.Arg122His - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+/. - c.101A>G - r.(=) p.(Asn34Ser) Parent #1 g.147207678T>C g.147828115T>C - - SPINK1_000002 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
?/. - c.101A>G VUS r.(?) p.(Asn34Ser) Unknown g.147207678T>C - SPINK1(NM_003122.4):c.101A>G (p.N34S) - SPINK1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.101A>G VUS r.(?) p.(Asn34Ser) Unknown g.147207678T>C - SPINK1(NM_003122.4):c.101A>G (p.N34S) - SPINK1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.101A>G VUS r.(?) p.(Asn34Ser) Unknown g.147207678T>C - SPINK1(NM_003122.4):c.101A>G (p.N34S) - SPINK1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.116G>A - r.(=) p.(Cys39Tyr) Parent #1 g.147207663C>T g.147828100C>T - - SPINK1_000001 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.163C>T - r.(=) p.(Pro55Ser) Parent #1 g.147207616G>A g.147828053G>A - - SPINK1_000005 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.163C>T likely benign r.(?) p.(Pro55Ser) Unknown g.147207616G>A - SPINK1(NM_003122.3):c.163C>T (p.Pro55Ser) - SPINK1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.163C>T likely benign r.(?) p.(Pro55Ser) Unknown g.147207616G>A - SPINK1(NM_003122.3):c.163C>T (p.Pro55Ser) - SPINK1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.174C>T benign r.(?) p.(=) Unknown g.147207605G>A - SPINK1(NM_003122.4):c.174C>T (p.=) - SPINK1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.194G>A likely pathogenic r.(?) p.(Arg65Gln) Unknown g.147207585C>T - SPINK1(NM_003122.4):c.194G>A (p.R65Q) - SPINK1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.194G>A likely pathogenic r.(?) p.(Arg65Gln) Unknown g.147207585C>T - SPINK1(NM_003122.4):c.194G>A (p.R65Q) - SPINK1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.194+2T>C pathogenic r.spl? p.? Unknown g.147207583A>G - SPINK1(NM_003122.4):c.194+2T>C (r.spl?) - SPINK1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.194+2T>C pathogenic r.spl? p.? Unknown g.147207583A>G - SPINK1(NM_003122.4):c.194+2T>C (r.spl?) - SPINK1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.198A>C likely benign r.(?) p.(Lys66Asn) Unknown g.147204266T>G - SPINK1(NM_003122.4):c.198A>C (p.K66N) - SPINK1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.200G>A VUS r.(?) p.(Arg67His) Unknown g.147204264C>T - SPINK1(NM_003122.4):c.200G>A (p.R67H) - SPINK1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.200G>A VUS r.(?) p.(Arg67His) Unknown g.147204264C>T - SPINK1(NM_003122.4):c.200G>A (p.R67H) - SPINK1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend