Full data view for gene SPINK1

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

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-22C>G r.(=) p.(=) Parent #1 - VUS g.147211162G>C g.147831599G>C - - SPINK1_000004 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+/. - c.0 r.0? p.0? Both (homozygous) - pathogenic (recessive) g.147202158_147239350delinsATGAACTACT g.147822595_147859787delinsATGAACTACT .-28211_*2066del - SPINK1_000014 NOTE: break point sequence provided seems to involve inversion, we asked the authors PubMed: Venet 2017 - - Germline - - - 0 - DNA SEQ - - ? Case1 PubMed: Venet 2017 2-generation family, 1 affected, unaffected non-carrier parents F - France Turkey - 0 - - 1 Johan den Dunnen
-/. - c.36G>C r.(?) p.(Leu12Phe) Unknown - benign g.147211105C>G g.147831542C>G SPINK1(NM_003122.4):c.36G>C (p.L12F) - SPINK1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.36G>C r.(?) p.(Leu12Phe) Unknown - benign g.147211105C>G g.147831542C>G SPINK1(NM_003122.4):c.36G>C (p.L12F) - SPINK1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.41T>G r.(?) p.(Leu14Arg) Unknown - likely pathogenic g.147211100A>C g.147831537A>C - - SPINK1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.88-23A>T r.(=) p.(=) Parent #1 - benign 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 - pathogenic g.147207678T>C g.147828115T>C - - SPINK1_000002 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
?/. - c.101A>G r.(?) p.(Asn34Ser) Unknown - VUS g.147207678T>C g.147828115T>C SPINK1(NM_003122.4):c.101A>G (p.N34S) - SPINK1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.101A>G r.(?) p.(Asn34Ser) Unknown - VUS g.147207678T>C g.147828115T>C SPINK1(NM_003122.4):c.101A>G (p.N34S) - SPINK1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.101A>G r.(?) p.(Asn34Ser) Unknown - VUS g.147207678T>C g.147828115T>C SPINK1(NM_003122.4):c.101A>G (p.N34S) - SPINK1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.101A>G r.(?) p.(Asn34Ser) Parent #1 - VUS g.147207678T>C g.147828115T>C - - SPINK1_000002 risk factor; 122 heterozygous; Clinindb (India) Faruq 2020, submtted - rs17107315 Germline - 122/2792 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 122 Mohammed Faruq
?/. - c.101A>G r.(?) p.(Asn34Ser) Both (homozygous) - VUS g.147207678T>C g.147828115T>C - - SPINK1_000002 risk factor; 1 homozygous; Clinindb (India) Faruq 2020, submtted - rs17107315 Germline - 1/2792 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/. - c.116G>A r.(=) p.(Cys39Tyr) Parent #1 - pathogenic 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 - benign g.147207616G>A g.147828053G>A - - SPINK1_000005 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.163C>T r.(?) p.(Pro55Ser) Unknown - likely benign g.147207616G>A g.147828053G>A SPINK1(NM_003122.4):c.163C>T (p.P55S) - SPINK1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.163C>T r.(?) p.(Pro55Ser) Unknown - likely benign g.147207616G>A g.147828053G>A SPINK1(NM_003122.4):c.163C>T (p.P55S) - SPINK1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.174C>T r.(?) p.(Cys58=) Unknown - benign g.147207605G>A g.147828042G>A SPINK1(NM_003122.4):c.174C>T (p.C58=) - SPINK1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.194G>A r.(?) p.(Arg65Gln) Unknown - likely pathogenic g.147207585C>T g.147828022C>T SPINK1(NM_003122.4):c.194G>A (p.R65Q) - SPINK1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.194G>A r.(?) p.(Arg65Gln) Unknown - likely pathogenic g.147207585C>T g.147828022C>T SPINK1(NM_003122.4):c.194G>A (p.R65Q) - SPINK1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.194+2T>C r.spl? p.? Unknown - pathogenic g.147207583A>G g.147828020A>G SPINK1(NM_003122.4):c.194+2T>C - SPINK1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.194+2T>C r.spl? p.? Unknown - pathogenic g.147207583A>G g.147828020A>G SPINK1(NM_003122.4):c.194+2T>C - SPINK1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.198A>C r.(?) p.(Lys66Asn) Unknown - VUS g.147204266T>G g.147824703T>G SPINK1(NM_003122.4):c.198A>C (p.K66N) - SPINK1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.200G>A r.(?) p.(Arg67His) Unknown - VUS g.147204264C>T g.147824701C>T SPINK1(NM_003122.4):c.200G>A (p.R67H) - SPINK1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.200G>A r.(?) p.(Arg67His) Unknown - VUS g.147204264C>T g.147824701C>T SPINK1(NM_003122.4):c.200G>A (p.R67H) - SPINK1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*14_*15ins[MF963044.1:61_419] r.0 p.0 Both (homozygous) - pathogenic (dominant) g.147204209_147204210ins[MF963044.1:61_419] g.147824646_147824647ins[MF963044.1:61_419] AluYb9 ins 359 nt - SPINK1_000015 no expression variant allele detectable Variant Error [ESYNTAX]: This genomic variant has an error (char 36: Syntax error). Please fix this entry and then remove this message. PubMed: Venet 2017 - - Germline - - - 0 - DNA SEQ - - ? Case2 PubMed: Venet 2017 2-generation family, 1 affected, unaffected non-carrier parents F yes France Algeria - 0 - - 1 Johan den Dunnen
-/. - c.*32C>T r.(=) p.(=) Unknown - benign g.147204192G>A g.147824629G>A - - SPINK1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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