### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KLKB1) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "KLKB1" "kallikrein B, plasma (Fletcher factor) 1" "4" "q35" "unknown" "LRG_565" "UD_132118952110" "" "https://www.LOVD.nl/KLKB1" "" "1" "6371" "3818" "229000" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/KLKB1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-07-07 09:50:55" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00010717" "KLKB1" "kallikrein B, plasma (Fletcher factor) 1" "001" "NM_000892.3" "" "NP_000883.2" "" "" "" "-71" "2176" "1917" "187148672" "187179625" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "01177" "HAE1;HAE2" "angioedema, hereditary, type 1" "AD;AR" "106100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-03-13 09:32:51" "01691" "CPN1D" "carboxypeptidase N deficiency (CPN1D)" "AR" "212070" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-11-30 13:51:21" "03138" "PKKD" "prekallikrein (Fletcher factor) deficiency" "AR" "612423" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-06-26 16:36:45" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "KLKB1" "03138" ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00362008" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat11AB" "00362270" "" "" "" "3" "" "03256" "{DOI:Vincent 2024:10.1016/j.jacig.2024.100223}" "A French family with compound heterozygous female proband has been shown as presenting a carboxypeptidase N deficiency with a decreased circulating kallikrein activity." "F" "no" "France" "" "0" "" "" "" "" "00412443" "" "" "" "1180" "" "03256" "{DOI:Biswas 2016:10.1186/s12881-016-0283-5}" "Genotyping 1,180 subjects revealed that the carriers of the F12-c.-4T>C and KLKB1-c.428G>A had a significant association with reduced levels of active plasma renin" "" "" "United States" "" "0" "" "" "" "" "00412470" "" "" "" "1" "" "03256" "{PMID:Wynne Jones 2004:15461630}, {DOI:Jones 2004:10.1111/j.1365-2141.2004.05180.x}" "First description of a kindred with demonstrated homozygous KLKB1 null allele" "M" "yes" "(United Kingdom (Great Britain))" "" "0" "" "" "" "patient" "00412471" "" "" "" "3" "" "03256" "{PMID:Katsuda 2007:17598838}, {DOI:Katsuda 2007:10.1111/j.1600-0609.2007.00871.x}" "3-generation family, 3 affected (2F, M), unaffected carrier parents/relatives; first cases involving substitutions in the heavy chain of PK which affects blood coagulation" "M" "yes" "Japan" "" "0" "" "" "" "FamPatII7" "00412495" "" "" "" "2" "" "03256" "{PMID:Shigekiyo 2003: 12871337}, {DOI:Shigekiyo 2003:10.1046/j.1538-7836.2003.00154.x}" "5-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives" "M" "yes" "Japan" "" "0" "" "" "" "FamPatIV1/5" "00412585" "" "" "" "185" "" "03256" "{DOI:Gianni 2017:10.1159/000481987 }" "C1-INH-HAE patients have been included (n=249), for investigation of c.428G>A SNP association with clinical descriptors of HAE severity" "" "" "" "" "0" "" "" "" "" "00412586" "" "" "" "1" "" "03256" "{PMID:Barco 2020:32202057}, {DOI:Barco 2020:10.1111/jth.14805}" "" "F" "" "Ghana" "" "0" "" "" "" "" "00412591" "" "" "" "1" "" "03256" "{PMID:Barco 2020:32202057}, {DOI:Barco 2020:10.1111/jth.14805}" "" "M" "no" "Germany" "" "0" "" "" "" "Pat22" "00412592" "" "" "" "1" "" "03256" "{PMID:Barco 2020:32202057}, {DOI:Barco 2020:10.1111/jth.14805}" "" "M" "" "Somalia" "" "0" "" "" "" "" "00412593" "" "" "" "1" "" "03256" "{PMID:Barco 2020:32202057}, {DOI:Barco 2020:10.1111/jth.14805}" "" "M" "" "Somalia" "" "0" "" "" "" "" "00412594" "" "" "" "1" "" "03256" "{DOI:Shahverdi 2017:10.5045/br.2017.52.3.229}" "" "F" "no" "Iran" "" "0" "" "" "" "" "00412596" "" "" "" "4" "" "03256" "{DOI:Girolami 2010:10.1002/ajh.21654}" "" "M" "no" "Argentina" "" "0" "" "" "Italian background" "" "00412789" "" "" "" "1" "" "03256" "{PMID:Barco 2020:32202057}, {DOI:Barco 2020:10.1111/jth.14805}" "" "M" "" "Germany" "" "0" "" "" "" "Pat8" "00412790" "" "" "" "3" "" "03256" "{PMID:Barco 2020:32202057}, {DOI:Barco 2020:10.1111/jth.14805}" "No personal or familial history of bleeding or thrombotic events\r\nVariant also found on daughter\'s and son\'s samples" "M" "no" "Switzerland" "" "0" "" "" "" "" "00412901" "" "" "" "2" "" "03256" "{PMID:Maak 2009:19404525}, {DOI:Maak 2009:10.1055/s-0037-1617022}" "2-generation family, 2 affected brothers, unaffected heterozygous parents" "M" "no" "Switzerland" "" "0" "" "" "" "patient" "00412902" "" "" "" "1" "" "03256" "{PMID:Dasanu 2009:19773642}, {DOI:Dasanu 2009:10.1097/MAJ.0b013e3181b270bb}" "" "F" "" "Jamaica" "" "0" "" "" "" "" "00412929" "" "" "" "1" "" "03256" "{DOI:Dasgupta 2020:10.1055/s-0040-1701238}" "" "M" "" "United States" "" "0" "" "" "" "" "00412950" "" "" "" "1" "" "03256" "{PMID:Abraham 2022:34847617}, {DOI:Abraham 2022:10.1111/ijlh.13773}" "" "M" "no" "India" "" "0" "" "" "" "patient" "00412951" "" "" "" "1" "" "03256" "{PMID:Francois 2009:17413767}, {DOI:Francois 2007:10.1097/MBC.0b013e328010bcde}" "" "F" "no" "France" "" "0" "" "" "" "" "00435257" "" "" "" "1" "" "03256" "{PMID:Ryu 2019:30430790}, {DOI:Ryu 2019:10.3343/alm.2019.39.2.229}" "" "M" "" "Korea" "" "0" "" "" "" "patient" "00435258" "" "" "" "1" "" "00006" "{PMID:Lombardi 2003:14652634}, {DOI:Lombardi 2003:10.1160/TH03-05-0275}" "2-generation family, 1 affected, carrier parents slightly low prekallikrein level" "M" "no" "Italy" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00362008" "04214" "00362270" "01691" "00412443" "00000" "00412470" "03138" "00412471" "03138" "00412495" "03138" "00412585" "01177" "00412586" "03138" "00412591" "03138" "00412592" "03138" "00412593" "03138" "00412594" "03138" "00412596" "03138" "00412789" "03138" "00412790" "03138" "00412901" "03138" "00412902" "03138" "00412929" "03138" "00412950" "03138" "00412951" "03138" "00435257" "03138" "00435258" "03138" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 01177, 01691, 03138, 04214 ## Count = 21 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000257401" "04214" "00362008" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "0000257681" "02963" "00362270" "03256" "Familial" "" "Probands presenting with chronic spontaneous urticaria and angioedema" "" "" "" "" "" "" "" "" "" "0000304448" "00000" "00412443" "03256" "Familial" "" "Healthy phenotype" "" "" "" "" "" "" "" "" "" "0000304472" "03138" "00412470" "03256" "Familial" "" "Abnormal bleeding presented with prolongation of the activated partial thromboplastin time (aPTT)" "" "" "" "" "" "" "" "" "" "0000304473" "03138" "00412471" "03256" "Familial" "53y" "Proband presenting with an extremely prolonged K-APTT in a complete coagulation evaluation for hemostasis screening before surgery for a skin tumour" "" "" "" "" "" "" "" "" "" "0000304497" "03138" "00412495" "03256" "Familial" "47y" "Prolonged coagulation time during hemostasis screening before surgery for sinusitis" "" "" "" "" "" "" "" "" "" "0000304579" "01177" "00412585" "03256" "Familial" "" "HAE severity marker with reduced age at disease onset" "" "" "" "" "" "" "" "" "" "0000304580" "03138" "00412586" "03256" "Unknown" "68y" "A routine coagulation testing displayed aPTT prolongation, normal activity of coagulation factors, absence of heparinemia and lupus anticoagulant, quasi-normalization of aPTT with increasing pre-incubation time and PK:C and PK:Ag<1% each" "" "" "" "" "" "" "" "" "" "0000304585" "03138" "00412591" "03256" "Familial" "17y" "Isolated aPTT prolongation, normal coagulation factor activities were with no heparinemia and lupus anticoagulant. PK:C <1%, PK:Ag 10%, normal HK:C and HK:Ag" "" "" "" "" "" "" "" "" "" "0000304586" "03138" "00412593" "03256" "Unknown" "26y" "In a outine coagulation testing diagnosis of a severe PK deficiency based on aPTT prolongation, normal activity of coagulation factors except for FXII:C (39%-50%), neither heparinemia nor lupus anticoagulant, decreasing aPTT with increasing pre-incubation time, and <1% for PK:C and PK:Ag" "" "" "" "" "" "" "" "" "" "0000304587" "03138" "00412594" "03256" "Familial" "03y" "Combined PK deficiency and Bernard Soulier, proband presenting with recurrent epistaxis" "" "" "" "" "" "" "" "" "" "0000304588" "03138" "00412596" "03256" "Familial" "40y" "Prolonged aPTT, normal PT and TT. \r\nProlonged aPTT fully corrected by adding\r\nnormal plasma, serum, plasma deficient in FXI, FXII, or HMWK" "" "" "" "" "" "" "" "" "" "0000304779" "03138" "00412789" "03256" "Familial" "13y" "Proband presenting with a decreased aPTT and normal activity of coagulation factors" "" "" "" "" "" "" "" "PK deficiency" "" "0000304781" "03138" "00412790" "03256" "Familial" "71y" "Proband presenting with prolonged aPTT, aPTT shortening after prolonged pre-incubation, PK:C 5%, and PK:Ag 2%" "" "" "" "" "" "" "" "" "" "0000304887" "03138" "00412901" "03256" "Familial" "14y" "Prolonged aPTT without any history of bleeding symptoms: 96 s (reference range: 24–36 s); the family history negative for bleeding or thrombotic events. Normal prothrombin time and thrombin time." "" "" "" "" "" "" "" "" "" "0000304888" "03138" "00412902" "03256" "Unknown" "" "Proband presenting with a severe bleeding diathesis, with a low level of plasma prekallikrein activity; severity and recurrence of mucosal bleeding appeared late in life." "" "75y" "" "" "" "" "" "" "" "0000304915" "03138" "00412929" "03256" "Unknown" "67y" "Proband presenting with a iatrogenic oropharyngeal angioedema associated with an ACE inhibitor with complete absence of plasma prekallikrein" "" "" "" "" "" "" "" "" "" "0000304936" "03138" "00412950" "03256" "Familial" "" "proband presenting with a markedly prolonged aPTT (159 s ; control 27–34 s), with normal prothrombin time, thrombin time, fibrinogen level and platelet count." "" "60y" "" "" "" "" "" "" "" "0000304937" "03138" "00412951" "03256" "Familial" "" "Proband presenting with a second-trimester pregnancy loss, with a prolonged aPTT." "" "38y" "" "" "" "" "" "" "" "0000325454" "03138" "00435257" "03256" "Familial" "" "Proband presenting with a decreased aPTT and normal activity of coagulation factors" "" "" "" "" "" "" "" "4y" "" "0000325455" "03138" "00435258" "00006" "Familial, autosomal recessive" "14y" "see paper; ..." "" "" "" "" "" "" "" "PKKD" "prekallikrein deficiency" ## Screenings ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000363236" "00362008" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000363499" "00362270" "1" "03256" "03256" "2021-04-20 11:49:26" "" "" "SEQ-NG-IT" "DNA" "blood" "" "0000413715" "00412443" "1" "03256" "03256" "2022-06-28 18:42:44" "" "" "SEQ" "DNA" "blood" "" "0000413740" "00412470" "1" "03256" "03256" "2022-06-29 10:41:54" "" "" "SEQ" "DNA" "blood" "" "0000413741" "00412471" "1" "03256" "03256" "2022-06-29 11:17:26" "" "" "SEQ" "DNA" "blood" "" "0000413765" "00412495" "1" "03256" "03256" "2022-06-29 18:13:15" "" "" "SEQ" "DNA" "blood" "" "0000413855" "00412585" "1" "03256" "03256" "2022-07-01 11:13:39" "" "" "SEQ" "DNA" "blood" "" "0000413856" "00412586" "1" "03256" "03256" "2022-07-01 15:47:55" "" "" "SEQ" "DNA" "" "" "0000413861" "00412591" "1" "03256" "03256" "2022-07-01 15:57:16" "" "" "SEQ" "DNA" "blood" "" "0000413862" "00412593" "1" "03256" "03256" "2022-07-01 16:06:35" "" "" "SEQ" "DNA" "blood" "" "0000413863" "00412594" "1" "03256" "03256" "2022-07-01 16:26:30" "" "" "SEQ" "DNA" "blood" "" "0000413865" "00412596" "1" "03256" "03256" "2022-07-01 17:02:57" "" "" "SEQ" "DNA" "blood" "" "0000414058" "00412789" "1" "03256" "03256" "2022-07-04 19:30:11" "" "" "SEQ" "DNA" "blood" "" "0000414060" "00412790" "1" "03256" "03256" "2022-07-04 19:59:08" "" "" "SEQ" "DNA" "blood" "" "0000414172" "00412901" "1" "03256" "03256" "2022-07-06 15:59:21" "" "" "SEQ" "DNA" "blood" "" "0000414173" "00412902" "1" "03256" "03256" "2022-07-06 16:21:00" "" "" "SEQ" "DNA" "blood" "" "0000414200" "00412929" "1" "03256" "03256" "2022-07-06 17:20:58" "" "" "SEQ" "DNA" "blood" "" "0000414221" "00412950" "1" "03256" "03256" "2022-07-06 18:53:06" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000414222" "00412951" "1" "03256" "03256" "2022-07-06 19:07:21" "" "" "SEQ" "DNA" "" "" "0000436736" "00412592" "1" "03256" "03256" "2023-06-26 10:15:53" "" "" "SEQ" "DNA" "blood" "" "0000436737" "00435257" "1" "03256" "03256" "2023-06-26 13:57:13" "" "" "SEQ" "DNA" "blood" "" "0000436738" "00435258" "1" "00006" "00006" "2023-06-26 16:54:23" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{geneid}}" "0000363499" "KLKB1" "0000413715" "KLKB1" "0000413740" "KLKB1" "0000413741" "KLKB1" "0000413765" "KLKB1" "0000413855" "KLKB1" "0000413856" "KLKB1" "0000413861" "KLKB1" "0000413862" "KLKB1" "0000413863" "KLKB1" "0000413865" "KLKB1" "0000414058" "KLKB1" "0000414060" "KLKB1" "0000414172" "KLKB1" "0000414173" "KLKB1" "0000414200" "KLKB1" "0000414221" "KLKB1" "0000414222" "KLKB1" "0000436736" "KLKB1" "0000436737" "KLKB1" "0000436738" "KLKB1" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 38 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000281825" "0" "10" "4" "187175722" "187175722" "subst" "0.355929" "02325" "KLKB1_000003" "g.187175722T>A" "" "" "" "KLKB1(NM_000892.5):c.1314-20T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186254568T>A" "" "benign" "" "0000281826" "0" "10" "4" "187178473" "187178473" "subst" "0.164395" "02325" "KLKB1_000004" "g.187178473G>A" "" "" "" "KLKB1(NM_000892.5):c.1679G>A (p.R560Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186257319G>A" "" "benign" "" "0000281827" "0" "10" "4" "187179210" "187179210" "subst" "0.674446" "02325" "KLKB1_000005" "g.187179210T>C" "" "" "" "KLKB1(NM_000892.5):c.1761T>C (p.N587=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186258056T>C" "" "benign" "" "0000281828" "0" "10" "4" "187158034" "187158034" "subst" "0.538492" "02325" "KLKB1_000001" "g.187158034G>A" "" "" "" "KLKB1(NM_000892.5):c.428G>A (p.S143N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186236880G>A" "" "benign" "" "0000281829" "0" "10" "4" "187172361" "187172361" "dup" "0" "02325" "KLKB1_000002" "g.187172361dup" "" "" "" "KLKB1(NM_000892.5):c.759-12dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.186251207dup" "" "benign" "" "0000522278" "0" "10" "4" "187158034" "187158034" "subst" "0.538492" "02326" "KLKB1_000001" "g.187158034G>A" "" "" "" "KLKB1(NM_000892.5):c.428G>A (p.S143N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.186236880G>A" "" "benign" "" "0000719866" "0" "50" "4" "187158067" "187158067" "subst" "4.06157E-6" "01943" "KLKB1_000006" "g.187158067C>T" "" "" "" "KLKB1(NM_000892.3):c.461C>T (p.T154M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763785" "0" "50" "4" "187157943" "187157943" "subst" "6.90804E-5" "00000" "KLKB1_000007" "g.187157943C>T" "" "{PMID:Duvvari 2016:27007659}" "" "337C>T" "" "Germline" "" "rs121964949" "0" "" "" "g.186236789C>T" "" "VUS" "" "0000764194" "0" "77" "4" "187171487" "187171487" "subst" "0.00017867" "03256" "KLKB1_000008" "g.187171487T>A" "0.000179 (GnomAD_exome); 0.000181 (ExAC); 0.000231 (TOPMED)" "{DOI:Vincent 2024:10.1016/j.jacig.2024.100223}" "" "" "Heterozygous c.689T>A variant is combined with NM_001308.3(CPN1):c.[533G>A;533G>A]" "Germline" "yes" "rs142420360" "0" "" "" "g.186250333T>A" "" "likely pathogenic" "" "0000871230" "0" "33" "4" "187158034" "187158034" "subst" "0.538492" "03256" "KLKB1_000001" "g.187158034G>A" "" "{DOI:Biswas 2016:10.1186/s12881-016-0283-5} {DOI:Gianni 2017:10.1159/000481987}" "" "" "The functional variants KLKB1-c.428G>A and F12-c.-4T>C disrupt the cascade of enzymatic events, resulting in diminished formation of active renin.\r\nCombined carriage of both KLKB1-428G/A and F12-46C/T SNPs was associated to an 8.8-year delay in HAE-C1-INH onset and a lower probability to need long term prophylaxis (Gianni 2017)" "Germline" "" "rs3733402" "0" "" "" "g.186236880G>A" "{CV:VCV000012037.9}" "association" "" "0000871258" "3" "90" "4" "187157943" "187157943" "subst" "6.90804E-5" "03256" "KLKB1_000007" "g.187157943C>T" "0.00006" "{PMID:Wynne Jones 2004:15461630}, {DOI:Jones 2004:10.1111/j.1365-2141.2004.05180.x}" "" "" "Introduced as pathogenic in ClinVar by Dr W Jones, University of Kent and Kent Haemophilia Centre, Canterbury UK" "Germline" "" "rs121964949" "0" "" "" "g.186236789C>T" "{CV:VCV000012033.1}" "pathogenic" "" "0000871259" "3" "90" "4" "187157973" "187157973" "subst" "0" "03256" "KLKB1_000010" "g.187157973G>A" "0.000004" "{PMID:Katsuda 2007:17598838}, {DOI:Katsuda 2007:10.1111/j.1600-0609.2007.00871.x}" "" "438G-A (G104R)" "p.(Gly123Arg) variant in Apple 2 affects the binding function to HMWK" "Germline" "yes" "rs121964952" "0" "" "" "g.186236819G>A" "{CV:VCV000012036.1}" "pathogenic (recessive)" "" "0000871305" "3" "70" "4" "187173285" "187173285" "subst" "4.08563E-6" "03256" "KLKB1_000009" "g.187173285G>A" "0.00001" "{PMID:Shigekiyo 2003: 12871337}, {DOI:Shigekiyo 2003:10.1046/j.1538-7836.2003.00154.x}" "" "1352G>A;p.Gly401Glu" "Gly420 is a conserved residue among mammals. Because of Gly420 (immature protein) is located in the close vicinity of Cys419 (disulfide bridge 419-435) and His434 (catalytic site), it has been hypothesized that the variant product p.(Gly420Glu) may loss the enzyme activity" "Germline" "yes" "rs186254196" "0" "" "" "g.186252131G>A" "{CV:VCV000225400.1}" "pathogenic" "ACMG" "0000871413" "0" "30" "4" "187158034" "187158034" "subst" "0.538492" "03256" "KLKB1_000001" "g.187158034G>A" "0.459793 (GnomAD)" "{DOI:Gianni 2017:10.1159/000481987} {DOI:Parsopoulou 2022:10.3389/falgy.2022.868185}" "" "" "c.428G/A carriers exhibit a significant delayed disease onset by 4.1y depending on the zygocity status: 3.3y for heterozygotes, 4.3y for homozygotes; p.(Ser143Asn) is supposed to disrupt kallikrein-kinin system activation: Ser143 locates in Apple 2 domain, heavy chain, where PK binds to HMWK; Ser to Asn transition results in reduced formation of the PK-HMWK complex, interferences with optimal PK activation and reduction in bradykinin formation and plasma PKa protection from control by C1-INH" "Germline" "" "rs3733402" "0" "" "" "g.186236880G>A" "{CV:VCV000012037.9}" "association" "" "0000871416" "3" "90" "4" "187158057" "187158057" "dup" "0" "03256" "KLKB1_000012" "g.187158057dup" "" "{PMID:Barco 2020:32202057}, {DOI:Barco 2020:10.1111/jth.14805}, {DOI:Adenaeuer 2021:10.1111/jth.15137}" "" "" "c.451dup is a common polymorphism in Africans (allele frequency 1.12-1.78%), but absent in the European collective." "Germline" "" "rs560588447" "0" "" "" "g.186236903dup" "" "pathogenic" "" "0000871424" "3" "70" "4" "187178437" "187178437" "subst" "0.000653525" "03256" "KLKB1_000014" "g.187178437G>A" "" "{PMID:Barco 2020:32202057}, {DOI:Barco 2020:10.1111/jth.14805}" "" "" "" "Germline" "" "rs121964951" "" "" "" "g.186257283G>A" "" "pathogenic (recessive)" "" "0000871425" "3" "90" "4" "187158057" "187158057" "dup" "0" "03256" "KLKB1_000012" "g.187158057dup" "" "{PMID:Barco 2020:32202057}, {DOI:Barco 2020:10.1111/jth.14805}" "" "451dupT" "Proband also carrying functional SNP F12-c.-4C>T and VUS F12-c.413C>A\r\nc.451dup is a common polymorphism in Africans (allele frequency 1.12-1.78%), but absent in the European collective." "Germline" "" "rs560588447" "0" "" "" "g.186236903dup" "" "pathogenic" "" "0000871427" "3" "90" "4" "187153365" "187153571" "del" "0" "03256" "KLKB1_000011" "g.187153365_187153571del" "" "{DOI:Shahverdi 2017:10.5045/br.2017.52.3.229}" "" "" "Nearly asymptomatic parents" "Germline" "" "" "0" "" "" "g.186232211_186232417del" "" "pathogenic (recessive)" "" "0000871429" "1" "90" "4" "187179180" "187179180" "subst" "0" "03256" "KLKB1_000015" "g.187179180T>G" "" "{DOI:Girolami 2010:10.1002/ajh.21654}" "" "" "Compound heterozygote c.[759-12dupT](;)[1731T>G], identified prekallikrein Cordoba\r\nc.759-12dupT is established as a common polymorphism" "Germline" "" "" "0" "" "" "g.186258026T>G" "" "VUS" "ACMG" "0000871430" "2" "10" "4" "187172361" "187172361" "dup" "0" "03256" "KLKB1_000013" "g.187172361dup" "" "{DOI:Girolami 2010:10.1002/ajh.21654}" "" "759-12dupT" "Compound heterozygote c.[759-12dupT](;)[1731T>G] identified prekallikrein Cordoba\r\nc.759-12dupT is established as a common polymorphism" "Germline" "" "rs3214676" "0" "" "" "g.186251207dup" "" "likely benign" "" "0000871648" "1" "70" "4" "187171487" "187171487" "subst" "0.00017867" "03256" "KLKB1_000008" "g.187171487T>A" "" "{PMID:Barco 2020:32202057}, {DOI:Barco 2020:10.1111/jth.14805}" "" "" "Compound heterozygous PK deficiency c.[689T>A];[1643G>A]" "Germline" "" "rs142420360" "0" "" "" "g.186250333T>A" "" "likely pathogenic (recessive)" "" "0000871649" "2" "70" "4" "187178437" "187178437" "subst" "0.000653525" "03256" "KLKB1_000014" "g.187178437G>A" "0.00068" "{PMID:Barco 2020:32202057}, {DOI:Barco 2020:10.1111/jth.14805}" "" "" "Compound heterozygous carrier of c.[c.689T>A];[1643G>A] variants is affected" "Germline" "" "rs121964951" "0" "" "" "g.186257283G>A" "{CV-SCV:002762672.1}" "likely pathogenic (recessive)" "" "0000871650" "0" "90" "4" "187173230" "187173231" "del" "0.000138634" "03256" "KLKB1_000016" "g.187173230_187173231del" "0.000136" "{PMID:Barco 2020:32202057}, {DOI:Barco 2020:10.1111/jth.14805}" "" "1203_1204del" "" "Germline" "yes" "rs768319200" "0" "" "" "g.186252076_186252077del" "" "likely pathogenic" "" "0000871767" "11" "30" "4" "187158057" "187158057" "dup" "0" "03256" "KLKB1_000012" "g.187158057dup" "" "{{PMID:Maak 2009:19404525}, {DOI:Maak 2009:10.1055/s-0037-1617022}, {DOI:Adenaeuer 2021:10.1111/jth.15137}" "" "" "Compound heterozygote c.[451dup];[1643G>A]\r\nc.451dup is a common polymorphism in Africans (allele frequency 1.12-1.78%), but absent in the European collective." "Germline" "yes" "rs560588447" "0" "" "" "g.186236903dup" "" "VUS" "" "0000871770" "21" "70" "4" "187178437" "187178437" "subst" "0.000653525" "03256" "KLKB1_000014" "g.187178437G>A" "0.00068" "{PMID:Maak 2009:19404525}, {DOI:Maak 2009:10.1055/s-0037-1617022}" "" "" "Compound heterozygote c.[451dup];[1643G>A]" "Germline" "yes" "rs121964951" "0" "" "" "g.186257283G>A" "{CV-SCV:002762672.1}" "likely pathogenic (recessive)" "" "0000871772" "3" "90" "4" "187178437" "187178437" "subst" "0.000653525" "03256" "KLKB1_000014" "g.187178437G>A" "0.00068" "{PMID:Dasanu 2009:19773642}, {DOI:Dasanu 2009:10.1097/MAJ.0b013e3181b270bb}" "" "" "Homozygote c.[1643G>A];[1643G>A]" "Germline" "" "rs121964951" "0" "" "" "g.186257283G>A" "{CV-SCV:002762672.1}" "pathogenic (recessive)" "" "0000871824" "3" "90" "4" "187158057" "187158057" "dup" "0" "03256" "KLKB1_000012" "g.187158057dup" "" "{DOI:Dasgupta 2020:10.1055/s-0040-1701238}" "" "p.Ser132PhefsTer173" "Homozygote c.[451dup(;)451dup]\r\nBlood coagulation testing presenting with a prolonged aPTT and no immunoreactive prekallikrein detected in the plasma by western blot. All other coagulation factors found in the normal range, including factor XII." "Germline" "" "rs560588447" "0" "" "" "g.186236903dup" "" "pathogenic (recessive)" "" "0000871825" "3" "90" "4" "187158057" "187158057" "dup" "0" "03256" "KLKB1_000012" "g.187158057dup" "" "{PMID:Abraham 2022:34847617}, {DOI:Abraham 2022:10.1111/ijlh.13773}" "" "444_445insT (p.Ser151PhefsTer34) g.186236896_186236897insT" "Homozygote c.[451dup];[451dup]" "Germline" "" "rs560588447" "0" "" "" "g.186236903dup" "" "pathogenic (recessive)" "" "0000871826" "3" "90" "4" "187178437" "187178437" "subst" "0.000653525" "03256" "KLKB1_000014" "g.187178437G>A" "0.000685" "{PMID:Francois 2009:17413767}, {DOI:Francois 2007:10.1097/MBC.0b013e328010bcde}" "" "p.Cys529Tyr" "Homozygote c.[1643G>A];[1643G>A]" "Germline" "" "rs121964951" "0" "" "" "g.186257283G>A" "{CV-SCV:002762672.1}" "likely pathogenic (recessive)" "" "0000927867" "1" "70" "4" "187173231" "187173231" "subst" "4.08037E-6" "03256" "KLKB1_000017" "g.187173231G>A" "0.000004" "{PMID:Barco 2020:32202057}, {DOI:Barco 2020:10.1111/jth.14805}" "" "" "Compound heterozygous PK deficiency c.[1205G>A];[1643G>A]" "Germline" "?" "rs121964950" "0" "" "" "g.186252077G>A" "" "likely pathogenic (recessive)" "" "0000927868" "2" "70" "4" "187178437" "187178437" "subst" "0.000653525" "03256" "KLKB1_000014" "g.187178437G>A" "0.000685" "{PMID:Barco 2020:32202057}, {DOI:Barco 2020:10.1111/jth.14805}" "" "" "Compound heterozygous PK deficiency c.[1205G>A];[1643G>A]" "Germline" "?" "rs121964951" "0" "" "" "g.186257283G>A" "{CV-SCV:002762672.1}" "likely pathogenic (recessive)" "" "0000927869" "2" "90" "4" "187173285" "187173285" "subst" "4.08563E-6" "03256" "KLKB1_000009" "g.187173285G>A" "" "{PMID:Ryu 2019:30430790}, {DOI:Ryu 2019:10.3343/alm.2019.39.2.229}" "" "" "Compound heterozygous PK deficiency c.[1259G>A];[1198G>T]" "Germline" "" "" "0" "" "" "g.186252131G>A" "" "pathogenic (recessive)" "" "0000927870" "1" "90" "4" "187173224" "187173224" "subst" "0" "03256" "KLKB1_000020" "g.187173224G>T" "" "{PMID:Ryu 2019:30430790}, {DOI:Ryu 2019:10.3343/alm.2019.39.2.229}" "" "" "Compound heterozygous PK deficiency c.[1198G>T];[1259G>A]" "Germline" "" "" "0" "" "" "g.186252070G>T" "" "pathogenic (recessive)" "" "0000927871" "11" "90" "4" "187173231" "187173231" "subst" "4.08037E-6" "00006" "KLKB1_000017" "g.187173231G>A" "" "{PMID:Lombardi 2003:14652634}, {DOI:Lombardi 2003:10.1160/TH03-05-0275}" "" "G1298A (Trp383stop)" "" "Germline" "" "" "0" "" "" "g.186252077G>A" "" "pathogenic (recessive)" "" "0000927872" "21" "70" "4" "187178437" "187178437" "subst" "0.000653525" "00006" "KLKB1_000014" "g.187178437G>A" "" "{PMID:Lombardi 2003:14652634}, {DOI:Lombardi 2003:10.1160/TH03-05-0275}" "" "G1736A (Cys529Tyr)" "" "Germline" "" "" "0" "" "" "g.186257283G>A" "" "likely pathogenic (recessive)" "" "0000927873" "3" "10" "4" "187158034" "187158034" "=" "0" "00006" "KLKB1_000018" "g.187158034=" "" "{PMID:Katsuda 2007:17598838}, {DOI:Katsuda 2007:10.1111/j.1600-0609.2007.00871.x}" "" "A499G (Asn124Ser)" "" "Germline" "yes" "" "0" "" "" "g.186236880=" "" "benign" "" "0000927874" "3" "10" "4" "187179210" "187179210" "=" "0" "00006" "KLKB1_000019" "g.187179210=" "" "{PMID:Katsuda 2007:17598838}, {DOI:Katsuda 2007:10.1111/j.1600-0609.2007.00871.x}" "" "C1761T" "" "Germline" "" "rs925453" "0" "" "" "g.186258056=" "" "benign" "" "0001034477" "0" "30" "4" "187159440" "187159440" "subst" "0.00285865" "01804" "KLKB1_000021" "g.187159440A>G" "" "" "" "KLKB1(NM_000892.5):c.519A>G (p.(Gly173=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes KLKB1 ## Count = 38 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000281825" "00010717" "10" "1314" "-20" "1314" "-20" "c.1314-20T>A" "r.(=)" "p.(=)" "" "0000281826" "00010717" "10" "1679" "0" "1679" "0" "c.1679G>A" "r.(?)" "p.(Arg560Gln)" "" "0000281827" "00010717" "10" "1761" "0" "1761" "0" "c.1761T>C" "r.(?)" "p.(Asn587=)" "" "0000281828" "00010717" "10" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Ser143Asn)" "" "0000281829" "00010717" "10" "759" "-12" "759" "-12" "c.759-12dup" "r.(=)" "p.(=)" "" "0000522278" "00010717" "10" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Ser143Asn)" "" "0000719866" "00010717" "50" "461" "0" "461" "0" "c.461C>T" "r.(?)" "p.(Thr154Met)" "" "0000763785" "00010717" "50" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Ter)" "" "0000764194" "00010717" "77" "689" "0" "689" "0" "c.689T>A" "r.(?)" "p.(Ile230Asn)" "7" "0000871230" "00010717" "33" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Ser143Asn)" "5" "0000871258" "00010717" "90" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Ter)" "5" "0000871259" "00010717" "90" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Gly123Arg)" "5" "0000871305" "00010717" "70" "1259" "0" "1259" "0" "c.1259G>A" "r.(?)" "p.(Gly420Glu)" "11" "0000871413" "00010717" "30" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Ser143Asn)" "5" "0000871416" "00010717" "90" "451" "0" "451" "0" "c.451dup" "r.(?)" "p.(Ser151Phefs*34)" "5" "0000871424" "00010717" "70" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Cys548Tyr)" "14" "0000871425" "00010717" "90" "451" "0" "451" "0" "c.451dup" "r.(?)" "p.(Ser151Phefs*34)" "5" "0000871427" "00010717" "90" "143" "0" "221" "128" "c.143_221+128del" "r.?" "p.(Gln48Argfs*11)" "3_3i" "0000871429" "00010717" "90" "1731" "0" "1731" "0" "c.1731T>G" "r.(?)" "p.(Asp577Glu)" "15" "0000871430" "00010717" "10" "759" "-12" "759" "-12" "c.759-12dup" "r.(?)" "p.(=)" "7i" "0000871648" "00010717" "70" "689" "0" "689" "0" "c.689T>A" "r.(?)" "p.(Ile230Asn)" "7" "0000871649" "00010717" "70" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Cys548Tyr)" "14" "0000871650" "00010717" "90" "1204" "0" "1205" "0" "c.1204_1205del" "r.(?)" "p.(Trp402Alafs*35)" "11" "0000871767" "00010717" "30" "451" "0" "451" "0" "c.451dup" "r.(?)" "p.(Ser151Phefs*34)" "5" "0000871770" "00010717" "70" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Cys548Tyr)" "14" "0000871772" "00010717" "90" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Cys548Tyr)" "14" "0000871824" "00010717" "90" "451" "0" "451" "0" "c.451dup" "r.(?)" "p.(Ser151Phefs*34)" "5" "0000871825" "00010717" "90" "451" "0" "451" "0" "c.451dup" "r.(?)" "p.(Ser151Phefs*34)" "5" "0000871826" "00010717" "90" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Cys548Tyr)" "14" "0000927867" "00010717" "70" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "11" "0000927868" "00010717" "70" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Cys548Tyr)" "14" "0000927869" "00010717" "90" "1259" "0" "1259" "0" "c.1259G>A" "r.(?)" "p.(Gly420Glu)" "11" "0000927870" "00010717" "90" "1198" "0" "1198" "0" "c.1198G>T" "r.(?)" "p.(Gly400*)" "11" "0000927871" "00010717" "90" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "" "0000927872" "00010717" "70" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Cys548Tyr)" "" "0000927873" "00010717" "10" "428" "0" "428" "0" "c.428=" "r.(?)" "p.(Ser143=)" "" "0000927874" "00010717" "10" "1761" "0" "1761" "0" "c.1761=" "r.(?)" "p.(=)" "15" "0001034477" "00010717" "30" "519" "0" "519" "0" "c.519A>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 30 "{{screeningid}}" "{{variantid}}" "0000363236" "0000763785" "0000363499" "0000764194" "0000413715" "0000871230" "0000413740" "0000871258" "0000413741" "0000871259" "0000413741" "0000927873" "0000413741" "0000927874" "0000413765" "0000871305" "0000413855" "0000871413" "0000413856" "0000871416" "0000413861" "0000871424" "0000413862" "0000871425" "0000413863" "0000871427" "0000413865" "0000871429" "0000413865" "0000871430" "0000414058" "0000871648" "0000414058" "0000871649" "0000414060" "0000871650" "0000414172" "0000871767" "0000414172" "0000871770" "0000414173" "0000871772" "0000414200" "0000871824" "0000414221" "0000871825" "0000414222" "0000871826" "0000436736" "0000927867" "0000436736" "0000927868" "0000436737" "0000927869" "0000436737" "0000927870" "0000436738" "0000927871" "0000436738" "0000927872"