Full data view for gene KLKB1

Information The variants shown are described using the NM_000892.3 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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+/. 3_3i c.143_221+128del r.? p.(Gln48Argfs*11) Both (homozygous) - pathogenic (recessive) g.187153365_187153571del g.186232211_186232417del - - KLKB1_000011 Nearly asymptomatic parents Journal: Shahverdi 2017 - - Germline - - - - - DNA SEQ blood - PKKD - Journal: Shahverdi 2017 - F no Iran - - - - - 1 Christian Drouet
?/. - c.337C>T r.(?) p.(Arg113Ter) Unknown - VUS g.187157943C>T g.186236789C>T 337C>T - KLKB1_000007 - PubMed: Duvvari 2016 - rs121964949 Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease Pat11AB PubMed: Duvvari 2016 patient - - Netherlands white - - - - 1 LOVD
+/. 5 c.337C>T r.(?) p.(Arg113Ter) Both (homozygous) - pathogenic g.187157943C>T g.186236789C>T - - KLKB1_000007 Introduced as pathogenic in ClinVar by Dr W Jones, University of Kent and Kent Haemophilia Centre, Canterbury UK PubMed: Wynne Jones 2004, Journal: Jones 2004 ClinVar-VCV000012033.1 rs121964949 Germline - 0.00006 - - - DNA SEQ blood - PKKD patient PubMed: Wynne Jones 2004, Journal: Jones 2004 First description of a kindred with demonstrated homozygous KLKB1 null allele M yes (United Kingdom (Great Britain)) - - - - - 1 Christian Drouet
+/. 5 c.367G>A r.(?) p.(Gly123Arg) Both (homozygous) - pathogenic (recessive) g.187157973G>A g.186236819G>A 438G-A (G104R) - KLKB1_000010 p.(Gly123Arg) variant in Apple 2 affects the binding function to HMWK PubMed: Katsuda 2007, Journal: Katsuda 2007 ClinVar-VCV000012036.1 rs121964952 Germline yes 0.000004 - - - DNA SEQ blood - PKKD FamPatII7 PubMed: Katsuda 2007, Journal: Katsuda 2007 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 - - - - - 3 Christian Drouet
-/. - c.428= r.(?) p.(Ser143=) Both (homozygous) - benign g.187158034= g.186236880= A499G (Asn124Ser) - KLKB1_000018 - PubMed: Katsuda 2007, Journal: Katsuda 2007 - - Germline yes - - - - DNA SEQ blood - PKKD FamPatII7 PubMed: Katsuda 2007, Journal: Katsuda 2007 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 - - - - - 3 Christian Drouet
-/. - c.428G>A r.(?) p.(Ser143Asn) Unknown - benign g.187158034G>A g.186236880G>A KLKB1(NM_000892.5):c.428G>A (p.S143N) - KLKB1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.428G>A r.(?) p.(Ser143Asn) Unknown - benign g.187158034G>A g.186236880G>A KLKB1(NM_000892.5):c.428G>A (p.S143N) - KLKB1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 5 c.428G>A r.(?) p.(Ser143Asn) Unknown - association g.187158034G>A g.186236880G>A - - KLKB1_000001 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. Combined 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) Journal: Biswas 2016 Journal: Gianni 2017 ClinVar-VCV000012037.9 rs3733402 Germline - - - - - DNA SEQ blood - Healthy/Control - Journal: Biswas 2016 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 - - - - - 1180 Christian Drouet
-?/. 5 c.428G>A r.(?) p.(Ser143Asn) Unknown - association g.187158034G>A g.186236880G>A - - KLKB1_000001 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 Journal: Gianni 2017 Journal: Parsopoulou 2022 ClinVar-VCV000012037.9 rs3733402 Germline - 0.459793 (GnomAD) - - - DNA SEQ blood - HAE1;HAE2 - Journal: Gianni 2017 C1-INH-HAE patients have been included (n=249), for investigation of c.428G>A SNP association with clinical descriptors of HAE severity - - - - - - - - 185 Christian Drouet
+/. 5 c.451dup r.(?) p.(Ser151Phefs*34) Both (homozygous) - pathogenic g.187158057dup g.186236903dup - - KLKB1_000012 c.451dup is a common polymorphism in Africans (allele frequency 1.12-1.78%), but absent in the European collective. PubMed: Barco 2020, Journal: Barco 2020, Journal: Adenaeuer 2021 - rs560588447 Germline - - - - - DNA SEQ - - PKKD - PubMed: Barco 2020, Journal: Barco 2020 - F - Ghana - - - - - 1 Christian Drouet
+/. 5 c.451dup r.(?) p.(Ser151Phefs*34) Both (homozygous) - pathogenic g.187158057dup g.186236903dup 451dupT - KLKB1_000012 Proband also carrying functional SNP F12-c.-4C>T and VUS F12-c.413C>A c.451dup is a common polymorphism in Africans (allele frequency 1.12-1.78%), but absent in the European collective. PubMed: Barco 2020, Journal: Barco 2020 - rs560588447 Germline - - - - - DNA SEQ blood - PKKD - PubMed: Barco 2020, Journal: Barco 2020 - M - Somalia - - - - - 1 Christian Drouet
+/. 5 c.451dup r.(?) p.(Ser151Phefs*34) Both (homozygous) - pathogenic (recessive) g.187158057dup g.186236903dup p.Ser132PhefsTer173 - KLKB1_000012 Homozygote c.[451dup(;)451dup] Blood 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. Journal: Dasgupta 2020 - rs560588447 Germline - - - - - DNA SEQ blood - PKKD - Journal: Dasgupta 2020 - M - United States - - - - - 1 Christian Drouet
-?/. 5 c.451dup r.(?) p.(Ser151Phefs*34) Paternal (confirmed) - VUS g.187158057dup g.186236903dup - - KLKB1_000012 Compound heterozygote c.[451dup];[1643G>A] c.451dup is a common polymorphism in Africans (allele frequency 1.12-1.78%), but absent in the European collective. {PubMed: Maak 2009, Journal: Maak 2009, Journal: Adenaeuer 2021 - rs560588447 Germline yes - - - - DNA SEQ blood - PKKD patient PubMed: Maak 2009, Journal: Maak 2009 2-generation family, 2 affected brothers, unaffected heterozygous parents M no Switzerland - - - - - 2 Christian Drouet
+/. 5 c.451dup r.(?) p.(Ser151Phefs*34) Both (homozygous) - pathogenic (recessive) g.187158057dup g.186236903dup 444_445insT (p.Ser151PhefsTer34) g.186236896_186236897insT - KLKB1_000012 Homozygote c.[451dup];[451dup] PubMed: Abraham 2022, Journal: Abraham 2022 - rs560588447 Germline - - - - - DNA SEQ-NG-I blood - PKKD patient PubMed: Abraham 2022, Journal: Abraham 2022 - M no India - - - - - 1 Christian Drouet
?/. - c.461C>T r.(?) p.(Thr154Met) Unknown - VUS g.187158067C>T - KLKB1(NM_000892.3):c.461C>T (p.T154M) - KLKB1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.519A>G r.(?) p.(=) Unknown - likely benign g.187159440A>G - KLKB1(NM_000892.5):c.519A>G (p.(Gly173=)) - KLKB1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 7 c.689T>A r.(?) p.(Ile230Asn) Unknown - likely pathogenic g.187171487T>A g.186250333T>A - - KLKB1_000008 Heterozygous c.689T>A variant is combined with NM_001308.3(CPN1):c.[533G>A;533G>A] Journal: Vincent 2024 - rs142420360 Germline yes 0.000179 (GnomAD_exome); 0.000181 (ExAC); 0.000231 (TOPMED) - - - DNA SEQ-NG-IT blood - CPN1D - Journal: Vincent 2024 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 - - - - - 3 Christian Drouet
+?/. 7 c.689T>A r.(?) p.(Ile230Asn) Parent #1 - likely pathogenic (recessive) g.187171487T>A g.186250333T>A - - KLKB1_000008 Compound heterozygous PK deficiency c.[689T>A];[1643G>A] PubMed: Barco 2020, Journal: Barco 2020 - rs142420360 Germline - - - - - DNA SEQ blood - PKKD Pat8 PubMed: Barco 2020, Journal: Barco 2020 - M - Germany - - - - - 1 Christian Drouet
-/. - c.759-12dup r.(=) p.(=) Unknown - benign g.187172361dup g.186251207dup KLKB1(NM_000892.5):c.759-12dupT - KLKB1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 7i c.759-12dup r.(?) p.(=) Parent #2 - likely benign g.187172361dup g.186251207dup 759-12dupT - KLKB1_000013 Compound heterozygote c.[759-12dupT](;)[1731T>G] identified prekallikrein Cordoba c.759-12dupT is established as a common polymorphism Journal: Girolami 2010 - rs3214676 Germline - - - - - DNA SEQ blood - PKKD - Journal: Girolami 2010 - M no Argentina Italian background - - - - 4 Christian Drouet
+/. 11 c.1198G>T r.(?) p.(Gly400*) Parent #1 - pathogenic (recessive) g.187173224G>T g.186252070G>T - - KLKB1_000020 Compound heterozygous PK deficiency c.[1198G>T];[1259G>A] PubMed: Ryu 2019, Journal: Ryu 2019 - - Germline - - - - - DNA SEQ blood - PKKD patient PubMed: Ryu 2019, Journal: Ryu 2019 - M - Korea - - - - - 1 Christian Drouet
+/. 11 c.1204_1205del r.(?) p.(Trp402Alafs*35) Unknown - likely pathogenic g.187173230_187173231del g.186252076_186252077del 1203_1204del - KLKB1_000016 - PubMed: Barco 2020, Journal: Barco 2020 - rs768319200 Germline yes 0.000136 - - - DNA SEQ blood - PKKD - PubMed: Barco 2020, Journal: Barco 2020 No personal or familial history of bleeding or thrombotic events Variant also found on daughter's and son's samples M no Switzerland - - - - - 3 Christian Drouet
+?/. 11 c.1205G>A r.(?) p.(Trp402*) Parent #1 - likely pathogenic (recessive) g.187173231G>A g.186252077G>A - - KLKB1_000017 Compound heterozygous PK deficiency c.[1205G>A];[1643G>A] PubMed: Barco 2020, Journal: Barco 2020 - rs121964950 Germline ? 0.000004 - - - DNA SEQ blood - PKKD - PubMed: Barco 2020, Journal: Barco 2020 - M - Somalia - - - - - 1 Christian Drouet
+/. - c.1205G>A r.(?) p.(Trp402*) Paternal (confirmed) - pathogenic (recessive) g.187173231G>A g.186252077G>A G1298A (Trp383stop) - KLKB1_000017 - PubMed: Lombardi 2003, Journal: Lombardi 2003 - - Germline - - - - - DNA SEQ - - PKKD patient PubMed: Lombardi 2003, Journal: Lombardi 2003 2-generation family, 1 affected, carrier parents slightly low prekallikrein level M no Italy - - - - - 1 Johan den Dunnen
+?/. 11 c.1259G>A r.(?) p.(Gly420Glu) Both (homozygous) ACMG pathogenic g.187173285G>A g.186252131G>A 1352G>A;p.Gly401Glu - KLKB1_000009 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 PubMed: Shigekiyo 2003, Journal: Shigekiyo 2003 ClinVar-VCV000225400.1 rs186254196 Germline yes 0.00001 - - - DNA SEQ blood - PKKD FamPatIV1/5 PubMed: Shigekiyo 2003, Journal: Shigekiyo 2003 5-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives M yes Japan - - - - - 2 Christian Drouet
+/. 11 c.1259G>A r.(?) p.(Gly420Glu) Parent #2 - pathogenic (recessive) g.187173285G>A g.186252131G>A - - KLKB1_000009 Compound heterozygous PK deficiency c.[1259G>A];[1198G>T] PubMed: Ryu 2019, Journal: Ryu 2019 - - Germline - - - - - DNA SEQ blood - PKKD patient PubMed: Ryu 2019, Journal: Ryu 2019 - M - Korea - - - - - 1 Christian Drouet
-/. - c.1314-20T>A r.(=) p.(=) Unknown - benign g.187175722T>A g.186254568T>A KLKB1(NM_000892.5):c.1314-20T>A - KLKB1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 14 c.1643G>A r.(?) p.(Cys548Tyr) Both (homozygous) - pathogenic (recessive) g.187178437G>A g.186257283G>A - - KLKB1_000014 - PubMed: Barco 2020, Journal: Barco 2020 - rs121964951 Germline - - - - - DNA SEQ blood - PKKD Pat22 PubMed: Barco 2020, Journal: Barco 2020 - M no Germany - - - - - 1 Christian Drouet
+?/. 14 c.1643G>A r.(?) p.(Cys548Tyr) Parent #2 - likely pathogenic (recessive) g.187178437G>A g.186257283G>A - - KLKB1_000014 Compound heterozygous carrier of c.[c.689T>A];[1643G>A] variants is affected PubMed: Barco 2020, Journal: Barco 2020 ClinVar-SCV002762672.1 rs121964951 Germline - 0.00068 - - - DNA SEQ blood - PKKD Pat8 PubMed: Barco 2020, Journal: Barco 2020 - M - Germany - - - - - 1 Christian Drouet
+?/. 14 c.1643G>A r.(?) p.(Cys548Tyr) Maternal (confirmed) - likely pathogenic (recessive) g.187178437G>A g.186257283G>A - - KLKB1_000014 Compound heterozygote c.[451dup];[1643G>A] PubMed: Maak 2009, Journal: Maak 2009 ClinVar-SCV002762672.1 rs121964951 Germline yes 0.00068 - - - DNA SEQ blood - PKKD patient PubMed: Maak 2009, Journal: Maak 2009 2-generation family, 2 affected brothers, unaffected heterozygous parents M no Switzerland - - - - - 2 Christian Drouet
+/. 14 c.1643G>A r.(?) p.(Cys548Tyr) Both (homozygous) - pathogenic (recessive) g.187178437G>A g.186257283G>A - - KLKB1_000014 Homozygote c.[1643G>A];[1643G>A] PubMed: Dasanu 2009, Journal: Dasanu 2009 ClinVar-SCV002762672.1 rs121964951 Germline - 0.00068 - - - DNA SEQ blood - PKKD - PubMed: Dasanu 2009, Journal: Dasanu 2009 - F - Jamaica - - - - - 1 Christian Drouet
+/. 14 c.1643G>A r.(?) p.(Cys548Tyr) Both (homozygous) - likely pathogenic (recessive) g.187178437G>A g.186257283G>A p.Cys529Tyr - KLKB1_000014 Homozygote c.[1643G>A];[1643G>A] PubMed: Francois 2009, Journal: Francois 2007 ClinVar-SCV002762672.1 rs121964951 Germline - 0.000685 - - - DNA SEQ - - PKKD - PubMed: Francois 2009, Journal: Francois 2007 - F no France - - - - - 1 Christian Drouet
+?/. 14 c.1643G>A r.(?) p.(Cys548Tyr) Parent #2 - likely pathogenic (recessive) g.187178437G>A g.186257283G>A - - KLKB1_000014 Compound heterozygous PK deficiency c.[1205G>A];[1643G>A] PubMed: Barco 2020, Journal: Barco 2020 ClinVar-SCV002762672.1 rs121964951 Germline ? 0.000685 - - - DNA SEQ blood - PKKD - PubMed: Barco 2020, Journal: Barco 2020 - M - Somalia - - - - - 1 Christian Drouet
+?/. - c.1643G>A r.(?) p.(Cys548Tyr) Maternal (confirmed) - likely pathogenic (recessive) g.187178437G>A g.186257283G>A G1736A (Cys529Tyr) - KLKB1_000014 - PubMed: Lombardi 2003, Journal: Lombardi 2003 - - Germline - - - - - DNA SEQ - - PKKD patient PubMed: Lombardi 2003, Journal: Lombardi 2003 2-generation family, 1 affected, carrier parents slightly low prekallikrein level M no Italy - - - - - 1 Johan den Dunnen
-/. - c.1679G>A r.(?) p.(Arg560Gln) Unknown - benign g.187178473G>A g.186257319G>A KLKB1(NM_000892.5):c.1679G>A (p.R560Q) - KLKB1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 15 c.1731T>G r.(?) p.(Asp577Glu) Parent #1 ACMG VUS g.187179180T>G g.186258026T>G - - KLKB1_000015 Compound heterozygote c.[759-12dupT](;)[1731T>G], identified prekallikrein Cordoba c.759-12dupT is established as a common polymorphism Journal: Girolami 2010 - - Germline - - - - - DNA SEQ blood - PKKD - Journal: Girolami 2010 - M no Argentina Italian background - - - - 4 Christian Drouet
-/. 15 c.1761= r.(?) p.(=) Both (homozygous) - benign g.187179210= g.186258056= C1761T - KLKB1_000019 - PubMed: Katsuda 2007, Journal: Katsuda 2007 - rs925453 Germline - - - - - DNA SEQ blood - PKKD FamPatII7 PubMed: Katsuda 2007, Journal: Katsuda 2007 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 - - - - - 3 Christian Drouet
-/. - c.1761T>C r.(?) p.(Asn587=) Unknown - benign g.187179210T>C g.186258056T>C KLKB1(NM_000892.5):c.1761T>C (p.N587=) - KLKB1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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