Full data view for gene F12

Information The variants shown are described using the NM_000505.3 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown - pathogenic g.176831232G>T g.177404231G>T F12(NM_000505.3):c.983C>A (p.T328K), F12(NM_000505.4):c.983C>A (p.T328K) - F12_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Parent #1 ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 - Journal: Charignon 2018 ClinVar-000001169 rs118204456 Germline yes - - - - DNA SEQ - - HAE1;HAE2 FamPatIII1 PubMed: Charignon 2018, Journal: Charignon 2018 2-generation family, 2 affected (2F) F no France - - - - - 3 Christian Drouet
+/. 9 c.983C>A r.(?) p.(Thr328Lys) Unknown - pathogenic g.176831232G>T g.177404231G>T F12(NM_000505.3):c.983C>A (p.T328K), F12(NM_000505.4):c.983C>A (p.T328K) - F12_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 Numerous Brazilian pedigrees have been recorded as carrying a c.983C>A variant, with 94 families and 176 heterozygous patients. Incomplete prenetrance: 79 asymptomatic relatives within 180 carriers of a c.983C>A variant. The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod Journal: Veronez 2018 Journal: Veronez 2021 Journal: Gabriel 2025 ClinVar-VCV000001169.8 rs118204456 Germline yes 0.000004 (GnomAD_exome) - - - DNA SEQ blood - HAE3 - Journal: Veronez 2018 Journal: Veronez 2021 Journal: Gabriel 2025 Numerous Brazilian pedigrees have been recorded as carrying a c.1032C>A variant, with 94 families and 176 heterozygous carriers. Incomplete penetrance demonstrated in a family where 9/19 symptomatic individuals have been recorded. The course of pregnancies in women diagnosed with HAE-nC1-INH has been described for 7 carriers of a F12 variant. - no Brazil - - - - - 176 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Both (homozygous) ACMG pathogenic g.176831232G>T g.177404231G>T c.[983C>A];[983C>A] - F12_000008 Two Brazilian pedigrees have been recorded as segregating a c.983 C>A;(p.Thr328Lys) variant, with 1 homozygous carrier, one male and one female, respectively in each family. Fourteen affected individuals. Homozygosity for c.983C>A variant lead to develop disease symptoms in males - heterozygous male carriers normally do not develop disease symptoms - and a more severe disease phenotype in females compared to patients heterozygous for the F12 c.983 C>A variant. Journal: Grumach 2016 Journal: Stieber 2014 ClinVar-VCV000001169.8 rs118204456 Germline yes 0.000004 (GnomAD_exome) - - - DNA SEQ blood - HAE3 - Journal: Grumach 2016 Two Brazilian families are presenting with homozygous carriers of a c.983C>A variant, one male and one female - - Brazil - - - - - 14 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 Nine families and 23 affected individuals Important Italian cohort from that has been assessed a prevalence of 1:1.4 × E6 for HAE-FXII. The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod Journal: Bova 2020 ClinVar-VCV000001169.8 rs118204456 Germline yes - - - - DNA SEQ blood - HAE3 - - Nine independent Italian kindreds have been shown as carrying a c.983C>A variant, with 23/43 affected individuals, 32 females and 11 males - - Italy - - - - - 23 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T c.1032C>A - F12_000008 The first French pedigree affected by HAE-F12. Incomplete penetrance: 8/13 affected individuals. Haplotype analyses with use of SNPs at the F12 locus provided evidence that the French family and 3 of the German families reported by Dewald and Bork (2006) shared a common founder. Plasma displays a gain-of-function of kallikrein-kinin system; p.(Thr328Lys) exhibits a lower glycosylation, with subsequent increased autoactivation of zymogen F12. Thr to Lys transition has consequence on the protein’s folding and conformation, with an open or relaxed conformation facilitating the access of kallikrein and plasmin and exposing cryptic proteolytic targets for thrombin that are normally concealed and not accessible in the compact conformation of FXII. The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod. Journal: Martin 2001 Journal: Cichon 2006 Journal: Björkvist 2015 Journal: de Maat 2016 ClinVar-VCV000001169.8 rs118204456 Germline yes 0.000004 (1/234142, GnomAD_exome) - - - DNA SEQ - - HAE3 - Journal: Cichon 2006 Journal: Björkvist 2015 Journal: de Maat 2016 A French pedigree with 8 affected individuals within 13 carriers of a c.983C>A variant - - France - - - - - 8 Christian Drouet
+/. 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T c.1032C>A - F12_000008 Four independent German kindreds have been found as carrying a c.983C>A variant Journal: Dewald 2006 ClinVar-VCV000001169.8 rs118204456 Germline yes - - - - DNA SEQ blood - HAE3 - Journal: Dewald 2006 Four independent German kindreds have been found as carrying a c.983C>A variant Family 1, n=2 Family 2, n=5 Family 3, n=6 Family 4, n=6 F no Germany - - - - - 19 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 First Australian case with HAE-FXII. The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod Journal: Bell 2008 - - Germline yes - - - - DNA SEQ blood - HAE3 - - Single family F no Australia - - - - - 1 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 3 female individuals have been shown as affected. A single male carrier of c.983C>A variant is shown asymptomatic. The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod Journal: Prieto 2009 ClinVar-VCV000001169.8 rs118204456 Germline yes - - - - DNA SEQ blood - HAE3 - - Single family F no Spain - - - - - 3 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 A single Canadian pedigree with 6 affected female individuals. Affected females have polymorphisms associated with lower levels of both APP and ACE, the major enzymes responsible for bradykinin catabolism. Three patients also carry the A allele of SNP rs3788853 in the XPNPEP2 gene, which may have contributed to the phenotype, making this observation the first one with multiple genes that might contribute to estrogen-dependent or estrogen associated HAE-F12. But this allele is also found in 10 unaffected family members. The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod Journal: Duan 2009 - - Germline yes - - - - DNA SEQ blood - HAE3 - - A single Canadian family with 6 symptomatic carriers of a c.983C>A variant F no Canada - - - - - 6 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod Journal: Bork 2009 Journal: Bork 2023 - - Germline yes - - - - DNA SEQ blood - HAE3 - Journal: Bork 2009 Additional 10 German pedigrees shown as carrying a c.983C>A variant Female individuals are affected F no Germany - - - - - 45 Christian Drouet
+/. 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 A single French pedigree with women and man. C1Inh function drops of 10% to 40% compared to normal in female individuals, in line with the cleavage of the serpin from 105 to 95 kd without development of serpin-protease association, suggesting p.(Met328Lys) beyond the control of C1-INH Journal: Martin 2007 ClinVar-VCV000001169 rs118204456 Germline yes - - - - DNA SEQ blood - HAE3 - - A French pedigree with affected man (n=1) and women (n=2) Incomplete penetrance: 3/7 are affected - no France - - - - - 3 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 Nine families with 29 affected individuals. Symptomatic individuals have been found as carriers of a c.-2399C variant of XPNPEP2 gene, and a DD or ID polymporphism of ACE gene. Journal: Piñero-Saavedra 2016 ClinVar-VCV000001169.8 rs118204456 Germline/De novo (untested) yes 0.000004 (GnomAD_exome) - - - DNA SEQ blood - HAE3 - Journal: Piñero-Saavedra 2016 Prospective Spanish cohort study with 9 families and 24 symptomatic individuals - no Spain - - - - - 24 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod Journal: Moreno 2015 ClinVar-VCV000001169.8 rs118204456 Germline yes 0.000004 (GnomAD_exome) - - - DNA SEQ blood - HAE3 - Journal: Moreno 2015 Four Brazilian kindreds have been reported as carrying a c.983C>A variant, with 8/16 affected individuals - no Brazil - - - - - 8 Christian Drouet
+/. 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 Thirteen kindreds from North-Western Spain have been found as carrying a c.983C>A variant, with 29 affected individuals Journal: Marcos 2012 ClinVar-VCV000001169.8 rs118204456 Germline yes - - - - DNA SEQ blood - HAE3 - Journal: Marcos 2012 Thirteen kindreds from North-West Spain, with 29 affected individuals - no Spain - - - - - 29 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod Journal: Baeza 2011 - - Germline yes - - - - DNA SEQ blood - HAE3 - Journal: Baeza 2011 Single family F no Morocco - - - - - 3 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 Two families with 5 affected female individuals; 3 are presenting with severe obstetrical complications Journal: Picone 2010 - - Germline yes - - - - DNA SEQ blood - HAE3 - Journal: Picone 2010 Symptoms and obstetrical complications of women in two families with HAE attributable to the c.983C>A variant in the F12 gene. Family 1, n=2 Family 2, n=3 F - France - - - - - 5 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 A Spanish kindred has been shown as carrying a c.983C>A variant, with 2 affected individuals Journal: Veronez 2019 - - Germline yes - - - - DNA SEQ-NG blood - HAE3 - Journal: Veronez 2019 Single family F no Spain - - - - - 2 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 Four independent kindreds have been found as carrying a c.983C>A variant. Family 1, n=5 (female) Family 2, n=7 (female) Family 3, n=1 (female) Family 4, n=2 (female) All carriers also carry the same combined SNPs already described by Cichon 2006, demonstrating a common ancestor. The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod Journal: Firinu 2015 ClinVar-VCV000001170.4 rs118204456 Germline yes - - - - DNA SEQ blood - HAE3 - Journal: Firinu 2015 Four Sardininan independent kindreds have been found as carrying a c.983C>A variant F no Italy Sardinian - - - - 15 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 A single Italian pedigree with 3 affected female individuals. The patients also carry the same combination of SNPs already observed in the first description by Cichon et al 2006, demonstrating c983C>A as a common ancestral variant among affected individuals in western Europe. The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod Journal: Nagy 2009 - - Germline yes - - - - DNA SEQ blood - HAE3 - Journal: Nagy 2009 The first British pedigree ever shown as carrying a c.983C>A variant, with 3 affected female individuals F - United Kingdom (Great Britain) - - - - - 3 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 24 French pedigrees have been shown as carrying a c.983C>A variant, with 37/57 affected individuals. Family origin: 12/24 from Northern Africa. The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod. Journal: Deroux 2016 ClinVar-VCV000001169 rs118204456 Germline yes - - - - DNA SEQ blood - HAE3 - Journal: Deroux 2016 24 French pedigrees have been shown as carrying a c.983C>A variant - no France - - - - - 37 Christian Drouet
+/. 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 - Journal: Mendoza-Alvarez 2022 - - Germline yes - - - - DNA SEQ blood - HAE3 Fam2 Journal: Mendoza-Alvarez 2022 3-generation family, 4 affected, father/3 daughters F;M no Spain - - - - - 4 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown - pathogenic g.176831232G>T g.177404231G>T F12(NM_000505.3):c.983C>A (p.T328K), F12(NM_000505.4):c.983C>A (p.T328K) - F12_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 Isolated HAE-nC1-INH individuals carrying a c.983C>A variant (10 families): Occurrence of only one symptomatic patient per family, who had no family history of angioedema but who had symptom-free relatives carrying the same HAE-linked c.983C>A variant. The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod Journal: Bork 2023 ClinVar-000001169 rs118204456 Germline yes 0.00001 - - - DNA SEQ blood - HAE3 - Journal: Bork 2023 Ten independent families: 10 isolated HAE-nC1-INH individuals carrying a c.983C>A variant in F12 gene - no Germany - - - - - 10 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod Journal: Hentges 2009 - - Germline yes - - - - DNA SEQ blood - HAE3 - Journal: Hentges 2009 Single family with a single female affected individual F no Luxembourg - - - - - 1 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod Journal: Gomez-Traseira 2010 - - Germline yes - - - - DNA SEQ blood - HAE3 - Journal: Gomez-Traseira 2010 Single family: Five affected individuals within 11 carriers F no Spain - - - - - 5 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod Journal: Mansi 2015 ClinVar-SCV002240385.3 rs118204456 Germline yes - - - - DNA SEQ blood - HAE3 - Journal: Mansi 2015 Three independent families, 3 affected individuals, presenting with a HAE-F12 phenotype - no Italy - - - - - 3 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 - Journal: Stieber 2015 ClinVar-SCV001441472.1 rs118204456 Germline yes 0.000004271 - - - DNA SEQ blood - HAE3 - Journal: Stieber 2015 First report of a Brazilian family and of 12 affected individuals presenting with a HAE-F12 phenotype - no Brazil - - - - - 12 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod Journal: Bork 2017 - rs118204456 Germline yes 0.000004 - - - DNA SEQ blood - HAE3 - Journal: Bork 2017 One family with 4 affected individuals - no Germany - - - - - 4 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 - Journal: Lochbaum 2023 - rs118204456 Germline - 0.000004 - - - DNA SEQ blood - HAE3 - Journal: Lochbaum 2023 Clinical presentation: abdominal edema and edema of the limbs under estrogen intake F no Germany - - - - - 1 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 Clinical presentation: Recurrent edema of the limbs, lips, face, abdomen, lasting approx. five days. The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod Journal: Lochbaum 2023 - rs118204456 Germline yes 0.000004 - - - DNA SEQ blood - HAE3 - Journal: Lochbaum 2023 Single family with a single affected female individual presenting with recurrent edema of the limbs, lips, face, abdomen, lasting approx. five days F no Germany - - - - - 1 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 A Portugese population with 38 probands carrying a c.983C>A variant. The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod Journal: Dias de Castro 2024 ClinVar-SCV002240385.3 rs118204456 Germline yes 0.000004 - - - DNA SEQ blood - HAE3 - Journal: Dias de Castro 2024 A population of 38 probands, presumably 38 families, has been shown as carrying a c.953C>A variant - no Portugal - - - - - 38 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 The c.983C>A variant meets the ACMG criteria to be characterized pathogenic PP1, PM1, PM5, PS3, PS4_Mod Journal: Saddouk 2024 - rs11820445 Germline yes - - - - DNA SEQ - - HAE3 - Journal: Saddouk 2024 Case report of HAE-FXII diagnosed during pregnancy with details on the management of recurring attacks in a resource-limited setting with no C1-INH concentrate availability. F no Morocco - - - - - 2 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 - Journal: Lekhlit 2025 - - Germline yes - - - - DNA SEQ - - HAE3 - Journal: Lekhlit 2025 Single individual F no Morocco - - - - - 1 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T p.Thr328Lys - F12_000008 - Journal: Veronez 2019 - - Germline yes - - - - DNA SEQ - - HAE3 - Journal: Veronez 2019 Single family F no Brazil - - - - - 1 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 First report of a Mexican family with 12 carriers - 8 women and 4 men, including an asymptomatic male carrier. Journal: Contreras-Verduzco 2023 - - Germline yes - - - - DNA SEQ - - HAE3 - Journal: Contreras-Verduzco 2023 First description of a Mexican HAE-FXII family. F no Mexico - - - - - 12 Christian Drouet
+/+ 9 c.983C>A r.(?) p.(Thr328Lys) Unknown ACMG pathogenic g.176831232G>T g.177404231G>T - - F12_000008 - Journal: García Robledo 2025 - - Germline yes - - - - DNA SEQ - - HAE3 - Journal: García Robledo 2025 A single pregnant female individual suffering from HAE during labor induction F no Spain - - - - - 1 Christian Drouet
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