Full data view for gene F12

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

139 entries on 2 pages. Showing entries 1 - 100.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Reference     

ClinVar ID     

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Methylation     

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Disease     

ID_report     

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Gender     

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Owner     
-?/. _1 c.-4811A>G r.(=) p.(=) Both (homozygous) - likely benign g.176841339T>C g.177414338T>C 46 C/C, -4811A>G - F12_000051 - PubMed: Chou 2022, Journal: Chou 2022 - rs2545801 Germline - - - - - DNA SEQ blood - F12D FamI-CT PubMed: Chou 2022, Journal: Chou 2022 2-generation family, 1 affected, unaffected heterozygous carriers in the family F no Taiwan - - - - - 1 Christian Drouet
?/. - c.-62C>T r.(?) p.(=) Unknown - VUS g.176836590G>A g.177409589G>A F12(NM_000505.4):c.-62C>T - F12_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-62C>T r.(?) p.(=) Unknown - likely benign g.176836590G>A - F12(NM_000505.4):c.-62C>T - F12_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-62C>T r.(=) p.(=) Both (homozygous) - likely pathogenic (recessive) g.176836590G>A g.177409589G>A c.[-62C>T];[-62C>T] - F12_000025 Homozygous carrier of c.-62C>T variant displays a very low FXII activity Journal: Demidova 2023 ClinVar-VCV000369463.4 - Germline - - - - - DNA ? blood - F12D - Journal: Demidova 2023 - M - Russia - - - - - 1 Christian Drouet
-?/. - c.-57G>C r.(?) p.(=) Unknown - likely benign g.176836585C>G g.177409584C>G F12(NM_000505.4):c.-57G>C - F12_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-57G>C r.(?) p.(=) Unknown - likely benign g.176836585C>G g.177409584C>G F12(NM_000505.4):c.-57G>C - F12_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-57G>C r.(=) p.(=) Both (homozygous) - likely pathogenic (recessive) g.176836585C>G g.177409584C>G c.[-57G>C];[-57G>C] - F12_000024 Homozygous proband plasma samples displays a very low FXII activity Journal: Demidova 2023 ClinVar-VCV000369462.10 rs41309132 Germline no 0.00220 - - - DNA SEQ blood - F12D - Journal: Demidova 2023 - F - Russia - - - - - 1 Christian Drouet
-/. - c.-4T>C r.(?) p.(=) Unknown - benign g.176836532A>G g.177409531A>G F12(NM_000505.4):c.-4T>C - F12_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4T>C r.(?) p.(=) Unknown - likely benign g.176836532A>G g.177409531A>G F12(NM_000505.4):c.-4T>C - F12_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 1 c.-4T>C r.(?) p.(=) Unknown ACMG association g.176836532A>G g.177409531A>G ‐46C/T - F12_000010 c.-4T>C, also recognised as F12‐46C/T, creates a new up-stream translational start codon, thereby attenuating formation of the authentic FXII protein; the variant, alias Kozak polymorphism, has been shown to modify the course of HAE-C1-INH; variant is overrepresented in a Spanish HAE-FXII cohort and significantly influences the degree of kallikrein-kinin system activation and the clinical severity c.-4T>C also decreases FXII activity when associated with F12 variants c.-62C>T, c.-57G>C, and strongly with c.1532-1G>A PubMed: Corvillo 2020, Journal: Corvillo 2020 Journal: Demidova 2023 ClinVar-VCV000001167.14 rs1801020 Germline no 0.34803 - - - DNA SEQ blood - HAE3 - PubMed: Corvillo 2020, Journal: Corvillo 2020 analysis disease expression in 39 Spanish HAE-FXII female index patients carrying the c.1032C>A (Thr328Lys) variant within F12 gene F - Spain - - - - - 39 Christian Drouet
+/+ 1 c.1A>G r.? p.(Arg2Tyr) Both (homozygous) ACMG likely pathogenic g.176836528T>C g.177409536T>C c.[1A>G];[1A>G] - F12_000058 Proband homozygous for the c.1A>G variant; his father, mother, sister and son are all heterozygous. Predicted harmful by SIFT online software. Journal: Ji 2023 - - Germline yes - - - - DNA SEQ blood - F12D - Journal: Ji 2023 A Chinese pedigree with a homozygous male proband presenting with a congentital Factor XII deficiency M yes China - - - - - 6 Christian Drouet
-?/. 2i c.115+6T>G r.(=) p.(=) Unknown - likely benign g.176836041A>C g.177409040A>C F12(NM_000505.3):c.115+6T>G - F12_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2i c.116-224T>C r.(=) p.(=) Unknown - likely benign g.176833286A>G - - - F12_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.181T>C r.(?) p.(Cys61Arg) Unknown - likely pathogenic g.176832997A>G g.177406042A>G - - F12_000066 - Journal: Han 2015 - - Germline - - - - - DNA SEQ blood - F12D - Journal: Han 2015 - M no China - - - - - 1 Christian Drouet
?/. - c.218G>C r.(?) p.(Cys73Ser) Unknown - VUS g.176832804C>G - F12(NM_000505.3):c.218G>C (p.C73S) - F12_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.218G>C r.(?) p.(Cys73Ser) Unknown - likely pathogenic g.176832804C>G - F12(NM_000505.3):c.218G>C (p.C73S) - F12_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.223A>G r.(?) p.(Thr75Ala) Unknown - VUS g.176832799T>C - F12(NM_000505.4):c.223A>G (p.T75A) - F12_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 5 c.346G>A r.(?) p.(Gly116Ser) Paternal (confirmed) - likely pathogenic (recessive) g.176832375C>T g.177405374C>T c.[346G>A];[1583C>A] - F12_000063 Compound heterozygous variant with c.1583C>A Journal: Cheng 2023 - - Germline yes - - - - DNA SEQ blood - F12D - Journal: Cheng 2023 - - - China - - - - - 1 Christian Drouet
-?/. - c.348C>A r.(?) p.(Gly116=) Unknown - likely benign g.176832373G>T g.177405372G>T F12(NM_000505.3):c.348C>A (p.G116=) - F12_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.398-12C>T r.(=) p.(=) Unknown - benign g.176832198G>A g.177405197G>A - - F12_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 6 c.405C>A r.(?) p.(Cys135*) Both (homozygous) - likely pathogenic (recessive) g.176832179G>T g.177405178G>T c.[405C>A];[405C>A] - F12_000061 - Journal: Kwon 2010 - - Germline - - - - - DNA SEQ blood - F12D - Journal: Wong 2010 - M - Korea - - - - - 1 Christian Drouet
-?/. - c.418C>G r.(?) p.(Leu140Val) Unknown - likely benign g.176832166G>C g.177405165G>C F12(NM_000505.3):c.418C>G (p.L140V) - F12_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.418C>G r.(?) p.(Leu140Val) Unknown - likely benign g.176832166G>C g.177405165G>C F12(NM_000505.3):c.418C>G (p.L140V) - F12_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.418C>G r.(?) p.(Leu140Val) Unknown - likely benign g.176832166G>C - F12(NM_000505.3):c.418C>G (p.L140V) - F12_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 6 c.418C>G r.(?) p.(Leu140Val) Unknown - likely benign g.176832166G>C g.177405165G>C - - F12_000020 Conflicting interpretation of pathogenicity -1. VUS as introduced by GeneDx, Gaithersburg MA -2. Likely benign as introduced by CeGaT Center for Human Genetics Tübingen, Germany. Criteria applied: BP4, BS1 -3. Benign as introduced by CeMIA, Larissa Greece - ClinVar-SCV003842612.1 rs35515200 SUMMARY record - 0.00247 (gnomAD) - - - - - - - - - - - - - - - - - - - - -
-?/. - c.552C>T r.(?) p.(Leu184=) Unknown - likely benign g.176831893G>A - F12(NM_000505.3):c.552C>T (p.L184=) - F12_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.566G>C r.(?) p.(Cys189Ser) Unknown - likely pathogenic g.176831879C>G g.177404878C>G - - F12_000068 - Journal: Han 2015 - - Germline - - - - - DNA SEQ blood - F12D - Journal: Han 2015 - F no China - - - - - 1 Christian Drouet
+/. 7 c.615del r.(?) p.(Gly206Glufs*45) Unknown - likely pathogenic g.176831831del g.177404830del - - F12_000055 - Journal: Demidova 2023 - - Germline - - - - - DNA ? blood - F12D - Journal: Demidova 2023 - - - Russia - - - - - 1 Christian Drouet
-?/-? 7 c.619G>C r.(?) p.(Ala207Pro) Both (homozygous) - VUS g.176831826C>G g.177404825C>G F12(NM_000505.4):c.619G>C (p.A207P) - F12_000005 VKGL data sharing initiative Nederland. To be noted. Pechnikova 2023 described a 13-year-old girl with symptoms of HAE who is homozygous for the allele encoding FXII-Ala207Pro and speculated that the Pro207 form of FXII may contribute to her symptoms. The patient’s father, who does not exhibit symptoms of HAE, is also homozygous for FXII-Pro207, while her mother is heterozygous for this polymorphism. Shamanaev 2025 shows that there is no obvious difference between FXII-Ala207 and FXII-Pro207 in their capacities to support reciprocal activation and subsquent KKS devlopment. Journal: Pechnikova 2023 Journal: Shamanaev 2025 ClinVar-SCV001441476.1 rs17876030 CLASSIFICATION record no 0.034661 - - - - - - - - - - - - - - - - - - - - -
-/. - c.619G>C r.(?) p.(Ala207Pro) Unknown - benign g.176831826C>G g.177404825C>G F12(NM_000505.4):c.619G>C (p.A207P) - F12_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 7 c.619G>C r.(?) p.(Ala207Pro) Unknown - benign g.176831826C>G g.177404825C>G - - F12_000005 - Journal: Kiss 2013 ClinVar-RCV000264675.9 rs17876030 Germline - - - - - DNA SEQ - - HAE3 - Journal: Kiss 2013 A Hungarian pedigree with 5 affected individuals, 3 female and 2 male F no Hungary - - - - - 5 Christian Drouet
-/. - c.711C>T r.(?) p.(Pro237=) Unknown - benign g.176831589G>A g.177404588G>A - - F12_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.711C>T r.(=) p.(=) Parent #1 - benign g.176831589G>A g.177404588G>A - - F12_000009 15 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17876047 Germline - 15/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 15 Mohammed Faruq
?/. 8 c.721T>G r.(?) p.(Trp241Gly) Parent #2 - VUS g.176831579A>C - - - F12_000043 - Journal: Matsukuma 2011 - - Germline - - - - - DNA SEQ - - F12D - Journal: Matsukuma 2011 Original single family with a male proband M no Japan - - - - - 1 Christian Drouet
-/. - c.756C>T r.(?) p.(Ala252=) Unknown - benign g.176831544G>A g.177404543G>A - - F12_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.827G>A r.(?) p.(Trp276*) Paternal (confirmed) - VUS g.176831388C>T g.177404387C>T - - F12_000001 - PubMed: Bosch 2015, Journal: Bosch 2015 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG - - CVI, ID 26350515-Pat12 PubMed: Bosch 2015, Journal: Bosch 2015, PubMed: Bosch 2016, Journal: Bosch 2016 - M ? Netherlands white - - - - 1 Danielle Bosch
+/. - c.827G>A r.(?) p.(Trp276*) Unknown - pathogenic g.176831388C>T - F12(NM_000505.4):c.827G>A (p.W276*) - F12_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 9 c.849C>T r.(?) p.(Asp283=) Unknown - likely benign g.176831366G>A g.177404365G>A F12(NM_000505.3):c.849C>T (p.D283=) - F12_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 9 c.859T>A r.(?) p.(Trp287Arg) Unknown - pathogenic g.176831356A>T g.177404359A>T - - F12_000040 p.(Trp287Arg) variant affects the kringle domain of factor XII. Spontaneously active p.(Trp287Arg) variant product in the recombinantly production medium; prone to intracellular autoactivation and accelerating FXII activation and overriding C1-INH control function. Journal: Hofman 2020 Journal: Scheffel 2020 - - Germline yes - - - - DNA SEQ blood - FCAS1 - Journal: Hofman 2020 Journal: Scheffel 2020 A German family (n=4) presenting with urticarial and autoinflammatory syndrome M - Germany - - - - - 4 Christian Drouet
+?/+? 9 c.894_911dup r.(?) p.(Gln300_Thr305dup) Unknown ACMG pathogenic g.176831306_176831323dup g.177404305_177404322dup c.892_909dup - F12_000036 No functional evidence in the report for this variation. Incomplete penetrance: 3 symptomatic individuals within 6 carriers of c.894_911dup variant. In-frame duplication of 6 residues (Gln300_Thr305dup) within the Pro-rich region of the Kringle domain of factor XII. The c.894_911dup variant has been introduced in ClinVar as pathogenic by the lab of MM Nöthen, Institute of Human Genetics, University Hospital Bonn Germany. Journal: Kiss 2013 PubMed: Kiss 2013 ClinVar-SCV000502993.2 rs774034606 Germline yes 1/149302 - - - DNA SEQ blood - HAE3 - Journal: Kiss 2013 A Hungarian pedigree with 5 affected individuals, 3 female and 2 male F no Hungary - - - - - 5 Christian Drouet
-?/. 9 c.914C>T r.(?) p.(Thr305Ile) Unknown - likely benign g.176831301G>A - F12(NM_000505.3):c.914C>T (p.T305I) - F12_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.922T>A r.(?) p.(Ser308Thr) Unknown - VUS g.176831293A>T - F12(NM_000505.3):c.922T>A (p.S308T) - F12_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 9_9i c.971_1018+24del r.? p.(Lys324_Ala340delinsThr) Unknown ACMG pathogenic g.176831175_176831246del g.177404174_177404245del - - F12_000037 A Brazilian male carrier is presenting with a HAE phenotype triggered by ACEi intake (Veronez 2018). The F12 c.971_1018+24del72 variant is predicted to result in an in-frame deletion p.(Lys324_Ala340delinsThr). Journal: Bork 2011 Journal: Bork 2014 Journal: Veronez 2017 Journal: Veronez 2018 Journal: Veronez 2021 ClinVar-VCV000441533.1 rs1554097246 Germline yes 0.0001 (ALFA project) - - - DNA SEQ blood - HAE3 - Journal: Bork 2011 Journal: Bork 2014 Journal: Veronez 2018 Four independent kindreds have been found as carrying a c.971_1018+24del variant Families 1 and 2, Germany, Turkish origin, with 4 affected female individuals Family 3, Brazil (male individual; history of ACEi intake) Family 4, Brazil (n=2) - no Turkey - - - - - 7 Christian Drouet
+/+ 9_9i c.971_1018+24del r.? p.(Lys324_Ala340delinsThr) Unknown ACMG pathogenic g.176831175_176831246del g.177404174_177404245del - - F12_000037 The F12 c.971_1018+24del72 variant is predicted to result in an in-frame deletion p.(Lys324_Ala340delinsThr). No analysis of transcripts available. Journal: Bork 2011 ClinVar-VCV000441533.1 rs1554097246 Germline yes - - - - DNA SEQ blood - HAE3 - Journal: Bork 2011 Single family F no Turkey - - - - - 3 Christian Drouet
+/+ 9_9i c.971_1018+24del r.? p.(Lys324_Ala340delinsThr) Unknown ACMG pathogenic g.176831173_176831244del g.177404174_177404245del - - F12_000037 Two independent Brazilian families have been shown as carrying a g.177404174_177404245del variant. The F12 c.971_1018+24del variant is predicted to result in an in-frame deletion p.(Lys324_Ala340delinsThr). No analysis of transcripts available. Journal: Moreno 2015 Journal: Veronez 2018 Journal: Gabriel 2025 ClinVar-SCV005350560.1 rs1554097246 Germline yes - - - - 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) 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 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 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 - - 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 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 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 - - 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 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 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 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 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 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 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
+/. 9 c.983C>G r.(?) p.(Thr328Arg) Unknown ACMG pathogenic g.176831232G>C g.177404231G>C c.1032C>G - F12_000039 The first c.983C>G variant that has never been found Journal: Dewald 2006 VCV000001170.4 rs118204456 Germline yes - - - - DNA SEQ blood - HAE3 - Journal: Dewald 2006 - F no Germany - - - - - 2 Christian Drouet
-?/. 9 c.984G>C r.(?) p.(Thr328=) Unknown - likely benign g.176831231C>G g.177404230C>G F12(NM_000505.3):c.984G>C (p.T328=) - F12_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1018+12G>C r.(=) p.(=) Unknown - likely benign g.176831185C>G - F12(NM_000505.3):c.1018+12G>C - F12_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1018+13G>C r.(=) p.(=) Unknown - likely benign g.176831184C>G g.177404183C>G F12(NM_000505.3):c.1018+13G>C - F12_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1018+19del r.(=) p.(=) Unknown - benign g.176831186del g.177404185del F12(NM_000505.4):c.1018+19delG - F12_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1018+19dup r.(=) p.(=) Unknown - likely benign g.176831186dup g.177404185dup F12(NM_000505.3):c.1018+19dupG - F12_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1018+19G>A r.(=) p.(=) Unknown - likely benign g.176831178C>T g.177404177C>T - - F12_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1019-5C>T r.spl? p.? Unknown - likely benign g.176831096G>A - F12(NM_000505.4):c.1019-5C>T - F12_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9i c.1019-2A>C r.spl? p.? Unknown - pathogenic g.176831093T>G - F12(NM_000505.4):c.1019-2A>C - F12_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1025C>T r.(?) p.(Pro342Leu) Unknown - likely benign g.176831085G>A - F12(NM_000505.3):c.1025C>T (p.P342L) - F12_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1027G>C r.(?) p.(Ala343Pro) Unknown - likely benign g.176831083C>G g.177404082C>G F12(NM_000505.3):c.1027G>C (p.A343P), F12(NM_000505.4):c.1027G>C (p.A343P) - F12_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1027G>C r.(?) p.(Ala343Pro) Unknown - likely benign g.176831083C>G g.177404082C>G - - F12_000014 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.023 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.1027G>C r.(?) p.(Ala343Pro) Unknown - likely benign g.176831083C>G - F12(NM_000505.3):c.1027G>C (p.A343P), F12(NM_000505.4):c.1027G>C (p.A343P) - F12_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.1027G>C r.(?) p.(Ala343Pro) Unknown - likely pathogenic g.176831083C>G g.177404082C>G - - F12_000014 Conflicting interpretations of pathogenicity Journal: Gelincik 2014 - rs183643295 De novo - 0.00315 (gnomAD, exome) - - - DNA SEQ blood - HAE3 - Journal: Gelincik 2014 Single family F no Turkey - - - - - 1 Christian Drouet
+?/. 10 c.1027G>C r.(?) p.(Ala343Pro) Unknown - likely benign g.176831083C>G g.177404082C>G 9775G>C - F12_000014 Conflicting interpretations of pathogenicity. Factor XII exhibits partially defective prekallikrein cleavage activity. Journal: Iijima 2011 ClinVar-VCV000225352.7 rs183643295 Germline yes - - - - DNA SEQ blood - Healthy/Control - Journal: Iijima 2011 Symptomatic carrier with a defective prekallikrein cleavage activity M - Japan - - - - - 1 Christian Drouet
-?/. - c.1027G>C r.(?) p.(Ala343Pro) Unknown - likely benign g.176831083C>G - F12(NM_000505.3):c.1027G>C (p.A343P), F12(NM_000505.4):c.1027G>C (p.A343P) - F12_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1093_1094insC r.(?) p.(Lys365Thrfs*69) Parent #1 - likely pathogenic (recessive) g.176831016_176831017insG g.177404013_177404014insG c.[1093_1094insC];[1744G>A] - F12_000062 - Journal: Kwon 2010 - - Germline - 0.00002643 - - - DNA SEQ blood - F12D - Journal: Wong 2010 - F - Korea - - - - - 1 Christian Drouet
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