Full data view for gene F11

Information The variants shown are described using the NM_000128.3 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-316C>G r.(?) p.(=) Unknown - benign g.187187135C>G g.186265981C>G - - F11_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.94G>A r.(?) p.(Gly32Arg) Unknown - pathogenic g.187192801G>A g.186271647G>A p.(Gly14Arg) - F11_000021 submitted through SIB; ExPASy_067929 PubMed: Kim et al (2012) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.100G>C r.(?) p.(Asp34His) Unknown - pathogenic g.187192807G>C g.186271653G>C p.(Asp16His) - F11_000029 submitted through SIB; ExPASy_012085 PubMed: Pugh et al (1995) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.127G>A r.(?) p.(Ala43Thr) Unknown - pathogenic g.187192834G>A g.186271680G>A - - F11_000026 submitted through SIB; ExPASy_067930; Dominant-negative mutation that results in severely decreased FXI secretion PubMed: Dai et al (2011) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.137G>T r.(?) p.(Cys46Phe) Unknown - pathogenic g.187192844G>T g.186271690G>T p.(Cys28Phe) - F11_000033 submitted through SIB; ExPASy_054894 PubMed: Hill et al (2005) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.151A>C r.(?) p.(Thr51Pro) Unknown - pathogenic g.187192858A>C g.186271704A>C p.(Thr33Pro) - F11_000003 submitted through SIB; ExPASy_067932 PubMed: Guéguen et al (2012) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.151A>C r.(?) p.(Thr51Pro) Unknown - pathogenic g.187192858A>C g.186271704A>C p.(Thr33Pro) - F11_000003 submitted through SIB; ExPASy_067932 PubMed: Fard-Esfahani et al (2008) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.152C>T r.(?) p.(Thr51Ile) Unknown - pathogenic g.187192859C>T g.186271705C>T p.(Thr33Ile) - F11_000013 submitted through SIB; ExPASy_067931 PubMed: Fard-Esfahani et al (2008) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.159C>A r.(?) p.(His53Gln) Unknown - pathogenic g.187192866C>A g.186271712C>A p.(His35Gln) - F11_000023 submitted through SIB; ExPASy_067933 PubMed: Kim et al (2012) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.166T>C r.(?) p.(Cys56Arg) Unknown - pathogenic g.187192873T>C g.186271719T>C p.(Cys38Arg) - F11_000004 submitted through SIB; ExPASy_054895; The mutation results in impaired FXI secretion. {dbSNP121965069} PubMed: Guéguen et al (2012) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.166T>C r.(?) p.(Cys56Arg) Unknown - pathogenic g.187192873T>C g.186271719T>C p.(Cys38Arg) - F11_000004 submitted through SIB; ExPASy_054895; The mutation results in impaired FXI secretion. {dbSNP121965069} PubMed: Zivelin et al (2002) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/. - c.166T>C r.(?) p.(Cys56Arg) Unknown - pathogenic g.187192873T>C - - - F11_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.188C>T r.(?) p.(Ala63Val) Unknown - pathogenic g.187192895C>T g.186271741C>T p.(Ala45Val) - F11_000005 submitted through SIB; ExPASy_067934 PubMed: Guéguen et al (2012) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.197C>T r.(?) p.(Pro66Leu) Unknown - pathogenic g.187192904C>T g.186271750C>T - - F11_000054 submitted through SIB; ExPASy_011774; Polymorphism. {dbSNP5968} PubMed: Cargill et al (1999) - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 SIB - Livia Famiglietti
+?/. - c.290G>A r.(?) p.(Gly97Glu) Unknown - likely pathogenic g.187194296G>A - - - F11_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.302A>G r.(?) p.(Lys101Arg) Unknown - pathogenic g.187194308A>G g.186273154A>G p.(Lys83Arg) - F11_000034 submitted through SIB; ExPASy_054896 PubMed: Hill et al (2005) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/. - c.316C>T r.(?) p.(Gln106*) Maternal (confirmed) - pathogenic g.187194322C>T - - - F11_000094 - PubMed: Angelozzi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat7 PubMed: Angelozzi 2022 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.325G>A r.(?) p.(Ala109Thr) Unknown - VUS g.187194331G>A g.186273177G>A 325G>A - F11_000086 - PubMed: Duvvari 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease Pat6AB PubMed: Duvvari 2016 patient - - Netherlands white - - - - 1 LOVD
+/. - c.325+1G>A r.spl? p.? Unknown - pathogenic g.187194332G>A g.186273178G>A - - F11_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.344A>G r.(?) p.(Tyr115Cys) Unknown - VUS g.187195288A>G - - - F11_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.400C>T r.(?) p.(Gln134*) Unknown - pathogenic g.187195344C>T - - - F11_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.403G>T r.(?) p.(Glu135Ter) Unknown - pathogenic g.187195347G>T g.186274193G>T - - F11_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.419G>A r.(?) p.(Cys140Tyr) Unknown - pathogenic g.187195363G>A g.186274209G>A p.(Cys122Tyr) - F11_000018 submitted through SIB; ExPASy_067935 PubMed: Quélin et al (2006) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
-/. - c.429C>T r.(?) p.(Asp143=) Unknown - benign g.187195373C>T g.186274219C>T - - F11_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.434A>G r.(?) p.(His145Arg) Unknown - VUS g.187195378A>G - - - F11_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.449C>T r.(?) p.(Thr150Met) Unknown - pathogenic g.187195393C>T g.186274239C>T - - F11_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.452A>G r.(?) p.(Tyr151Cys) Unknown - pathogenic g.187195396A>G g.186274242A>G p.(Tyr133Cys) - F11_000035 submitted through SIB; ExPASy_054897 PubMed: Hill et al (2005) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
?/. - c.485G>A r.(?) p.(Arg162His) Unknown - VUS g.187195429G>A - F11(NM_000128.3):c.485G>A (p.R162H) - F11_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.617C>G r.(?) p.(Pro206Arg) Unknown - VUS g.187197406C>G g.186276252C>G - - F11_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.664G>T r.(?) p.(Asp222Tyr) Unknown - pathogenic g.187197453G>T g.186276299G>T p.(Asp204Tyr) - F11_000006 submitted through SIB; ExPASy_067936 PubMed: Guéguen et al (2012) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.683G>A r.(?) p.(Arg228Gln) Unknown - pathogenic g.187197472G>A g.186276318G>A p.(Arg210Gln) - F11_000007 submitted through SIB; ExPASy_067937 PubMed: Guéguen et al (2012) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.723C>G r.(?) p.(Phe241Leu) Unknown - pathogenic g.187197512C>G g.186276358C>G - - F11_000027 submitted through SIB; ExPASy_067938; Dominant-negative mutation that results in severely decreased FXI secretion PubMed: Dai et al (2011) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.731A>G r.(?) p.(Gln244Arg) Unknown - pathogenic g.187197520A>G g.186276366A>G p.(Gln226Arg) - F11_000055 submitted through SIB; ExPASy_011775; Polymorphism. {dbSNP5969} PubMed: Cargill et al (1999) - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.731A>G r.(?) p.(Gln244Arg) Unknown - pathogenic g.187197520A>G g.186276366A>G p.(Gln226Arg) - F11_000055 submitted through SIB; ExPASy_011775; Polymorphism. {dbSNP5969} PubMed: Martincic et al (1998) - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 SIB - Livia Famiglietti
-/. - c.731A>G r.(?) p.(Gln244Arg) Unknown - benign g.187197520A>G - - - F11_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.738G>C r.(?) p.(Trp246Cys) Unknown - pathogenic g.187197527G>C g.186276373G>C p.(Trp228Cys) - F11_000043 submitted through SIB; ExPASy_012086 PubMed: Alhaq et al (1999) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.755G>C r.(?) p.(Arg252Thr) Unknown - pathogenic g.187197544G>C g.186276390G>C p.(Arg234Thr) - F11_000022 submitted through SIB; ExPASy_067939 PubMed: Kim et al (2012) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/. - c.755+1G>A r.spl? p.? Unknown - pathogenic g.187197545G>A - - - F11_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.756A>T r.(?) p.(Arg252Ser) Unknown - pathogenic g.187201166A>T g.186280012A>T - - F11_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.764G>A r.(?) p.(Cys255Tyr) Unknown - pathogenic g.187201174G>A g.186280020G>A p.(Cys237Tyr) - F11_000041 submitted through SIB; ExPASy_054898; The mutation results in impaired FXI secretion PubMed: Zivelin et al (2002) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.788G>A r.(?) p.(Gly263Glu) Unknown - pathogenic g.187201198G>A g.186280044G>A p.(Gly245Glu) - F11_000036 submitted through SIB; ExPASy_054899 PubMed: Hill et al (2005) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.797G>A r.(?) p.(Ser266Asn) Unknown - pathogenic g.187201207G>A g.186280053G>A p.(Ser248Asn) - F11_000044 submitted through SIB; ExPASy_012087; {dbSNP145168351} PubMed: Martincic et al (1998) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
-/. - c.801A>G r.(?) p.(Thr267=) Unknown - benign g.187201211A>G g.186280057A>G - - F11_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.809A>T r.(?) p.(Lys270Ile) Unknown - pathogenic g.187201219A>T g.186280065A>T p.(Lys252Ile) - F11_000045 submitted through SIB; ExPASy_054900 PubMed: Dai et al (2004) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+?/. - c.809A>T r.(?) p.(Lys270Ile) Unknown - likely pathogenic g.187201219A>T - - - F11_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.827C>G r.(?) p.(Ser276Cys) Unknown - pathogenic g.187201237C>G g.186280083C>G p.(Ser258Cys) - F11_000008 submitted through SIB; ExPASy_067940 PubMed: Guéguen et al (2012) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.830G>A r.(?) p.(Gly277Asp) Unknown - pathogenic g.187201240G>A g.186280086G>A p.(Gly259Asp) - F11_000009 submitted through SIB; ExPASy_067941 PubMed: Guéguen et al (2012) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
-?/. - c.861C>T r.(?) p.(Ile287=) Unknown - likely benign g.187201271C>T g.186280117C>T - - F11_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.866-15T>A r.(=) p.(=) Unknown - VUS g.187201362T>A g.186280208T>A - - F11_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.872G>C r.(?) p.(Cys291Ser) Unknown - VUS g.187201383G>C - - - F11_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.901T>C r.(?) p.(Phe301Leu) Paternal (confirmed) - likely pathogenic g.187201412T>C g.186280258T>C - - F11_000058 excluded single allele in AR disease gene inherited from the healthy father with no clinical relevance to proband's presentation PubMed: Helbig 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES MRT 28195318-FamPat11/12 PubMed: Helbig 2017 2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F;M no United States Jewish-Ashkenazi;Yemen - - - - 1 Johan den Dunnen
+/? ? c.901T>C r.(?) p.(Phe301Leu) Unknown - pathogenic g.187201412T>C g.186280258T>C p.(Phe283Leu) - F11_000046 submitted through SIB; ExPASy_006622; {dbSNP121965064} PubMed: Asakai et al (1989) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/. - c.901T>C r.(?) p.(Phe301Leu) Unknown - pathogenic g.187201412T>C - - - F11_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.908G>A r.(?) p.(Gly303Glu) Unknown - VUS g.187201419G>A g.186280265G>A - - F11_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.919G>T r.(?) p.(Asp307Tyr) Unknown - VUS g.187201430G>T g.186280276G>T - - F11_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.922A>T r.(?) p.(Ile308Phe) Unknown - pathogenic g.187201433A>T g.186280279A>T - - F11_000056 submitted through SIB; ExPASy_011776; Polymorphism. {dbSNP5972} PubMed: Cargill et al (1999) - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.943G>A r.(?) p.(Glu315Lys) Unknown - pathogenic g.187201454G>A g.186280300G>A p.(Glu297Lys) - F11_000019 submitted through SIB; ExPASy_067942 PubMed: Quélin et al (2006) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
-?/. - c.943G>A r.(?) p.(Glu315Lys) Unknown - likely benign g.187201454G>A - F11(NM_000128.3):c.943G>A (p.E315K) - F11_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.959T>C r.(?) p.(Leu320Pro) Unknown - pathogenic g.187201470T>C g.186280316T>C p.(Leu302Pro) - F11_000030 submitted through SIB; ExPASy_012088 PubMed: Pugh et al (1995) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.965C>T r.(?) p.(Thr322Ile) Unknown - pathogenic g.187201476C>T g.186280322C>T p.(Thr304Ile) - F11_000031 submitted through SIB; ExPASy_012089 PubMed: Pugh et al (1995) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.976C>T r.(?) p.(Arg326Cys) Unknown - pathogenic g.187201487C>T g.186280333C>T p.(Arg308Cys) - F11_000047 submitted through SIB; ExPASy_012090; {dbSNP28934608} PubMed: Mitchell et al (1999) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.992C>T r.(?) p.(Thr331Ile) Unknown - pathogenic g.187201503C>T g.186280349C>T p.(Thr313Ile) - F11_000014 submitted through SIB; ExPASy_067943 PubMed: Fard-Esfahani et al (2008) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.1016G>T r.(?) p.(Cys339Phe) Unknown - pathogenic g.187201527G>T g.186280373G>T p.(Cys321Phe) - F11_000053 submitted through SIB; ExPASy_011777; Polymorphism. {dbSNP5967} PubMed: Zivelin et al (2002) - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.1016G>T r.(?) p.(Cys339Phe) Unknown - pathogenic g.187201527G>T g.186280373G>T p.(Cys321Phe) - F11_000053 submitted through SIB; ExPASy_011777; Polymorphism. {dbSNP5967} PubMed: Cargill et al (1999) - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.1021G>A r.(?) p.(Glu341Lys) Unknown - pathogenic g.187201532G>A g.186280378G>A p.(Glu323Lys) - F11_000032 submitted through SIB; ExPASy_012091 PubMed: Pugh et al (1995) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+?/. - c.1052C>T r.(?) p.(Ser351Phe) Unknown - likely pathogenic g.187201651C>T - - - F11_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1076T>C r.(?) p.(Ile359Thr) Unknown - likely pathogenic g.187201675T>C - - - F11_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1076_1077insCGGG r.(?) p.(Leu360GlyfsTer17) Unknown - pathogenic g.187201675_187201676insCGGG g.186280521_186280522insCGGG - - F11_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.1079T>C r.(?) p.(Leu360Pro) Unknown - pathogenic g.187201678T>C g.186280524T>C p.(Leu342Pro) - F11_000015 submitted through SIB; ExPASy_067944 PubMed: Fard-Esfahani et al (2008) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
?/. - c.1099T>A r.(?) p.(Ser367Thr) Unknown - VUS g.187201698T>A - - - F11_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1191T>C r.(?) p.(Gly397=) Unknown - benign g.187205301T>C g.186284147T>C - - F11_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.1201T>C r.(?) p.(Trp401Arg) Unknown - pathogenic g.187205311T>C g.186284157T>C p.(Trp383Arg) - F11_000024 submitted through SIB; ExPASy_067945 PubMed: Kim et al (2012) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.1207G>A r.(?) p.(Val403Met) Unknown - pathogenic g.187205317G>A g.186284163G>A - - F11_000028 submitted through SIB; ExPASy_067946; Dominant-negative mutation that results in severely decreased FXI secretion PubMed: Dai et al (2011) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.1211C>A r.(?) p.(Thr404Asn) Unknown - pathogenic g.187205321C>A g.186284167C>A p.(Thr386Asn) - F11_000049 submitted through SIB; ExPASy_012092; {dbSNP121965067} PubMed: Wistinghausen et al (1997) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/. - c.1247G>A r.(?) p.(Cys416Tyr) Unknown - pathogenic g.187205357G>A g.186284203G>A - - F11_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.1253G>T r.(?) p.(Gly418Val) Unknown - pathogenic g.187205363G>T g.186284209G>T p.(Gly400Val) - F11_000050 submitted through SIB; ExPASy_054901; Dominant-negative mutation that results in severely decreased FXI secretion. {dbSNP121965071} PubMed: Kravtsov et al (2004) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.1289C>T r.(?) p.(Ala430Val) Unknown - pathogenic g.187205399C>T g.186284245C>T p.(Ala412Val) - F11_000037 submitted through SIB; ExPASy_012093; {dbSNP121965068} PubMed: Hill et al (2005) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.1289C>T r.(?) p.(Ala430Val) Unknown - pathogenic g.187205399C>T g.186284245C>T p.(Ala412Val) - F11_000037 submitted through SIB; ExPASy_012093; {dbSNP121965068} PubMed: Mitchell et al (1999) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
?/. - c.1304+6T>C r.(=) p.(=) Unknown - VUS g.187205420T>C g.186284266T>C - - F11_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.1361T>A r.(?) p.(Ile454Lys) Unknown - pathogenic g.187206848T>A g.186285694T>A p.(Ile436Lys) - F11_000001 submitted through SIB; ExPASy_067947 PubMed: Girolami et al (2012) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.1378T>G r.(?) p.(Phe460Val) Unknown - pathogenic g.187206865T>G g.186285711T>G p.(Phe442Val) - F11_000052 submitted through SIB; ExPASy_012094; {dbSNP121965065} PubMed: Imanaka et al (1995) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/. - c.1432G>A r.(?) p.(Gly478Arg) Unknown - pathogenic g.187206919G>A g.186285765G>A - - F11_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.1442T>G r.(?) p.(Ile481Ser) Unknown - pathogenic g.187206929T>G g.186285775T>G p.(Ile463Ser) - F11_000002 submitted through SIB; ExPASy_067948 PubMed: Tirefort et al (2012) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
?/. - c.1489C>T r.(?) p.(Arg497*) Parent #1 - pathogenic (recessive) g.187207577C>T - - - F11_000080 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES F11D, HL HL013 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - - - - 1 Johan den Dunnen
+/? ? c.1507T>C r.(?) p.(Ser503Pro) Unknown - pathogenic g.187207595T>C g.186286441T>C p.(Ser485Pro) - F11_000016 submitted through SIB; ExPASy_067949 PubMed: Fard-Esfahani et al (2008) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.1517A>G r.(?) p.(Asp506Gly) Unknown - pathogenic g.187207605A>G g.186286451A>G - - F11_000020 submitted through SIB; ExPASy_067950 PubMed: Lee et al (2011) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.1531T>C r.(?) p.(Tyr511His) Unknown - pathogenic g.187207619T>C g.186286465T>C p.(Tyr493His) - F11_000042 submitted through SIB; ExPASy_054902; The mutation results in impaired FXI secretion PubMed: Zivelin et al (2002) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.1541G>T r.(?) p.(Cys514Phe) Unknown - pathogenic g.187207629G>T g.186286475G>T p.(Cys496Phe) - F11_000010 submitted through SIB; ExPASy_067951 PubMed: Guéguen et al (2012) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/. - c.1556G>A r.(?) p.(Trp519*) Unknown - pathogenic g.187207644G>A - - - F11_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.1578C>G r.(?) p.(Asp526Glu) Unknown - pathogenic g.187208839C>G g.186287685C>G p.(Asp508Glu) - F11_000025 submitted through SIB; ExPASy_067952 PubMed: Kim et al (2012) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
?/. - c.1603G>C r.(?) p.(Ala535Pro) Unknown - VUS g.187208864G>C - - - F11_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1608G>C r.(?) p.(Lys536Asn) Parent #2 - pathogenic (recessive) g.187208869G>C - - - F11_000081 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES F11D, HL HL013 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - - - - 1 Johan den Dunnen
+/? ? c.1613C>T r.(?) p.(Pro538Leu) Unknown - pathogenic g.187208874C>T g.186287720C>T p.(Pro520Leu) - F11_000038 submitted through SIB; ExPASy_054903; {dbSNP139695003} PubMed: Hill et al (2005) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+?/. - c.1633T>C r.(?) p.(Cys545Arg) Unknown - likely pathogenic g.187208894T>C - - - F11_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1647C>G r.(?) p.(Tyr549*) Unknown - pathogenic g.187208908C>G - - - F11_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.1693G>A r.(?) p.(Glu565Lys) Unknown - pathogenic g.187208954G>A g.186287800G>A p.(Glu547Lys) - F11_000039 submitted through SIB; ExPASy_054904 PubMed: Hill et al (2005) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
-/. - c.1707C>T r.(?) p.(=) Unknown - benign g.187208968C>T - F11(NM_000128.4):c.1707C>T (p.(Asp569=)) - F11_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1718G>A r.(?) p.(Gly573Glu) Unknown - pathogenic g.187209608G>A - - - F11_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.1724C>T r.(?) p.(Ser575Leu) Unknown - pathogenic g.187209614C>T g.186288460C>T p.(Ser557Leu) - F11_000011 submitted through SIB; ExPASy_067953 PubMed: Guéguen et al (2012) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
+/? ? c.1760G>C r.(?) p.(Trp587Ser) Unknown - pathogenic g.187209650G>C g.186288496G>C p.(Trp569Ser) - F11_000051 submitted through SIB; ExPASy_054905; Dominant-negative mutation that results in severely decreased FXI secretion. {dbSNP121965072} PubMed: Kravtsov et al (2004) - - Unknown - - - - - DNA SEQ - - F11D - - - - - - - - - - - 1 SIB - Livia Famiglietti
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This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.

This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.

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