Variant ID: 141 |
Type | Point |
---|---|---|
Effect | Missense | cDNA Change | c.1120T>C |
Amino Acid Change | p.(Ser374Pro) (Legacy AA No. 334) | |
Domain | Serine Protease | |
Sequence Context | TCC > CCC | |
Location | Exon 8 | |
Minor Allele Frequency (MAF) | ||
Pathogenicity (ACMG)![]() |
TBA | |
Comments on Variant | FX Marsiglia (aka Marseille): suggested circulation of dysfunctional variant (Vianello 2001); defective activation by FIXa or RVV (Bezeaud 1995) |
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The details of the cases reported with the above variant are listed below
Case ID | Other Variants found in case |
Genotype | FX:C (%) intrinsic | FX:C (%) extrinsic | FX:C (%) RVV | FX:C (%) unknown | FX:Ag (%) | Reported Bleeding Severity |
Gender of Case | Published Reference | Comments on Case |
---|---|---|---|---|---|---|---|---|---|---|---|
178 | Heterozygous | 78 | 70 | 62 | 87 | Not Reported | Female | Vianello et al 2002 | Same case as mother (case 144) of a proband in Vianello 2001 PMID: 11728527 | ||
174 | Heterozygous | 8 | 19 | 12 | 40 | Not Reported | Female | Vianello et al 2002 | Same case as proband (case 142) in Vianello 2001 PMID: 11728527 | ||
145 | Heterozygous | 66 | 65 | 62 | 82 | Asymptomatic | Female | Vianello et al 2001 | Sister of case 142 | ||
144 | Heterozygous | 78 | 70 | 62 | 87 | Asymptomatic | Female | Vianello et al 2001 | Mother of case 142 | ||
142 | Heterozygous | 8 | 19 | 12 | 40 | Asymptomatic | Female | Vianello et al 2001 | No bleeding tendency: referred after prolonged PT noted after spontaneous abortion | ||
40 | Heterozygous | 52 | 44 | 55 | 106 | Asymptomatic | Not Reported | Marchetti et al 1995 | |||
37 | Heterozygous | 20 | 56 | 54 | 72 | Asymptomatic | Male | Marchetti et al 1995 | Brother of case 38 | ||
38 | Heterozygous | 26 | 56 | 68 | 66 | Asymptomatic | Female | Marchetti et al 1995 | Sister of case 37 | ||
39 | Heterozygous | 52 | 76 | 78 | 74 | Asymptomatic | Female | Marchetti et al 1995 | Mother of case 37 | ||
36 | Heterozygous | 61 | 52 | 43 | 100 | Asymptomatic | Female | Marchetti et al 1995 | 35 is first cousin; mother of case 34 | ||
34 | Homozygous | 15 | 22 | 23 | 80 | Asymptomatic | Male | Marchetti et al 1995 | Consanguineous asymptomatic parents cases 35 & 36 | ||
35 | Heterozygous | 55 | 56 | 45 | 90 | Asymptomatic | Male | Marchetti et al 1995 | 36 is first cousin; father of case 34 | ||
29 | Homozygous | 21 | 21 | 26 | 107 | Asymptomatic | Female | Bezeaud et al 1995 | |||
26 | Heterozygous | 43 | 80 | Asymptomatic | Male | Bernardi et al 1994 | Son 2 of case 21 | ||||
25 | Heterozygous | 55 | 90 | Asymptomatic | Male | Bernardi et al 1994 | Son 1 of case 21 | ||||
24 | Heterozygous | 61 | 100 | Asymptomatic | Female | Bernardi et al 1994 | Mother of case 21: first cousin of father | ||||
22 | Homozygous | 27 | 13 | 80 | Asymptomatic | Male | Bernardi et al 1994 | Brother of case 21 | |||
23 | Heterozygous | 55 | 90 | Asymptomatic | Male | Bernardi et al 1994 | Father of case 21: first cousin of mother | ||||
21 | Homozygous | 22 | 15 | 80 | Asymptomatic | Male | Bernardi et al 1994 | Proband |