Factor IX Variant Database

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Search Results: 6 unique variants retrieved

c.571C>A

p.Arg191Ser (145)

Mutation Type:

Point

Domain:

Linker

Nucleotide number:

20413

Mutation Effect:

Missense

Location:

Exon(6)

CpG:

No. of patients reported:

No. of bases:

Structural Information

Please click here to show detailed structural analysis of this mutation.

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Country	Comments	Reference
1	-	-			-		Denmark	-	Nielsen et al (1995)

c.571C>T

p.Arg191Cys (145)

Mutation Type:

Point

Domain:

Linker

Nucleotide number:

20413

Mutation Effect:

Missense

Location:

Exon(6)

CpG:

No. of patients reported:

No. of bases:

Structural Information

Please click here to show detailed structural analysis of this mutation.

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Country	Comments	Reference
1	<1	66		Severe	II		United Kingdom	-	Liddell et al (1989)
2	1	-		Moderate	-		United Kingdom	-	Green et al (1990)
3	2	43		Moderate	II		United Kingdom	-	Green et al (1990)
4	3	54		Moderate	II		United Kingdom	-	Winship and Dragon (1991)
5	<1	13		Severe	II		United Kingdom	-	Saad et al (1994)
6	2	-		Moderate	-		United Kingdom	-	Saad et al (1994)
7	-	-		Moderate	-		Italy	-	Belvini et al (2005)
8	-	-			-		United Kingdom	-	Saad et al (1994)
9	2	40		Moderate	II		USA	-	Thompson and Chen (1992)
10	16	-		Mild	-		Germany	-	Knobloch et al (1993)
11	3	-		Moderate	-		Germany	-	Knobloch et al (1993)
12	3	52		Moderate	II		USA	-	Thompson et al (1993)
13	3	52		Moderate	II		USA	-	Bottema et al (1993)
14	5	-		Moderate	-		New Zealand	-	Van de Water et al (1996)
15	<1	30		Severe	II		Canada	-	Poon et al (1993)
16	3	32		Moderate	II		United Kingdom	-	Saad et al (1994)
17	3	-		Moderate	-			-	Centre B31 (unpublished)
18	2.5	-	Sporadic	Moderate	-		India	-	Jayandharan et al (2005)
19	3	-		Moderate	-			-	Centre B31 (unpublished)
20	<1	34		Severe	II		United Kingdom	-	Saad et al (1994)
21	-	-		Moderate	-		Germany	-	Wulff et al (1995)
22	<1	-		Severe	-			-	Centre B19 (unpublished)
23	2	62	Familial	Moderate	II		USA	-	Chen et al (1995)
24	4	44	Sporadic	Moderate	II		USA	-	Chen et al (1995)
25	2	60	Sporadic	Moderate	II		USA	-	Chen et al (1995)
26	-	-			-			-	Centre B31 (unpublished)
27	4	-		Moderate	-			-	Centre B31 (unpublished)
28	3	36		Moderate	II		France	-	Costa et al (2000)
29	<1	-		Severe	-			-	Centre B13 (unpublished)
30	3	-		Moderate	-		Sweden	-	Ljung et al (2001)
31	-	-			-		Germany	-	Wulff et al (1998)
32	2	-		Moderate	-		Germany	-	Wulff et al (1998)
33	2	-		Moderate	-			-	Centre B14 (unpublished)
34	-	-			-		Spain	-	Montejo et al (1999)
35	1	17		Moderate	II			-	Centre B39 (unpublished)
36	2	38		Moderate	II			-	Centre B15 (unpublished)
37	4	-		Moderate	-			-	Centre B15 (unpublished)
38	2	18		Moderate	II			-	Centre B39 (unpublished)
39	2	-		Moderate	-		Germany	-	Wulff and Herrmann (1999)
40	-	-			-		Spain	-	Montejo et al (1999)
41	-	-			-		Germany	-	Wulff and Herrmann (1999)
42	<1	-		Severe	-			-	Centre B31 (unpublished)
43	1	43		Moderate	II		France	-	Attali et al (1999)
44	-	-		Severe	-		China	-	Liu et al (2000)
45	<1	-		Severe	-		Spain	-	Vidal et al (2000)
46	2	-		Moderate	-			-	Centre B37 (unpublished)
47	2	-		Moderate	-			-	Centre B37 (unpublished)
48	-	-			-		Germany	-	Wulff et al (1998)
49	-	-			-		Germany	-	Wulff et al (1998)
50	2.6	-		Moderate	-			-	Centre B37 (unpublished)
51	-	-			-			-	Centre B37 (unpublished)
52	3	-		Moderate	-			-	Centre B37 (unpublished)
53	4	-		Moderate	-			-	Centre B37 (unpublished)
54	5	-		Moderate	-			-	Centre B37 (unpublished)
55	2.5	-		Moderate	-		India	-	Mukherjee et al (2004)
56	-	-		Mild	-		USA	-	Li et al (2000)
57	1	30		Moderate	II		USA	-	Toomey et al (1988)
58	2.5	-	Sporadic	Moderate	-	NO	Argentina	-	Radic et al (2013)
59	3	-		Moderate	-		Sweden	-	Halldén et al (2013)
60	-	-		Severe	-		USA	-	Li et al (2014)
61	1.9	-		Moderate	-	NO	Colombia	-	Parrado Jara et al (2020)
62	0.3	-		Severe	-	NO	Colombia	-	Parrado Jara et al (2020)
63	19.5	120		Mild	II		China	Female	Wang et al (2016)
64	-	-			-		Italy	-	Branchini et al (2022)
65	-	-			-		Italy	-	Branchini et al (2022)
66	-	-			-		Italy	-	Branchini et al (2022)
67	-	-			-		Japan	-	Shinozawa et al (2021)

c.572G>A

p.Arg191His (145)

Mutation Type:

Point

Domain:

Linker

Nucleotide number:

20414

Mutation Effect:

Missense

Location:

Exon(6)

CpG:

No. of patients reported:

102

No. of bases:

Structural Information

Please click here to show detailed structural analysis of this mutation.

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Country	Comments	Reference
1	7	160		Mild	II		USA	-	Diuguid et al (1989)
2	4	-		Moderate	-		USA	-	Koeberl et al (1989)
3	4 to 11	91		Mild	-		United Kingdom	-	Green et al (1991)
4	7	148		Mild	II		United Kingdom	-	Green et al (1991)
5	5 to 8	115		Mild	II		United Kingdom	-	Green et al (1991)
6	7	110		Mild	II		United Kingdom	-	Green et al (1991)
7	-	-			-		United Kingdom	-	Green et al (1991)
8	-	-		Mild	-		Italy	-	Belvini et al (2005)
9	4	100		Moderate	II		Japan	-	Suehiro et al (1990)
10	6	100		Mild	II		USA	-	Bottema et al (1990)
11	3	-		Moderate	-		New Zealand	-	Van de Water et al (1996)
12	11	-		Mild	-		USA	-	Bottema et al (1991)
13	4	-		Moderate	-		USA	-	Bottema et al (1991)
14	1	60		Moderate	II		Taiwan	-	Lin et al (1993)
15	9	-		Mild	-		Portugal	-	David et al (1993)
16	-	-			-		United Kingdom	-	Saad et al (1994)
17	2	40 to 140		Moderate	II		Italy	-	Bicocchi et al (2006)
18	7	148		Mild	II		Sweden	-	Ljung et al (2001)
19	9	105		Mild	II			-	Centre B1 (unpublished)
20	8	-		Mild	-			-	Centre B6 (unpublished)
21	-	-			-			-	Centre B9 (unpublished)
22	-	-		Mild	-		Germany	-	Wulff et al (1995)
23	11	100	Sporadic	Mild	II		USA	-	Chen et al (1995)
24	5	44		Moderate	II		USA	-	Bottema et al (1993)
25	7	-		Mild	-		United Kingdom	-	Saad et al (1994)
26	-	-			-			-	Centre B32 (unpublished)
27	5	-		Moderate	-		New Zealand	-	Van de Water et al (1996)
28	3	-		Moderate	-			-	Centre B31 (unpublished)
29	5	-		Moderate	-			-	Centre B31 (unpublished)
30	5	-		Moderate	-			-	Centre B31 (unpublished)
31	9	104		Mild	II		France	-	Costa et al (2000)
32	7	-		Mild	-			-	Centre B1 (unpublished)
33	5	-		Moderate	-			-	Centre B14 (unpublished)
34	3 to 4	-		Moderate	-			-	Centre B14 (unpublished)
35	<1	-		Severe	-		Germany	-	Wulff et al (1998)
36	4	-		Moderate	-			-	Centre B14 (unpublished)
37	5	94		Moderate	II		France	-	Costa et al (2000)
38	-	-			-		Germany	-	Wulff and Herrmann (1999)
39	12	73		Mild	II		Germany	-	Wulff and Herrmann (1999)
40	-	105		Mild	-		USA	-	Thompson et al (1990)
41	7	-		Mild	-			-	Centre B14 (unpublished)
42	5	-		Moderate	-			-	Centre B14 (unpublished)
43	-	-			-			-	Centre B31 (unpublished)
44	4	-		Moderate	-		France	-	Attali et al (1999)
45	5	91		Moderate	II		France	-	Attali et al (1999)
46	3	75		Moderate	II		France	-	Attali et al (1999)
47	4	147		Moderate	II		France	-	Attali et al (1999)
48	3	-		Moderate	-		France	-	Attali et al (1999)
49	7	120		Mild	II		France	-	Attali et al (1999)
50	4	80		Moderate	II		France	-	Attali et al (1999)
51	5	140		Moderate	II		France	-	Attali et al (1999)
52	3	-		Moderate	-			-	Centre B21 (unpublished)
53	5	-		Moderate	-		Germany	-	Wulff et al (1998)
54	-	-			-		Germany	-	Wulff and Herrmann (1999)
55	5	-		Moderate	-			-	Centre B37 (unpublished)
56	<1	-		Severe	-			-	Centre B37 (unpublished)
57	4 to 5	-		Moderate	-			-	Centre B14 (unpublished)
58	3	-		Moderate	-			-	Centre B14 (unpublished)
59	7	-		Mild	-			-	Centre B14 (unpublished)
60	2	-		Moderate	-			-	Centre B14 (unpublished)
61	3 to 5	-		Moderate	-			-	Centre B14 (unpublished)
62	5	-		Moderate	-			-	Centre B14 (unpublished)
63	6	-		Mild	-			-	Centre B26 (unpublished)
64	8	-		Mild	-			-	Centre B26 (unpublished)
65	22	-		Mild	-			-	Centre B26 (unpublished)
66	-	-			-		Germany	-	Wulff et al (1998)
67	-	-			-		Germany	-	Wulff et al (1998)
68	-	-			-			-	Centre B37 (unpublished)
69	3	-		Moderate	-			-	Centre B37 (unpublished)
70	2.29	-		Moderate	-			-	Centre B37 (unpublished)
71	2.5	-		Moderate	-			-	Centre B37 (unpublished)
72	5.5	-		Moderate	-			-	Centre B37 (unpublished)
73	19	-		Mild	-			-	Centre B37 (unpublished)
74	3.8	-		Moderate	-			-	Centre B37 (unpublished)
75	-	-			-			-	Centre B21 (unpublished)
76	5	-		Moderate	-			-	Centre B26 (unpublished)
77	10	80	Familial	Mild	II		USA	-	Chen et al (1995)
78	10	80		Mild	II			-	Centre B39 (unpublished)
79	-	-			-			-	Centre B39 (unpublished)
80	2.5	-		Moderate	-			-	Centre B33 (unpublished)
81	4.2	-		Moderate	-			-	Centre B33 (unpublished)
82	8	100		Mild	II		USA	-	Noyes et al (1983)
83	-	-		Moderate	-	NO	China	-	Yu et al (2012)
84	-	-		Moderate	-	NO	USA	-	Miller et al (2012)
85	-	-		Mild	-	NO	USA	-	Miller et al (2012)
86	11	-		Mild	-		Sweden	-	Halldén et al (2013)
87	6	-		Mild	-		Sweden	-	Halldén et al (2013)
88	6	-		Mild	-		Sweden	-	Halldén et al (2013)
89	7	-		Mild	-		Sweden	-	Halldén et al (2013)
90	7	-		Mild	-		Sweden	-	Halldén et al (2013)
91	4	-		Moderate	-		Sweden	-	Halldén et al (2013)
92	3	-		Moderate	-		Sweden	-	Halldén et al (2013)
93	-	-		Moderate	-		Belgium	-	Lannoy et al (2017)
94	-	-		Moderate	-		Belgium	-	Lannoy et al (2017)
95	-	-			-		USA	Mod/Mild	Li et al (2014)
96	-	-			-		USA	Mod/Mild	Li et al (2014)
97	-	-			-		USA	Mod/Mild	Li et al (2014)
98	-	-			-		USA	Mod/Mild	Li et al (2014)
99	-	-		Moderate	-		Brazil	-	Meireles et al (2017)
100	1	-		Severe	-		China	-	Wang et al (2013)
101	2	-		Moderate	-		China	-	Wang et al (2013)
102	-	-			-		Italy	-	Branchini et al (2022)

c.572G>C

p.Arg191Pro (145)

Mutation Type:

Point

Domain:

Linker

Nucleotide number:

20414

Mutation Effect:

Missense

Location:

Exon(6)

CpG:

No. of patients reported:

No. of bases:

Structural Information

Please click here to show detailed structural analysis of this mutation.

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Severity	Type	Country	Comments	Reference
1	5	73	Moderate	II	France	-	Attali et al (1999)
2	-	-		-	Germany	-	Wulff et al (1998)
3	3.7	-	Moderate	-	South Korea	-	Kwon et al (2008)
4	4	-	Moderate	-	South Korea	-	Kwon et al (2008)
5	-	-		-	Germany	-	Wulff et al (1998)
6	3	-	Moderate	-		-	Centre B26 (unpublished)
7	9	-	Mild	-		-	Centre B26 (unpublished)
8	36	-	Mild	-		-	Centre B31 (unpublished)

c.572G>T

p.Arg191Leu (145)

Mutation Type:

Point

Domain:

Linker

Nucleotide number:

20414

Mutation Effect:

Missense

Location:

Exon(6)

CpG:

No. of patients reported:

No. of bases:

Structural Information

Please click here to show detailed structural analysis of this mutation.

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Country	Comments	Reference
1	2	40	Sporadic	Moderate	II	USA	-	Chen et al (1995)
2	3	-		Moderate	-	Brazil	-	Pestana et al (1991)
3	3.5	-		Moderate	-		-	Centre B37 (unpublished)
4	7	60		Mild	II	Canada	-	Picketts et al (1990)
5	-	-		Moderate	-	Italy	-	Belvini et al (2005)

c.573T>A

p.Arg191Arg (145)

Mutation Type:

Polymorphism

Domain:

Linker

Nucleotide number:

20415

Mutation Effect:

Silent

Location:

Exon(6)

CpG:

No. of patients reported:

No. of bases:

Structural Information

Structural Analysis is only available for missense mutations and cannot be performed for this type (Polymorphism | Silent) of mutation at Exon 6.

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Country	Comments	Reference
1	-	-			-			ClinVar	Landrum et al (2018)

Factor IX Variant Database

Factor IX Gene (F9)

Variant Database

Data Export Options:

UNIQUE (Without Patient Data) : EXCEL/CSV TABULAR MULTIPLE (With Patient Data) : EXCEL/CSV TABULAR

Search Results: 6 unique variants retrieved

Structural Information

Patient Information : Show

Structural Information

Patient Information : Show

Structural Information

Patient Information : Show

Structural Information

Patient Information : Show

Structural Information

Patient Information : Show

Structural Information

Patient Information : Show

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR