EAHAD Factor IX Variant Database

Search Results: 10 unique variants retrieved

c.1066T>A

p.(Trp356Arg) (310)

Variant Type:

Point

Domain:

Serine Protease

cDNA number:

1066

Variant Effect:

Missense

Location:

Exon(8)

CpG:

No. of cases reported:

No. of bases:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Individual Case Information : Show

Case ID	FIX:C(%)	FIX:Ag(%)	Severity	Type	Reporting Centre	Comments	Reference
2137	<1	<1	Severe	-	Germany	-	Wulff et al (1999)
2138	-	-		-	Germany	-	Wulff and Herrmann (1999)
2139	<1	-	Severe	-	Germany	-	Wulff et al (2001)

c.1066T>C

p.(Trp356Arg) (310)

Variant Type:

Point

Domain:

Serine Protease

cDNA number:

1066

Variant Effect:

Missense

Location:

Exon(8)

CpG:

No. of cases reported:

No. of bases:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Individual Case Information : Show

Case ID	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Reporting Centre	Comments	Reference
2140	<1	86		Severe	II			-	Centre B21 (unpublished)

c.1066T>G

p.(Trp356Gly) (310)

Variant Type:

Point

Domain:

Serine Protease

cDNA number:

1066

Variant Effect:

Missense

Location:

Exon(8)

CpG:

No. of cases reported:

No. of bases:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Individual Case Information : Show

Case ID	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Reporting Centre	Comments	Reference
2141	<1	-		Severe	-		Italy	-	Belvini et al (2005)
2143	<1	-		Severe	-			-	Centre B36 (unpublished)

c.1067G>A

p.(Trp356*) (310)

Variant Type:

Point

Domain:

Serine Protease

cDNA number:

1067

Variant Effect:

Nonsense

Location:

Exon(8)

CpG:

No. of cases reported:

No. of bases:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis is only available for missense variants and cannot be performed for this type (Point | Nonsense) of variant at Exon 8.

Individual Case Information : Show

Case ID	FIX:C(%)	FIX:Ag(%)	Severity	Type	Inhibitors	Reporting Centre	Comments	Reference
3788	<1	-	Severe	-		Spain	-	Montejo et al (1999)
3789	<1	-	Severe	-		Spain	-	Montejo et al (1999)
2145	<1	-	Severe	-		United States	-	Li et al (2000)
2146	<1	-	Severe	-		United States	-	Li et al (2000)
2147	<1	-	Severe	-		Spain	-	Montejo et al (1999)
3696	-	-	Severe	-	NO	United States	-	Miller et al (2012)
4622	2		Moderate			United States		Johnsen et al (2017)
4623	<1		Severe		NO	United States		Johnsen et al (2017)

c.1067G>T

p.(Trp356Leu) (310)

Variant Type:

Point

Domain:

Serine Protease

cDNA number:

1067

Variant Effect:

Missense

Location:

Exon(8)

CpG:

No. of cases reported:

No. of bases:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Individual Case Information : Show

Case ID	FIX:C(%)	FIX:Ag(%)	Severity	Type	Inhibitors	Reporting Centre	Comments	Reference
2148	14	-	Mild	-			-	Centre B9 (unpublished)
2149	7	-	Mild	-			-	Centre B13 (unpublished)
2150	7	-	Mild	-		Germany	-	Wulff et al (2001)
2151	4	90	Moderate	II			-	Centre B14 (unpublished)
2152	-	-		-		Germany	-	Wulff et al (2001)
2153	-	-		-		Germany	-	Wulff and Herrmann (1999)
2154	4	-	Moderate	-			-	Centre B18 (unpublished)
4393	8		Mild		NO	United States		Johnsen et al (2017)

c.1067G>C

p.(Trp356Ser) (310)

Variant Type:

Point

Domain:

Serine Protease

cDNA number:

1067

Variant Effect:

Missense

Location:

Exon(8)

CpG:

No. of cases reported:

No. of bases:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Individual Case Information : Show

Case ID	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Reporting Centre	Comments	Reference
2155	<1	12		Severe	II		India	-	Quadros et al, (2009)

c.1068G>A

p.(Trp356*) (310)

Variant Type:

Point

Domain:

Serine Protease

cDNA number:

1068

Variant Effect:

Nonsense

Location:

Exon(8)

CpG:

No. of cases reported:

No. of bases:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis is only available for missense variants and cannot be performed for this type (Point | Nonsense) of variant at Exon 8.

Individual Case Information : Show

Case ID	FIX:C(%)	FIX:Ag(%)	Severity	Type	Reporting Centre	Comments	Reference
2156	<1	<1	Severe	-	United States	-	Tarnower and Smith (1991)
2157	<1	-	Severe	-	New Zealand	-	Van de Water et al (1996)
2158	<1	<1	Severe	-	United States	-	Wang et al (1990)

c.1068_1069delinsAA

p.(Trp356*) (310)

Variant Type:

Indel

Domain:

Serine Protease

cDNA number:

1068

Variant Effect:

Frameshift

Location:

Exon(8)

CpG:

No. of cases reported:

No. of bases:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis is only available for missense variants and cannot be performed for this type (Indel | Frameshift) of variant at Exon 8.

Individual Case Information : Show

Case ID	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Reporting Centre	Comments	Reference
4798	<1			Severe		NO	United States		Johnsen et al (2017)

c.1068G>C

p.(Trp356Cys) (310)

Variant Type:

Point

Domain:

Serine Protease

cDNA number:

1068

Variant Effect:

Missense

Location:

Exon(8)

CpG:

No. of cases reported:

No. of bases:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Individual Case Information : Show

Case ID	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Reporting Centre	Comments	Reference
2159	<1	5		Severe	II		United States	-	Ketterling et al (1993A)
2160	3	-		Moderate	-		Germany	-	Knobloch et al (1993)

c.1068G>T

p.(Trp356Cys) (310)

Variant Type:

Point

Domain:

Serine Protease

cDNA number:

1068

Variant Effect:

Missense

Location:

Exon(8)

CpG:

No. of cases reported:

No. of bases:

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Individual Case Information : Show

Factor IX Gene (F9) Variant Database