EAHAD Factor IX Variant Database

Search Results: 6 unique variants retrieved

c.301C>G

p.(Pro101Ala) Legacy AA 55

Variant Type:

Point

Domain:

EGF1

cDNA number:

301

Variant Effect:

Missense

Location:

Exon(4)

CpG:

No. of cases reported:

No. of bases:

Allele Frequency (MAF):

4.56E-5

Molecular Graphics and Amino-acid Alignments

Individual Case Information : Show

Case ID	FIX:C(%)	FIX:Ag(%)	Severity	Type	Inhibitors	Reporting Centre	Comments	Reference
615	10 to 12	49	Mild	II		United Kingdom	-	Green et al (1989)
616	10	<30	Mild	-		United States	-	Chen et al (1991a)
617	8	53	Mild	II			-	Centre B14 (unpublished)
618	6	-	Mild	-		United States	-	Li et al (2000)
619	6	-	Mild	-		United States	-	Li et al (2000)
620	-	-	Severe	-		United States	-	Li et al (2000)
621	11	58	Mild	II		United States	-	Spitzer et al (1990)
3662	-	-	Mild	-	NO	United States	-	Miller et al (2012)
3906	5.1		Mild			United States		Johnsen et al (2017)
3907	5.1		Mild			United States		Johnsen et al (2017)
3908	7		Mild		NO	United States		Johnsen et al (2017)
3909	8		Mild		NO	United States		Johnsen et al (2017)
3910	11		Mild			United States		Johnsen et al (2017)
3911	10		Mild		NO	United States		Johnsen et al (2017)
3912	11		Mild			United States		Johnsen et al (2017)
3913	2		Moderate		NO	United States		Johnsen et al (2017)
3914	9		Mild		NO	United States		Johnsen et al (2017)
3915	11		Mild			United States		Johnsen et al (2017)
3916	9		Mild			United States		Johnsen et al (2017)
3917	9		Mild		NO	United States		Johnsen et al (2017)
3918	5		Moderate		NO	United States		Johnsen et al (2017)
3919	8		Mild		NO	United States		Johnsen et al (2017)
3920	6		Mild		NO	United States		Johnsen et al (2017)
3921	6		Mild		NO	United States		Johnsen et al (2017)
3922	8		Mild		NO	United States		Johnsen et al (2017)

c.301C>T

p.(Pro101Ser) Legacy AA 55

Variant Type:

Point

Domain:

EGF1

cDNA number:

301

Variant Effect:

Missense

Location:

Exon(4)

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
622	12	52		Mild	II		United Kingdom	-	Green et al (1991)

c.301C>A

p.(Pro101Thr) Legacy AA 55

Variant Type:

Point

Domain:

EGF1

cDNA number:

301

Variant Effect:

Missense

Location:

Exon(4)

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
614	13	95		Mild	II			-	Centre B24 (unpublished)
3661	-	-		Mild	-	NO	United States	-	Miller et al (2012)

c.302C>G

p.(Pro101Arg) Legacy AA 55

Variant Type:

Point

Domain:

EGF1

cDNA number:

302

Variant Effect:

Missense

Location:

Exon(4)

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
624	22	-		Mild	-		Spain	-	Montejo et al (1999)

c.302C>A

p.(Pro101Gln) Legacy AA 55

Variant Type:

Point

Domain:

EGF1

cDNA number:

302

Variant Effect:

Missense

Location:

Exon(4)

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
623	6	34		Mild	II		United States	-	Ketterling et al (1993A)

c.302C>T

p.(Pro101Leu) Legacy AA 55

Variant Type:

Point

Domain:

EGF1

cDNA number:

302

Variant Effect:

Missense

Location:

Exon(4)

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