EAHAD Factor VIII Variant Database

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Data Display Options:

UNIQUE (Without Case Data) :

EXCEL/CSV

SCREEN TABLE

MULTIPLE (With Case Data) :

EXCEL/CSV

SCREEN TABLE

Search Results: 2 unique variants retrieved

c.5573C>G

p.(Ser1858Cys) (Legacy AA No.1839)

Variant Type:

Point

Domain:

A3

Sequence Context:

TCT > TGT

Variant Effect:

Missense

Location:

Exon 16

No of bases:

1

No. of cases reported:

4

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Individual Case Information : Show

Case ID	FVIII:C% (presumed 1-st)	FVIII:C% (2-st/Chr)	Assay Ratio (1-st/2-st)	FVIII:Ag(%)	Type I/II	Severity	Comments	Inhibitors	Reference	Reporting Centre
3287	<1					Severe		No	Cutler et al (2002)	United Kingdom
10155	<1					Severe		Yes	Gouw et al (2011)	Netherlands
10156	<1					Severe		Yes	Gouw et al (2011)	Netherlands
10157	<1					Severe		Yes	Gouw et al (2011)	Netherlands

c.5573C>T

p.(Ser1858Phe) (Legacy AA No.1839)

Variant Type:

Point

Domain:

A3

Sequence Context:

TCT > TTT

Variant Effect:

Missense

Location:

Exon 16

No of bases:

1

No. of cases reported:

2

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Individual Case Information : Show