EAHAD Factor VIII Variant Database

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Data Display Options:

UNIQUE (Without Case Data) :

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MULTIPLE (With Case Data) :

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SCREEN TABLE

Search Results: 2 unique variants retrieved

c.5329C>T

p.(Leu1777Phe) (Legacy AA No.1758)

Variant Type:

Point

Domain:

A3

Sequence Context:

CTC > TTC

Variant Effect:

Missense

Location:

Exon 15

No of bases:

1

No. of cases reported:

3

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
5332	31					Mild		No	Reitter et al (2010)	Austria
9143	13			16	I	Mild		No	Boekhorst et al (2005)	Netherlands
9161						Mild		No	Boekhorst et al (2005)	Netherlands

c.5330T>C

p.(Leu1777Pro) (Legacy AA No.1758)

Variant Type:

Point

Domain:

A3

Sequence Context:

CTC > CCC

Variant Effect:

Missense

Location:

Exon 15

No of bases:

1

No. of cases reported:

3

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Individual Case Information : Show