EAHAD Factor VIII Variant Database
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Factor VIII Gene (F8) Variant Database  

F8
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Search Results: 2 unique variants retrieved

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  c.5428delT
p.(Ser1810Leufs*61) (Legacy AA No.1791)
Variant Type:
Deletion
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 16
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 16
Individual Case Information : Show

  c.5428T>C
p.(Ser1810Pro) (Legacy AA No.1791)
Variant Type:
Point
Domain:
A3
Sequence Context:
TCT > CCT
Variant Effect:
Missense
Location:
Exon 16
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show
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