EAHAD Factor VIII Variant Database
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Search Results: 4 unique variants retrieved


  c.1504G>T
p.(Val502Phe) (Legacy AA No.483)
Variant Type:
Point
Domain:
A2
Sequence Context:
GTC > TTC
Variant Effect:
Missense
Location:
Exon 10
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.1505T>A
p.(Val502Asp) (Legacy AA No.483)
Variant Type:
Point
Domain:
A2
Sequence Context:
GTC > GAC
Variant Effect:
Missense
Location:
Exon 10
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.1505T>G
p.(Val502Gly) (Legacy AA No.483)
Variant Type:
Point
Domain:
A2
Sequence Context:
GTC > GGC
Variant Effect:
Missense
Location:
Exon 10
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.1506_1516delCCGTCCTTTGT
p.(Val502Valfs*10) (Legacy AA No.483)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 10
No of bases:
11
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 10
Individual Case Information : Show