EAHAD Factor VIII Variant Database
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Search Results: 3 unique variants retrieved


  c.396dupA
p.(Tyr133Ilefs*1) (Legacy AA No.114)
Variant Type:
Duplication
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 4
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Duplication | Frameshift) of mutation at Exon 4
Individual Case Information : Show

  c.397T>C
p.(Tyr133His) (Legacy AA No.114)
Variant Type:
Point
Domain:
A1
Sequence Context:
TAT > CAT
Variant Effect:
Missense
Location:
Exon 4
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.398A>G
p.(Tyr133Cys) (Legacy AA No.114)
Variant Type:
Point
Domain:
A1
Sequence Context:
TAT > TGT
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
11
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show