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


  c.5923dupA
p.(Ile1975Asnfs*16) (Legacy AA No.1956)
Variant Type:
Duplication
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 18
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 (Duplication | Frameshift) of mutation at Exon 18
Individual Case Information : Show

  c.5923A>T
p.(Ile1975Phe) (Legacy AA No.1956)
Variant Type:
Point
Domain:
A3
Sequence Context:
ATT > TTT
Variant Effect:
Missense
Location:
Exon 18
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.5924T>A
p.(Ile1975Asn) (Legacy AA No.1956)
Variant Type:
Point
Domain:
A3
Sequence Context:
ATT > AAT
Variant Effect:
Missense
Location:
Exon 18
No of bases:
1
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.5924T>C
p.(Ile1975Thr) (Legacy AA No.1956)
Variant Type:
Point
Domain:
A3
Sequence Context:
ATT > ACT
Variant Effect:
Missense
Location:
Exon 18
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show