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


  c.6919_6920delGA
p.(Asp2307Leufs*77) (Legacy AA No.2288)
Variant Type:
Deletion
Domain:
C2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 26
No of bases:
2
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 26
Individual Case Information : Show

  c.6919G>T
p.(Asp2307Tyr) (Legacy AA No.2288)
Variant Type:
Point
Domain:
C2
Sequence Context:
GAC > TAC
Variant Effect:
Missense
Location:
Exon 26
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.6920A>C
p.(Asp2307Ala) (Legacy AA No.2288)
Variant Type:
Point
Domain:
C2
Sequence Context:
GAC > GCC
Variant Effect:
Missense
Location:
Exon 26
No of bases:
1
No. of cases reported:
9
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show