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


  c.6670_6672delCCT
p.(Pro2224del) (Legacy AA No.2205)
Variant Type:
Deletion
Domain:
C2
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 24
No of bases:
3
No. of cases reported:
6
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Inframe) of mutation at Exon 24
Individual Case Information : Show

  c.6670_6672delCCT
p.(Pro2224del) (Legacy AA No.2205)
Variant Type:
Deletion
Domain:
C2
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 24
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Inframe) of mutation at Exon 24
Individual Case Information : Show

  c.6671C>T
p.(Pro2224Leu) (Legacy AA No.2205)
Variant Type:
Point
Domain:
C2
Sequence Context:
CCT > CTT
Variant Effect:
Missense
Location:
Exon 24
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show