EAHAD Factor VIII Variant Database
Data Display Options:
UNIQUE (Without Case Data) :
MULTIPLE (With Case Data) :



Search Results: 5 unique variants retrieved


  c.6622C>T
p.(Gln2208*) (Legacy AA No.2189)
Variant Type:
Point
Domain:
C2
Sequence Context:
CAG > TAG
Variant Effect:
Nonsense
Location:
Exon 24
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 (Point | Nonsense) of mutation at Exon 24
Individual Case Information : Show

  c.6622C>G
p.(Gln2208Glu) (Legacy AA No.2189)
Variant Type:
Point
Domain:
C2
Sequence Context:
CAG > GAG
Variant Effect:
Missense
Location:
Exon 24
No of bases:
1
No. of cases reported:
28
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.6623A>G
p.(Gln2208Arg) (Legacy AA No.2189)
Variant Type:
Point
Domain:
C2
Sequence Context:
CAG > CGG
Variant Effect:
Missense
Location:
Exon 24
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.6623A>C
p.(Gln2208Pro) (Legacy AA No.2189)
Variant Type:
Point
Domain:
C2
Sequence Context:
CAG > CCG
Variant Effect:
Missense
Location:
Exon 24
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.6623_6625delAGA
p.(Gln2208_Ile2209delinsLeu) (Legacy AA No.2189)
Variant Type:
Deletion
Domain:
C2
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 24
No of bases:
3
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