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



Search Results: 4 unique variants retrieved


  c.1762G>C
p.(Asp588His) (Legacy AA No.569)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAC > CAC
Variant Effect:
Missense
Location:
Exon 12
No of bases:
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.1762G>T
p.(Asp588Tyr) (Legacy AA No.569)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAC > TAC
Variant Effect:
Missense
Location:
Exon 12
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.1763A>G
p.(Asp588Gly) (Legacy AA No.569)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAC > GGC
Variant Effect:
Missense
Location:
Exon 12
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.1764C>A
p.(Asp588Glu) (Legacy AA No.569)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAC > GAA
Variant Effect:
Missense
Location:
Exon 12
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