EAHAD Factor VIII Variant Database
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Factor VIII Gene (F8) Variant Database  

F8
Data Display Options:
UNIQUE (Without Case Data) :
EXCEL/CSV
SCREEN TABLE
MULTIPLE (With Case Data) :
EXCEL/CSV
SCREEN TABLE



Search Results: 3 unique variants retrieved


  c.5993A>G
p.(Tyr1998Cys) (Legacy AA No.1979)
Variant Type:
Point
Domain:
A3
Sequence Context:
TAT > TGT
Variant Effect:
Missense
Location:
Exon 18
No of bases:
1
No. of cases reported:
13
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.5993A>C
p.(Tyr1998Ser) (Legacy AA No.1979)
Variant Type:
Point
Domain:
A3
Sequence Context:
TAT > TCT
Variant Effect:
Missense
Location:
Exon 18
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.5994T>A
p.(Tyr1998*) (Legacy AA No.1979)
Variant Type:
Point
Domain:
A3
Sequence Context:
TAT > TAA
Variant Effect:
Nonsense
Location:
Exon 18
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 (Point | Nonsense) of mutation at Exon 18
Individual Case Information : Show