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



Search Results: 3 unique variants retrieved


  c.5405A>G
p.(Tyr1802Cys) (Legacy AA No.1783)
Variant Type:
Point
Domain:
A3
Sequence Context:
TAT > TGT
Variant Effect:
Missense
Location:
Exon 16
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.5405A>C
p.(Tyr1802Ser) (Legacy AA No.1783)
Variant Type:
Point
Domain:
A3
Sequence Context:
TAT > TCT
Variant Effect:
Missense
Location:
Exon 16
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.5406T>G
p.(Tyr1802*) (Legacy AA No.1783)
Variant Type:
Point
Domain:
A3
Sequence Context:
TAT > TAG
Variant Effect:
Nonsense
Location:
Exon 16
No of bases:
1
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 16
Individual Case Information : Show