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



Search Results: 3 unique variants retrieved


  c.6202_6257dup56
p.(Ser2088fs*?) (Legacy AA No.2069)
Variant Type:
Duplication
Domain:
C1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 21
No of bases:
56
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Duplication | Frameshift) of mutation at Exon 21
Individual Case Information : Show

  c.6263C>T
p.(Ser2088Phe) (Legacy AA No.2069)
Variant Type:
Point
Domain:
C1
Sequence Context:
TCT > TTT
Variant Effect:
Missense
Location:
Exon 21
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.6263C>A
p.(Ser2088Tyr) (Legacy AA No.2069)
Variant Type:
Point
Domain:
C1
Sequence Context:
TCT > TAT
Variant Effect:
Missense
Location:
Exon 21
No of bases:
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