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



Search Results: 2 unique variants retrieved


  c.4006C>T
p.(Gln1336*) (Legacy AA No.1317)
Variant Type:
Point
Domain:
B
Sequence Context:
CAA > TAA
Variant Effect:
Nonsense
Location:
Exon 14
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 14
Individual Case Information : Show

  c.4006C>A
p.(Gln1336Lys) (Legacy AA No.1317)
Variant Type:
Point
Domain:
B
Sequence Context:
CAA > AAA
Variant Effect:
Missense
Location:
Exon 14
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