EAHAD Factor VIII Variant Database
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Search Results: 3 unique variants retrieved


  c.5096A>G
p.(Tyr1699Cys) (Legacy AA No.1680)
Variant Type:
Point
Domain:
a3
Sequence Context:
TAT > TGT
Variant Effect:
Missense
Location:
Exon 14
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.5096A>T
p.(Tyr1699Phe) (Legacy AA No.1680)
Variant Type:
Point
Domain:
a3
Sequence Context:
TAT > TTT
Variant Effect:
Missense
Location:
Exon 14
No of bases:
1
No. of cases reported:
72
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.5096A>C
p.(Tyr1699Ser) (Legacy AA No.1680)
Variant Type:
Point
Domain:
a3
Sequence Context:
TAT > TCT
Variant Effect:
Missense
Location:
Exon 14
No of bases:
No. of cases reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show