EAHAD Factor VIII Variant Database
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Search Results: 4 unique variants retrieved


  c.6637T>C
p.(Ser2213Pro) (Legacy AA No.2194)
Variant Type:
Point
Domain:
C2
Sequence Context:
TCC > CCC
Variant Effect:
Missense
Location:
Exon 24
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.6638C>G
p.(Ser2213Cys) (Legacy AA No.2194)
Variant Type:
Point
Domain:
C2
Sequence Context:
TCC > TGC
Variant Effect:
Missense
Location:
Exon 24
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.6638C>T
p.(Ser2213Phe) (Legacy AA No.2194)
Variant Type:
Point
Domain:
C2
Sequence Context:
TCC > TTC
Variant Effect:
Missense
Location:
Exon 24
No of bases:
No. of cases reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.6638C>A
p.(Ser2213Tyr) (Legacy AA No.2194)
Variant Type:
Point
Domain:
C2
Sequence Context:
TCC > TAC
Variant Effect:
Missense
Location:
Exon 24
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show