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


  c.347G>T
p.(Ser116Ile) (Legacy AA No.97)
Variant Type:
Point
Domain:
A1
Sequence Context:
AGT > ATT
Variant Effect:
Missense
Location:
Exon 3
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.347_353delGTCTTCA
p.(Ser116Metfs*43) (Legacy AA No.97)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 3
No of bases:
7
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 3
Individual Case Information : Show

  c.348T>G
p.(Ser116Arg) (Legacy AA No.97)
Variant Type:
Point
Domain:
A1
Sequence Context:
AGT > AGG
Variant Effect:
Missense
Location:
Exon 3
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