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


  c.5140delA
p.(Thr1714Hisfs*17) (Legacy AA No.1695)
Variant Type:
Deletion
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 14
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 14
Individual Case Information : Show

  c.5140A>T
p.(Thr1714Ser) (Legacy AA No.1695)
Variant Type:
Point
Domain:
A3
Sequence Context:
ACA > TCA
Variant Effect:
Missense
Location:
Exon 14
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

  c.5141C>G
p.(Thr1714Arg) (Legacy AA No.1695)
Variant Type:
Point
Domain:
A3
Sequence Context:
ACA > AGA
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