RF Logo The European Association for Haemophilia and Allied Disorders Factor VII Variant Database EAHAD Coagulation Variant Databases

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  Search Results: 3 unique variants retrieved



  c.1442_1443dupTG
p.(Ile482*) (Legacy AA No.463)
Variant Type:
Duplication
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 9
No of bases:
2
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Duplication | Frameshift) of mutation at Exon 9

Individual Case Information : Show


  c.1444A>T
p.(Ile482Phe) (Legacy AA No.463)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATT > TTT
Variant Effect:
Missense
Location:
Exon 10
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


  c.1445T>G
p.(Ile482Ser) (Legacy AA No.463)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATT > AGT
Variant Effect:
Missense
Location:
Exon 10
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