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

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  Search Results: 2 unique variants retrieved



  c.388G>C
p.(Gly130Arg) (Legacy AA No.111)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGA > CGA
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.388+4delA
(Legacy AA No.111)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Splice
Location:
Intron 3
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Splice) of mutation at Intron 3

Individual Case Information : Show