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

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MULTIPLE (With Case Data) :
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  Search Results: 2 unique variants retrieved



  c.6775G>T
p.(Val2259Phe) (Legacy AA No.2240)
Variant Type:
Point
Domain:
C2
Sequence Context:
GTC > TTC
Variant Effect:
Missense
Location:
Exon 25
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.6776T>A
p.(Val2259Asp) (Legacy AA No.2240)
Variant Type:
Point
Domain:
C2
Sequence Context:
Variant Effect:
Missense
Location:
Exon 25
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 (Point | Missense ) of mutation at Exon 25

Individual Case Information : Show