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.6752T>C
p.(Val2251Ala) (Legacy AA No.2232)
Variant Type:
Point
Domain:
C2
Sequence Context:
GTG > GCG
Variant Effect:
Missense
Location:
Exon 25
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.6752T>A
p.(Val2251Glu) (Legacy AA No.2232)
Variant Type:
Point
Domain:
C2
Sequence Context:
GTG > GAG
Variant Effect:
Missense
Location:
Exon 25
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show