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.328A>G
p.(Met110Val) (Legacy AA No.91)
Variant Type:
Point
Domain:
A1
Sequence Context:
ATG > GTG
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.330G>A
p.(Met110Ile) (Legacy AA No.91)
Variant Type:
Point
Domain:
A1
Sequence Context:
ATG > ATA
Variant Effect:
Missense
Location:
Exon 3
No of bases:
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