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.1834C>T
p.(Arg612Cys) (Legacy AA No.593)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGC > TGC
Variant Effect:
Missense
Location:
Exon 12
No of bases:
1
No. of cases reported:
242
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.1835G>A
p.(Arg612His) (Legacy AA No.593)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGC > CAC
Variant Effect:
Missense
Location:
Exon 12
No of bases:
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.1835G>C
p.(Arg612Pro) (Legacy AA No.593)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGC > CCC
Variant Effect:
Missense
Location:
Exon 12
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show