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: 4 unique variants retrieved



  c.1945T>C
p.(Cys649Arg) (Legacy AA No.630)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGT > CGT
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.1945T>G
p.(Cys649Gly) (Legacy AA No.630)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGT > GGT
Variant Effect:
Missense
Location:
Exon 13
No of bases:
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.1945T>A
p.(Cys649Ser) (Legacy AA No.630)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGT > AGT
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.1946G>A
p.(Cys649Tyr) (Legacy AA No.630)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGT > TAT
Variant Effect:
Missense
Location:
Exon 13
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