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

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UNIQUE (Without Case Data) :
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SCREEN TABLE
MULTIPLE (With Case Data) :
EXCEL/CSV
SCREEN TABLE

  Search Results: 3 unique variants retrieved



  c.490G>A
p.(Gly164Ser) (Legacy AA No.145)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGT > AGT
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.491G>A
p.(Gly164Asp) (Legacy AA No.145)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGT > GAT
Variant Effect:
Missense
Location:
Exon 4
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


  c.491G>T
p.(Gly164Val) (Legacy AA No.145)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGT > GTT
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
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