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.1474T>C
p.(Tyr492His) (Legacy AA No.473)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAT > CAT
Variant Effect:
Missense
Location:
Exon 10
No of bases:
1
No. of cases reported:
26
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.1475A>G
p.(Tyr492Cys) (Legacy AA No.473)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAT > TGT
Variant Effect:
Missense
Location:
Exon 10
No of bases:
1
No. of cases reported:
15
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show