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

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  Search Results: 1 unique variant retrieved.



  c.5136G>T
p.(Lys1712Asn) (Legacy AA No.1693)
Variant Type:
Point
Domain:
A3
Sequence Context:
AAG > AAT
Variant Effect:
Missense
Location:
Exon 14
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show