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.1127T>G
p.(Val376Gly) (Legacy AA No.357)
Variant Type:
Point
Domain:
a1
Sequence Context:
GTG > GGG
Variant Effect:
Missense
Location:
Exon 8
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.1127_1138del
p.(Val376_Phe379del) (Legacy AA No.357)
Variant Type:
Deletion
Domain:
a1
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 8
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Inframe) of mutation at Exon 8

Individual Case Information : Show