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.584T>G
p.(Leu195Arg) (Legacy AA No.176)
Variant Type:
Point
Domain:
A1
Sequence Context:
Variant Effect:
Missense
Location:
Exon 4
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 (Point | Missense ) of mutation at Exon 4

Individual Case Information : Show


  c.584T>C
p.(Leu195Pro) (Legacy AA No.176)
Variant Type:
Point
Domain:
A1
Sequence Context:
CTA > CCA
Variant Effect:
Missense
Location:
Exon 4
No of bases:
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