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

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  Search Results: 3 unique variants retrieved



  c.6359T>G
p.(Phe2120Cys) (Legacy AA No.2101)
Variant Type:
Point
Domain:
C1
Sequence Context:
TTT > TGT
Variant Effect:
Missense
Location:
Exon 22
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  insA in codon 2120
(Legacy AA No.2101)
Variant Type:
Insertion
Domain:
C1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 22
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Insertion | Frameshift) of mutation at Exon 22

Individual Case Information : Show


  c.6360T>G
p.(Phe2120Leu) (Legacy AA No.2101)
Variant Type:
Point
Domain:
C1
Sequence Context:
TTT > TTG
Variant Effect:
Missense
Location:
Exon 22
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show