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

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  Search Results: 4 unique variants retrieved



  c.6043T>C
p.(Trp2015Arg) (Legacy AA No.1996)
Variant Type:
Point
Domain:
A3
Sequence Context:
Variant Effect:
Missense
Location:
Exon 19
No of bases:
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Missense ) of mutation at Exon 19

Individual Case Information : Show


  c.6044G>A
p.(Trp2015*) (Legacy AA No.1996)
Variant Type:
Point
Domain:
A3
Sequence Context:
TGG > TAG
Variant Effect:
Nonsense
Location:
Exon 19
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 | Nonsense) of mutation at Exon 19

Individual Case Information : Show


  c.6045G>T
p.(Trp2015Cys) (Legacy AA No.1996)
Variant Type:
Point
Domain:
A3
Sequence Context:
TGG > TGT
Variant Effect:
Missense
Location:
Exon 19
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show


  c.6045G>C
p.(Trp2015Cys) (Legacy AA No.1996)
Variant Type:
Point
Domain:
A3
Sequence Context:
TGG > TGC
Variant Effect:
Missense
Location:
Exon 19
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show