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

  Data Display Options:

UNIQUE (Without Case Data) :
EXCEL/CSV
SCREEN TABLE
MULTIPLE (With Case Data) :
EXCEL/CSV
SCREEN TABLE

  Search Results: 2 unique variants retrieved



  c.6956dupC
p.(Leu2320Valfs*65) (Legacy AA No.2301)
Variant Type:
Duplication
Domain:
C2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 26
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 (Duplication | Frameshift) of mutation at Exon 26

Individual Case Information : Show


  c.6959T>C
p.(Leu2320Ser) (Legacy AA No.2301)
Variant Type:
Point
Domain:
C2
Sequence Context:
TTA > TCA
Variant Effect:
Missense
Location:
Exon 26
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