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: 4 unique variants retrieved



  c.463T>A
p.(Tyr155Asn) (Legacy AA No.136)
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.463_473del
p.(Tyr155Glyfs*11) (Legacy AA No.136)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
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 (Deletion | Frameshift) of mutation at Exon 4

Individual Case Information : Show


  c.463T>C
p.(Tyr155His) (Legacy AA No.136)
Variant Type:
Point
Domain:
A1
Sequence Context:
TAT > CAT
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
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


  c.464A>G
p.(Tyr155Cys) (Legacy AA No.136)
Variant Type:
Point
Domain:
A1
Sequence Context:
TAT > TGT
Variant Effect:
Missense
Location:
Exon 4
No of bases:
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