Data Export Options:


UNIQUE (Without Patient Data) :
MULTIPLE (With Patient Data) :

  Search Results: 3 unique variants retrieved




  c.181G>T
p.Glu61Glu (15)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6418
Mutation Effect:
Silent
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
1

Structural Information

Structural Analysis is only available for missense mutations and cannot be performed for this type (Point | Silent) of mutation at Exon 2.

Patient Information : Show

  c.181G>C
p.Glu61Gln (15)
Mutation Type:
Polymorphism
Domain:
Gla
Nucleotide number:
6418
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
-
No. of patients reported:
1
No. of bases:
1

Structural Information

Please click here to show detailed structural analysis of this mutation.

Patient Information : Show

  c.182_185delAGAG
p.Glu61Glufs*42 (15)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6419
Mutation Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of patients reported:
3
No. of bases:
4

Structural Information

Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 2.

Patient Information : Show


Factor IX Variant Database