Data Export Options:


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

  Search Results: 6 unique variants retrieved




  c.967G>T
p.Glu323* (277)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30950
Mutation Effect:
Nonsense
Location:
Exon(8)
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 | Nonsense) of mutation at Exon 8.

Patient Information : Show

  c.967G>A
p.Glu323Lys (277)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30950
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
3
No. of bases:
1

Structural Information

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

Patient Information : Show

  c.967_974delGAACCCTT
p.Glu323Serfs*13 (277)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30950
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
8

Structural Information

Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 8.

Patient Information : Show

  c.967G>A
p.Glu323Lys (277)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30950
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
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.969_975delACCCTTA
p.Glu323fs*? (277)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30952
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
7

Structural Information

Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 8.

Patient Information : Show

  c.969A>G
p.Glu323Glu (277)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30952
Mutation Effect:
Silent
Location:
Exon(8)
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 (Polymorphism | Silent) of mutation at Exon 8.

Patient Information : Show


Factor IX Variant Database