Data Export Options:


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

  Search Results: 5 unique variants retrieved




  c.343T>C
p.Tyr115His (69)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10457
Mutation Effect:
Missense
Location:
Exon(4)
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.343T>A
p.Tyr115Asn (69)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10457
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
-
No. of patients reported:
2
No. of bases:
1

Structural Information

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

Patient Information : Show

  c.344A>C
p.Tyr115Ser (69)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10458
Mutation Effect:
Missense
Location:
Exon(4)
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.344A>G
p.Tyr115Cys (69)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10458
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
12
No. of bases:
1

Structural Information

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

Patient Information : Show

  c.345T>A
p.Tyr115Tyr (69)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10459
Mutation Effect:
Silent
Location:
Exon(4)
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 4.

Patient Information : Show


Factor IX Variant Database