Data Export Options:
Search Results: 5 unique variants retrieved
c.163T>A
p.Phe55Ile (9)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6400
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
16
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.164T>C
p.Phe55Ser (9)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6401
Mutation Effect:
Missense
Location:
Exon(2)
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.164T>G
p.Phe55Cys (9)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6401
Mutation Effect:
Missense
Location:
Exon(2)
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.164_173delTTGTTCAAGG
p.Phe55* (9)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6401
Mutation Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
10
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
c.165_169delTGTTC
p.Phe55* (9)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6402
Mutation Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
5
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 2.