Data Export Options:
Search Results: 3 unique variants retrieved
c.145T>C
p.Ser49Pro (3)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6382
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.146C>G
p.Ser49* (3)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6383
Mutation Effect:
Nonsense
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 | Nonsense) of mutation at Exon 2.
Patient Information : Show
c.147delA
p.Ser49Serfs*55 (3)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6384
Mutation Effect:
Frameshift
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 (Deletion | Frameshift) of mutation at Exon 2.