Data Export Options:
Search Results: 2 unique variants retrieved
c.265A>G
p.Lys89Glu (43)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6690
Mutation Effect:
Missense
Location:
Exon(3)
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.265A>T
p.Lys89* (43)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6690
Mutation Effect:
Nonsense
Location:
Exon(3)
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 3.