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Search Results: 3 unique variants retrieved
c.181G>T
p.Glu61Glu (15)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6418
Mutation Effect:
Silent
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 | Silent) of mutation at Exon 2.
Patient Information : Show
c.181G>C
p.Glu61Gln (15)
Mutation Type:
Polymorphism
Domain:
Gla
Nucleotide number:
6418
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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Patient Information : Show
c.182_185delAGAG
p.Glu61Glufs*42 (15)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6419
Mutation Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of patients reported:
3
No. of bases:
4
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 2.