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Search Results: 4 unique variants retrieved
c.199G>T
p.Glu67* (21)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6436
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.199G>A
p.Glu67Lys (21)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6436
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
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.200_209del
p.Glu67Valfs*34 (21)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6437
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.201A>C
p.Glu67Asp (21)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6438
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.