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Search Results: 6 unique variants retrieved
c.204_205delGT
p.Cys69fs*? (23)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6441
Mutation Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
2
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.205T>G
p.Cys69Gly (23)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6442
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.205T>C
p.Cys69Arg (23)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6442
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
6
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.205T>A
p.Cys69Ser (23)
Mutation Type:
Polymorphism
Domain:
Gla
Nucleotide number:
6442
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.206G>A
p.Cys69Tyr (23)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6443
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
11
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.206_207delGT
p.Cys69* (23)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6443
Mutation Effect:
Nonsense
Location:
Exon(2)
CpG:
-
No. of patients reported:
1
No. of bases:
2
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Nonsense) of mutation at Exon 2.