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Search Results: 8 unique variants retrieved
c.157G>A
p.Glu53Lys (7)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6394
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.157G>C
p.Glu53Gln (7)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6394
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.158A>C
p.Glu53Ala (7)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6395
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.158A>G
p.Glu53Gly (7)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6395
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.
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c.158A>T
p.Glu53Val (7)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6395
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.158_165delAAGAGTTTinsGTAAATTGGAAG
p.Glu53Glyfs*10 (7)
Mutation Type:
Indel
Domain:
Gla
Nucleotide number:
6395
Mutation Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
8
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Indel | Frameshift) of mutation at Exon 2.
Patient Information : Show
c.158_165delinsGTAAATTGGAAG
p.Glu53Glyfs*10 (7)
Mutation Type:
Indel
Domain:
Gla
Nucleotide number:
6395
Mutation Effect:
Frameshift
Location:
Exon(2)
CpG:
-
No. of patients reported:
1
No. of bases:
7
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Indel | Frameshift) of mutation at Exon 2.
Patient Information : Show
c.159_160delAG
p.Glu53Valfs*8 (7)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6396
Mutation Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of patients reported:
8
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.