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Search Results: 5 unique variants retrieved
c.229delG
p.Val77Phefs*27 (31)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6466
Mutation Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of patients reported:
2
No. of bases:
1
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.230_231delTT
p.Val77Phefs*2 (31)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6467
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.230_231delTTinsA
p.Val77Aspfs*27 (31)
Mutation Type:
Indel
Domain:
Gla
Nucleotide number:
6467
Mutation Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
3
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.230T>G
p.Val77Gly (31)
Mutation Type:
Polymorphism
Domain:
Gla
Nucleotide number:
6467
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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Patient Information : Show
c.231T>G
p.Val77Val (31)
Mutation Type:
Polymorphism
Domain:
Gla
Nucleotide number:
6468
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 (Polymorphism | Silent) of mutation at Exon 2.