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Search Results: 5 unique variants retrieved
c.84_85insAT
p.Thr29Ilefs*14 (-18)
Mutation Type:
Insertion
Domain:
Pro-Peptide
Nucleotide number:
113
Mutation Effect:
Frameshift
Location:
Exon(1)
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 (Insertion | Frameshift) of mutation at Exon 1.
Patient Information : Show
c.86C>T
p.Thr29Ile (-18)
Mutation Type:
Point
Domain:
Pro-Peptide
Nucleotide number:
115
Mutation Effect:
Missense
Location:
Exon(1)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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Patient Information : Show
c.86delC
p.Thr29Lysfs*13 (-18)
Mutation Type:
Deletion
Domain:
Pro-Peptide
Nucleotide number:
115
Mutation Effect:
Frameshift
Location:
Exon(1)
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 (Deletion | Frameshift) of mutation at Exon 1.
Patient Information : Show
c.87A>G
p.Thr29Thr (-18)
Mutation Type:
Point
Domain:
Pro-Peptide
Nucleotide number:
116
Mutation Effect:
Silent
Location:
Exon(1)
CpG:
N
No. of patients reported:
9
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 1.
Patient Information : Show
c.87A>G
p.Thr29Thr (-17)
Mutation Type:
Polymorphism
Domain:
Pro-peptide
Nucleotide number:
116
Mutation Effect:
Silent
Location:
Exon(1)
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 1.