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Search Results: 3 unique variants retrieved
c.787_789delGTA
Val263del (217)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30102
Mutation Effect:
Inframe
Location:
Exon(7)
CpG:
-
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 (Deletion | Inframe) of mutation at Exon 7.
Patient Information : Show
c.788T>A
p.Val263Glu (217)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30103
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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Patient Information : Show
c.[788_789ins290;774_788dup14]
p.Val263fs*11 (217)
Mutation Type:
Complex
Domain:
Serine Protease
Nucleotide number:
30103
Mutation Effect:
Frameshift
Location:
Exon(7)
CpG:
N
No. of patients reported:
1
No. of bases:
290
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Complex | Frameshift) of mutation at Exon 7.