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Search Results: 3 unique variants retrieved
c.730T>C
p.Leu244Leu (198)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30045
Mutation Effect:
Silent
Location:
Exon(7)
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 7.
Patient Information : Show
c.731T>C
p.Leu244Ser (198)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30046
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.731T>G
p.Leu244Trp (198)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30046
Mutation Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.