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Search Results: 4 unique variants retrieved
c.709C>T
p.Gln237* (191)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20551
Mutation Effect:
Nonsense
Location:
Exon(6)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Point | Nonsense) of mutation at Exon 6.
Patient Information : Show
c.709C>A
p.Gln237Lys (191)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20551
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.710A>T
p.Gln237Leu (191)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
20552
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.711A>G
p.Gln237Gln (191)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20553
Mutation Effect:
Silent
Location:
Exon(6)
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 (Point | Silent) of mutation at Exon 6.