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Search Results: 3 unique variants retrieved
c.874C>A
p.Gln292Lys (246)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30857
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.874delC
p.Gln292Lysfs*5 (246)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30857
Mutation Effect:
Frameshift
Location:
Exon(8)
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 8.
Patient Information : Show
c.875A>C
p.Gln292Pro (246)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30858
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.