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Search Results: 4 unique variants retrieved
c.706G>T
p.Gly236Cys (190)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20548
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
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Patient Information : Show
c.706_710delGGTCA
Gly236Ilefs*11 (190)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
20548
Mutation Effect:
Frameshift
Location:
Exon(6)
CpG:
-
No. of patients reported:
4
No. of bases:
5
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 6.
Patient Information : Show
c.707G>A
p.Gly236Asp (190)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20549
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
23
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.706G>T
p.Gly236Val (190)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
20549
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.