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Search Results: 3 unique variants retrieved
c.917A>C
p.Asn306Thr (260)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30900
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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Patient Information : Show
c.917dupA
p.Asn306Lysfs*5 (260)
Mutation Type:
Duplication
Domain:
Serine Protease
Nucleotide number:
30900
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
-
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 (Duplication | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.917A>G
p.Asn306Ser (260)
Mutation Type:
Polymorphism
Domain:
Serine Protease
Nucleotide number:
30900
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.