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Search Results: 2 unique variants retrieved
c.1340T>A
p.Val447Glu (401)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31323
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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Patient Information : Show
c.1340_1345delinsCATAA
p.Val447Alafs*2 (401)
Mutation Type:
Indel
Domain:
Serine Protease
Nucleotide number:
31323
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
1
No. of bases:
5
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Indel | Frameshift) of mutation at Exon 8.