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Search Results: 2 unique variants retrieved
c.853G>T
p.Glu285* (239)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30836
Mutation Effect:
Nonsense
Location:
Exon(8)
CpG:
-
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 | Nonsense) of mutation at Exon 8.
Patient Information : Show
c.855G>C
p.Glu285Asp (239)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30838
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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