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Search Results: 2 unique variants retrieved
c.583_584insT
p.Pro197Serfs*2 (151)
Mutation Type:
Insertion
Domain:
Act-Peptide
Nucleotide number:
20425
Mutation Effect:
Frameshift
Location:
Exon(6)
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 (Insertion | Frameshift) of mutation at Exon 6.
Patient Information : Show
c.589C>T
p.Pro197Ser (151)
Mutation Type:
Polymorphism
Domain:
Act-Peptide
Nucleotide number:
20431
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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