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Search Results: 2 unique variants retrieved
c.574G>C
p.Ala192Pro (146)
Mutation Type:
Point
Domain:
Act-Peptide
Nucleotide number:
20416
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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Patient Information : Show
c.575delC
p.Ala192Valfs*11 (146)
Mutation Type:
Deletion
Domain:
Act-Peptide
Nucleotide number:
20417
Mutation Effect:
Frameshift
Location:
Exon(6)
CpG:
N
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 (Deletion | Frameshift) of mutation at Exon 6.