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Search Results: 2 unique variants retrieved
c.129delG
p.Pro44Glnfs*60 (-3)
Mutation Type:
Deletion
Domain:
Pro-Peptide
Nucleotide number:
6366
Mutation Effect:
Frameshift
Location:
Exon(2)
CpG:
Y
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 (Deletion | Frameshift) of mutation at Exon 2.
Patient Information : Show
c.130C>T
p.Pro44Ser (-2)
Mutation Type:
Polymorphism
Domain:
Pro-Peptide
Nucleotide number:
6367
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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