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Search Results: 2 unique variants retrieved
c.38delG
p.Gly13Alafs*8 (-34)
Mutation Type:
Deletion
Domain:
Signal Peptide
Nucleotide number:
67
Mutation Effect:
Frameshift
Location:
Exon(1)
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 (Deletion | Frameshift) of mutation at Exon 1.
Patient Information : Show
c.38G>C
p.Gly13Ala (-33)
Mutation Type:
Polymorphism
Domain:
Signal Peptide
Nucleotide number:
67
Mutation Effect:
Missense
Location:
Exon(1)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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