In Depth Mutation Analysis: c.7C>A (p.Arg3Ser)
c.7C>A
p.Arg3Ser (-43)
Mutation Type:
Polymorphism
Mutation Effect:
Missense
Domain:
Signal Peptide
Location:
Exon 1
No. of bases:
1
CpG:
-
Comments:
dbSNP database
No. of patients reported:
1
Patient Information : Show
Residue Information :
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Structural Implications :
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