In Depth Mutation Analysis: c.50T>A (p.Ile17Asn)
c.50T>A
p.Ile17Asn (-30)
Mutation Type:
Point
Mutation Effect:
Missense
Domain:
Signal Peptide
Location:
Exon 1
No. of bases:
1
CpG:
N
Comments:
-
No. of patients reported:
3
Patient Information : Show
Residue Information :
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Structural Implications :
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