In Depth Mutation Analysis: c.88G>C (p.Val30Leu)
c.88G>C
p.Val30Leu (-17)
Mutation Type:
Point
Mutation Effect:
Missense
Domain:
Pro-Peptide
Location:
Exon 1
No. of bases:
1
CpG:
N
Comments:
-
No. of patients reported:
4
Patient Information : Show
Residue Information :
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Structural Implications :
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