In Depth Mutation Analysis: c.8G>A (p.Arg3His)
c.8G>A
p.Arg3His (-44)
Mutation Type:
Point
Mutation Effect:
Missense
Domain:
Signal Peptide
Location:
Exon 1
No. of bases:
1
CpG:
Y
Comments:
-
No. of patients reported:
1
Patient Information : Show
Residue Information :
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Structural Implications :
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