In Depth Mutation Analysis: c.392A>T (p.Asp131Val)
c.392A>T
p.Asp131Val (85)
Mutation Type:
Point
Mutation Effect:
Missense
Domain:
EGF2
Location:
Exon 5
No. of bases:
1
CpG:
-
Comments:
-
No. of patients reported:
1
Patient Information : Show
Residue Information :
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Structural Implications :
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