In Depth Mutation Analysis: c.572G>C (p.Arg191Pro)
c.572G>C
p.Arg191Pro (145)
Mutation Type:
Point
Mutation Effect:
Missense
Domain:
Linker
Location:
Exon 6
No. of bases:
1
CpG:
Y
Comments:
-
No. of patients reported:
8
Patient Information : Show
Residue Information :
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Structural Implications :
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