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Search Results: 2 unique variants retrieved
c.567_568delCA
p.Thr190Phefs*4 (144)
Mutation Type:
Deletion
Domain:
Linker
Nucleotide number:
20409
Mutation Effect:
Frameshift
Location:
Exon(6)
CpG:
N
No. of patients reported:
1
No. of bases:
2
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 6.
Patient Information : Show
c.569C>T
p.Thr190Ile (144)
Mutation Type:
Polymorphism
Domain:
Linker
Nucleotide number:
20411
Mutation Effect:
Missense
Location:
Exon(6)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.