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Search Results: 3 unique variants retrieved
c.178C>T
p.Leu60Phe (14)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6415
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
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Patient Information : Show
c.179T>C
p.Leu60Pro (14)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6416
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.179_180delTT
p.Leu60Argfs*10 (14)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6416
Mutation Effect:
Frameshift
Location:
Exon(2)
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 2.