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Search Results: 2 unique variants retrieved
c.262T>C
p.Trp88Arg (42)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6687
Mutation Effect:
Missense
Location:
Exon(3)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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Patient Information : Show
c.263G>A
p.Trp88* (42)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6688
Mutation Effect:
Nonsense
Location:
Exon(3)
CpG:
N
No. of patients reported:
3
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Point | Nonsense) of mutation at Exon 3.