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Search Results: 4 unique variants retrieved
c.271T>A
p.Tyr91Asn (45)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6696
Mutation Effect:
Missense
Location:
Exon(3)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
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c.271T>G
p.Tyr91Asp (45)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6696
Mutation Effect:
Missense
Location:
Exon(3)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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to show detailed structural analysis of this mutation.
Patient Information : Show
c.272A>G
p.Tyr91Cys (45)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6697
Mutation Effect:
Missense
Location:
Exon(3)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
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here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.273T>C
p.Tyr91Tyr (45)
Mutation Type:
Polymorphism
Domain:
Gla
Nucleotide number:
6698
Mutation Effect:
Silent
Location:
Exon(3)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Polymorphism | Silent) of mutation at Exon 3.