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Search Results: 4 unique variants retrieved
c.142A>G
p.Asn48Asp (2)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6379
Mutation Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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c.142A>T
p.Asn48Tyr (2)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6379
Mutation Effect:
Missense
Location:
Exon(2)
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.143A>T
p.Asn48Ile (2)
Mutation Type:
Point
Domain:
Gla
Nucleotide number:
6380
Mutation Effect:
Missense
Location:
Exon(2)
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.143delA
p.Asn48Ilefs*56 (2)
Mutation Type:
Deletion
Domain:
Gla
Nucleotide number:
6380
Mutation Effect:
Frameshift
Location:
Exon(2)
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 (Deletion | Frameshift) of mutation at Exon 2.