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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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Patient Information : Show

  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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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

Please click here 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.

Patient Information : Show


Factor IX Variant Database