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  Search Results: 2 unique variants retrieved




  c.311_312delAT
p.Asn104Argfs*7 (58)
Mutation Type:
Deletion
Domain:
EGF1
Nucleotide number:
10425
Mutation Effect:
Frameshift
Location:
Exon(4)
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 4.

Patient Information : Show

  c.312T>G
p.Asn104Lys (58)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10426
Mutation Effect:
Missense
Location:
Exon(4)
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


Factor IX Variant Database