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  Search Results: 2 unique variants retrieved




  c.544T>C
p.Ser182Pro (136)
Mutation Type:
Polymorphism
Domain:
Linker
Nucleotide number:
20386
Mutation Effect:
Missense
Location:
Exon(6)
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.545_546delCT
p.Ser182Cysfs*6 (136)
Mutation Type:
Deletion
Domain:
Linker
Nucleotide number:
20387
Mutation Effect:
Frameshift
Location:
Exon(6)
CpG:
N
No. of patients reported:
8
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 6.

Patient Information : Show


Factor IX Variant Database