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  Search Results: 8 unique variants retrieved




  c.421T>C
p.Cys141Arg (95)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17698
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
5
No. of bases:
1

Structural Information

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  c.421T>A
p.Cys141Ser (95)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17698
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
2
No. of bases:
1

Structural Information

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  c.422G>A
p.Cys141Tyr (95)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17699
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
9
No. of bases:
1

Structural Information

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Patient Information : Show

  c.422G>C
p.Cys141Ser (95)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17699
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
1
No. of bases:
1

Structural Information

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  c.422G>T
p.Cys141Phe (95)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17699
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
1
No. of bases:
1

Structural Information

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  c.423C>A
p.Cys141* (95)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17700
Mutation Effect:
Nonsense
Location:
Exon(5)
CpG:
N
No. of patients reported:
8
No. of bases:
1

Structural Information

Structural Analysis is only available for missense mutations and cannot be performed for this type (Point | Nonsense) of mutation at Exon 5.

Patient Information : Show

  c.423C>G
p.Cys141Trp (95)
Mutation Type:
Point
Domain:
EGF2
Nucleotide number:
17700
Mutation Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of patients reported:
5
No. of bases:
1

Structural Information

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  c.[423_424ins276;409_423dup15]
p.Cys141fs*? (95)
Mutation Type:
Complex
Domain:
EGF2
Nucleotide number:
17700
Mutation Effect:
Frameshift
Location:
Exon(5)
CpG:
-
No. of patients reported:
1
No. of bases:
276

Structural Information

Structural Analysis is only available for missense mutations and cannot be performed for this type (Complex | Frameshift) of mutation at Exon 5.

Patient Information : Show


Factor IX Variant Database