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  Search Results: 4 unique variants retrieved



p.Ala251Pro (Legacy AA No. 191)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
CCG > GCG
Variant Effect:
Missense
Location:
Exon (8)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Ala251Thr (Legacy AA No. 191)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GCG > ACG
Variant Effect:
Missense
Location:
Exon (8)
No of bases:
1
No. of patients reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Ala251Glu (Legacy AA No. 191)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GAG > GCG
Variant Effect:
Missense
Location:
Exon (8)
No of bases:
1
No. of patients reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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p.Ala251Val (Legacy AA No. 191)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GTG > GCG
Variant Effect:
Missense
Location:
Exon (8)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show


Factor VII Variant Database