Factor VII Gene (F7)

Variant Database

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  Search Results: 20 unique variants retrieved



  c.152C>A
p.Ala51Asp (Legacy AA No. -9)
Variant Type:
Point
Domain:
Propeptide
Sequence Context:
GAC > GCC
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.158dup
p.Val54Argfs*53 (Legacy AA No. -6)
Variant Type:
Duplication
Domain:
Propeptide
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon (3)
No of bases:
0
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Duplication | Frameshift) of the variant at Exon 3

Patient Information : Show

  c.160G>A
p.Val54Ile (Legacy AA No. -6)
Variant Type:
Point
Domain:
Propeptide
Sequence Context:
ATC > GTC
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.175_180dupCGGCGC
p.Arg59_Arg60dup ArgArg (Legacy AA No. 400)
Variant Type:
Duplication
Domain:
Propeptide
Sequence Context:
Variant Effect:
Inframe
Location:
Exon (3)
No of bases:
6
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Duplication | Inframe) of the variant at Exon 3

Patient Information : Show

  c.178C>T
p.Arg60Cys (Legacy AA No. -1)
Variant Type:
Point
Domain:
Propeptide
Sequence Context:
TGC > CGG
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.178C>G
p.Arg60Gly (Legacy AA No. -1)
Variant Type:
Point
Domain:
Propeptide
Sequence Context:
GGC > CGC
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.190T>C
p.Phe64Leu (Legacy AA No. 4)
Variant Type:
Point
Domain:
Gla
Sequence Context:
TTC > CTC
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.218T>A
p.Leu73Gln (Legacy AA No. 13)
Variant Type:
Point
Domain:
Gla
Sequence Context:
CTG > CAG
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.226G>A
p.Glu76Lys (Legacy AA No. 16)
Variant Type:
Point
Domain:
Gla
Sequence Context:
GAG > AAG
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.235G>C
p.Glu79Gln (Legacy AA No. 19)
Variant Type:
Point
Domain:
Gla
Sequence Context:
GAG > CAG
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.244T>C
p.Cys82Arg (Legacy AA No. 22)
Variant Type:
Point
Domain:
Gla
Sequence Context:
CGC > TGC
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
6
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

  c.245G>T
p.Cys82Phe (Legacy AA No. 22)
Variant Type:
Point
Domain:
Gla
Sequence Context:
TGC > TTC
Variant Effect:
Missense
Location:
Exon (3)
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

  c.245G>A
p.Cys82Tyr (Legacy AA No. 22)
Variant Type:
Point
Domain:
Gla
Sequence Context:
TAC > TGC
Variant Effect:
Missense
Location:
Exon (3)
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

  c.247T>C
p.Ser83Pro (Legacy AA No. 23)
Variant Type:
Point
Domain:
Gla
Sequence Context:
TCC > CCC
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.250_252delTTC
p.Phe84del (Legacy AA No. 24)
Variant Type:
Deletion
Domain:
Gla
Sequence Context:
del TTC
Variant Effect:
Inframe
Location:
Exon (3)
No of bases:
3
No. of patients reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Inframe) of the variant at Exon 3

Patient Information : Show

  c.253G>A
p.Glu85Lys (Legacy AA No. 25)
Variant Type:
Point
Domain:
Gla
Sequence Context:
GAG > AAG
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

  c.256G>T
p.Glu86* (Legacy AA No. 26)
Variant Type:
Point
Domain:
Gla
Sequence Context:
GAG > TAG
Variant Effect:
Nonsense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 3

Patient Information : Show

  c.262C>G
p.Arg88Gly (Legacy AA No. 28)
Variant Type:
Point
Domain:
Gla
Sequence Context:
CGG > GGG
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

  c.265G>A
p.Glu89Lys (Legacy AA No. 29)
Variant Type:
Point
Domain:
Gla
Sequence Context:
AAG > GAG
Variant Effect:
Missense
Location:
Exon (3)
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

  c.291G>C
p.Thr97= (Legacy AA No. 37)
Variant Type:
Point
Domain:
Gla
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Frameshift) of the variant at Exon 3

Patient Information : Show


Factor VII Variant Database
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