Search Results: 5 unique variants retrieved
c.205T>C
p.(Cys69Arg) (23)
Variant Type:
Point
Domain:
Gla
cDNA number:
205
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of cases reported:
5
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.205T>G
p.(Cys69Gly) (23)
Variant Type:
Point
Domain:
Gla
cDNA number:
205
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of cases reported:
2
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.206_207delGT
p.(Cys69*) (23)
Variant Type:
Deletion
Domain:
Gla
cDNA number:
206
Variant Effect:
Frameshift
Location:
Exon(2)
CpG:
No. of cases reported:
1
No. of bases:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Deletion | Frameshift) of variant at Exon 2.
Individual Case Information :
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c.206G>A
p.(Cys69Tyr) (23)
Variant Type:
Point
Domain:
Gla
cDNA number:
206
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of cases reported:
9
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.207T>A
p.(Cys69*) (23)
Variant Type:
Point
Domain:
Gla
cDNA number:
207
Variant Effect:
Nonsense
Location:
Exon(2)
CpG:
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Point | Nonsense) of variant at Exon 2.
Individual Case Information :
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