Search Results: 6 unique variants retrieved
c.172G>C
p.(Gly58Arg) (12)
Variant Type:
Point
Domain:
Gla
cDNA number:
172
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.172G>A
p.(Gly58Arg) (12)
Variant Type:
Point
Domain:
Gla
cDNA number:
172
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of cases reported:
3
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.173G>C
p.(Gly58Ala) (12)
Variant Type:
Point
Domain:
Gla
cDNA number:
173
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of cases reported:
3
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.173G>A
p.(Gly58Glu) (12)
Variant Type:
Point
Domain:
Gla
cDNA number:
173
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of cases reported:
7
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.173G>T
p.(Gly58Val) (12)
Variant Type:
Point
Domain:
Gla
cDNA number:
173
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.174delG
p.(Gly58Glyfs*46) (12)
Variant Type:
Deletion
Domain:
Gla
cDNA number:
174
Variant Effect:
Frameshift
Location:
Exon(2)
CpG:
N
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 (Deletion | Frameshift) of variant at Exon 2.
Individual Case Information :
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