Search Results: 8 unique variants retrieved
c.81_82dup
p.(Cys28Tyrfs*15) (-19)
Variant Type:
Duplication
Domain:
Pro-Peptide
cDNA number:
81
Variant Effect:
Frameshift
Location:
Exon(1)
CpG:
N
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 (Duplication | Frameshift) of variant at Exon 1.
Individual Case Information :
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c.82T>C
p.(Cys28Arg) (-19)
Variant Type:
Point
Domain:
Signal Peptide
cDNA number:
82
Variant Effect:
Missense
Location:
Exon(1)
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.82T>G
p.(Cys28Gly) (-19)
Variant Type:
Point
Domain:
Signal Peptide
cDNA number:
82
Variant Effect:
Missense
Location:
Exon(1)
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.83delG
p.(Cys28Leufs*14) (-19)
Variant Type:
Deletion
Domain:
Signal Peptide
cDNA number:
83
Variant Effect:
Frameshift
Location:
Exon(1)
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 1.
Individual Case Information :
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c.83G>A
p.(Cys28Tyr) (-19)
Variant Type:
Point
Domain:
Signal Peptide
cDNA number:
83
Variant Effect:
Missense
Location:
Exon(1)
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.84T>A
p.(Cys28*) (-19)
Variant Type:
Point
Domain:
Signal Peptide
cDNA number:
84
Variant Effect:
Nonsense
Location:
Exon(1)
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 (Point | Nonsense) of variant at Exon 1.
Individual Case Information :
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c.84T>G
p.(Cys28Trp) (-19)
Variant Type:
Point
Domain:
Signal Peptide
cDNA number:
84
Variant Effect:
Missense
Location:
Exon(1)
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.85_88+6delACAGGTTTGT
p.(Cys28fs*?) (-19)
Variant Type:
Deletion
Domain:
Signal Peptide
cDNA number:
85
Variant Effect:
Splice
Location:
Exon(1)
CpG:
N
No. of cases reported:
2
No. of bases:
10
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 | Splice) of variant at Exon 1.
Individual Case Information :
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