Search Results: 8 unique variants retrieved
c.1229_1232dup
p.(Ser411Argfs*2) Legacy AA 365
Variant Type:
Duplication
Domain:
Serine Protease
cDNA number:
1229
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
2
No. of bases:
4
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 8.
Individual Case Information :
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c.1230_1231delinsCG
p.(Ser411Gly) Legacy AA 365
Variant Type:
Indel
Domain:
Serine Protease
cDNA number:
1230
Variant Effect:
Inframe
Location:
Exon(8)
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 (Indel | Inframe) of variant at Exon 8.
Individual Case Information :
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c.1231A>G
p.(Ser411Gly) Legacy AA 365
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1231
Variant Effect:
Missense
Location:
Exon(8)
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.1232G>A
p.(Ser411Asn) Legacy AA 365
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1232
Variant Effect:
Missense
Location:
Exon(8)
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.1232G>T
p.(Ser411Ile) Legacy AA 365
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1232
Variant Effect:
Missense
Location:
Exon(8)
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.1232_1234delGTGinsTT
p.(Ser411Ilefs*15) Legacy AA 365
Variant Type:
Indel
Domain:
Serine Protease
cDNA number:
1232
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
No. of bases:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Indel | Frameshift) of variant at Exon 8.
Individual Case Information :
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c.1233T>A
p.(Ser411Arg) Legacy AA 365
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1233
Variant Effect:
Missense
Location:
Exon(8)
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.1233T>G
p.(Ser411Arg) Legacy AA 365
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1233
Variant Effect:
Missense
Location:
Exon(8)
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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