Search Results: 4 unique variants retrieved
c.1129G>T
p.(Val377Phe) (331)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1129
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.1130T>C
p.(Val377Ala) (331)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1130
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.1130T>A
p.(Val377Asp) (331)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1130
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.1130_1132delTTG
p.(Val377del) (331)
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1130
Variant Effect:
Inframe
Location:
Exon(8)
CpG:
N
No. of cases reported:
6
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 (Deletion | Inframe) of variant at Exon 8.
Individual Case Information :
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