Search Results: 4 unique variants retrieved
c.956T>G
p.(Leu319Arg) Legacy AA 273
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
956
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.956T>A
p.(Leu319Gln) Legacy AA 273
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
956
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.956T>C
p.(Leu319Pro) Legacy AA 273
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
956
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
4
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.956_958delinsAGA
p.(Leu319_Glu320delinsGlnLys) Legacy AA 273
Variant Type:
Indel
Domain:
Serine Protease
cDNA number:
956
Variant Effect:
Inframe
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 | Inframe) of variant at Exon 8.
Individual Case Information :
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