Search Results: 3 unique variants retrieved
c.730_731delTT
p.(Leu244Glufs*3) Legacy AA 198
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
730
Variant Effect:
Frameshift
Location:
Exon(7)
CpG:
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 (Deletion | Frameshift) of variant at Exon 7.
Individual Case Information :
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c.731T>C
p.(Leu244Ser) Legacy AA 198
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
731
Variant Effect:
Missense
Location:
Exon(7)
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.731T>G
p.(Leu244Trp) Legacy AA 198
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
731
Variant Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show