Search Results: 2 unique variants retrieved
c.1114dup
p.(Leu372Profs*2) (326)
Variant Type:
Duplication
Domain:
Serine Protease
cDNA number:
1014
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
2
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 (Duplication | Frameshift) of variant at Exon 8.
Individual Case Information :
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c.1115T>C
p.(Leu372Pro) (326)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1115
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 :
Show