Search Results: 4 unique variants retrieved
c.1305_1306delTG
p.(Ala436Asnfs*19) (390)
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1305
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
2
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 8.
Individual Case Information :
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c.1306G>A
p.(Ala436Thr) (390)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1306
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
10
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.1307C>A
p.(Ala436Glu) (390)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1307
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.1307C>T
p.(Ala436Val) (390)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1307
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
13
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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