Search Results: 2 unique variants retrieved
c.989A>G
p.(Tyr330Cys) (284)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
989
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.990C>A
p.(Tyr330*) (284)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
990
Variant Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of cases reported:
4
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 (Point | Nonsense) of variant at Exon 8.
Individual Case Information :
Show