Search Results: 2 unique variants retrieved
c.1141A>G
p.(Thr381Ala) Legacy AA 335
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1141
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.1142C>T
p.(Thr381Ile) Legacy AA 335
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1142
Variant Effect:
Missense
Location:
Exon(8)
CpG:
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show