Search Results: 1 unique variants retrieved.
c.1040A>T
p.(Lys347Ile) (301)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1040
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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