Search Results: 1 unique variants retrieved.
c.749C>T
p.(Ala250Val) (204)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
749
Variant Effect:
Missense
Location:
Exon(7)
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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