Search Results: 2 unique variants retrieved
c.1123C>A
p.(Pro375Thr) (329)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1123
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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c.1124C>T
p.(Pro375Leu) (329)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1124
Variant Effect:
Missense
Location:
Exon(8)
CpG:
No. of cases reported:
3
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show