Search Results: 3 unique variants retrieved
c.1270T>C
p.(Phe424Leu) (378)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1270
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
4
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.1270T>G
p.(Phe424Val) (378)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1270
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 :
Show
c.1271T>C
p.(Phe424Ser) (378)
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1271
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
3
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show