Search Results: 3 unique variants retrieved
c.679G>T
p.(Val227Phe) Legacy AA 181
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
679
Variant Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of cases reported:
4
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.680T>C
p.(Val227Ala) Legacy AA 181
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
680
Variant Effect:
Missense
Location:
Exon(6)
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.680T>A
p.(Val227Asp) Legacy AA 181
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
680
Variant Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show