Search Results: 2 unique variants retrieved
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c.1159C>T
p.Arg387Cys (Legacy AA No. 347)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
C>T
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
2
Allele Number *:
250644
Allele Frequency *:
0.000008
References and Comments:
Herrmann et al 2006; Girolami et al 2018 c.1160G>A
p.Arg387His (Legacy AA No. 347)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
0
Phenotype:
II
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Wang et al 2004; Wang et al 2005; Girolami et al 2018Legacy cDNA numbering in Wang 2004 paper - Leytus et al 1986 (c.1185G>A)