Search Results: 3 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
Undefined cDNA (E369G)
p.Glu369Gly (Legacy AA No. 329)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
No. of Patients Reported:
0
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Herrmann et al 2006 c.1105G>A
p.Glu369Lys (Legacy AA No. 329)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
0
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Rath et al 2015 c.1107G>T
p.Glu369Asp (Legacy AA No. 329)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
G>T
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-