Data Display Options:
UNIQUE (Without Case Data) :
MULTIPLE (With Case Data) :



REFERENCE SEARCH: click one of the four options above to download or display variants/cases from your chosen publication.


Search Results: 3 unique variants retrieved


Variant No. 137
p.(Glu369Lys) (Legacy AA No. 329)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GAG > AAG
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 138
p.(Glu369Gly) (Legacy AA No. 329)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GAG > GGG
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 139
p.(Glu369Asp) (Legacy AA No. 329)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GAG > GAT
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show