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Search Results: 3 unique variants retrieved


Variant No. 266
p.(Pro400Thr) (Legacy AA No. 382)
Variant Type:
Point
Genomic:
23191C>A
Codon Change:
CCG ACG
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Serine Protease
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 267
p.(Pro400Leu) (Legacy AA No. 382)
Variant Type:
Point
Genomic:
23192C>T
Codon Change:
CCG CTG
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Domain:
Serine Protease
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 268
p.(Pro400=) (Legacy AA No. 382)
Variant Type:
Point
Genomic:
23193G>A
Codon Change:
CCG CCA
Variant Effect:
Silent
Location:
Exon 11
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Serine Protease
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show