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Search Results: 2 unique variants retrieved


Variant No. 168
p.(Val424Phe) (Legacy AA No. 384)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GTC > TTC
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
10
Allele Frequency (MAF):
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 169
p.(Val424Ala) (Legacy AA No. 384)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GTC > GCC
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show