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Search Results: 1 unique variant retrieved.


Variant No. 365
p.(Ala561Asp) (Legacy AA No. 543)
Variant Type:
Point
Genomic:
26826C>A
Codon Change:
GCC GAC
Variant Effect:
Missense
Location:
Exon 14
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