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Search Results: 2 unique variants retrieved


Variant No. 184
p.(Gly277Ser) (Legacy AA No. 259)
Variant Type:
Point
Genomic:
19122G>A
Codon Change:
GGT AGT
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Apple 3
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 185
p.(Gly277Asp) (Legacy AA No. 259)
Variant Type:
Point
Genomic:
19123G>A
Codon Change:
GGT GAT
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Apple 3
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show