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Search Results: 2 unique variants retrieved


Variant No. 140
p.(Cys200Ser) (Legacy AA No. 182)
Variant Type:
Point
Genomic:
15271G>C
Codon Change:
TGT TCT
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Domain:
Apple 3
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 139
p.(Cys200Tyr) (Legacy AA No. 182)
Variant Type:
Point
Genomic:
15271G>A
Codon Change:
TGT TAT
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Domain:
Apple 3
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show