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Search Results: 2 unique variants retrieved


Variant No. 154
p.(Cys230Arg) (Legacy AA No. 212)
Variant Type:
Point
Genomic:
15360T>C
Codon Change:
TGC CGC
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):
Domain:
Apple 3
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 153
p.(Cys230Ser) (Legacy AA No. 212)
Variant Type:
Point
Genomic:
15360T>A
Codon Change:
TGC AGC
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):
Domain:
Apple 3
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show