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Search Results: 2 unique variants retrieved


Variant No. 100
p.(Cys136Arg) (Legacy AA No. 118)
Variant Type:
Point
Genomic:
13233T>C
Codon Change:
TGC CGC
Variant Effect:
Missense
Location:
Exon 5
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Domain:
Apple 2
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 101
p.(Cys136*) (Legacy AA No. 118)
Variant Type:
Point
Genomic:
13235C>A
Codon Change:
TGC TGA
Variant Effect:
Nonsense
Location:
Exon 5
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):
Domain:
Apple 2
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show