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Search Results: 1 unique variant retrieved.


Variant No. 95
p.(Met120Thr) (Legacy AA No. 102)
Variant Type:
Point
Genomic:
13186T>C
Codon Change:
ATG ACG
Variant Effect:
Missense
Location:
Exon 5
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Domain:
Apple 2
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show