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Search Results: 1 unique variant retrieved.


Variant No. 131
p.(Ala194Val) (Legacy AA No. 176)
Variant Type:
Point
Genomic:
14919C>T
Codon Change:
GCA GTA
Variant Effect:
Missense
Location:
Exon 6
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Apple 2
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show