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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
Domain:
Apple 2
Codon Change:
ATG > ACG
Variant Effect:
Missense
Location:
Exon (5)
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show