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Search Results: 1 unique variant retrieved.


Variant No. 18
p.(Ser15Leu) (Legacy AA No. -4)
Variant Type:
Point
Genomic:
6217C>T
Codon Change:
TCA TTA
Variant Effect:
Missense
Location:
Exon 2
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Signal Peptide
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show