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Search Results: 1 unique variant retrieved.


Variant No. 8
p.(Val8Phe) (Legacy AA No. -33)
Variant Type:
Point
Domain:
Signal Peptide
Sequence Context:
GTC > TTC
Variant Effect:
Missense
Location:
Exon 1
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show