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Search Results: 1 unique variant retrieved.


Variant No. 19
p.(Gly18Arg) (Legacy AA No. -1)
Variant Type:
Point
Genomic:
6225G>C
Codon Change:
GGT CGT
Variant Effect:
Missense
Location:
Exon 2
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Domain:
Signal Peptide
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show