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Search Results: 2 unique variants retrieved


Variant No. 209
p.(Arg326Cys) (Legacy AA No. 308)
Variant Type:
Point
Genomic:
19370C>T
Codon Change:
CGC TGC
Variant Effect:
Missense
Location:
Exon 9
No of bases:
1
No. of cases reported:
7
Allele Frequency (MAF):
Domain:
Apple 4
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 210
p.(Arg326His) (Legacy AA No. 308)
Variant Type:
Point
Genomic:
19371G>A
Codon Change:
CGC CAC
Variant Effect:
Missense
Location:
Exon 9
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Domain:
Apple 4
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show