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Search Results: 3 unique variants retrieved


Variant No. 212
p.(Phe330Leufs*19) (Legacy AA No. 313)
Variant Type:
Deletion
Genomic:
19384del
Codon Change:
Variant Effect:
Frameshift
Location:
Exon 9
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Apple 4
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 213
p.(Thr331Tyrfs*28) (Legacy AA No. 313)
Variant Type:
Duplication
Genomic:
19384dup
Codon Change:
Variant Effect:
Frameshift
Location:
Exon 9
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Apple 4
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 214
p.(Thr331Ile) (Legacy AA No. 313)
Variant Type:
Point
Genomic:
19386C>T
Codon Change:
ACC ATC
Variant Effect:
Missense
Location:
Exon 9
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Apple 4
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show