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Search Results: 3 unique variants retrieved


Variant No. 12
(Legacy AA No. 1)
Variant Type:
Deletion
Genomic:
6174
Codon Change:
Variant Effect:
Large Deletion
Location:
Exon 1-15
No of bases:
No. of cases reported:
17
Allele Frequency (MAF):
Domain:
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 21
p.(Glu19*) (Legacy AA No. 1)
Variant Type:
Point
Genomic:
6228G>T
Codon Change:
GAA TAA
Variant Effect:
Nonsense
Location:
Exon 2
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Apple 1
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 20
p.(Glu19Lys) (Legacy AA No. 1)
Variant Type:
Point
Genomic:
6228G>A
Codon Change:
GAA AAA
Variant Effect:
Missense
Location:
Exon 2
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Apple 1
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show