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Search Results: 3 unique variants retrieved


Variant No. 108
p.(Thr150Ala) (Legacy AA No. 132)
Variant Type:
Point
Genomic:
13275A>G
Codon Change:
ACG GCG
Variant Effect:
Missense
Location:
Exon 5
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Apple 2
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 109
p.(Thr150Ilefs*13) (Legacy AA No. 132)
Variant Type:
Deletion
Genomic:
13276_13277del
Codon Change:
Variant Effect:
Frameshift
Location:
Exon 5
No of bases:
2
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Apple 2
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 110
p.(Thr150Met) (Legacy AA No. 132)
Variant Type:
Point
Genomic:
13276C>T
Codon Change:
ACG ATG
Variant Effect:
Missense
Location:
Exon 5
No of bases:
1
No. of cases reported:
7
Allele Frequency (MAF):
Domain:
Apple 2
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show