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Search Results: 3 unique variants retrieved


Variant No. 241
p.(Gly368Arg) (Legacy AA No. 350)
Variant Type:
Point
Genomic:
19584G>A
Codon Change:
GGA AGA
Variant Effect:
Missense
Location:
Exon 10
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. 243
p.(Gly368Ala) (Legacy AA No. 350)
Variant Type:
Point
Genomic:
19585G>C
Codon Change:
GGA GCA
Variant Effect:
Missense
Location:
Exon 10
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. 242
p.(Gly368Glu) (Legacy AA No. 350)
Variant Type:
Point
Genomic:
19585G>A
Codon Change:
GGA GAA
Variant Effect:
Missense
Location:
Exon 10
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