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Search Results: 2 unique variants retrieved


Variant No. 151
p.(Arg228*) Legacy AA No. 210
Variant Type:
Point
Genomic:
15354C>T
Domain:
Apple 3
Codon Change:
CGA > TGA
Variant Effect:
Nonsense
Location:
Exon (7)
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 7

Individual Case Information : Show

Variant No. 152
p.(Arg228Gln) Legacy AA No. 210
Variant Type:
Point
Genomic:
15355G>A
Domain:
Apple 3
Codon Change:
CGA > CAA
Variant Effect:
Missense
Location:
Exon (7)
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is structural information available.

Individual Case Information : Show