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Search Results: 3 unique variants retrieved


Variant No. 51
p.(Cys56Arg) Legacy AA No. 38
Variant Type:
Point
Genomic:
10756T>C
Domain:
Apple 1
Codon Change:
TGT > CGT
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of cases reported:
52
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is structural information available.

Individual Case Information : Show

Variant No. 52
p.(Cys56*) Legacy AA No. 38
Variant Type:
Point
Genomic:
10758T>A
Domain:
Apple 1
Codon Change:
TGT > TGA
Variant Effect:
Nonsense
Location:
Exon (3)
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 3

Individual Case Information : Show

Variant No. 53
p.(Cys56Trp) Legacy AA No. 38
Variant Type:
Point
Genomic:
10758T>G
Domain:
Apple 1
Codon Change:
TGT > TGG
Variant Effect:
Missense
Location:
Exon (3)
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