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Search Results: 2 unique variants retrieved


Variant No. 100
p.(Cys136Arg) Legacy AA No. 118
Variant Type:
Point
Genomic:
13233T>C
Domain:
Apple 2
Codon Change:
TGC > CGC
Variant Effect:
Missense
Location:
Exon (5)
No of bases:
1
No. of cases reported:
2
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. 101
p.(Cys136*) Legacy AA No. 118
Variant Type:
Point
Genomic:
13235C>A
Domain:
Apple 2
Codon Change:
TGC > TGA
Variant Effect:
Nonsense
Location:
Exon (5)
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 5

Individual Case Information : Show