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Search Results: 2 unique variants retrieved


Variant No. 162
p.(Gln244*) Legacy AA No. 226
Variant Type:
Point
Genomic:
15402C>T
Domain:
Apple 3
Codon Change:
CAG > TAG
Variant Effect:
Nonsense
Location:
Exon (7)
No of bases:
1
No. of cases reported:
9
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. 163
p.(Gln244Arg) Legacy AA No. 226
Variant Type:
Point
Genomic:
15403A>G
Domain:
Apple 3
Codon Change:
CAG > CGG
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