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Search Results: 4 unique variants retrieved


Variant No. 76
p.(Gly97Arg) Legacy AA No. 79
Variant Type:
Point
Genomic:
12178G>A
Domain:
Apple 1
Codon Change:
GGG > AGG
Variant Effect:
Missense
Location:
Exon (4)
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. 78
p.(Gly97Ala) Legacy AA No. 79
Variant Type:
Point
Genomic:
12179G>C
Domain:
Apple 1
Codon Change:
GGG > GCG
Variant Effect:
Missense
Location:
Exon (4)
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. 77
p.(Gly97Glu) Legacy AA No. 79
Variant Type:
Point
Genomic:
12179G>A
Domain:
Apple 1
Codon Change:
GGG > GAG
Variant Effect:
Missense
Location:
Exon (4)
No of bases:
1
No. of cases reported:
3
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. 80
p.(Gly97=) Legacy AA No. 79
Variant Type:
Point
Genomic:
12180G>A
Domain:
Apple 1
Codon Change:
GGG > GGA
Variant Effect:
Silent
Location:
Exon (4)
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 | Silent) of the variant at Exon 4

Individual Case Information : Show