Data Display Options:
UNIQUE (Without Case Data) :
MULTIPLE (With Case Data) :



REFERENCE SEARCH: click one of the four options above to download or display variants/cases from your chosen publication.


Search Results: 2 unique variants retrieved


Variant No. 44
p.(Gln47Pro) Legacy AA No. 29
Variant Type:
Point
Genomic:
10730A>C
Domain:
Apple 1
Codon Change:
CAG > CCG
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of cases reported:
5
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. 45
p.(Gln47His) Legacy AA No. 29
Variant Type:
Point
Genomic:
10731G>C
Domain:
Apple 1
Codon Change:
CAG > CAC
Variant Effect:
Missense
Location:
Exon (3)
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