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Search Results: 2 unique variants retrieved


Variant No. 104
p.(Asp143Ala) Legacy AA No. 125
Variant Type:
Point
Genomic:
13255A>C
Domain:
Apple 2
Codon Change:
GAC > GCC
Variant Effect:
Missense
Location:
Exon (5)
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. 105
p.(Asp143=) Legacy AA No. 125
Variant Type:
Point
Genomic:
13256C>T
Domain:
Apple 2
Codon Change:
GAC > GAT
Variant Effect:
Silent
Location:
Exon (5)
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 5

Individual Case Information : Show