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Search Results: 2 unique variants retrieved


Variant No. 154
p.(Cys230Arg) Legacy AA No. 212
Variant Type:
Point
Genomic:
15360T>C
Domain:
Apple 3
Codon Change:
TGC > CGC
Variant Effect:
Missense
Location:
Exon (7)
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show

Variant No. 153
p.(Cys230Ser) Legacy AA No. 212
Variant Type:
Point
Genomic:
15360T>A
Domain:
Apple 3
Codon Change:
TGC > AGC
Variant Effect:
Missense
Location:
Exon (7)
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is structural information available.

Individual Case Information : Show