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Search Results: 2 unique variants retrieved


Variant No. 180
p.(Arg268Cys) Legacy AA No. 250
Variant Type:
Point
Genomic:
19095C>T
Domain:
Apple 3
Codon Change:
CGC > TGC
Variant Effect:
Missense
Location:
Exon (8)
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. 181
p.(Arg268His) Legacy AA No. 250
Variant Type:
Point
Genomic:
19096G>A
Domain:
Apple 3
Codon Change:
CGC > CAC
Variant Effect:
Missense
Location:
Exon (8)
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