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Search Results: 3 unique variants retrieved


Variant No. 70
p.(Cys76Arg) Legacy AA No. 58
Variant Type:
Point
Genomic:
12115T>C
Domain:
Apple 1
Codon Change:
TGT > CGT
Variant Effect:
Missense
Location:
Exon (4)
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show

Variant No. 72
p.(Cys76Phe) Legacy AA No. 58
Variant Type:
Point
Genomic:
12116G>T
Domain:
Apple 1
Codon Change:
TGT > TTT
Variant Effect:
Missense
Location:
Exon (4)
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

Variant No. 71
p.(Cys76Tyr) Legacy AA No. 58
Variant Type:
Point
Genomic:
12116G>A
Domain:
Apple 1
Codon Change:
TGT > TAT
Variant Effect:
Missense
Location:
Exon (4)
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