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Search Results: 2 unique variants retrieved


Variant No. 46
p.(Thr51Pro) Legacy AA No. 33
Variant Type:
Point
Genomic:
10741A>C
Domain:
Apple 1
Codon Change:
ACT > CCT
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of cases reported:
9
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show

Variant No. 47
p.(Thr51Ile) Legacy AA No. 33
Variant Type:
Point
Genomic:
10742C>T
Domain:
Apple 1
Codon Change:
ACT > ATT
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