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Search Results: 2 unique variants retrieved


Variant No. 316
p.(Ile454Lys) Legacy AA No. 436
Variant Type:
Point
Genomic:
24731T>A
Domain:
Serine Protease
Codon Change:
ATA > AAA
Variant Effect:
Missense
Location:
Exon (12)
No of bases:
1
No. of cases reported:
7
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show

Variant No. 317
p.(Ile454Thr) Legacy AA No. 436
Variant Type:
Point
Genomic:
24731T>C
Domain:
Serine Protease
Codon Change:
ATA > ACA
Variant Effect:
Missense
Location:
Exon (12)
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is structural information available.

Individual Case Information : Show