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Search Results: 2 unique variants retrieved


Variant No. 325
p.(Tyr472*) Legacy AA No. 454
Variant Type:
Point
Genomic:
24786T>G
Domain:
Serine Protease
Codon Change:
TAT > TAG
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

Variant No. 324
p.(Tyr472=) Legacy AA No. 454
Variant Type:
Point
Genomic:
24786T>C
Domain:
Serine Protease
Codon Change:
TAT > TAC
Variant Effect:
Silent
Location:
Exon (12)
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Silent) of the variant at Exon 12

Individual Case Information : Show