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Search Results: 2 unique variants retrieved


Variant No. 292
p.(Thr428Aspfs*15) Legacy AA No. 410
Variant Type:
Duplication
Genomic:
23268_23274dup
Domain:
Serine Protease
Codon Change:
Variant Effect:
Frameshift
Location:
Exon (11)
No of bases:
7
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Duplication | Frameshift) of the variant at Exon 11

Individual Case Information : Show

Variant No. 294
p.(Thr428Ile) Legacy AA No. 410
Variant Type:
Point
Genomic:
23276C>T
Domain:
Serine Protease
Codon Change:
ACA > ATA
Variant Effect:
Missense
Location:
Exon (11)
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