Data Export Options:
Search Results: 2 unique variants retrieved
p.Trp416Glyfs*3 (Legacy AA No. 356)
Variant Type:
Deletion
Domain:
Serine Protease
Sequence Context:
delT
Variant Effect:
Frameshift
Location:
Exon (9)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of the variant at Exon 9
Patient Information : Show
p.Trp416* (Legacy AA No. 356)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
TGG > TAG
Variant Effect:
Nonsense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 9