Data Display Options:
UNIQUE (Without Case Data) :
MULTIPLE (With Case Data) :



REFERENCE SEARCH: click one of the four options above to download or display variants/cases from your chosen publication.


Search Results: 2 unique variants retrieved


Variant No. 308
p.(Leu442Cysfs*8) Legacy AA No. 424
Variant Type:
Deletion
Genomic:
24695del
Domain:
Serine Protease
Codon Change:
Variant Effect:
Frameshift
Location:
Exon (12)
No of bases:
1
No. of cases reported:
11
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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

Individual Case Information : Show

Variant No. 309
p.(Leu442Phe) Legacy AA No. 424
Variant Type:
Point
Genomic:
24696G>C
Domain:
Serine Protease
Codon Change:
TTG > TTC
Variant Effect:
Missense
Location:
Exon (12)
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is structural information available.

Individual Case Information : Show