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Search Results: 2 unique variants retrieved


Variant No. 354
p.(Asp526Glnfs*27) Legacy AA No. 508
Variant Type:
Deletion
Genomic:
26720_26721delGA
Domain:
Serine Protease
Codon Change:
Variant Effect:
Frameshift
Location:
Exon (13)
No of bases:
2
No. of cases 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 13

Individual Case Information : Show

Variant No. 355
p.(Asp526Glu) Legacy AA No. 508
Variant Type:
Point
Genomic:
26722C>G
Domain:
Serine Protease
Codon Change:
GAC > GAG
Variant Effect:
Missense
Location:
Exon (14)
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is structural information available.

Individual Case Information : Show