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Search Results: 3 unique variants retrieved


Variant No. 329
p.(Leu483Cysfs*2) Legacy AA No. 465
Variant Type:
Deletion
Genomic:
24818del
Domain:
Serine Protease
Codon Change:
Variant Effect:
Frameshift
Location:
Exon (12)
No of bases:
1
No. of cases reported:
5
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. 330
p.(Leu483Ser) Legacy AA No. 465
Variant Type:
Point
Genomic:
24818T>C
Domain:
Serine Protease
Codon Change:
TTG > TCG
Variant Effect:
Missense
Location:
Exon (12)
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

Variant No. 331
p.(Leu483Phefs*2) Legacy AA No. 465
Variant Type:
Deletion
Genomic:
24819del
Domain:
Serine Protease
Codon Change:
Variant Effect:
Frameshift
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 (Deletion | Frameshift) of the variant at Exon 12

Individual Case Information : Show