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Search Results: 2 unique variants retrieved


Variant No. 394
p.(Glu613Lys) Legacy AA No. 595
Variant Type:
Point
Genomic:
27610G>A
Domain:
Serine Protease
Codon Change:
GAG > AAG
Variant Effect:
Missense
Location:
Exon (15)
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. 395
p.(Glu613=) Legacy AA No. 595
Variant Type:
Point
Genomic:
27612G>A
Domain:
Serine Protease
Codon Change:
GAG > GAA
Variant Effect:
Silent
Location:
Exon (15)
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 (Point | Silent) of the variant at Exon 15

Individual Case Information : Show