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Search Results: 3 unique variants retrieved


Variant No. 12
Legacy AA No. 1
Variant Type:
Deletion
Genomic:
6174
Domain:
Codon Change:
Variant Effect:
Large Deletion
Location:
Exon (1-15)
No of bases:
No. of cases reported:
17
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Large Deletion) of the variant at Exon 1-15

Individual Case Information : Show

Variant No. 21
p.(Glu19*) Legacy AA No. 1
Variant Type:
Point
Genomic:
6228G>T
Domain:
Apple 1
Codon Change:
GAA > TAA
Variant Effect:
Nonsense
Location:
Exon (2)
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 | Nonsense) of the variant at Exon 2

Individual Case Information : Show

Variant No. 20
p.(Glu19Lys) Legacy AA No. 1
Variant Type:
Point
Genomic:
6228G>A
Domain:
Apple 1
Codon Change:
GAA > AAA
Variant Effect:
Missense
Location:
Exon (2)
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