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Search Results: 2 unique variants retrieved


Variant No. 236
p.(Ile359Tyrfs*13) Legacy AA No. 341
Variant Type:
Deletion
Genomic:
19557del
Domain:
Apple 4
Codon Change:
Variant Effect:
Frameshift
Location:
Exon (10)
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of the variant at Exon 10

Individual Case Information : Show

Variant No. 238
p.(Ile359Met) Legacy AA No. 341
Variant Type:
Point
Genomic:
19559A>G
Domain:
Apple 4
Codon Change:
ATA > ATG
Variant Effect:
Missense
Location:
Exon (10)
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