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Search Results: 3 unique variants retrieved


Variant No. 212
p.(Phe330Leufs*19) Legacy AA No. 313
Variant Type:
Deletion
Genomic:
19384del
Domain:
Apple 4
Codon Change:
Variant Effect:
Frameshift
Location:
Exon (9)
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 9

Individual Case Information : Show

Variant No. 213
p.(Thr331Tyrfs*28) Legacy AA No. 313
Variant Type:
Duplication
Genomic:
19384dup
Domain:
Apple 4
Codon Change:
Variant Effect:
Frameshift
Location:
Exon (9)
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 (Duplication | Frameshift) of the variant at Exon 9

Individual Case Information : Show

Variant No. 214
p.(Thr331Ile) Legacy AA No. 313
Variant Type:
Point
Genomic:
19386C>T
Domain:
Apple 4
Codon Change:
ACC > ATC
Variant Effect:
Missense
Location:
Exon (9)
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