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Search Results: 2 unique variants retrieved


Variant No. 91
p.(Cys110Alafs*9) Legacy AA No. 92
Variant Type:
Deletion
Genomic:
13155del
Domain:
Apple 2
Codon Change:
Variant Effect:
Frameshift
Location:
Exon (5)
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 5

Individual Case Information : Show

Variant No. 92
p.(Cys110Gly) Legacy AA No. 92
Variant Type:
Point
Genomic:
13155T>G
Domain:
Apple 2
Codon Change:
TGC > GGC
Variant Effect:
Missense
Location:
Exon (5)
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is structural information available.

Individual Case Information : Show