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Search Results: 2 unique variants retrieved


Variant No. 197
p.(Gly303Glu) Legacy AA No. 285
Variant Type:
Point
Genomic:
19302G>A
Domain:
Apple 4
Codon Change:
GGA > GAA
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

Variant No. 196
p.(Gly303Glufs*46) Legacy AA No. 285
Variant Type:
Deletion
Genomic:
19302del
Domain:
Apple 4
Codon Change:
Variant Effect:
Frameshift
Location:
Exon (9)
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 9

Individual Case Information : Show