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Search Results: 3 unique variants retrieved


Variant No. 245
p.(Tyr369Cys) Legacy AA No. 351
Variant Type:
Point
Genomic:
19588A>G
Domain:
Apple 4
Codon Change:
TAC > TGC
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

Variant No. 244
p.(Tyr369Ser) Legacy AA No. 351
Variant Type:
Point
Genomic:
19588A>C
Domain:
Apple 4
Codon Change:
TAC > TCC
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

Variant No. 246
p.(Tyr369*) Legacy AA No. 351
Variant Type:
Point
Genomic:
19589C>A
Domain:
Apple 4
Codon Change:
TAC > TAA
Variant Effect:
Nonsense
Location:
Exon (10)
No of bases:
1
No. of cases reported:
22
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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

Individual Case Information : Show