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Search Results: 2 unique variants retrieved


Variant No. 237
p.(Leu360Glyfs*17) Legacy AA No. 342
Variant Type:
Insertion
Genomic:
19558_19559insCGGG
Domain:
Apple 4
Codon Change:
Variant Effect:
Frameshift
Location:
Exon (10)
No of bases:
4
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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

Individual Case Information : Show

Variant No. 239
p.(Leu360Pro) Legacy AA No. 342
Variant Type:
Point
Genomic:
19561T>C
Domain:
Apple 4
Codon Change:
CTT > CCT
Variant Effect:
Missense
Location:
Exon (10)
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