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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
Codon Change:
Variant Effect:
Frameshift
Location:
Exon 10
No of bases:
4
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Apple 4
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 239
p.(Leu360Pro) (Legacy AA No. 342)
Variant Type:
Point
Genomic:
19561T>C
Codon Change:
CTT CCT
Variant Effect:
Missense
Location:
Exon 10
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Domain:
Apple 4
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show