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Search Results: 2 unique variants retrieved


Variant No. 155
p.(His232Pro) (Legacy AA No. 214)
Variant Type:
Point
Genomic:
15367A>C
Codon Change:
CAT CCT
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Apple 3
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 156
p.(His232=) (Legacy AA No. 214)
Variant Type:
Point
Genomic:
15368T>C
Codon Change:
CAT CAC
Variant Effect:
Silent
Location:
Exon 7
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Domain:
Apple 3
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show