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Search Results: 1 unique variant retrieved.


Variant No. 18
p.(Ser15Leu) Legacy AA No. -4
Variant Type:
Point
Genomic:
6217C>T
Domain:
Signal Peptide
Codon Change:
TCA > TTA
Variant Effect:
Missense
Location:
Exon (2)
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show