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Variant (rsID / SNP)

rs45484298

TSC2

rs45484298 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2. Location: chromosome 16, position 2,112,558. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TSC2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:2112558
Cytoband
16p13.3
HGVS
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)
Allele change
Missense_G440S

Associated conditions / phenotypes

Tuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Hirschsprung disease, susceptibility to, 1|Tuberous sclerosis 2

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.