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Variant (rsID / SNP)

rs45517284

TSC2

rs45517284 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2. Location: chromosome 16, position 2,129,285. 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
16:2129285
Cytoband
16p13.3
HGVS
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala)
Allele change
Missense_V1004A

Associated conditions / phenotypes

Tuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2|Lymphangiomyomatosis

Public references

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