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Variant (rsID / SNP)

rs139753238

TSC2

rs139753238 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2. Location: chromosome 16, position 2,129,052. 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
16:2129052
Cytoband
16p13.3
HGVS
NM_000548.5(TSC2):c.2986A>G (p.Thr996Ala)
Allele change
Missense_T953A

Associated conditions / phenotypes

Tuberous sclerosis 2|Hereditary cancer-predisposing syndrome

Public references

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