Variant (rsID / SNP)

rs397515177

rs397515177 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2. Location: chromosome 16, position 2,136,742. Clinical significance in the table: drug response.

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Reference-table entries

TSC2Drug response

Clinical significance (as recorded): drug response
Variant type: single nucleotide variant
Chromosome / position: 16:2136742
Cytoband: 16p13.3
HGVS: NM_000548.5(TSC2):c.4859A>G (p.His1620Arg)
Allele change: Missense_H1554L

Associated conditions / phenotypes

Tuberous sclerosis syndrome|Everolimus response

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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