Variant (rsID / SNP)

rs201452238

rs201452238 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,786,043. Clinical significance in the table: Likely benign.

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Reference-table entries

TSC1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:135786043
Cytoband: 9q34.13
HGVS: NM_000368.5(TSC1):c.1178C>T (p.Thr393Ile)
Allele change: Missense_T342I

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Tuberous sclerosis 1

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.