Variant (rsID / SNP)

rs45482691

rs45482691 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2. Location: chromosome 16, position 2,103,389. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TSC2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:2103389
Cytoband: 16p13.3
HGVS: NM_000548.5(TSC2):c.272C>T (p.Pro91Leu)
Allele change: Missense_P91L

Associated conditions / phenotypes

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

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.