Variant (rsID / SNP)

rs45493394

rs45493394 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2. Location: chromosome 16, position 2,112,527. The table records no clinical significance for this variant.

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Reference-table entries

TSC2Not classified

Variant type: single nucleotide variant
Chromosome / position: 16:2112527
Cytoband: 16p13.3
HGVS: NM_000548.5(TSC2):c.1287T>G (p.Tyr429Ter)
Allele change: Nonsense_Y429X

Associated conditions / phenotypes

Tuberous sclerosis syndrome

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.