Variant (rsID / SNP)

rs397514919

rs397514919 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2. Location: chromosome 16, position 2,129,327. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

TSC2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:2129327
Cytoband: 16p13.3
HGVS: NM_000548.5(TSC2):c.3182T>C (p.Leu1061Pro)
Allele change: Missense_L1018P

Associated conditions / phenotypes

Tuberous sclerosis syndrome|Hereditary cancer-predisposing 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.