Variant (rsID / SNP)

rs45517398

rs45517398 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2. Location: chromosome 16, position 2,138,130. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TSC2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:2138130
Cytoband: 16p13.3
HGVS: NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro)
Allele change: Missense_L1651P

Associated conditions / phenotypes

Tuberous sclerosis 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.