Variant (rsID / SNP)

rs45516293

rs45516293 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2. Location: chromosome 16, position 2,134,966. 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: 16:2134966
Cytoband: 16p13.3
HGVS: NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro)
Allele change: Missense_Q1437P

Associated conditions / phenotypes

Tuberous sclerosis 2|Tuberous sclerosis syndrome|History of neurodevelopmental disorder

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.