Variant (rsID / SNP)

rs45512692

rs45512692 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2, NTHL1. Location: chromosome 16, position 2,098,650. Clinical significance in the table: Pathogenic.

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Reference-table entries

TSC2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:2098650
Cytoband: 16p13.3
HGVS: NM_000548.5(TSC2):c.34A>T (p.Lys12Ter)
Allele change: Nonsense_K12X

Associated conditions / phenotypes

Tuberous sclerosis 2|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.