Variant (rsID / SNP)

rs45517414

rs45517414 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2, PKD1. Location: chromosome 16, position 2,138,321. 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: 16:2138321
Cytoband: 16p13.3
HGVS: NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter)
Allele change: Nonsense_Q1686X

Associated conditions / phenotypes

Tuberous sclerosis syndrome|History of neurodevelopmental disorder|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.