Variant (rsID / SNP)

rs45472701

rs45472701 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2, PKD1. Location: chromosome 16, position 2,138,237. 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: 16:2138237
Cytoband: 16p13.3
HGVS: NM_000548.5(TSC2):c.5170C>T (p.Gln1724Ter)
Allele change: Nonsense_Q1658X

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.