Variant (rsID / SNP)

rs45517407

rs45517407 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2, PKD1. Location: chromosome 16, position 2,138,228. The table records no clinical significance for this variant.

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Reference-table entries

TSC2Not classified

Variant type: single nucleotide variant
Chromosome / position: 16:2138228
Cytoband: 16p13.3
HGVS: NM_000548.5(TSC2):c.5161A>C (p.Met1721Leu)
Allele change: Missense_M1655L

Associated conditions / phenotypes

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.