Variant (rsID / SNP)

rs1060503224

rs1060503224 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,777,991. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

TSC1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:135777991
Cytoband: 9q34.13
HGVS: NM_000368.5(TSC1):c.2391+1G>C
Allele change: Silent

Associated conditions / phenotypes

Tuberous sclerosis 1

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.