Variant (rsID / SNP)

rs876660723

rs876660723 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,786,054. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TSC1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:135786054
Cytoband: 9q34.13
HGVS: NM_000368.5(TSC1):c.1167A>T (p.Gly389=)
Allele change: Synonymous_G338G

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|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.