Variant (rsID / SNP)

rs779340088

rs779340088 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,798,853. Clinical significance in the table: Likely benign.

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Reference-table entries

TSC1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:135798853
Cytoband: 9q34.13
HGVS: NM_000368.5(TSC1):c.389C>T (p.Thr130Ile)
Allele change: Synonymous_T79T/Synonymous_T79T

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.