Variant (rsID / SNP)

rs1064793494

rs1064793494 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,802,692. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TSC1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:135802692
Cytoband: 9q34.13
HGVS: NM_000368.5(TSC1):c.107-1G>A
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.