Variant (rsID / SNP)

rs397514862

rs397514862 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,777,994. 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: 9:135777994
Cytoband: 9q34.13
HGVS: NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter)
Allele change: Nonsense_Q746X

Associated conditions / phenotypes

Tuberous sclerosis 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.