Variant (rsID / SNP)

rs118203403

rs118203403 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,797,297. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TSC1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:135797297
Cytoband: 9q34.13
HGVS: NM_000368.5(TSC1):c.572T>A (p.Leu191His)
Allele change: Missense_L140P

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.