Variant (rsID / SNP)

rs118203426

rs118203426 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,796,816. 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: 9:135796816
Cytoband: 9q34.13
HGVS: NM_000368.5(TSC1):c.671T>G (p.Met224Arg)
Allele change: Missense_M173R

Associated conditions / phenotypes

Tuberous sclerosis 1|Tuberous sclerosis syndrome

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.