Variant (rsID / SNP)

rs118203427

rs118203427 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,796,805. Clinical significance in the table: Pathogenic.

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Reference-table entries

TSC1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:135796805
Cytoband: 9q34.13
HGVS: NM_000368.5(TSC1):c.682C>T (p.Arg228Ter)
Allele change: Nonsense_R177X

Associated conditions / phenotypes

Tuberous sclerosis syndrome|Tuberous sclerosis 1|Tuberous sclerosis 1|Lymphangiomyomatosis|Isolated focal cortical dysplasia type II

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.