Variant (rsID / SNP)

rs118203553

rs118203553 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,781,317. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TSC1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:135781317
Cytoband: 9q34.13
HGVS: NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu)
Allele change: Missense_Q499E

Associated conditions / phenotypes

Tuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 1|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.