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Variant (rsID / SNP)

rs118203720

TSC1

rs118203720 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,772,977. 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
9:135772977
Cytoband
9q34.13
HGVS
NM_000368.5(TSC1):c.2646C>T (p.Ala882=)
Allele change
Synonymous_A831A

Associated conditions / phenotypes

Tuberous sclerosis syndrome|Malignant tumor of urinary bladder|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 1|Isolated focal cortical dysplasia type II

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.