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Variant (rsID / SNP)

rs118203493

TSC1

rs118203493 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,786,451. 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
9:135786451
Cytoband
9q34.13
HGVS
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn)
Allele change
Missense_T309N

Associated conditions / phenotypes

Tuberous sclerosis syndrome|Autism spectrum disorder|Hereditary cancer-predisposing syndrome|Isolated focal cortical dysplasia type II|Tuberous sclerosis 1

Public references

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