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Variant (rsID / SNP)

rs1064794132

TSC1

rs1064794132 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC1. Location: chromosome 9, position 135,779,036. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TSC1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
9:135779036
Cytoband
9q34.13
HGVS
NM_000368.5(TSC1):c.2208+2T>A
Allele change
Silent

Associated conditions / phenotypes

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

Public references

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