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Variant (rsID / SNP)

rs28934872

TSC2

rs28934872 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2. Location: chromosome 16, position 2,120,572. Clinical significance in the table: Pathogenic.

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Reference-table entries

TSC2Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
16:2120572
Cytoband
16p13.3
HGVS
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)
Allele change
Missense_R611Q

Associated conditions / phenotypes

Tuberous sclerosis 2|Lymphangiomyomatosis|Tuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Lymphangiomyomatosis|Tuberous sclerosis 2|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.