Variant (rsID / SNP)

rs367553206

rs367553206 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2. Location: chromosome 16, position 2,120,546. 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: 16:2120546
Cytoband: 16p13.3
HGVS: NM_000548.5(TSC2):c.1806C>G (p.Tyr602Ter)
Allele change: Synonymous_Y602Y

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.