Variant (rsID / SNP)

rs137854083

rs137854083 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2. Location: chromosome 16, position 2,135,302. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TSC2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 16:2135302
Cytoband: 16p13.3
HGVS: NM_000548.5(TSC2):c.4642del (p.Leu1548fs)

Associated conditions / phenotypes

Tuberous sclerosis 2|Tuberous sclerosis syndrome

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.