Variant (rsID / SNP)

rs137854101

rs137854101 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2. Location: chromosome 16, position 2,106,726. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TSC2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:2106726
Cytoband: 16p13.3
HGVS: NM_000548.5(TSC2):c.730T>C (p.Cys244Arg)
Allele change: Missense_C244R

Associated conditions / phenotypes

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.