Variant (rsID / SNP)

rs45517222

rs45517222 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSC2. Location: chromosome 16, position 2,122,880. 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: 16:2122880
Cytoband: 16p13.3
HGVS: NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter)
Allele change: Nonsense_R751X

Associated conditions / phenotypes

Tuberous sclerosis syndrome|Tuberous sclerosis 2|Lymphangiomyomatosis|Isolated focal cortical dysplasia type II|Tuberous sclerosis 2

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.