Variant (rsID / SNP)

rs121918468

rs121918468 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTPN11. Location: chromosome 12, position 112,926,248. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PTPN11Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:112926248
Cytoband: 12q24.13
HGVS: NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr)
Allele change: Missense_A461T

Associated conditions / phenotypes

LEOPARD syndrome 1|Noonan syndrome with multiple lentigines|RASopathy|Noonan syndrome 1

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.