Variant (rsID / SNP)

rs869025193

rs869025193 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RIT1. Location: chromosome 1, position 155,874,289. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RIT1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:155874289
Cytoband: 1q22
HGVS: NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)
Allele change: Missense_E81G

Associated conditions / phenotypes

Noonan syndrome 8|Noonan syndrome|RASopathy|Inborn genetic diseases|Noonan syndrome and Noonan-related 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.