Variant (rsID / SNP)

rs869025194

rs869025194 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RIT1. Location: chromosome 1, position 155,874,287. Clinical significance in the table: Pathogenic.

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Reference-table entries

RIT1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:155874287
Cytoband: 1q22
HGVS: NM_006912.6(RIT1):c.244T>G (p.Phe82Val)
Allele change: Missense_F82V

Associated conditions / phenotypes

Noonan syndrome 8|Noonan syndrome|RASopathy|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.