Variant (rsID / SNP)

rs869025195

rs869025195 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RIT1. Location: chromosome 1, position 155,874,284. 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: 1:155874284
Cytoband: 1q22
HGVS: NM_006912.6(RIT1):c.247A>C (p.Thr83Pro)
Allele change: Missense_T83P

Associated conditions / phenotypes

Noonan syndrome|Inborn genetic diseases|Noonan syndrome 1|RASopathy|Noonan syndrome 8

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.