Variant (rsID / SNP)

rs374061873

rs374061873 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NRAS. Location: chromosome 1, position 115,251,173. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NRASConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:115251173
Cytoband: 1p13.2
HGVS: NM_002524.5(NRAS):c.553C>T (p.Pro185Ser)
Allele change: Missense_P185S

Associated conditions / phenotypes

Noonan syndrome 6|RASopathy|Noonan 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.