Variant (rsID / SNP)

rs267606921

rs267606921 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NRAS. Location: chromosome 1, position 115,256,562. Clinical significance in the table: Pathogenic.

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Reference-table entries

NRASPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:115256562
Cytoband: 1p13.2
HGVS: NM_002524.5(NRAS):c.149C>T (p.Thr50Ile)
Allele change: Missense_T50I

Associated conditions / phenotypes

Noonan syndrome 6|Noonan syndrome|Noonan syndrome 1|RASopathy

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.