Variant (rsID / SNP)

rs267606920

rs267606920 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NRAS. Location: chromosome 1, position 115,256,532. 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: 1:115256532
Cytoband: 1p13.2
HGVS: NM_002524.5(NRAS):c.179G>A (p.Gly60Glu)
Allele change: Missense_G60E

Associated conditions / phenotypes

Noonan syndrome 6|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.