Variant (rsID / SNP)

rs2230917

rs2230917 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RRAS. Location: chromosome 19, position 50,138,995. Clinical significance in the table: Likely benign.

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Reference-table entries

RRASLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:50138995
Cytoband: 19q13.33
HGVS: NM_006270.5(RRAS):c.568G>C (p.Val190Leu)
Allele change: Missense_V190L

Associated conditions / phenotypes

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.