Variant (rsID / SNP)

rs104894227

rs104894227 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HRAS. Location: chromosome 11, position 533,553. Clinical significance in the table: Pathogenic.

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Reference-table entries

HRASPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:533553
Cytoband: 11p15.5
HGVS: NM_005343.4(HRAS):c.350A>G (p.Lys117Arg)
Allele change: Missense_K117R

Associated conditions / phenotypes

Costello 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.