Variant (rsID / SNP)

rs121917757

rs121917757 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HRAS. Location: chromosome 11, position 534,259. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

HRASLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:534259
Cytoband: 11p15.5
HGVS: NM_005343.4(HRAS):c.64C>A (p.Gln22Lys)
Allele change: Missense_Q22K

Associated conditions / phenotypes

Congenital myopathy with excess of muscle spindles|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.