Variant (rsID / SNP)
rs121917756
rs121917756 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HRAS. Location: chromosome 11, position 533,869. Clinical significance in the table: Pathogenic.
Reference-table entries
HRASPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:533869
- Cytoband
- 11p15.5
- HGVS
- NM_005343.4(HRAS):c.187G>A (p.Glu63Lys)
- Allele change
- Missense_E63K
Associated conditions / phenotypes
Congenital myopathy with excess of muscle spindles|Costello syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.