Variant (rsID / SNP)
rs369106578
rs369106578 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HRAS. Location: chromosome 11, position 533,536. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
HRASConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:533536
- Cytoband
- 11p15.5
- HGVS
- NM_005343.4(HRAS):c.367C>T (p.Arg123Cys)
- Allele change
- Missense_R123C
Associated conditions / phenotypes
Costello syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
