Variant (rsID / SNP)

rs121917758

rs121917758 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HRAS. Location: chromosome 11, position 533,883. 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: 11:533883
Cytoband: 11p15.5
HGVS: NM_005343.4(HRAS):c.173C>T (p.Thr58Ile)
Allele change: Missense_T58I

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.