Variant (rsID / SNP)
rs121909362
rs121909362 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GHR. Location: chromosome 5, position 42,700,021. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:42700021
- Cytoband
- 5p12
- HGVS
- NM_000163.5(GHR):c.535C>T (p.Arg179Cys)
- Allele change
- Missense_R179C
Associated conditions / phenotypes
Short stature due to partial GHR deficiency|Short stature due to partial GHR deficiency|Laron-type isolated somatotropin defect|Short stature due to partial GHR deficiency|Short stature due to growth hormone secretagogue receptor deficiency|Hypercholesterolemia, familial, 1|Laron-type isolated somatotropin defect|Laron-type isolated somatotropin defect
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.