Variant (rsID / SNP)
rs143814221
rs143814221 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GHR. Location: chromosome 5, position 42,711,408. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
GHRConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:42711408
- Cytoband
- 5p12
- HGVS
- NM_000163.5(GHR):c.718T>C (p.Tyr240His)
- Allele change
- Missense_Y240H
Associated conditions / phenotypes
Laron-type isolated somatotropin defect|7 conditions|Short stature due to partial GHR deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.