Variant (rsID / SNP)
rs62372049
rs62372049 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GHR. Location: chromosome 5, position 42,721,460. Clinical significance in the table: Benign.
Reference-table entries
GHRBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:42721460
- Cytoband
- 5p12
- HGVS
- NM_000163.5(GHR):c.*1934T>C
- Allele change
- Silent
Associated conditions / phenotypes
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.