Gene entry
GHR
growth hormone receptor
- Chromosome
- 5
- Cytoband
- 5p13.1-p12
- Variants (rsID)
- 48
GHR is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5p13.1-p12). Its official name is “growth hormone receptor”. The reference table lists 48 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs6178Benignsingle nucleotide variant
- rs6183Benignsingle nucleotide variantLaron-type isolated somatotropin defect
- rs62372049Benignsingle nucleotide variantLaron-type isolated somatotropin defect
- rs121909362Conflicting interpretationssingle nucleotide variantShort 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
- rs140501920Conflicting interpretationssingle nucleotide variant
- rs143814221Conflicting interpretationssingle nucleotide variantLaron-type isolated somatotropin defect|7 conditions|Short stature due to partial GHR deficiency
- rs75028043Likely benignsingle nucleotide variantLaron-type isolated somatotropin defect
Other listed variants
- rs6184
- rs2940944
- rs4146624
- rs4365846
- rs4866942
- rs7703713
- rs7712701
- rs13153388
- rs17230998
- rs28943886
- rs28943889
- rs34451235
- rs34853905
- rs34998290
- rs35040971
- rs60866141
- rs61758977
- rs62370608
- rs62371993
- rs73751227
- rs75182061
- rs76325127
- rs77132481
- rs77250624
- rs77865375
- rs77889066
- rs78655949
- rs80048599
- rs114437310
- rs114598592
- rs114837002
- rs115152399
- rs116578266
- rs140483396
- rs140890054
- rs150584105
- rs180778998
- rs181720218
- rs200084031
- rs200503849
- rs201777830
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.