GHR
growth hormone receptor
Summary
This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]
Known Variants448 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1314535276 | 5:42,423,893 | A/G | — | uncertain significance |
| rs2940928 | 5:42,423,905 | A/G | — | benign |
| rs368929640 | 5:42,423,919 | C/A | — | likely benign |
| rs1050201240 | 5:42,423,951 | C/T | — | uncertain significance |
| rs1033209852 | 5:42,423,980 | G/T | — | uncertain significance |
| rs1742723526 | 5:42,423,993 | C/T | — | uncertain significance |
| rs892049573 | 5:42,423,995 | C/T | — | uncertain significance |
| rs527709793 | 5:42,424,030 | G/C | — | benign |
| rs1742761582 | 5:42,424,700 | G/A | — | uncertain significance |
| rs116297749 | 5:42,424,703 | A/T | — | benign |
| rs13188386 | 5:42,473,555 | G/A | upstream gene variant | — |
| rs2940944 | 5:42,489,142 | A/G | — | — |
| rs13153388 | 5:42,507,333 | T/G | intron variant | — |
| rs62370646 | 5:42,515,027 | A/G | — | — |
| rs71590629 | 5:42,534,306 | A/G | intron variant | — |
| rs550331863 | 5:42,534,338 | G/A | — | — |
| rs12521020 | 5:42,565,843 | C/T | — | benign |
| rs543620503 | 5:42,565,965 | G/C | — | uncertain significance |
| rs201804261 | 5:42,565,967 | T/C | — | uncertain significance |
| rs371646052 | 5:42,565,971 | A/G | — | uncertain significance |
| rs752025877 | 5:42,565,977 | A/G | — | pathogenic |
| rs1247837271 | 5:42,565,985 | C/T | — | likely benign |
| rs34838342 | 5:42,565,986 | T/C | missense variant | uncertain significance |
| rs2478311889 | 5:42,565,987 | G/A | — | pathogenic |
| rs1554020272 | 5:42,565,988 | G/C | — | uncertain significance |
| rs1233232856 | 5:42,565,994 | G/T | — | likely benign |
| rs756572945 | 5:42,565,997 | G/A | — | likely benign |
| rs528933970 | 5:42,566,001 | A/G | — | uncertain significance |
| rs1749901140 | 5:42,566,009 | A/C | — | likely benign |
| rs1437977068 | 5:42,566,010 | C/T | — | likely benign |
| rs372245866 | 5:42,566,016 | G/A | — | uncertain significance |
| rs547124461 | 5:42,566,022 | A/C | — | uncertain significance |
| rs1749903679 | 5:42,566,028 | G/A | — | uncertain significance |
| rs1397295577 | 5:42,566,032 | T/C | — | uncertain significance |
| rs769835036 | 5:42,566,037 | G/A | — | likely benign |
| rs2478312560 | 5:42,566,039 | A/C | — | likely benign |
| rs775749224 | 5:42,566,044 | A/G | — | uncertain significance |
| rs1370477353 | 5:42,566,047 | G/T | — | pathogenic |
| rs2112477601 | 5:42,566,051 | G/A | — | likely pathogenic |
| rs1749906474 | 5:42,566,065 | T/G | — | likely benign |
| rs10941579 | 5:42,566,166 | A/T | — | benign |
| rs4489074 | 5:42,579,006 | C/T | intron variant | — |
| rs13163126 | 5:42,597,479 | T/C | intron variant | — |
| rs78990680 | 5:42,599,416 | G/A | intron variant | — |
| rs6898743 | 5:42,602,492 | C/G | intron variant | — |
| rs78095808 | 5:42,607,398 | C/T | intron variant | — |
| rs4590183 | 5:42,626,206 | T/C | intron variant | — |
| rs143287692 | 5:42,629,151 | A/G | — | conflicting classifications of pathogenicity |
| rs377297987 | 5:42,629,167 | C/G | — | uncertain significance |
| rs76183160 | 5:42,629,168 | C/G | — | conflicting classifications of pathogenicity |
| rs121909370 | 5:42,629,171 | G/A | stop gained | pathogenic |
| rs1167022629 | 5:42,629,201 | G/T | — | uncertain significance |
| rs6873545 | 5:42,631,264 | T/C | intron variant | — |
| rs546991067 | 5:42,632,065 | C/T | — | — |
| rs73087475 | 5:42,641,066 | T/C | intron variant | — |
| rs73751227 | 5:42,641,284 | G/T | — | — |
| rs149465584 | 5:42,651,980 | A/G | intron variant | — |
| rs4612114 | 5:42,660,101 | C/A | intron variant | — |
| rs4315928 | 5:42,686,936 | C/G | — | — |
| rs149475648 | 5:42,688,957 | G/C | — | benign |
| rs1757286586 | 5:42,688,988 | G/A | — | likely benign |
| rs1401911314 | 5:42,688,992 | A/T | — | uncertain significance |
| rs777008477 | 5:42,688,995 | C/G | — | likely benign |
| rs1324885404 | 5:42,688,996 | T/C | — | likely benign |
| rs1361822427 | 5:42,689,006 | C/A | — | uncertain significance |
| rs121909359 | 5:42,689,023 | C/A | stop gained | pathogenic |
| rs200503849 | 5:42,689,024 | C/T | — | uncertain significance |
| rs373412197 | 5:42,689,025 | G/A | — | uncertain significance |
| rs121909358 | 5:42,689,036 | C/T | stop gained | pathogenic |
| rs747723725 | 5:42,689,037 | G/A | — | uncertain significance |
| rs1240178851 | 5:42,689,038 | A/T | — | likely benign |
| rs121909361 | 5:42,689,039 | G/A | missense variant | pathogenic |
| rs2111657575 | 5:42,689,044 | T/C | — | likely benign |
| rs140501920 | 5:42,689,050 | A/G | — | conflicting classifications of pathogenicity |
| rs2530643245 | 5:42,689,053 | C/T | — | likely benign |
| rs2530643299 | 5:42,689,058 | G/A | — | pathogenic |
| rs75028043 | 5:42,689,061 | C/T | — | conflicting classifications of pathogenicity |
| rs1757291787 | 5:42,689,062 | A/G | — | likely benign |
| rs1414009547 | 5:42,689,068 | G/A | — | likely benign |
| rs781454088 | 5:42,689,069 | G/A | — | uncertain significance |
| rs114025919 | 5:42,689,094 | G/T | — | conflicting classifications of pathogenicity |
| rs2530643666 | 5:42,689,110 | C/T | — | likely benign |
| rs2530643748 | 5:42,689,119 | A/G | — | uncertain significance |
| rs1009412984 | 5:42,689,122 | G/A | — | pathogenic |
| rs1358694610 | 5:42,689,128 | C/A | — | likely benign |
| rs1222335700 | 5:42,689,130 | A/G | — | likely benign |
| rs1487879889 | 5:42,689,136 | C/A | — | likely benign |
| rs1217073018 | 5:42,689,138 | T/C | — | likely benign |
| rs1405926633 | 5:42,689,204 | G/T | — | pathogenic |
| rs10038285 | 5:42,689,540 | A/G | — | benign |
| rs192891964 | 5:42,695,002 | T/G | — | benign |
| rs1354710782 | 5:42,695,008 | C/T | — | likely benign |
| rs553472651 | 5:42,695,010 | T/C | — | likely benign |
| rs201917287 | 5:42,695,016 | T/C | — | conflicting classifications of pathogenicity |
| rs1757597156 | 5:42,695,017 | A/G | — | pathogenic |
| rs138491809 | 5:42,695,025 | T/A | — | conflicting classifications of pathogenicity |
| rs1060499692 | 5:42,695,033 | G/A | stop gained | pathogenic |
| rs1313139219 | 5:42,695,040 | A/G | — | likely benign |
| rs2530669240 | 5:42,695,041 | G/A | — | uncertain significance |
| rs121909371 | 5:42,695,055 | C/A | stop gained | pathogenic |
Showing 100 of 448 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.