NDRG1
N-myc downstream regulated 1
Summary
This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein involved in stress responses, hormone responses, cell growth, and differentiation. The encoded protein is necessary for p53-mediated caspase activation and apoptosis. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4D, and expression of this gene may be a prognostic indicator for several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
Known Variants683 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs781277187 | 8:134,249,415 | C/T | — | uncertain significance |
| rs7825439 | 8:134,249,499 | A/C | — | likely benign |
| rs1465673240 | 8:134,249,500 | G/A | — | uncertain significance |
| rs187466317 | 8:134,249,648 | C/T | — | likely benign |
| rs887335765 | 8:134,249,760 | G/T | — | uncertain significance |
| rs12668 | 8:134,249,781 | C/T | — | uncertain significance |
| rs539924589 | 8:134,249,782 | G/A | — | uncertain significance |
| rs557737109 | 8:134,249,821 | C/G | — | uncertain significance |
| rs926267815 | 8:134,249,822 | G/A | — | uncertain significance |
| rs886062711 | 8:134,249,825 | G/A | — | uncertain significance |
| rs144034977 | 8:134,249,827 | A/G | — | benign |
| rs561506934 | 8:134,249,926 | C/A | — | uncertain significance |
| rs1041250053 | 8:134,249,942 | C/G | — | uncertain significance |
| rs10675 | 8:134,249,986 | C/T | — | benign |
| rs1049697 | 8:134,250,165 | A/G | — | benign |
| rs16904865 | 8:134,250,255 | T/A | — | benign |
| rs576857084 | 8:134,250,267 | C/T | — | uncertain significance |
| rs79281324 | 8:134,250,287 | A/T | — | benign |
| rs1174133451 | 8:134,250,330 | G/A | — | uncertain significance |
| rs16904866 | 8:134,250,410 | G/A | — | benign |
| rs1049694 | 8:134,250,430 | T/C | — | benign |
| rs886062712 | 8:134,250,444 | G/A | — | uncertain significance |
| rs147301529 | 8:134,250,468 | A/G | — | likely benign |
| rs886062713 | 8:134,250,503 | A/C | — | uncertain significance |
| rs185153183 | 8:134,250,596 | C/T | — | uncertain significance |
| rs954177065 | 8:134,250,718 | C/T | — | uncertain significance |
| rs551081194 | 8:134,250,719 | G/A | — | uncertain significance |
| rs562723755 | 8:134,250,729 | C/T | — | uncertain significance |
| rs377385607 | 8:134,250,744 | C/T | — | likely benign |
| rs995056665 | 8:134,250,813 | G/A | — | uncertain significance |
| rs886062714 | 8:134,250,815 | G/A | — | uncertain significance |
| rs73711834 | 8:134,250,857 | G/C | — | likely benign |
| rs1489186863 | 8:134,250,893 | C/T | — | uncertain significance |
| rs886062715 | 8:134,250,920 | T/A | — | uncertain significance |
| rs778104868 | 8:134,250,937 | C/T | — | uncertain significance |
| rs2233348 | 8:134,251,021 | C/T | — | benign |
| rs926781207 | 8:134,251,030 | C/T | — | uncertain significance |
| rs114738844 | 8:134,251,052 | G/A | — | likely benign |
| rs1390985905 | 8:134,251,073 | G/T | — | uncertain significance |
| rs573564976 | 8:134,251,090 | A/C | — | uncertain significance |
| rs149804385 | 8:134,251,096 | C/T | — | likely benign |
| rs1008102394 | 8:134,251,103 | G/A | — | likely benign |
| rs200367524 | 8:134,251,119 | G/A | — | conflicting classifications of pathogenicity |
| rs1429388363 | 8:134,251,127 | G/A | — | likely benign |
| rs2130655008 | 8:134,251,130 | G/C | — | likely benign |
| rs1855211711 | 8:134,251,133 | C/T | — | likely benign |
| rs1413072034 | 8:134,251,135 | C/T | — | uncertain significance |
| rs769654928 | 8:134,251,139 | G/A | — | likely benign |
| rs779857124 | 8:134,251,142 | C/T | — | likely benign |
| rs2537994924 | 8:134,251,144 | T/G | — | uncertain significance |
| rs2537994930 | 8:134,251,145 | G/T | — | likely benign |
| rs768918074 | 8:134,251,150 | C/T | — | uncertain significance |
| rs774605205 | 8:134,251,151 | G/A | — | conflicting classifications of pathogenicity |
| rs1276408714 | 8:134,251,153 | C/T | — | uncertain significance |
| rs863224413 | 8:134,251,154 | G/A | — | likely benign |
| rs2130655184 | 8:134,251,155 | C/T | — | uncertain significance |
| rs1855214312 | 8:134,251,156 | T/G | — | uncertain significance |
| rs761869008 | 8:134,251,160 | C/T | — | likely benign |
| rs1428958121 | 8:134,251,162 | C/T | — | uncertain significance |
| rs1184071181 | 8:134,251,166 | A/G | — | likely benign |
| rs1417950013 | 8:134,251,170 | C/T | — | uncertain significance |
| rs750369546 | 8:134,251,172 | C/T | — | likely benign |
| rs373815729 | 8:134,251,173 | G/A | — | uncertain significance |
| rs1263777415 | 8:134,251,174 | A/G | — | uncertain significance |
| rs1433020796 | 8:134,251,181 | G/A | — | likely benign |
| rs2537995230 | 8:134,251,184 | G/C | — | uncertain significance |
| rs2537995260 | 8:134,251,190 | C/A | — | likely benign |
| rs759955688 | 8:134,251,194 | T/A | — | uncertain significance |
| rs367925853 | 8:134,251,197 | G/C | — | uncertain significance |
| rs577399876 | 8:134,251,199 | C/T | — | likely benign |
| rs2537995380 | 8:134,251,201 | C/G | — | uncertain significance |
| rs1345314267 | 8:134,251,204 | C/T | — | uncertain significance |
| rs201959970 | 8:134,251,205 | G/A | — | conflicting classifications of pathogenicity |
| rs1278753145 | 8:134,251,211 | G/A | — | likely benign |
| rs578199680 | 8:134,251,214 | C/T | — | likely benign |
| rs767058269 | 8:134,251,215 | G/A | — | uncertain significance |
| rs1855222014 | 8:134,251,217 | G/A | — | likely benign |
| rs181121989 | 8:134,251,218 | C/T | — | uncertain significance |
| rs530143616 | 8:134,251,219 | G/A | — | uncertain significance |
| rs1189614460 | 8:134,251,220 | G/A | — | likely benign |
| rs749124058 | 8:134,251,221 | C/T | — | uncertain significance |
| rs541812355 | 8:134,251,223 | G/T | — | likely benign |
| rs754767167 | 8:134,251,224 | C/T | — | uncertain significance |
| rs779065972 | 8:134,251,225 | G/A | — | uncertain significance |
| rs1426107612 | 8:134,251,226 | G/A | — | likely benign |
| rs144379016 | 8:134,251,230 | C/T | — | uncertain significance |
| rs2130655766 | 8:134,251,234 | C/T | — | uncertain significance |
| rs772115691 | 8:134,251,235 | G/A | — | likely benign |
| rs1290016868 | 8:134,251,236 | C/G | — | uncertain significance |
| rs2537995664 | 8:134,251,237 | T/C | — | uncertain significance |
| rs111835070 | 8:134,251,240 | T/C | — | uncertain significance |
| rs1855226391 | 8:134,251,242 | T/G | — | uncertain significance |
| rs560162089 | 8:134,251,244 | G/C | — | likely benign |
| rs527561085 | 8:134,251,247 | G/A | — | likely benign |
| rs771613983 | 8:134,251,248 | C/T | — | uncertain significance |
| rs777244818 | 8:134,251,249 | G/A | — | uncertain significance |
| rs370153201 | 8:134,251,253 | T/G | — | likely benign |
| rs1282857383 | 8:134,251,254 | C/T | — | uncertain significance |
| rs765621411 | 8:134,251,255 | G/A | — | uncertain significance |
| rs2537995823 | 8:134,251,256 | G/A | — | likely benign |
Showing 100 of 683 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.