LDHD
lactate dehydrogenase D
Summary
The protein encoded by this gene belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. The similar protein in yeast has both D-lactate and D-glycerate dehydrogenase activities. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
Known Variants47 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs765961139 | 16:75,146,312 | C/T | — | uncertain significance |
| rs372986804 | 16:75,146,357 | T/G | — | uncertain significance |
| rs200319330 | 16:75,146,373 | C/T | — | uncertain significance |
| rs753380371 | 16:75,146,376 | T/C | — | uncertain significance |
| rs764877688 | 16:75,146,390 | G/A | — | likely pathogenic |
| rs758836564 | 16:75,146,418 | G/C | — | uncertain significance |
| rs78008482 | 16:75,146,513 | C/T | — | benign |
| rs61741512 | 16:75,146,529 | C/G | — | benign |
| rs768095187 | 16:75,146,544 | G/A | — | likely benign |
| rs774343849 | 16:75,146,545 | G/A | — | uncertain significance |
| rs761717844 | 16:75,146,546 | C/T | — | uncertain significance |
| rs199512450 | 16:75,146,555 | G/C | — | uncertain significance |
| rs199604636 | 16:75,146,585 | C/T | — | uncertain significance |
| rs747701558 | 16:75,146,600 | C/G | — | uncertain significance |
| rs755392823 | 16:75,146,741 | C/T | — | uncertain significance |
| rs757901065 | 16:75,146,771 | C/T | — | uncertain significance |
| rs777321282 | 16:75,146,774 | C/T | — | uncertain significance |
| rs140580513 | 16:75,146,816 | A/G | — | uncertain significance |
| rs372223577 | 16:75,147,447 | G/A | — | uncertain significance |
| rs1567502487 | 16:75,147,466 | C/A | — | likely pathogenic |
| rs2036459233 | 16:75,147,480 | G/A | — | pathogenic |
| rs774637452 | 16:75,147,501 | G/C | — | uncertain significance |
| rs145679194 | 16:75,147,541 | G/C | — | uncertain significance |
| rs1362948415 | 16:75,147,559 | C/A | — | uncertain significance |
| rs376074065 | 16:75,147,645 | C/T | — | uncertain significance |
| rs142750731 | 16:75,147,646 | G/A | — | uncertain significance |
| rs1025735183 | 16:75,147,881 | A/G | — | uncertain significance |
| rs138539047 | 16:75,147,955 | T/C | — | benign |
| rs773896927 | 16:75,147,981 | G/A | — | uncertain significance |
| rs138498620 | 16:75,148,015 | C/T | — | likely benign |
| rs141944225 | 16:75,148,027 | G/A | — | likely benign |
| rs150668062 | 16:75,148,037 | G/A | — | uncertain significance |
| rs116249169 | 16:75,148,418 | G/A | — | benign |
| rs144025042 | 16:75,148,431 | A/G | — | benign |
| rs1413519564 | 16:75,148,439 | C/A | — | uncertain significance |
| rs766221420 | 16:75,148,467 | C/T | — | uncertain significance |
| rs781721804 | 16:75,148,514 | T/A | — | uncertain significance |
| rs184025651 | 16:75,148,522 | C/G | — | benign |
| rs768305395 | 16:75,148,542 | C/G | — | uncertain significance |
| rs35697608 | 16:75,148,579 | T/C | — | benign |
| rs147378502 | 16:75,148,593 | G/A | — | benign |
| rs767702986 | 16:75,148,745 | C/T | — | uncertain significance |
| rs776526358 | 16:75,148,862 | C/T | — | uncertain significance |
| rs1399915399 | 16:75,149,469 | G/T | — | uncertain significance |
| rs145496919 | 16:75,150,542 | G/A | — | benign |
| rs767531013 | 16:75,150,566 | T/G | — | uncertain significance |
| rs778416073 | 16:75,150,594 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.