CTH
cystathionine gamma-lyase
Summary
This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine. Mutations in this gene cause cystathioninuria. Alternative splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]
Known Variants63 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs767468686 | 1:70,876,948 | T/C | — | uncertain significance |
| rs17131292 | 1:70,876,959 | A/T | — | likely benign |
| rs757363405 | 1:70,877,096 | A/G | — | uncertain significance |
| rs143859234 | 1:70,877,113 | C/A | — | uncertain significance |
| rs747909709 | 1:70,877,135 | C/A | — | uncertain significance |
| rs1212273786 | 1:70,877,226 | T/C | — | uncertain significance |
| rs61735624 | 1:70,877,227 | G/A | — | likely benign |
| rs28941785 | 1:70,881,670 | C/T | missense variant | pathogenic |
| rs747534332 | 1:70,883,638 | G/C | — | uncertain significance |
| rs1214182106 | 1:70,883,658 | A/G | — | uncertain significance |
| rs2523127027 | 1:70,883,680 | G/A | — | uncertain significance |
| rs186217898 | 1:70,883,722 | G/A | — | conflicting classifications of pathogenicity |
| rs672203 | 1:70,887,099 | A/G | intron variant | — |
| rs886046511 | 1:70,887,283 | A/G | — | uncertain significance |
| rs773089704 | 1:70,887,332 | G/C | — | uncertain significance |
| rs776763826 | 1:70,889,984 | C/T | — | uncertain significance |
| rs375562313 | 1:70,890,006 | G/T | — | uncertain significance |
| rs1228474597 | 1:70,890,011 | T/C | — | likely benign |
| rs748301555 | 1:70,890,052 | G/A | — | uncertain significance |
| rs201568449 | 1:70,895,474 | C/T | — | uncertain significance |
| rs140590694 | 1:70,895,985 | G/C | — | uncertain significance |
| rs763195512 | 1:70,896,026 | G/A | — | uncertain significance |
| rs145785987 | 1:70,896,038 | T/C | — | uncertain significance |
| rs1684437867 | 1:70,896,053 | A/G | — | uncertain significance |
| rs147044875 | 1:70,896,063 | G/T | — | uncertain significance |
| rs28941786 | 1:70,896,071 | C/G | missense variant | pathogenic |
| rs763424314 | 1:70,896,087 | A/G | — | uncertain significance |
| rs201938181 | 1:70,897,789 | A/G | — | uncertain significance |
| rs773107808 | 1:70,897,834 | C/T | stop gained | pathogenic |
| rs200263768 | 1:70,897,835 | G/T | — | uncertain significance |
| rs148057648 | 1:70,897,857 | C/T | — | uncertain significance |
| rs562934681 | 1:70,897,882 | G/A | — | uncertain significance |
| rs368097625 | 1:70,897,905 | G/A | — | conflicting classifications of pathogenicity |
| rs199841412 | 1:70,899,534 | G/A | — | uncertain significance |
| rs767542599 | 1:70,899,628 | T/C | — | uncertain significance |
| rs771762248 | 1:70,900,841 | G/A | — | uncertain significance |
| rs1684664618 | 1:70,904,787 | C/G | — | uncertain significance |
| rs1021737 | 1:70,904,800 | G/T | missense variant | likely benign |
| rs886046512 | 1:70,904,908 | G/A | — | uncertain significance |
| rs567991643 | 1:70,905,027 | G/T | — | uncertain significance |
| rs768499542 | 1:70,905,070 | T/C | — | uncertain significance |
| rs886046513 | 1:70,905,144 | T/A | — | uncertain significance |
| rs1357205916 | 1:70,905,146 | A/G | — | uncertain significance |
| rs868533214 | 1:70,905,180 | C/T | — | uncertain significance |
| rs183166406 | 1:70,905,181 | G/A | — | uncertain significance |
| rs76751106 | 1:70,905,199 | T/C | — | likely benign |
| rs1684675526 | 1:70,905,221 | G/C | — | uncertain significance |
| rs900700647 | 1:70,905,323 | T/A | — | uncertain significance |
| rs374567270 | 1:70,905,332 | T/A | — | uncertain significance |
| rs583316 | 1:70,905,333 | A/T | — | benign |
| rs886046515 | 1:70,905,337 | A/T | — | uncertain significance |
| rs45615634 | 1:70,905,354 | A/G | — | benign |
| rs886046516 | 1:70,905,355 | C/T | — | uncertain significance |
| rs190637978 | 1:70,905,356 | G/A | — | uncertain significance |
| rs886046517 | 1:70,905,397 | G/A | — | uncertain significance |
| rs932421469 | 1:70,905,398 | C/T | — | uncertain significance |
| rs6677781 | 1:70,905,402 | T/C | — | benign |
| rs543839341 | 1:70,905,440 | G/A | — | uncertain significance |
| rs559469669 | 1:70,905,441 | C/T | — | uncertain significance |
| rs565236096 | 1:70,905,442 | G/A | — | uncertain significance |
| rs961613194 | 1:70,905,491 | G/A | — | uncertain significance |
| rs953689275 | 1:70,905,503 | G/T | — | uncertain significance |
| rs584229 | 1:70,905,545 | A/G | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.