COL23A1
collagen type XXIII alpha 1 chain
Summary
COL23A1 is a member of the transmembrane collagens, a subfamily of the nonfibrillar collagens that contain a single pass hydrophobic transmembrane domain (Banyard et al., 2003 [PubMed 12644459]).[supplied by OMIM, Mar 2008]
Known Variants41 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3860774 | 5:177,666,532 | T/C | regulatory region variant | — |
| rs1442946243 | 5:177,669,077 | G/A | — | uncertain significance |
| rs776511487 | 5:177,669,122 | C/T | — | uncertain significance |
| rs897150476 | 5:177,669,344 | T/G | — | uncertain significance |
| rs371729880 | 5:177,672,961 | G/A | — | likely benign |
| rs1269436715 | 5:177,673,436 | C/T | — | uncertain significance |
| rs1165084388 | 5:177,673,447 | T/C | — | uncertain significance |
| rs201344520 | 5:177,673,737 | G/T | — | — |
| rs78984764 | 5:177,674,779 | C/T | — | likely benign |
| rs200475672 | 5:177,674,821 | T/C | — | uncertain significance |
| rs2481816832 | 5:177,676,173 | G/A | — | uncertain significance |
| rs371777604 | 5:177,679,589 | C/T | — | uncertain significance |
| rs372574551 | 5:177,681,982 | C/T | — | uncertain significance |
| rs201638575 | 5:177,683,355 | C/T | — | uncertain significance |
| rs374627586 | 5:177,683,373 | T/C | — | uncertain significance |
| rs2481894449 | 5:177,683,869 | T/G | — | uncertain significance |
| rs754179891 | 5:177,683,922 | G/A | — | uncertain significance |
| rs2481902958 | 5:177,684,553 | G/A | — | uncertain significance |
| rs756964210 | 5:177,686,733 | G/T | — | uncertain significance |
| rs188789807 | 5:177,687,152 | T/C | intron variant | — |
| rs377720156 | 5:177,689,228 | T/C | — | uncertain significance |
| rs371953467 | 5:177,690,250 | C/T | — | uncertain significance |
| rs375249030 | 5:177,690,258 | G/C | — | uncertain significance |
| rs747809230 | 5:177,715,333 | C/G | — | uncertain significance |
| rs1252736112 | 5:177,715,338 | C/T | — | uncertain significance |
| rs111462671 | 5:177,729,086 | T/C | intron variant | — |
| rs371042680 | 5:177,733,905 | C/T | — | uncertain significance |
| rs17081072 | 5:177,747,691 | T/C | — | association |
| rs2910124 | 5:177,808,675 | C/A | — | — |
| rs10070303 | 5:177,840,382 | C/T | intron variant | — |
| rs118078182 | 5:177,922,198 | G/A | intron variant | — |
| rs192618588 | 5:177,967,559 | C/T | intron variant | — |
| rs1359524202 | 5:177,987,701 | C/T | — | uncertain significance |
| rs566955017 | 5:177,987,706 | G/A | — | uncertain significance |
| rs1041657244 | 5:178,016,919 | G/T | — | uncertain significance |
| rs1764183091 | 5:178,016,930 | G/A | — | uncertain significance |
| rs1328110459 | 5:178,016,952 | C/A | — | uncertain significance |
| rs1006360824 | 5:178,016,961 | G/A | — | uncertain significance |
| rs2532344433 | 5:178,016,964 | C/G | — | uncertain significance |
| rs2532344487 | 5:178,016,970 | G/A | — | uncertain significance |
| rs776834450 | 5:178,017,080 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.