CHRDL1
chordin like 1
Summary
This gene encodes an antagonist of bone morphogenetic protein 4. The encoded protein may play a role in topographic retinotectal projection and in the regulation of retinal angiogenesis in response to hypoxia. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2009]
Known Variants55 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs200366092 | X:109,919,491 | A/G | — | benign |
| rs1237859978 | X:109,919,563 | C/T | — | uncertain significance |
| rs771328892 | X:109,919,566 | C/T | — | uncertain significance |
| rs2148409694 | X:109,924,709 | C/A | — | pathogenic |
| rs144417315 | X:109,924,715 | C/T | — | benign |
| rs2148409748 | X:109,924,743 | G/A | — | pathogenic |
| rs759525550 | X:109,924,823 | G/A | — | uncertain significance |
| rs149028104 | X:109,924,896 | T/C | — | benign |
| rs5943048 | X:109,928,432 | G/A | intron variant | — |
| rs2148418538 | X:109,931,834 | T/A | — | pathogenic |
| rs2148418567 | X:109,931,842 | C/A | — | uncertain significance |
| rs5943053 | X:109,931,856 | T/C | — | benign |
| rs767249917 | X:109,931,869 | T/C | — | uncertain significance |
| rs2523120623 | X:109,931,881 | T/A | — | uncertain significance |
| rs142726669 | X:109,931,901 | G/A | — | benign |
| rs398122851 | X:109,931,938 | — | — | pathogenic |
| rs2148418732 | X:109,931,938 | C/T | — | likely pathogenic |
| rs387906713 | X:109,932,028 | C/A | missense variant | pathogenic |
| rs145162217 | X:109,933,024 | C/T | intron variant | — |
| rs56692788 | X:109,933,231 | C/A | intron variant | — |
| rs59360412 | X:109,933,233 | A/G | — | — |
| rs5943055 | X:109,935,846 | G/C | — | — |
| rs139479571 | X:109,937,371 | A/T | — | benign |
| rs781026512 | X:109,937,418 | T/C | — | uncertain significance |
| rs1454140985 | X:109,937,434 | G/A | — | likely benign |
| rs375845300 | X:109,937,483 | G/A | — | uncertain significance |
| rs387906714 | X:109,937,517 | G/A | stop gained | pathogenic |
| rs1344119134 | X:109,937,536 | G/A | — | likely benign |
| rs12688415 | X:109,937,543 | C/T | — | benign |
| rs5943057 | X:109,939,205 | T/A | — | — |
| rs7060124 | X:109,940,046 | C/G | intron variant | — |
| rs5985546 | X:109,940,577 | T/A | intron variant | — |
| rs138473507 | X:109,943,900 | T/C | — | likely benign |
| rs189640632 | X:109,943,904 | C/T | — | conflicting classifications of pathogenicity |
| rs2523181655 | X:109,943,919 | T/C | — | uncertain significance |
| rs1131691468 | X:109,943,957 | T/C | — | conflicting classifications of pathogenicity |
| rs149956316 | X:109,949,512 | G/A | intron variant | — |
| rs2148463798 | X:109,963,080 | C/T | — | uncertain significance |
| rs751447656 | X:109,963,147 | C/T | — | uncertain significance |
| rs2148465558 | X:109,964,624 | A/C | — | likely pathogenic |
| rs2070950130 | X:109,964,650 | T/C | — | uncertain significance |
| rs138293229 | X:109,964,745 | G/T | — | likely benign |
| rs587776868 | X:110,002,887 | A/C | — | pathogenic |
| rs775515705 | X:110,002,961 | G/A | — | pathogenic |
| rs2148509595 | X:110,005,922 | C/T | — | pathogenic |
| rs2148509597 | X:110,005,923 | C/G | — | uncertain significance |
| rs190390240 | X:110,005,943 | C/T | — | uncertain significance |
| rs35235895 | X:110,005,956 | C/T | — | likely benign |
| rs2520472984 | X:110,005,985 | T/A | — | pathogenic |
| rs2520473376 | X:110,006,018 | T/C | — | likely benign |
| rs751250304 | X:110,006,025 | T/C | — | likely benign |
| rs2090111362 | X:110,035,315 | C/T | — | pathogenic |
| rs139302424 | X:110,035,365 | C/T | — | benign |
| rs1602437713 | X:110,035,389 | C/A | — | uncertain significance |
| rs147128392 | X:110,035,391 | T/C | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.