LRPAP1
LDL receptor related protein associated protein 1
Summary
This gene encodes a protein that interacts with the low density lipoprotein (LDL) receptor-related protein and facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have been identified in individuals with myopia 23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs149867039 | 4:3,507,386 | C/A | downstream gene variant | — |
| rs148120809 | 4:3,514,696 | T/C | — | likely benign |
| rs764596971 | 4:3,514,706 | G/A | — | uncertain significance |
| rs143841560 | 4:3,514,715 | G/C | — | uncertain significance |
| rs753351085 | 4:3,514,718 | G/A | — | uncertain significance |
| rs143714310 | 4:3,516,501 | C/T | — | likely benign |
| rs372003322 | 4:3,516,543 | C/T | — | likely benign |
| rs778048222 | 4:3,516,544 | G/A | — | uncertain significance |
| rs35919694 | 4:3,516,551 | G/A | — | benign |
| rs398122836 | 4:3,516,626 | — | — | pathogenic |
| rs1729688895 | 4:3,517,846 | G/T | — | likely benign |
| rs1370900803 | 4:3,517,868 | G/A | — | uncertain significance |
| rs763387331 | 4:3,517,872 | G/A | — | likely benign |
| rs754280813 | 4:3,517,874 | T/G | — | uncertain significance |
| rs755497927 | 4:3,517,878 | C/T | — | uncertain significance |
| rs1214003006 | 4:3,517,934 | G/T | — | likely benign |
| rs13325 | 4:3,519,762 | G/A | — | benign |
| rs1026658532 | 4:3,519,784 | T/C | — | uncertain significance |
| rs778899499 | 4:3,519,821 | T/C | — | uncertain significance |
| rs142076491 | 4:3,519,847 | G/A | — | uncertain significance |
| rs533591282 | 4:3,519,848 | T/G | — | uncertain significance |
| rs140204942 | 4:3,519,874 | T/G | — | uncertain significance |
| rs111244551 | 4:3,519,881 | C/T | — | likely benign |
| rs199600966 | 4:3,519,897 | G/A | — | likely benign |
| rs748649483 | 4:3,519,908 | T/C | — | uncertain significance |
| rs35108689 | 4:3,519,917 | T/C | — | benign |
| rs570317237 | 4:3,520,588 | C/T | — | likely benign |
| rs145265768 | 4:3,520,630 | T/C | — | uncertain significance |
| rs149133766 | 4:3,520,638 | G/T | — | uncertain significance |
| rs769408297 | 4:3,520,661 | G/C | — | uncertain significance |
| rs760626933 | 4:3,520,691 | C/T | — | uncertain significance |
| rs143257814 | 4:3,520,692 | G/A | — | benign |
| rs143848774 | 4:3,520,694 | C/G | — | uncertain significance |
| rs745755598 | 4:3,521,885 | C/A | — | uncertain significance |
| rs150108954 | 4:3,521,895 | G/T | — | uncertain significance |
| rs34897511 | 4:3,526,636 | T/C | — | uncertain significance |
| rs559706967 | 4:3,526,640 | G/T | — | uncertain significance |
| rs142669297 | 4:3,526,656 | C/T | — | benign |
| rs747280979 | 4:3,526,661 | C/T | — | uncertain significance |
| rs1205751140 | 4:3,526,697 | G/C | — | uncertain significance |
| rs536479711 | 4:3,526,743 | G/T | — | uncertain significance |
| rs13125213 | 4:3,528,846 | A/G | — | — |
| rs2475233098 | 4:3,533,958 | T/C | — | uncertain significance |
| rs773243225 | 4:3,533,959 | G/A | — | likely pathogenic |
| rs1730279525 | 4:3,533,977 | G/A | — | uncertain significance |
| rs766538982 | 4:3,533,979 | A/T | — | uncertain significance |
| rs377668697 | 4:3,533,993 | C/G | — | uncertain significance |
| rs148017639 | 4:3,534,030 | C/G | — | benign |
| rs139828333 | 4:3,534,059 | G/A | — | benign |
| rs1169601266 | 4:3,534,102 | A/G | — | uncertain significance |
| rs754525703 | 4:3,534,104 | C/A | — | likely benign |
| rs781325942 | 4:3,534,114 | A/C | — | uncertain significance |
| rs764741568 | 4:3,534,122 | G/T | — | likely benign |
| rs563463515 | 4:3,534,129 | C/G | — | uncertain significance |
| rs374848233 | 4:3,534,131 | C/G | — | likely benign |
| rs375417190 | 4:3,534,135 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.