NELL1
neural EGFL like 1
Summary
This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Known Variants88 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1793004 | 11:20,698,929 | C/A | — | — |
| rs2494248930 | 11:20,699,495 | G/A | — | uncertain significance |
| rs748988491 | 11:20,699,546 | A/G | — | uncertain significance |
| rs143880987 | 11:20,699,576 | C/T | — | uncertain significance |
| rs1034336276 | 11:20,699,578 | C/G | — | uncertain significance |
| rs1854104486 | 11:20,699,595 | T/G | — | uncertain significance |
| rs574639040 | 11:20,805,252 | C/T | — | uncertain significance |
| rs145891316 | 11:20,805,285 | C/T | — | uncertain significance |
| rs8176785 | 11:20,805,286 | G/T | missense variant | — |
| rs576614526 | 11:20,805,290 | C/G | — | uncertain significance |
| rs1307291210 | 11:20,869,130 | T/C | — | uncertain significance |
| rs142400850 | 11:20,869,169 | C/T | — | uncertain significance |
| rs751417061 | 11:20,869,170 | G/A | — | uncertain significance |
| rs117839762 | 11:20,869,250 | G/A | — | benign |
| rs184837117 | 11:20,885,708 | C/A | intron variant | — |
| rs1201441915 | 11:20,907,022 | C/T | — | uncertain significance |
| rs550001604 | 11:20,907,027 | C/T | — | uncertain significance |
| rs199882441 | 11:20,907,060 | C/T | — | benign |
| rs144555978 | 11:20,907,061 | G/A | missense variant | — |
| rs756357643 | 11:20,907,065 | C/G | — | uncertain significance |
| rs138109184 | 11:20,907,081 | T/C | — | uncertain significance |
| rs142489784 | 11:20,926,229 | T/A | intron variant | — |
| rs35809043 | 11:20,939,755 | T/G | — | benign |
| rs781698006 | 11:20,939,777 | C/A | — | uncertain significance |
| rs201442561 | 11:20,939,788 | A/G | — | uncertain significance |
| rs372553128 | 11:20,940,791 | T/C | — | likely benign |
| rs2494037221 | 11:20,940,854 | G/A | — | uncertain significance |
| rs146222427 | 11:20,940,863 | G/T | — | uncertain significance |
| rs1472536276 | 11:20,940,872 | A/G | — | uncertain significance |
| rs778495413 | 11:20,940,877 | A/T | — | benign |
| rs774441016 | 11:20,948,920 | A/T | — | uncertain significance |
| rs766019151 | 11:20,948,948 | C/G | — | uncertain significance |
| rs11820003 | 11:20,948,953 | G/A | — | benign |
| rs1277188860 | 11:20,949,929 | G/A | — | uncertain significance |
| rs780264506 | 11:20,949,933 | T/C | — | uncertain significance |
| rs768645143 | 11:20,949,937 | A/C | — | uncertain significance |
| rs749227561 | 11:20,949,951 | C/T | — | uncertain significance |
| rs150066751 | 11:20,949,959 | C/T | — | uncertain significance |
| rs55926004 | 11:20,949,960 | C/T | — | likely benign |
| rs2494062148 | 11:20,949,972 | C/G | — | uncertain significance |
| rs758797597 | 11:20,950,022 | C/G | — | uncertain significance |
| rs16907058 | 11:20,952,237 | G/A | intron variant | — |
| rs79474191 | 11:20,953,407 | C/G | — | — |
| rs1880088 | 11:20,959,185 | A/G | — | — |
| rs1850758008 | 11:20,959,338 | G/A | — | uncertain significance |
| rs778944309 | 11:20,959,344 | A/G | — | uncertain significance |
| rs766370630 | 11:20,959,404 | G/T | — | uncertain significance |
| rs61150458 | 11:20,968,956 | G/C | — | uncertain significance |
| rs200601314 | 11:20,968,969 | C/T | — | conflicting classifications of pathogenicity |
| rs141323787 | 11:20,968,970 | G/A | — | benign |
| rs903980236 | 11:20,982,073 | A/G | — | uncertain significance |
| rs1452010924 | 11:20,982,076 | T/G | — | uncertain significance |
| rs61883261 | 11:20,984,205 | A/T | regulatory region variant | — |
| rs58787811 | 11:20,991,161 | C/A | intron variant | — |
| rs11604153 | 11:21,015,964 | C/T | intron variant | — |
| rs4569005 | 11:21,058,731 | C/T | intron variant | — |
| rs140865111 | 11:21,135,204 | T/C | — | uncertain significance |
| rs76485191 | 11:21,192,233 | G/T | downstream gene variant | — |
| rs114638511 | 11:21,250,898 | G/A | — | benign |
| rs1290022809 | 11:21,250,944 | A/G | — | uncertain significance |
| rs138518021 | 11:21,250,959 | C/T | — | uncertain significance |
| rs2213066 | 11:21,297,475 | T/C | intron variant | — |
| rs8176788 | 11:21,392,425 | G/A | — | benign |
| rs8176792 | 11:21,392,463 | A/G | — | likely benign |
| rs141998941 | 11:21,392,466 | T/A | — | likely benign |
| rs550722472 | 11:21,440,752 | C/T | — | — |
| rs943385136 | 11:21,469,460 | A/G | — | — |
| rs73469144 | 11:21,504,900 | A/C | intron variant | — |
| rs193920875 | 11:21,555,940 | G/T | — | uncertain significance |
| rs144658677 | 11:21,555,945 | C/T | — | likely benign |
| rs147459765 | 11:21,556,011 | C/T | — | likely benign |
| rs2538918540 | 11:21,556,037 | C/T | — | uncertain significance |
| rs12279250 | 11:21,565,079 | T/C | intron variant | — |
| rs35814405 | 11:21,581,763 | C/T | — | benign |
| rs770671664 | 11:21,581,819 | G/A | — | uncertain significance |
| rs377685628 | 11:21,581,843 | G/C | — | uncertain significance |
| rs201134228 | 11:21,581,854 | C/T | — | benign |
| rs149093452 | 11:21,581,861 | G/C | — | uncertain significance |
| rs202048383 | 11:21,592,329 | G/A | — | uncertain significance |
| rs777090665 | 11:21,592,331 | C/T | — | uncertain significance |
| rs146769656 | 11:21,592,382 | G/A | — | uncertain significance |
| rs137896061 | 11:21,594,816 | G/T | — | uncertain significance |
| rs1337141349 | 11:21,594,820 | T/G | — | uncertain significance |
| rs192662372 | 11:21,594,829 | C/A | — | uncertain significance |
| rs140760341 | 11:21,594,896 | C/T | — | uncertain significance |
| rs373272950 | 11:21,594,935 | T/A | — | uncertain significance |
| rs747414049 | 11:21,594,953 | A/G | — | uncertain significance |
| rs201257099 | 11:21,596,539 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.