CNTNAP5
contactin associated protein family member 5
Summary
This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. [provided by RefSeq, Jul 2008]
Known Variants138 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs755238579 | 2:124,783,284 | G/T | — | uncertain significance |
| rs117021222 | 2:124,783,307 | A/C | — | benign |
| rs183142321 | 2:124,799,884 | T/A | intron variant | — |
| rs12987836 | 2:124,950,448 | C/A | — | — |
| rs72838256 | 2:124,964,604 | C/A | intron variant | — |
| rs2467137992 | 2:124,979,387 | G/A | — | uncertain significance |
| rs1170612 | 2:124,983,056 | T/G | — | — |
| rs4848924 | 2:124,991,887 | A/G | — | — |
| rs1367248 | 2:124,998,364 | G/T | intron variant | — |
| rs1215232404 | 2:124,999,780 | C/T | — | uncertain significance |
| rs756084592 | 2:124,999,817 | G/C | — | uncertain significance |
| rs779127795 | 2:124,999,868 | G/A | — | likely benign |
| rs369801109 | 2:124,999,880 | C/T | — | likely benign |
| rs373323066 | 2:124,999,881 | G/A | — | uncertain significance |
| rs200562881 | 2:124,999,934 | C/T | — | likely benign |
| rs780042 | 2:125,007,836 | T/A | — | — |
| rs115483919 | 2:125,010,267 | C/T | intron variant | — |
| rs62170849 | 2:125,012,926 | T/A | — | — |
| rs192176182 | 2:125,049,495 | T/A | intron variant | — |
| rs375524808 | 2:125,175,049 | C/T | — | benign |
| rs765263584 | 2:125,175,050 | G/A | — | uncertain significance |
| rs760393085 | 2:125,175,096 | G/A | — | uncertain significance |
| rs202245541 | 2:125,192,088 | G/A | — | uncertain significance |
| rs764265618 | 2:125,192,118 | A/G | — | uncertain significance |
| rs1558900596 | 2:125,192,124 | T/A | — | uncertain significance |
| rs367708864 | 2:125,192,149 | C/T | — | likely benign |
| rs751907124 | 2:125,192,167 | G/A | — | uncertain significance |
| rs377138572 | 2:125,192,246 | G/A | — | uncertain significance |
| rs2467543386 | 2:125,192,253 | A/G | — | uncertain significance |
| rs1692484114 | 2:125,192,266 | T/C | — | uncertain significance |
| rs767854611 | 2:125,204,344 | C/T | — | uncertain significance |
| rs185130455 | 2:125,204,348 | T/C | — | likely benign |
| rs375042758 | 2:125,204,489 | C/T | — | uncertain significance |
| rs766098923 | 2:125,204,505 | T/G | — | uncertain significance |
| rs2104833673 | 2:125,232,335 | C/G | — | uncertain significance |
| rs778937313 | 2:125,232,404 | A/G | — | uncertain significance |
| rs755420765 | 2:125,232,430 | A/G | — | uncertain significance |
| rs748391901 | 2:125,232,436 | C/T | — | uncertain significance |
| rs1177880486 | 2:125,232,443 | A/T | — | uncertain significance |
| rs1376353670 | 2:125,232,452 | A/G | — | uncertain significance |
| rs11899928 | 2:125,256,736 | T/C | intron variant | — |
| rs767626503 | 2:125,261,898 | A/G | — | likely benign |
| rs967697335 | 2:125,261,961 | C/G | — | likely benign |
| rs934010795 | 2:125,262,066 | C/G | — | uncertain significance |
| rs762380196 | 2:125,262,112 | C/T | — | uncertain significance |
| rs7584392 | 2:125,281,873 | C/T | — | benign |
| rs375299973 | 2:125,281,884 | C/T | — | likely benign |
| rs17727261 | 2:125,281,910 | C/T | missense variant | benign |
| rs779684862 | 2:125,281,924 | G/A | — | uncertain significance |
| rs746851183 | 2:125,281,927 | A/T | — | uncertain significance |
| rs752392550 | 2:125,281,936 | C/T | — | uncertain significance |
| rs749556691 | 2:125,284,869 | C/T | — | likely benign |
| rs200602463 | 2:125,284,903 | A/G | — | uncertain significance |
| rs375142994 | 2:125,284,960 | C/T | — | uncertain significance |
| rs575603162 | 2:125,284,979 | G/T | — | uncertain significance |
| rs1474915453 | 2:125,284,982 | C/A | — | uncertain significance |
| rs13021885 | 2:125,291,837 | C/T | intron variant | — |
| rs12711680 | 2:125,304,035 | G/C | — | — |
| rs2901331 | 2:125,327,950 | G/A | intron variant | — |
| rs201941082 | 2:125,350,759 | A/C | — | — |
| rs13019539 | 2:125,355,089 | G/T | — | — |
| rs567929192 | 2:125,367,397 | C/T | — | benign |
| rs201240274 | 2:125,367,427 | C/T | — | likely benign |
| rs150248456 | 2:125,383,005 | A/G | intron variant | — |
| rs767095619 | 2:125,405,344 | T/C | — | uncertain significance |
| rs371834823 | 2:125,405,383 | G/C | — | uncertain significance |
| rs771257141 | 2:125,405,397 | A/C | — | uncertain significance |
| rs2467146335 | 2:125,405,409 | C/T | — | uncertain significance |
| rs182009600 | 2:125,405,429 | C/G | — | conflicting classifications of pathogenicity |
| rs536738432 | 2:125,405,433 | G/A | — | uncertain significance |
| rs1281217961 | 2:125,405,479 | A/G | — | uncertain significance |
| rs761421155 | 2:125,405,508 | A/G | — | uncertain significance |
| rs754829696 | 2:125,405,533 | C/T | — | uncertain significance |
| rs12998732 | 2:125,417,164 | G/A | intron variant | — |
| rs141637611 | 2:125,425,037 | C/A | intron variant | — |
| rs6541967 | 2:125,432,123 | T/C | intron variant | — |
| rs192880351 | 2:125,504,806 | A/G | — | likely benign |
| rs769500372 | 2:125,504,853 | C/T | — | uncertain significance |
| rs748754111 | 2:125,504,854 | C/G | — | uncertain significance |
| rs1680624141 | 2:125,504,866 | G/T | — | uncertain significance |
| rs774075892 | 2:125,504,871 | C/T | — | uncertain significance |
| rs35085748 | 2:125,504,881 | T/C | — | benign |
| rs111385792 | 2:125,504,972 | A/C | — | benign |
| rs1259232175 | 2:125,521,251 | C/A | — | uncertain significance |
| rs1265414749 | 2:125,521,266 | T/C | — | uncertain significance |
| rs1383448839 | 2:125,521,294 | C/G | — | likely benign |
| rs770015217 | 2:125,521,340 | G/T | — | uncertain significance |
| rs1003409626 | 2:125,521,678 | C/T | — | likely benign |
| rs752220643 | 2:125,521,706 | A/G | — | uncertain significance |
| rs545702570 | 2:125,521,727 | A/G | — | likely benign |
| rs1681232232 | 2:125,530,378 | C/T | — | uncertain significance |
| rs759172003 | 2:125,530,391 | C/G | — | uncertain significance |
| rs2467363418 | 2:125,530,438 | T/A | — | uncertain significance |
| rs780452798 | 2:125,530,461 | C/T | — | likely benign |
| rs370500806 | 2:125,530,544 | C/T | — | uncertain significance |
| rs200130697 | 2:125,547,484 | A/G | — | uncertain significance |
| rs370802996 | 2:125,547,516 | C/T | — | likely benign |
| rs1681688462 | 2:125,547,570 | G/T | — | uncertain significance |
| rs541671672 | 2:125,547,589 | C/T | — | likely benign |
| rs200361177 | 2:125,547,599 | C/T | — | uncertain significance |
Showing 100 of 138 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.