AMMECR1
AMMECR nuclear protein 1
Summary
The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs180715560 | X:109,441,745 | G/T | — | uncertain significance |
| rs140247782 | X:109,441,790 | A/G | — | benign |
| rs765118261 | X:109,441,793 | T/C | — | likely benign |
| rs145206893 | X:109,441,819 | C/T | — | uncertain significance |
| rs2522490522 | X:109,441,852 | C/A | — | uncertain significance |
| rs7879171 | X:109,444,138 | C/A | — | benign |
| rs7879645 | X:109,444,139 | A/T | — | benign |
| rs2522493719 | X:109,444,180 | A/T | — | likely pathogenic |
| rs1160009207 | X:109,444,208 | T/C | — | likely benign |
| rs146457392 | X:109,444,247 | T/C | — | likely benign |
| rs750022919 | X:109,444,264 | G/A | — | pathogenic |
| rs2148162285 | X:109,444,270 | G/A | — | uncertain significance |
| rs2148162290 | X:109,444,275 | C/T | — | likely pathogenic |
| rs2148162295 | X:109,444,278 | C/A | — | uncertain significance |
| rs141830389 | X:109,445,514 | G/A | — | benign |
| rs2522495741 | X:109,445,707 | C/T | — | uncertain significance |
| rs140856361 | X:109,445,714 | T/C | — | benign |
| rs201052711 | X:109,459,832 | T/A | — | uncertain significance |
| rs1057519337 | X:109,507,771 | C/T | missense variant | pathogenic |
| rs2067757957 | X:109,507,775 | T/C | — | uncertain significance |
| rs1057519338 | X:109,507,799 | G/A | stop gained | pathogenic |
| rs765498367 | X:109,560,871 | A/T | — | likely pathogenic |
| rs977896524 | X:109,560,898 | G/A | — | likely benign |
| rs745844977 | X:109,560,944 | G/C | — | likely benign |
| rs2522638807 | X:109,560,978 | G/A | — | uncertain significance |
| rs2522638827 | X:109,560,984 | A/G | — | uncertain significance |
| rs967455817 | X:109,560,987 | A/C | — | uncertain significance |
| rs1247385721 | X:109,560,995 | G/A | — | uncertain significance |
| rs199797010 | X:109,561,017 | T/A | — | conflicting classifications of pathogenicity |
| rs2522639213 | X:109,561,050 | C/A | — | likely benign |
| rs750347793 | X:109,561,062 | C/G | — | uncertain significance |
| rs1453532929 | X:109,561,080 | G/T | — | uncertain significance |
| rs2522639532 | X:109,561,098 | A/G | — | uncertain significance |
| rs2522639660 | X:109,561,122 | T/C | — | uncertain significance |
| rs2068060086 | X:109,561,173 | C/T | — | uncertain significance |
| rs754418160 | X:109,561,186 | C/G | — | uncertain significance |
| rs915758504 | X:109,561,214 | G/A | — | uncertain significance |
| rs775481785 | X:109,561,247 | G/T | — | conflicting classifications of pathogenicity |
| rs1452167464 | X:109,561,277 | A/T | — | uncertain significance |
| rs757962710 | X:109,561,282 | G/A | — | likely benign |
| rs777610803 | X:109,561,288 | A/G | — | likely benign |
| rs2883091 | X:109,684,139 | G/C | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.