MFAP2
microfibril associated protein 2
Summary
Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for involvement in the etiology of inherited connective tissue diseases. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201874534 | 1:17,301,446 | G/C | — | likely benign |
| rs2235933 | 1:17,301,448 | C/G | synonymous variant | — |
| rs529678128 | 1:17,301,805 | A/C | — | uncertain significance |
| rs373562256 | 1:17,301,829 | C/T | — | uncertain significance |
| rs187740466 | 1:17,301,832 | C/T | — | uncertain significance |
| rs1313228353 | 1:17,302,181 | G/A | — | uncertain significance |
| rs758995080 | 1:17,303,004 | C/T | — | uncertain significance |
| rs2522508018 | 1:17,303,205 | G/A | — | uncertain significance |
| rs2522508053 | 1:17,303,208 | G/A | — | uncertain significance |
| rs373784175 | 1:17,303,277 | C/G | — | uncertain significance |
| rs2522513188 | 1:17,303,667 | C/T | — | uncertain significance |
| rs2284748 | 1:17,306,595 | T/C | regulatory region variant | — |
| rs2284747 | 1:17,306,596 | C/T | regulatory region variant | — |
| rs2284746 | 1:17,306,675 | C/A | — | — |
| rs55750792 | 1:17,306,870 | G/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.