MSH4
mutS homolog 4
Summary
This gene encodes a member of the DNA mismatch repair mutS family. This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis I. This protein and MSH5 form a heterodimer which binds uniquely to a Holliday Junction and its developmental progenitor, thus provoking ADP-ATP exchange, and stabilizing the interaction between parental chromosomes during meiosis double-stranded break repair. [provided by RefSeq, Aug 2011]
Known Variants66 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs914029048 | 1:76,262,693 | C/T | — | uncertain significance |
| rs1351057743 | 1:76,262,707 | G/A | — | uncertain significance |
| rs776300900 | 1:76,262,711 | C/T | — | uncertain significance |
| rs763754874 | 1:76,262,726 | C/T | — | uncertain significance |
| rs1206991420 | 1:76,262,741 | G/T | — | uncertain significance |
| rs768580249 | 1:76,262,759 | G/T | — | uncertain significance |
| rs1649830216 | 1:76,262,762 | A/G | — | uncertain significance |
| rs143196853 | 1:76,262,773 | C/A | — | uncertain significance |
| rs773758038 | 1:76,262,790 | G/T | — | uncertain significance |
| rs372420838 | 1:76,262,837 | C/T | — | uncertain significance |
| rs138536732 | 1:76,262,885 | G/A | — | uncertain significance |
| rs377057828 | 1:76,262,893 | C/A | — | uncertain significance |
| rs778770110 | 1:76,269,416 | G/C | — | uncertain significance |
| rs5745325 | 1:76,269,460 | G/A | missense variant | benign |
| rs200513557 | 1:76,269,574 | T/C | — | uncertain significance |
| rs773612548 | 1:76,272,724 | A/T | — | uncertain significance |
| rs144700439 | 1:76,272,778 | C/A | — | uncertain significance |
| rs1650173040 | 1:76,276,418 | A/G | — | uncertain significance |
| rs1650173522 | 1:76,276,440 | G/T | — | uncertain significance |
| rs2525834453 | 1:76,280,744 | T/A | — | uncertain significance |
| rs376327385 | 1:76,280,766 | A/G | — | uncertain significance |
| rs144767182 | 1:76,282,120 | T/C | — | uncertain significance |
| rs80063722 | 1:76,282,167 | A/G | — | uncertain significance |
| rs748975135 | 1:76,282,171 | C/T | — | uncertain significance |
| rs777079867 | 1:76,288,129 | C/T | — | likely pathogenic |
| rs573895131 | 1:76,288,137 | C/G | — | uncertain significance |
| rs116141807 | 1:76,288,167 | A/G | — | likely pathogenic |
| rs6683437 | 1:76,316,619 | G/A | intron variant | — |
| rs1651613464 | 1:76,333,200 | T/C | — | uncertain significance |
| rs761392742 | 1:76,333,230 | T/C | — | uncertain significance |
| rs2525971170 | 1:76,342,670 | C/A | — | uncertain significance |
| rs770679911 | 1:76,343,896 | G/A | — | uncertain significance |
| rs1651856824 | 1:76,343,916 | C/T | — | likely pathogenic |
| rs373060158 | 1:76,343,931 | G/T | — | uncertain significance |
| rs116549128 | 1:76,343,943 | A/G | — | conflicting classifications of pathogenicity |
| rs766489963 | 1:76,343,992 | A/G | — | uncertain significance |
| rs1493367 | 1:76,344,011 | C/A | — | benign |
| rs2100570734 | 1:76,344,688 | C/T | — | pathogenic |
| rs767433837 | 1:76,344,696 | A/G | — | uncertain significance |
| rs5745448 | 1:76,344,705 | T/C | — | benign |
| rs5745449 | 1:76,344,711 | A/T | — | benign |
| rs1244992679 | 1:76,344,740 | G/A | — | uncertain significance |
| rs5745459 | 1:76,345,823 | A/G | — | benign |
| rs762617269 | 1:76,346,931 | G/T | — | uncertain significance |
| rs1159528410 | 1:76,346,934 | A/G | — | uncertain significance |
| rs1430228393 | 1:76,347,004 | A/G | — | likely pathogenic |
| rs2525982024 | 1:76,347,014 | T/C | — | uncertain significance |
| rs5745467 | 1:76,347,063 | G/T | — | benign |
| rs149910287 | 1:76,349,349 | G/A | — | pathogenic |
| rs2525991369 | 1:76,349,353 | C/T | — | uncertain significance |
| rs1321985831 | 1:76,349,399 | C/A | — | uncertain significance |
| rs1203487956 | 1:76,354,983 | A/G | — | uncertain significance |
| rs1197512782 | 1:76,355,023 | A/T | — | uncertain significance |
| rs149042353 | 1:76,355,026 | C/A | — | likely pathogenic |
| rs377712900 | 1:76,356,415 | C/T | — | pathogenic |
| rs774501542 | 1:76,356,510 | G/A | — | pathogenic |
| rs557796016 | 1:76,363,610 | A/G | — | likely pathogenic |
| rs1652419468 | 1:76,363,611 | C/T | — | uncertain significance |
| rs201866178 | 1:76,363,707 | A/C | — | uncertain significance |
| rs114093703 | 1:76,363,756 | G/C | — | benign |
| rs762304277 | 1:76,365,333 | C/T | — | uncertain significance |
| rs374598563 | 1:76,365,357 | A/G | — | uncertain significance |
| rs777030754 | 1:76,378,406 | T/A | — | uncertain significance |
| rs759876225 | 1:76,378,407 | G/T | — | uncertain significance |
| rs765492433 | 1:76,378,427 | A/T | — | uncertain significance |
| rs771456188 | 1:76,378,489 | C/T | — | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.