MUTYH
mutY DNA glycosylase
Summary
This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. This gene product is thought to play a role in signaling apoptosis by the introduction of single-strand breaks following oxidative damage. Mutations in this gene result in heritable predisposition to colorectal cancer, termed MUTYH-associated polyposis (MAP). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]
Known Variants1,750 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1644336378 | 1:45,794,959 | A/G | — | uncertain significance |
| rs750156472 | 1:45,794,963 | G/A | — | likely benign |
| rs1644338066 | 1:45,794,971 | A/T | — | uncertain significance |
| rs758118037 | 1:45,794,974 | G/C | — | uncertain significance |
| rs876658168 | 1:45,794,975 | G/T | — | uncertain significance |
| rs1308516608 | 1:45,794,979 | C/G | — | uncertain significance |
| rs909488660 | 1:45,794,981 | C/T | — | likely benign |
| rs2523724866 | 1:45,794,982 | T/G | — | uncertain significance |
| rs765990397 | 1:45,794,983 | G/A | — | uncertain significance |
| rs1281782540 | 1:45,794,984 | G/T | — | likely benign |
| rs1570310019 | 1:45,794,987 | T/A | — | likely benign |
| rs1553122784 | 1:45,794,988 | G/A | — | conflicting classifications of pathogenicity |
| rs1644345586 | 1:45,794,989 | C/T | — | conflicting classifications of pathogenicity |
| rs1553122794 | 1:45,794,990 | A/C | — | conflicting classifications of pathogenicity |
| rs2149087335 | 1:45,794,991 | C/G | — | uncertain significance |
| rs1553122801 | 1:45,794,992 | T/C | — | conflicting classifications of pathogenicity |
| rs2149087408 | 1:45,794,993 | G/A | — | likely benign |
| rs2149087436 | 1:45,794,994 | T/C | — | conflicting classifications of pathogenicity |
| rs2149087458 | 1:45,794,995 | T/C | — | uncertain significance |
| rs2149087488 | 1:45,794,996 | G/A | — | likely benign |
| rs930407042 | 1:45,794,998 | G/C | — | uncertain significance |
| rs1570310355 | 1:45,794,999 | G/A | — | likely benign |
| rs1553122804 | 1:45,795,000 | C/T | — | conflicting classifications of pathogenicity |
| rs1209611812 | 1:45,795,002 | G/A | — | likely benign |
| rs2523730501 | 1:45,795,003 | T/C | — | uncertain significance |
| rs1553122813 | 1:45,795,004 | G/A | — | uncertain significance |
| rs2523730908 | 1:45,795,005 | T/C | — | conflicting classifications of pathogenicity |
| rs751053826 | 1:45,795,006 | G/A | — | conflicting classifications of pathogenicity |
| rs2149087688 | 1:45,795,007 | C/T | — | conflicting classifications of pathogenicity |
| rs1570310709 | 1:45,795,008 | A/C | — | uncertain significance |
| rs1439243449 | 1:45,795,010 | C/T | — | conflicting classifications of pathogenicity |
| rs756708148 | 1:45,795,011 | A/G | — | likely benign |
| rs151196169 | 1:45,795,013 | T/C | — | conflicting classifications of pathogenicity |
| rs2149087894 | 1:45,795,014 | G/A | — | likely benign |
| rs749775244 | 1:45,795,015 | G/A | — | uncertain significance |
| rs2523733814 | 1:45,795,016 | A/G | — | uncertain significance |
| rs1570311056 | 1:45,795,017 | G/A | — | uncertain significance |
| rs2523734361 | 1:45,795,018 | A/T | — | uncertain significance |
| rs757615745 | 1:45,795,019 | T/C | — | conflicting classifications of pathogenicity |
| rs779326923 | 1:45,795,020 | G/A | — | likely benign |
| rs746159001 | 1:45,795,022 | G/A | — | conflicting classifications of pathogenicity |
| rs2523735617 | 1:45,795,023 | A/T | — | likely benign |
| rs2523735905 | 1:45,795,024 | G/A | — | benign |
| rs2149088099 | 1:45,795,025 | A/C | — | uncertain significance |
| rs1570311414 | 1:45,795,026 | C/G | — | likely benign |
| rs3219497 | 1:45,795,027 | C/G | — | conflicting classifications of pathogenicity |
| rs144616312 | 1:45,795,028 | G/A | — | conflicting classifications of pathogenicity |
| rs1557444106 | 1:45,795,029 | A/T | — | conflicting classifications of pathogenicity |
| rs768671057 | 1:45,795,032 | G/T | — | conflicting classifications of pathogenicity |
| rs2523738011 | 1:45,795,033 | A/G | — | likely benign |
| rs876659054 | 1:45,795,035 | A/G | — | likely benign |
| rs1553122883 | 1:45,795,039 | T/G | — | conflicting classifications of pathogenicity |
| rs147923905 | 1:45,795,040 | C/A | — | conflicting classifications of pathogenicity |
| rs1570312139 | 1:45,795,041 | C/T | — | conflicting classifications of pathogenicity |
| rs3219496 | 1:45,795,043 | G/T | — | likely benign |
| rs876658222 | 1:45,795,044 | G/A | — | conflicting classifications of pathogenicity |
| rs1570312447 | 1:45,795,046 | C/T | — | uncertain significance |
| rs182537898 | 1:45,795,049 | G/A | — | pathogenic |
| rs1570312666 | 1:45,795,050 | C/A | — | uncertain significance |
| rs2523741447 | 1:45,795,052 | G/T | — | conflicting classifications of pathogenicity |
| rs1644364398 | 1:45,795,053 | G/A | — | likely benign |
| rs2149088707 | 1:45,795,054 | C/T | — | conflicting classifications of pathogenicity |
| rs2149088733 | 1:45,795,055 | C/T | — | uncertain significance |
| rs1570312735 | 1:45,795,056 | C/T | — | conflicting classifications of pathogenicity |
| rs1570312788 | 1:45,795,057 | A/G | — | conflicting classifications of pathogenicity |
| rs587780080 | 1:45,795,058 | T/A | — | conflicting classifications of pathogenicity |
| rs773072703 | 1:45,795,059 | G/T | — | likely benign |
| rs374655042 | 1:45,795,060 | C/T | — | conflicting classifications of pathogenicity |
| rs147480076 | 1:45,795,061 | G/A | — | conflicting classifications of pathogenicity |
| rs1553122945 | 1:45,795,062 | G/A | — | likely benign |
| rs1553122949 | 1:45,795,063 | G/A | — | conflicting classifications of pathogenicity |
| rs2149089064 | 1:45,795,064 | G/T | — | uncertain significance |
| rs1644368705 | 1:45,795,065 | C/A | — | conflicting classifications of pathogenicity |
| rs1451314352 | 1:45,795,068 | T/C | — | likely benign |
| rs1644370527 | 1:45,795,069 | T/C | — | conflicting classifications of pathogenicity |
| rs2523745719 | 1:45,795,070 | T/C | — | benign |
| rs2149089222 | 1:45,795,071 | C/T | — | likely benign |
| rs369410616 | 1:45,795,072 | C/T | — | conflicting classifications of pathogenicity |
| rs754364718 | 1:45,795,073 | G/A | — | conflicting classifications of pathogenicity |
| rs1196038451 | 1:45,795,075 | C/T | — | uncertain significance |
| rs1380281188 | 1:45,795,076 | T/G | — | conflicting classifications of pathogenicity |
| rs757781701 | 1:45,795,077 | G/C | — | uncertain significance |
| rs779256175 | 1:45,795,078 | C/T | — | conflicting classifications of pathogenicity |
| rs2149089530 | 1:45,795,079 | A/G | — | conflicting classifications of pathogenicity |
| rs143796254 | 1:45,795,080 | C/T | — | conflicting classifications of pathogenicity |
| rs587778542 | 1:45,795,081 | G/A | — | conflicting classifications of pathogenicity |
| rs1553123034 | 1:45,795,082 | G/T | — | conflicting classifications of pathogenicity |
| rs2523749339 | 1:45,795,083 | A/T | — | likely benign |
| rs140118273 | 1:45,795,084 | G/A | — | uncertain significance |
| rs1000260695 | 1:45,795,086 | G/A | — | likely benign |
| rs2523750373 | 1:45,795,088 | A/G | — | conflicting classifications of pathogenicity |
| rs903021507 | 1:45,795,089 | C/T | — | likely benign |
| rs1644378236 | 1:45,795,090 | A/T | — | uncertain significance |
| rs780209880 | 1:45,795,091 | C/A | — | conflicting classifications of pathogenicity |
| rs1553123054 | 1:45,795,093 | T/G | — | uncertain significance |
| rs1644379783 | 1:45,795,094 | G/C | — | uncertain significance |
| rs796921537 | 1:45,795,096 | G/A | — | conflicting classifications of pathogenicity |
| rs2149089955 | 1:45,795,097 | A/T | — | conflicting classifications of pathogenicity |
| rs747201171 | 1:45,795,098 | C/A | — | conflicting classifications of pathogenicity |
| rs2149090030 | 1:45,795,099 | C/T | — | conflicting classifications of pathogenicity |
Showing 100 of 1,750 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.