ZNF518A

zinc finger protein 518A

Summary

The protein encoded by this gene is a member of the krueppel C2H2-type zinc finger protein family. The encoded protein contains five zinc fingers and is likely a nuclear transcriptional regulator. Numerous transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2016]

Known Variants80 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1088272310:97,897,752A/Gintron variant
rs78267147910:97,916,159T/Cuncertain significance
rs36882048410:97,916,231A/Tuncertain significance
rs20029958710:97,916,272C/Tuncertain significance
rs58767941610:97,916,335A/Cuncertain significance
rs78262490110:97,916,338A/Glikely benign
rs159122122510:97,916,364G/Cuncertain significance
rs249828230310:97,916,368A/Tuncertain significance
rs78204882510:97,916,462C/Auncertain significance
rs37773567310:97,916,546A/Glikely benign
rs94056187110:97,916,588G/Auncertain significance
rs78242816810:97,916,630A/Guncertain significance
rs37426071210:97,916,638G/Auncertain significance
rs78267539210:97,916,712G/Tuncertain significance
rs19999055210:97,916,755A/Guncertain significance
rs121762265510:97,916,905C/Auncertain significance
rs249831372810:97,916,926A/Guncertain significance
rs78274799810:97,916,950G/Auncertain significance
rs130400741610:97,916,972A/Guncertain significance
rs20169501710:97,917,053A/Guncertain significance
rs78251537810:97,917,056C/Tuncertain significance
rs78265568510:97,917,068G/Auncertain significance
rs18887286510:97,917,095G/Auncertain significance
rs78247024510:97,917,161A/Guncertain significance
rs58766947710:97,917,164G/Auncertain significance
rs78256131110:97,917,227A/Guncertain significance
rs36859259210:97,917,260C/Tuncertain significance
rs78257215110:97,917,265C/Glikely benign
rs6173106510:97,917,307G/Alikely benign
rs155488362310:97,917,358G/Tlikely benign
rs208276646610:97,917,508G/Auncertain significance
rs149009085210:97,917,541A/Guncertain significance
rs78205954110:97,917,639A/Guncertain significance
rs249835723310:97,917,658T/Cuncertain significance
rs135796622010:97,917,733T/Auncertain significance
rs58771685110:97,917,800A/Guncertain significance
rs36872122310:97,917,803A/Tuncertain significance
rs146000056510:97,917,836G/Tuncertain significance
rs155488422810:97,917,865A/Guncertain significance
rs18942468610:97,917,913A/Guncertain significance
rs208279897610:97,917,949A/Guncertain significance
rs121787463810:97,918,037G/Auncertain significance
rs37303513610:97,918,089C/Tlikely benign
rs140044633010:97,918,091A/Guncertain significance
rs208281257310:97,918,160A/Guncertain significance
rs15028612510:97,918,173A/Glikely benign
rs78184228710:97,918,358T/Cuncertain significance
rs144452601310:97,918,444G/Auncertain significance
rs58768934910:97,918,486A/Guncertain significance
rs14960604810:97,918,514A/Glikely benign
rs78228272210:97,918,568C/Tuncertain significance
rs78216144910:97,918,619G/Tuncertain significance
rs37684215410:97,918,630C/Tuncertain significance
rs136286651410:97,918,666A/Guncertain significance
rs381422810:97,918,915A/Cbenign
rs18390274610:97,918,917C/Auncertain significance
rs4129160410:97,919,011A/Gcoding sequence variant
rs78205818410:97,919,026A/Cuncertain significance
rs18907256010:97,919,123A/Cuncertain significance
rs20041005610:97,919,138A/Glikely benign
rs37337290510:97,919,309A/Guncertain significance
rs78258597210:97,919,380G/Tuncertain significance
rs249845777910:97,919,500C/Guncertain significance
rs18158925010:97,919,505A/Cuncertain significance
rs37714274210:97,919,580C/Glikely benign
rs78246747410:97,919,588A/Cuncertain significance
rs78273586810:97,919,591A/Guncertain significance
rs78223296910:97,919,597A/Guncertain significance
rs78195003710:97,919,617A/Tuncertain significance
rs19039307510:97,919,631G/Cuncertain significance
rs37643388210:97,919,736G/Tuncertain significance
rs78206525210:97,919,743A/Cuncertain significance
rs119524507210:97,919,745A/Guncertain significance
rs126762093910:97,919,765A/Cuncertain significance
rs208293118210:97,919,861A/Tuncertain significance
rs78186528710:97,919,911A/Cuncertain significance
rs78186456610:97,920,290C/Alikely benign
rs20165037210:97,925,223A/C
rs6185697810:97,941,022T/Cintron variant
rs452671310:97,944,489C/Tdownstream gene variant

Gene information from NCBI Gene. Variant classifications from ClinVar.