ADAT3

adenosine deaminase tRNA specific 3

Summary

This gene encodes a subunit of a tRNA-specific adenosine deaminase. This heterodimeric enzyme converts adenosine to inosine in the tRNA anticodon. A mutation in this gene causes a syndrome characterized by intellectual disability and strabismus. This gene shares its 5' exon with the overlapping gene, secretory carrier membrane protein 4 (Gene ID: 113178). [provided by RefSeq, Jul 2016]

Known Variants94 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs770766635	19:1,912,062	C/T	—	uncertain significance
rs546800224	19:1,912,082	G/A	—	likely benign
rs2013484636	19:1,912,100	G/C	—	uncertain significance
rs752745048	19:1,912,102	C/T	—	uncertain significance
rs764240025	19:1,912,105	C/T	—	uncertain significance
rs538664300	19:1,912,108	C/G	—	uncertain significance
rs1482874328	19:1,912,113	C/T	—	uncertain significance
rs2013487317	19:1,912,124	G/T	—	uncertain significance
rs2512105701	19:1,912,133	C/G	—	uncertain significance
rs771938043	19:1,912,154	G/C	—	uncertain significance
rs760510020	19:1,912,157	T/G	—	likely benign
rs764329582	19:1,912,162	C/T	—	uncertain significance
rs762131026	19:1,912,164	G/T	—	uncertain significance
rs138302527	19:1,912,193	C/T	—	likely benign
rs904151212	19:1,912,197	A/C	—	likely benign
rs777266066	19:1,912,207	G/A	—	uncertain significance
rs149646876	19:1,912,227	G/T	—	conflicting classifications of pathogenicity
rs763069426	19:1,912,261	C/T	—	uncertain significance
rs140122850	19:1,912,262	C/G	—	likely benign
rs746742994	19:1,912,297	C/G	—	uncertain significance
rs540777845	19:1,912,304	C/T	—	likely benign
rs933590538	19:1,912,320	A/C	—	uncertain significance
rs763237998	19:1,912,324	G/A	—	uncertain significance
rs774805201	19:1,912,338	C/G	—	uncertain significance
rs764870597	19:1,912,350	A/G	—	uncertain significance
rs1053758336	19:1,912,360	C/G	—	uncertain significance
rs2013509956	19:1,912,384	C/G	—	uncertain significance
rs1156539885	19:1,912,401	C/A	—	uncertain significance
rs1430965718	19:1,912,402	C/T	—	uncertain significance
rs1016737811	19:1,912,408	C/T	—	uncertain significance
rs576864116	19:1,912,409	G/A	—	benign
rs200992550	19:1,912,429	G/T	—	conflicting classifications of pathogenicity
rs774600353	19:1,912,470	G/A	—	uncertain significance
rs1346419074	19:1,912,482	G/A	—	uncertain significance
rs562447196	19:1,912,486	G/A	—	conflicting classifications of pathogenicity
rs1599240670	19:1,912,487	G/A	—	likely benign
rs937114381	19:1,912,490	G/A	—	likely benign
rs373784387	19:1,912,568	C/T	—	benign
rs1319907275	19:1,912,575	G/A	—	uncertain significance
rs1287323150	19:1,912,591	C/T	—	uncertain significance
rs139117131	19:1,912,594	C/T	—	conflicting classifications of pathogenicity
rs754448917	19:1,912,597	A/G	—	uncertain significance
rs765891253	19:1,912,625	G/A	—	uncertain significance
rs908444236	19:1,912,642	C/T	—	uncertain significance
rs1038210075	19:1,912,647	C/T	—	uncertain significance
rs751313469	19:1,912,672	G/A	—	uncertain significance
rs1455459409	19:1,912,686	G/A	—	uncertain significance
rs757333098	19:1,912,713	G/A	—	uncertain significance
rs2013538448	19:1,912,722	A/C	—	uncertain significance
rs747288058	19:1,912,747	A/C	—	likely benign
rs1406445412	19:1,912,752	C/T	—	uncertain significance
rs1231511320	19:1,912,762	A/C	—	uncertain significance
rs1340599779	19:1,912,764	G/A	—	uncertain significance
rs116296830	19:1,912,770	A/G	—	benign
rs2512108112	19:1,912,772	G/A	—	uncertain significance
rs1196409855	19:1,912,785	C/G	—	uncertain significance
rs1368212261	19:1,912,794	C/T	—	uncertain significance
rs752566822	19:1,912,797	G/A	—	uncertain significance
rs556568423	19:1,912,807	G/A	—	uncertain significance
rs921199964	19:1,912,823	C/A	—	conflicting classifications of pathogenicity
rs758520906	19:1,912,848	G/A	—	uncertain significance
rs780093794	19:1,912,849	C/G	—	uncertain significance
rs748493151	19:1,912,852	C/T	—	uncertain significance
rs536220756	19:1,912,866	C/G	—	uncertain significance
rs142175228	19:1,912,877	C/T	—	likely benign
rs146212621	19:1,912,900	A/C	—	likely benign
rs1208847224	19:1,912,908	G/A	—	uncertain significance
rs188235892	19:1,912,913	C/T	—	likely benign
rs373435718	19:1,912,916	C/T	—	likely benign
rs772924757	19:1,912,920	C/T	—	uncertain significance
rs376020426	19:1,912,921	C/T	—	uncertain significance
rs2013561587	19:1,912,923	T/A	—	uncertain significance
rs12984675	19:1,912,934	T/C	—	likely benign
rs757728126	19:1,912,943	C/G	—	uncertain significance
rs576894159	19:1,912,950	G/A	—	uncertain significance
rs932578273	19:1,912,954	C/T	—	uncertain significance
rs368586557	19:1,912,956	C/T	—	uncertain significance
rs556261133	19:1,912,968	G/A	—	likely benign
rs200773180	19:1,912,971	A/G	—	uncertain significance
rs150936899	19:1,912,976	C/A	—	uncertain significance
rs76159002	19:1,912,986	C/T	—	benign
rs2145439743	19:1,912,987	T/C	—	uncertain significance
rs754285783	19:1,912,993	A/C	—	uncertain significance
rs149740927	19:1,913,008	G/C	—	uncertain significance
rs1402238455	19:1,913,019	G/C	—	uncertain significance
rs760797955	19:1,913,024	G/A	—	likely benign
rs202206209	19:1,913,034	G/A	—	uncertain significance
rs753590636	19:1,913,047	G/T	—	uncertain significance
rs564283350	19:1,913,059	G/A	—	uncertain significance
rs2512109268	19:1,913,071	G/T	—	uncertain significance
rs756961086	19:1,913,103	C/T	—	uncertain significance
rs200437566	19:1,913,115	G/C	—	uncertain significance
rs1064796277	19:1,913,139	C/G	—	uncertain significance
rs773351384	19:1,913,146	C/T	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.