ASH1L

ASH1 like histone lysine methyltransferase

Summary

This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]

Known Variants500 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs143633976	1:155,307,459	G/A	—	conflicting classifications of pathogenicity
rs1399760947	1:155,307,475	G/C	—	uncertain significance
rs2525590354	1:155,307,534	C/T	—	uncertain significance
rs2148303474	1:155,307,537	C/T	—	uncertain significance
rs1652468987	1:155,307,912	A/G	—	likely benign
rs1282948812	1:155,307,937	G/A	—	uncertain significance
rs777719270	1:155,307,960	G/T	—	uncertain significance
rs776971631	1:155,307,990	C/T	—	uncertain significance
rs112342645	1:155,307,998	T/G	—	likely benign
rs1221514832	1:155,308,004	T/A	—	uncertain significance
rs144063453	1:155,308,021	C/T	—	likely benign
rs1390908329	1:155,308,026	G/A	—	uncertain significance
rs375668916	1:155,308,041	C/A	—	uncertain significance
rs190341782	1:155,308,042	G/A	—	uncertain significance
rs2525598070	1:155,308,108	T/G	—	uncertain significance
rs2525598203	1:155,308,119	G/A	—	uncertain significance
rs779448272	1:155,308,161	C/T	—	uncertain significance
rs1322664373	1:155,308,164	T/G	—	uncertain significance
rs749444214	1:155,309,133	C/A	—	uncertain significance
rs2525631205	1:155,311,716	A/G	—	uncertain significance
rs1652858406	1:155,311,740	T/C	—	uncertain significance
rs2525631440	1:155,311,741	T/G	—	uncertain significance
rs754910117	1:155,311,773	G/A	—	uncertain significance
rs2525632231	1:155,311,795	G/C	—	uncertain significance
rs369654728	1:155,311,800	C/T	—	uncertain significance
rs1298178532	1:155,311,801	G/A	—	uncertain significance
rs2148318345	1:155,311,812	A/G	—	uncertain significance
rs1553241570	1:155,311,831	C/G	—	pathogenic
rs2525632837	1:155,311,845	C/T	—	uncertain significance
rs199835574	1:155,311,850	A/G	—	likely benign
rs2525633135	1:155,311,884	T/C	—	uncertain significance
rs1268497542	1:155,311,888	G/T	—	uncertain significance
rs4971051	1:155,313,047	T/C	—	benign
rs759365830	1:155,313,124	G/T	—	uncertain significance
rs1370863385	1:155,313,210	G/C	—	uncertain significance
rs2525646324	1:155,313,234	C/G	—	uncertain significance
rs377030702	1:155,313,238	G/C	—	likely benign
rs375304383	1:155,313,242	C/T	—	uncertain significance
rs1001568799	1:155,313,423	G/A	—	uncertain significance
rs2525648200	1:155,313,444	G/A	—	likely pathogenic
rs1653001196	1:155,313,533	C/T	—	uncertain significance
rs201394353	1:155,313,979	C/T	—	likely benign
rs2525654022	1:155,313,998	G/A	—	likely pathogenic
rs765774025	1:155,314,021	C/T	—	uncertain significance
rs757964056	1:155,314,036	T/A	—	uncertain significance
rs1653045373	1:155,314,052	T/C	—	uncertain significance
rs1653045613	1:155,314,054	A/G	—	uncertain significance
rs549921219	1:155,315,895	G/A	—	likely benign
rs2148332270	1:155,316,191	G/T	—	uncertain significance
rs1653334104	1:155,316,233	C/A	—	uncertain significance
rs2525680225	1:155,316,241	C/T	—	uncertain significance
rs2525680353	1:155,316,260	C/A	—	likely pathogenic
rs2525680432	1:155,316,266	G/T	—	likely benign
rs749649980	1:155,317,487	T/C	—	uncertain significance
rs765095671	1:155,317,529	T/G	—	uncertain significance
rs201784092	1:155,317,555	G/C	—	benign
rs756301245	1:155,317,565	C/A	—	uncertain significance
rs1653494360	1:155,317,617	C/T	—	uncertain significance
rs1017867504	1:155,317,628	G/A	—	likely benign
rs775570091	1:155,317,647	G/A	—	pathogenic
rs138122556	1:155,317,652	C/T	—	conflicting classifications of pathogenicity
rs764902812	1:155,317,653	G/A	—	likely benign
rs41264231	1:155,317,682	C/T	—	benign
rs1383265101	1:155,317,689	A/G	—	uncertain significance
rs2525713328	1:155,319,124	A/G	—	likely benign
rs1293752583	1:155,319,159	C/T	—	uncertain significance
rs2525713886	1:155,319,170	T/C	—	uncertain significance
rs776234558	1:155,319,173	T/C	—	uncertain significance
rs747704331	1:155,319,176	T/C	—	uncertain significance
rs1167682897	1:155,319,242	T/C	—	uncertain significance
rs2525715724	1:155,319,327	A/G	—	uncertain significance
rs2525715763	1:155,319,334	T/G	—	uncertain significance
rs2148343408	1:155,319,346	G/A	—	uncertain significance
rs752016721	1:155,319,384	G/A	—	uncertain significance
rs2148354522	1:155,322,502	T/C	—	uncertain significance
rs2525753200	1:155,322,506	A/G	—	likely pathogenic
rs2525753468	1:155,322,522	A/C	—	uncertain significance
rs1175812232	1:155,322,547	C/T	—	uncertain significance
rs751965544	1:155,322,553	G/A	—	uncertain significance
rs1654048048	1:155,322,572	T/C	—	uncertain significance
rs1251961569	1:155,322,610	C/T	—	uncertain significance
rs1558023357	1:155,322,611	G/A	—	pathogenic
rs753396609	1:155,322,614	C/T	—	benign
rs767886572	1:155,324,267	A/T	—	uncertain significance
rs1249415159	1:155,324,287	C/T	—	uncertain significance
rs1654197505	1:155,324,290	C/T	—	uncertain significance
rs761224594	1:155,324,307	G/C	—	likely benign
rs1654200148	1:155,324,318	A/C	—	uncertain significance
rs1654202268	1:155,324,348	T/C	—	uncertain significance
rs1654203534	1:155,324,369	G/A	—	uncertain significance
rs2525771157	1:155,324,379	C/T	—	pathogenic
rs1443803670	1:155,324,386	C/T	—	uncertain significance
rs143986534	1:155,324,397	T/C	—	likely benign
rs2148360045	1:155,324,400	A/G	—	likely benign
rs2148370703	1:155,327,111	C/T	—	uncertain significance
rs373014963	1:155,327,116	T/C	—	uncertain significance
rs1278493438	1:155,327,146	G/T	—	uncertain significance
rs541113368	1:155,327,160	G/C	—	likely benign
rs148906700	1:155,327,166	G/A	—	likely benign
rs201789145	1:155,327,167	A/T	—	likely benign

Showing 100 of 500 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.