KRT17

keratin 17

Summary

This gene encodes the type I intermediate filament chain keratin 17, expressed in nail bed, hair follicle, sebaceous glands, and other epidermal appendages. Mutations in this gene lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex. [provided by RefSeq, Aug 2008]

Known Variants105 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs117941474	17:39,775,870	C/T	—	benign
rs1176808154	17:39,775,871	T/C	—	uncertain significance
rs148013099	17:39,775,874	C/T	—	likely benign
rs768916198	17:39,775,875	G/A	—	likely benign
rs767866536	17:39,775,906	T/C	—	likely benign
rs754301737	17:39,775,919	C/A	—	uncertain significance
rs777503614	17:39,775,929	G/A	—	uncertain significance
rs367560898	17:39,776,788	G/A	—	likely benign
rs2543822026	17:39,776,799	T/C	—	uncertain significance
rs1371951230	17:39,776,810	G/A	—	likely benign
rs56690581	17:39,776,929	A/G	—	likely pathogenic
rs1330476715	17:39,776,935	C/T	—	uncertain significance
rs150564761	17:39,776,965	C/T	—	likely benign
rs200744890	17:39,776,966	G/A	—	likely benign
rs267607413	17:39,776,980	A/G	—	not provided
rs2144612644	17:39,776,991	G/T	—	uncertain significance
rs139939142	17:39,777,031	G/T	—	uncertain significance
rs142267571	17:39,777,047	C/T	—	benign
rs140015248	17:39,777,099	T/C	—	likely benign
rs149778356	17:39,777,128	C/T	—	likely benign
rs370554150	17:39,777,213	C/T	—	pathogenic
rs1478246116	17:39,777,238	G/C	—	uncertain significance
rs148958331	17:39,777,275	C/T	—	benign
rs1232590489	17:39,777,303	A/G	—	uncertain significance
rs147718833	17:39,777,326	G/A	—	benign
rs376512226	17:39,777,327	C/A	—	uncertain significance
rs1191794775	17:39,777,328	G/A	—	uncertain significance
rs181927196	17:39,777,351	C/G	—	likely benign
rs190234778	17:39,777,840	C/T	—	likely benign
rs201183067	17:39,777,842	C/T	—	benign
rs767912889	17:39,777,865	C/T	—	uncertain significance
rs142566077	17:39,777,866	G/A	—	likely benign
rs753353264	17:39,777,876	C/A	—	uncertain significance
rs146900210	17:39,777,895	T/A	—	conflicting classifications of pathogenicity
rs200256057	17:39,777,909	C/T	—	uncertain significance
rs371597344	17:39,777,917	G/A	—	benign
rs139367104	17:39,777,928	G/A	—	conflicting classifications of pathogenicity
rs759164750	17:39,777,935	G/C	—	uncertain significance
rs150297631	17:39,777,950	A/C	—	likely benign
rs137961542	17:39,777,990	C/T	—	uncertain significance
rs147053246	17:39,777,998	G/A	—	benign
rs561972274	17:39,778,013	A/G	—	likely benign
rs1240670657	17:39,778,602	C/T	—	uncertain significance
rs140804147	17:39,778,612	C/T	—	benign
rs150142591	17:39,778,613	G/A	—	benign
rs141781644	17:39,778,673	G/A	—	benign
rs146261696	17:39,778,711	G/A	—	likely benign
rs369930286	17:39,778,769	G/A	—	benign
rs9916519	17:39,779,160	G/C	—	benign
rs565370990	17:39,779,183	G/A	—	likely benign
rs115084509	17:39,779,209	G/A	—	benign
rs759605871	17:39,779,229	C/T	—	uncertain significance
rs150822982	17:39,779,270	G/C	—	likely benign
rs548038952	17:39,779,304	G/A	—	likely benign
rs548658764	17:39,780,016	C/A	—	—
rs776656656	17:39,780,348	A/G	—	likely benign
rs1475360701	17:39,780,352	G/A	—	uncertain significance
rs560097504	17:39,780,383	G/A	—	uncertain significance
rs754908705	17:39,780,388	G/C	—	uncertain significance
rs747955715	17:39,780,389	G/T	—	uncertain significance
rs200866964	17:39,780,390	G/A	—	benign
rs375507162	17:39,780,413	G/A	—	uncertain significance
rs267607412	17:39,780,437	T/C	—	pathogenic
rs150004075	17:39,780,443	C/T	—	benign
rs57436765	17:39,780,453	A/G	—	not provided
rs59977263	17:39,780,458	C/T	missense variant	pathogenic
rs2144616599	17:39,780,462	G/T	—	uncertain significance
rs28933089	17:39,780,466	A/G	missense variant	pathogenic
rs28933088	17:39,780,470	A/C	missense variant	pathogenic
rs28928899	17:39,780,478	A/T	missense variant	pathogenic
rs28928897	17:39,780,481	C/T	missense variant	pathogenic
rs58730926	17:39,780,482	G/A	missense variant	pathogenic
rs59151893	17:39,780,487	T/C	missense variant	pathogenic
rs28928896	17:39,780,488	T/C	missense variant	pathogenic
rs28928898	17:39,780,499	A/G	missense variant	pathogenic
rs2543827877	17:39,780,518	C/T	—	uncertain significance
rs199533432	17:39,780,537	A/G	—	likely benign
rs371521134	17:39,780,549	G/T	—	uncertain significance
rs752629599	17:39,780,559	C/T	—	uncertain significance
rs11553455	17:39,780,578	T/A	—	benign
rs200841795	17:39,780,583	C/G	—	likely benign
rs749331505	17:39,780,591	G/A	—	likely benign
rs748631498	17:39,780,605	C/T	—	likely benign
rs759301828	17:39,780,622	C/G	—	uncertain significance
rs371076226	17:39,780,624	G/A	—	likely benign
rs375582148	17:39,780,637	A/G	—	likely benign
rs754000754	17:39,780,654	A/G	—	likely benign
rs368662815	17:39,780,661	C/T	—	uncertain significance
rs547257458	17:39,780,663	G/A	—	benign
rs2229512	17:39,780,673	C/T	—	likely benign
rs750279151	17:39,780,695	C/T	—	likely benign
rs765583417	17:39,780,700	C/T	—	uncertain significance
rs200589130	17:39,780,708	G/A	—	benign
rs11553456	17:39,780,714	G/C	—	benign
rs1177336937	17:39,780,718	T/C	—	uncertain significance
rs748998080	17:39,780,744	G/A	—	benign
rs79896664	17:39,780,746	G/A	—	likely benign
rs11553458	17:39,780,752	A/T	—	benign
rs563778160	17:39,780,753	G/A	—	likely benign
rs760546497	17:39,780,760	A/G	—	uncertain significance

Showing 100 of 105 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.