Ppara Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)

37 records found for search term Ppara

Refine Term:

Assembly:

Chr

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
15139137	CV760986	single nucleotide variant	NM_005036.6(PPARA):c.1160-3T>C	not provided [RCV000921455]	likely benign	22	46235130	46235130	Human		name
405265997	CV3215838	single nucleotide variant	NM_005036.6(PPARA):c.39A>G (p.Pro13=)	PPARA-related disorder [RCV003946985]	likely benign	22	46198422	46198422	Human		name , trait , alternate_id
407529454	CV3471301	single nucleotide variant	NM_005036.6(PPARA):c.19C>G (p.Pro7Ala)	not specified [RCV004656054]	uncertain significance	22	46198402	46198402	Human		name
8637676	CV92902	single nucleotide variant	NM_005036.4(PPARA):c.234C>T (p.Pro78=)	Malignant melanoma [RCV000073000]	not provided	22	46215198	46215198	Human		name
155965732	CV2206568	single nucleotide variant	NM_005036.6(PPARA):c.43G>C (p.Glu15Gln)	not specified [RCV004080914]	uncertain significance	22	46198426	46198426	Human		name
597779176	CV3581050	single nucleotide variant	NM_005036.6(PPARA):c.37C>A (p.Pro13Thr)	not specified [RCV004853194]	uncertain significance	22	46198420	46198420	Human		name
597779188	CV3581053	single nucleotide variant	NM_005036.6(PPARA):c.61A>G (p.Ser21Gly)	not specified [RCV004853197]	uncertain significance	22	46198444	46198444	Human		name
15154740	CV717510	single nucleotide variant	NM_005036.6(PPARA):c.705C>T (p.Asn235=)	not provided [RCV000968794]	benign	22	46220008	46220008	Human		name
15152016	CV742972	single nucleotide variant	NM_005036.6(PPARA):c.550C>T (p.Leu184=)	not provided [RCV000901478]	benign	22	46219853	46219853	Human		name
15189601	CV742973	single nucleotide variant	NM_005036.6(PPARA):c.993G>A (p.Leu331=)	not provided [RCV000909699]	likely benign	22	46232073	46232073	Human		name
15098872	CV758127	single nucleotide variant	NM_005036.6(PPARA):c.315C>T (p.Cys105=)	not provided [RCV000914348]	likely benign	22	46215279	46215279	Human		name
15146289	CV773587	single nucleotide variant	NM_005036.6(PPARA):c.984C>T (p.Asp328=)	not provided [RCV000944724]	likely benign	22	46232064	46232064	Human		name
401737269	CV2699773	single nucleotide variant	NM_005036.6(PPARA):c.185G>T (p.Gly62Val)	not specified [RCV004308427]	uncertain significance	22	46198568	46198568	Human		name
405669763	CV3370036	single nucleotide variant	NM_005036.6(PPARA):c.197C>T (p.Ser66Leu)	not specified [RCV004514872]	uncertain significance	22	46198580	46198580	Human		name
597779172	CV3581049	single nucleotide variant	NM_005036.6(PPARA):c.173G>A (p.Gly58Glu)	not specified [RCV004853193]	uncertain significance	22	46198556	46198556	Human		name
598159674	CV3901112	single nucleotide variant	NM_005036.6(PPARA):c.185G>A (p.Gly62Asp)	not specified [RCV005260794]	uncertain significance	22	46198568	46198568	Human		name
15174948	CV742971	single nucleotide variant	NM_005036.6(PPARA):c.245C>T (p.Thr82Ile)	not provided [RCV000906095]	likely benign	22	46215209	46215209	Human		name
15199516	CV773588	single nucleotide variant	NM_005036.6(PPARA):c.1365G>A (p.Ala455=)	not provided [RCV000935128]	likely benign	22	46235338	46235338	Human		name
127308617	CV1129171	single nucleotide variant	NM_005036.6(PPARA):c.634G>A (p.Glu212Lys)	not provided [RCV001456125]\|not specified [RCV004038551]	likely benign\|uncertain significance	22	46219937	46219937	Human		name
156087393	CV2205800	single nucleotide variant	NM_005036.6(PPARA):c.422G>A (p.Arg141His)	not specified [RCV004075845]	uncertain significance	22	46218315	46218315	Human		name
155965166	CV2206361	single nucleotide variant	NM_005036.6(PPARA):c.656A>G (p.Asn219Ser)	not specified [RCV004078694]	uncertain significance	22	46219959	46219959	Human		name
156158806	CV2314563	single nucleotide variant	NM_005036.6(PPARA):c.601G>A (p.Ala201Thr)	not specified [RCV004168651]	uncertain significance	22	46219904	46219904	Human		name
329352403	CV2452966	single nucleotide variant	NM_005036.6(PPARA):c.871G>A (p.Ala291Thr)	not specified [RCV004277594]	uncertain significance	22	46231951	46231951	Human		name
329373426	CV2456111	single nucleotide variant	NM_005036.6(PPARA):c.557C>T (p.Ala186Val)	not specified [RCV004273002]	uncertain significance	22	46219860	46219860	Human		name
329390621	CV2459332	single nucleotide variant	NM_005036.6(PPARA):c.440A>G (p.Lys147Arg)	not specified [RCV004274747]	uncertain significance	22	46218333	46218333	Human		name
401773306	CV2698167	single nucleotide variant	NM_005036.6(PPARA):c.628A>C (p.Ile210Leu)	not specified [RCV004304737]	uncertain significance	22	46219931	46219931	Human		name
8599525	CV28740	single nucleotide variant	NM_005036.6(PPARA):c.484C>G (p.Leu162Val)	Hyperapobetalipoproteinemia, susceptibility to [RCV000014700]	risk factor\|benign	22	46218377	46218377	Human	1	name
405277026	CV3214494	single nucleotide variant	NM_005036.6(PPARA):c.803C>T (p.Ala268Val)	PPARA-related disorder [RCV003917352]	likely benign	22	46231883	46231883	Human	4	name , trait , alternate_id
405669756	CV3370037	single nucleotide variant	NM_005036.6(PPARA):c.443A>G (p.Lys148Arg)	not specified [RCV004514873]	uncertain significance	22	46218336	46218336	Human		name
407529456	CV3471302	single nucleotide variant	NM_005036.6(PPARA):c.524G>A (p.Arg175Gln)	not specified [RCV004656055]	uncertain significance	22	46219827	46219827	Human		name
407482497	CV3471303	single nucleotide variant	NM_005036.6(PPARA):c.977A>G (p.Asn326Ser)	not specified [RCV004664779]	uncertain significance	22	46232057	46232057	Human		name
597779184	CV3581052	single nucleotide variant	NM_005036.6(PPARA):c.571T>A (p.Cys191Ser)	not specified [RCV004853196]	uncertain significance	22	46219874	46219874	Human		name
598159670	CV3901111	single nucleotide variant	NM_005036.6(PPARA):c.397A>G (p.Lys133Glu)	not specified [RCV005260793]	uncertain significance	22	46218290	46218290	Human		name
15170342	CV705980	single nucleotide variant	NM_005036.6(PPARA):c.680T>C (p.Val227Ala)	PPARA-related disorder [RCV003933280]\|not provided [RCV000949632]	benign	22	46219983	46219983	Human	15	name , trait , alternate_id
15170342	CV705980	single nucleotide variant	NM_005036.6(PPARA):c.680T>C (p.Val227Ala)	PPARA-related disorder [RCV003933280]\|not provided [RCV000949632]	benign	22	46219983	46219984	Human	15	name , trait , alternate_id
156332668	CV2220722	single nucleotide variant	NM_005036.6(PPARA):c.1349C>T (p.Thr450Met)	not specified [RCV004097891]	uncertain significance	22	46235322	46235322	Human		name
329377671	CV2462796	single nucleotide variant	NM_005036.6(PPARA):c.1207G>A (p.Gly403Ser)	not specified [RCV004278711]	uncertain significance	22	46235180	46235180	Human		name

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message