Amfr Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

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

59 records found for search term Amfr

Refine Term:

Assembly:

Chr

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
598227798	CV3521989	single nucleotide variant	NM_001144.6(AMFR):c.707+1G>A	Spastic paraplegia 89, autosomal recessive [RCV005254947]	likely pathogenic	16	56405203	56405203	Human	1	name
329953460	CV2668092	deletion	NM_001144.6(AMFR):c.12del (p.Phe5fs)	Spastic paraplegia 89, autosomal recessive [RCV003229578]	pathogenic	16	56425316	56425316	Human	1	name
405813333	CV3265802	single nucleotide variant	NM_001144.6(AMFR):c.534G>A (p.Thr178=)	not specified [RCV004409351]	likely benign	16	56408096	56408096	Human		name
405813355	CV3276125	single nucleotide variant	NM_001144.6(AMFR):c.56G>T (p.Gly19Val)	not specified [RCV004409361]	uncertain significance	16	56425272	56425272	Human		name
597797402	CV3701017	single nucleotide variant	NM_001144.6(AMFR):c.64G>A (p.Gly22Ser)	not specified [RCV004935791]	uncertain significance	16	56425264	56425264	Human		name
598221619	CV3968981	single nucleotide variant	NM_001144.6(AMFR):c.43C>A (p.Arg15Ser)	not specified [RCV005340619]	uncertain significance	16	56425285	56425285	Human		name
155962424	CV2388237	single nucleotide variant	NM_001144.6(AMFR):c.211C>T (p.Arg71Cys)	not specified [RCV004234695]	uncertain significance	16	56425117	56425117	Human		name
329951933	CV2668093	single nucleotide variant	NM_001144.6(AMFR):c.254G>A (p.Trp85Ter)	Spastic paraplegia 89, autosomal recessive [RCV003229579]	pathogenic	16	56425074	56425074	Human	1	name
329953461	CV2668096	deletion	NM_001144.6(AMFR):c.1086-97_1380+375del	Spastic paraplegia 89, autosomal recessive [RCV003229582]	pathogenic	16	56385544	56389472	Human	1	name
401720443	CV2673327	single nucleotide variant	NM_001144.6(AMFR):c.212G>A (p.Arg71His)	not specified [RCV004288312]	uncertain significance	16	56425116	56425116	Human		name
401881611	CV2759483	single nucleotide variant	NM_001144.6(AMFR):c.166G>A (p.Glu56Lys)	not specified [RCV004338477]	uncertain significance	16	56425162	56425162	Human		name
407484737	CV3449681	single nucleotide variant	NM_001144.6(AMFR):c.202C>T (p.Pro68Ser)	not specified [RCV004640580]	uncertain significance	16	56425126	56425126	Human		name
407484779	CV3449691	single nucleotide variant	NM_001144.6(AMFR):c.188C>G (p.Pro63Arg)	not specified [RCV004640588]	uncertain significance	16	56425140	56425140	Human		name
598194080	CV3968990	single nucleotide variant	NM_001144.6(AMFR):c.249C>G (p.Phe83Leu)	not specified [RCV005354773]	uncertain significance	16	56425079	56425079	Human		name
156373867	CV2201491	single nucleotide variant	NM_001144.6(AMFR):c.929G>A (p.Arg310His)	not specified [RCV004079639]	uncertain significance	16	56403030	56403030	Human		name
156053745	CV2344580	single nucleotide variant	NM_001144.6(AMFR):c.691G>T (p.Ala231Ser)	not specified [RCV004197355]	uncertain significance	16	56405220	56405220	Human		name
156123181	CV2350000	single nucleotide variant	NM_001144.6(AMFR):c.821T>C (p.Met274Thr)	not specified [RCV004199927]	uncertain significance	16	56404928	56404928	Human		name
156346565	CV2382764	single nucleotide variant	NM_001144.6(AMFR):c.978T>G (p.Phe326Leu)	not specified [RCV004224112]	uncertain significance	16	56401840	56401840	Human		name
329951934	CV2668094	single nucleotide variant	NM_001144.6(AMFR):c.369G>A (p.Trp123Ter)	Spastic paraplegia 89, autosomal recessive [RCV003229580]	pathogenic	16	56409568	56409568	Human	1	name
401720839	CV2702146	single nucleotide variant	NM_001144.6(AMFR):c.877G>A (p.Val293Ile)	not specified [RCV004314498]	uncertain significance	16	56403082	56403082	Human		name
401757475	CV2707801	single nucleotide variant	NM_001144.6(AMFR):c.616A>G (p.Ile206Val)	not specified [RCV004309091]	likely benign	16	56408014	56408014	Human		name
401864735	CV2761025	single nucleotide variant	NM_001144.6(AMFR):c.554G>A (p.Arg185Gln)	not specified [RCV004338693]	uncertain significance	16	56408076	56408076	Human		name
405813325	CV3265798	single nucleotide variant	NM_001144.6(AMFR):c.392T>A (p.Ile131Asn)	not specified [RCV004409347]	uncertain significance	16	56409545	56409545	Human		name
405813392	CV3276142	single nucleotide variant	NM_001144.6(AMFR):c.919C>T (p.Arg307Cys)	not specified [RCV004409378]	uncertain significance	16	56403040	56403040	Human		name
405813416	CV3276153	single nucleotide variant	NM_001144.6(AMFR):c.940A>G (p.Asn314Asp)	not specified [RCV004409389]	uncertain significance	16	56403019	56403019	Human		name
407484653	CV3449660	single nucleotide variant	NM_001144.6(AMFR):c.503G>A (p.Arg168Gln)	not specified [RCV004640564]	uncertain significance	16	56409434	56409434	Human		name
407468829	CV3449671	single nucleotide variant	NM_001144.6(AMFR):c.623G>T (p.Gly208Val)	not specified [RCV004636420]	uncertain significance	16	56408007	56408007	Human		name
597768878	CV3701012	single nucleotide variant	NM_001144.6(AMFR):c.673C>G (p.Leu225Val)	not specified [RCV004927599]	uncertain significance	16	56405238	56405238	Human		name
597797408	CV3701025	single nucleotide variant	NM_001144.6(AMFR):c.799A>G (p.Thr267Ala)	not specified [RCV004935793]	uncertain significance	16	56404950	56404950	Human		name
598193967	CV3968969	single nucleotide variant	NM_001144.6(AMFR):c.543C>G (p.Ser181Arg)	not specified [RCV005354754]	uncertain significance	16	56408087	56408087	Human		name
598194140	CV3969001	single nucleotide variant	NM_001144.6(AMFR):c.311G>A (p.Cys104Tyr)	not specified [RCV005354781]	uncertain significance	16	56414289	56414289	Human		name
617150190	CV4019162	single nucleotide variant	NM_001144.6(AMFR):c.550G>A (p.Gly184Ser)	not provided [RCV005423570]	uncertain significance	16	56408080	56408080	Human		name
11039564	CV223058	single nucleotide variant	NM_001144.6(AMFR):c.1786C>T (p.Arg596Cys)	Breast ductal adenocarcinoma [RCV000207121]	uncertain significance	16	56363055	56363055	Human	2	name
156244819	CV2231633	single nucleotide variant	NM_001144.6(AMFR):c.1846G>T (p.Gly616Cys)	not specified [RCV004098205]	uncertain significance	16	56362995	56362995	Human		name
156080088	CV2259311	single nucleotide variant	NM_001144.6(AMFR):c.1058A>C (p.Lys353Thr)	not specified [RCV004122323]	uncertain significance	16	56401760	56401760	Human		name
156145647	CV2292524	single nucleotide variant	NM_001144.6(AMFR):c.1606C>T (p.Arg536Cys)	not specified [RCV004150300]	uncertain significance	16	56364099	56364099	Human		name
156255667	CV2359067	single nucleotide variant	NM_001144.6(AMFR):c.1516C>T (p.Arg506Trp)	not specified [RCV004212388]	uncertain significance	16	56367527	56367527	Human		name
155953214	CV2393921	single nucleotide variant	NM_001144.6(AMFR):c.1345A>G (p.Ile449Val)	not specified [RCV004233738]	uncertain significance	16	56385954	56385954	Human		name
329383017	CV2434431	single nucleotide variant	NM_001144.6(AMFR):c.1241G>A (p.Arg414His)	not specified [RCV004254143]	uncertain significance	16	56389220	56389220	Human		name
329402900	CV2461993	single nucleotide variant	NM_001144.6(AMFR):c.1654G>A (p.Gly552Ser)	not specified [RCV004272183]	likely benign	16	56364051	56364051	Human		name
329360917	CV2463107	single nucleotide variant	NM_001144.6(AMFR):c.1390A>T (p.Ile464Phe)	not specified [RCV004274910]	uncertain significance	16	56369318	56369318	Human		name
401774093	CV2727730	single nucleotide variant	NM_001144.6(AMFR):c.1097G>A (p.Arg366His)	not specified [RCV004323767]	uncertain significance	16	56389364	56389364	Human		name
405807942	CV3265734	single nucleotide variant	NM_001144.6(AMFR):c.1000C>A (p.Leu334Met)	not specified [RCV004406805]	uncertain significance	16	56401818	56401818	Human		name
405807962	CV3265744	single nucleotide variant	NM_001144.6(AMFR):c.1153G>A (p.Ala385Thr)	not specified [RCV004406815]	uncertain significance	16	56389308	56389308	Human		name
405807974	CV3265750	single nucleotide variant	NM_001144.6(AMFR):c.1165C>T (p.Arg389Cys)	not specified [RCV004406821]	uncertain significance	16	56389296	56389296	Human		name
405807981	CV3265753	single nucleotide variant	NM_001144.6(AMFR):c.1219G>C (p.Ala407Pro)	not specified [RCV004406824]	uncertain significance	16	56389242	56389242	Human		name
405807992	CV3265759	single nucleotide variant	NM_001144.6(AMFR):c.1345A>T (p.Ile449Phe)	not specified [RCV004406830]	uncertain significance	16	56385954	56385954	Human		name
405808126	CV3265786	single nucleotide variant	NM_001144.6(AMFR):c.1817C>T (p.Ala606Val)	not specified [RCV004406857]	uncertain significance	16	56363024	56363024	Human		name
407426664	CV3411464	single nucleotide variant	NM_001144.6(AMFR):c.1092T>A (p.Cys364Ter)	not provided [RCV004590642]	pathogenic	16	56389369	56389369	Human		name
597797391	CV3700997	single nucleotide variant	NM_001144.6(AMFR):c.1643C>T (p.Thr548Met)	not specified [RCV004935787]	uncertain significance	16	56364062	56364062	Human		name
597797396	CV3701003	single nucleotide variant	NM_001144.6(AMFR):c.1385A>T (p.His462Leu)	not specified [RCV004935789]	uncertain significance	16	56369323	56369323	Human		name
597797399	CV3701006	single nucleotide variant	NM_001144.6(AMFR):c.1700G>T (p.Arg567Leu)	not specified [RCV004935790]	uncertain significance	16	56364005	56364005	Human		name
597797405	CV3701021	single nucleotide variant	NM_001144.6(AMFR):c.1138A>C (p.Met380Leu)	not specified [RCV004935792]	uncertain significance	16	56389323	56389323	Human		name
597797411	CV3701032	single nucleotide variant	NM_001144.6(AMFR):c.1490G>A (p.Arg497Gln)	not specified [RCV004935794]	uncertain significance	16	56369218	56369218	Human		name
598194172	CV3969011	single nucleotide variant	NM_001144.6(AMFR):c.1336A>G (p.Ile446Val)	not specified [RCV005354787]	uncertain significance	16	56385963	56385963	Human		name
598221688	CV3969022	single nucleotide variant	NM_001144.6(AMFR):c.1141T>C (p.Ser381Pro)	not specified [RCV005340631]	uncertain significance	16	56389320	56389320	Human		name
598221700	CV3969033	single nucleotide variant	NM_001144.6(AMFR):c.1852T>G (p.Ser618Ala)	not specified [RCV005340633]	uncertain significance	16	56362989	56362989	Human		name
14978305	CV677376	single nucleotide variant	NM_001144.6(AMFR):c.1166G>A (p.Arg389His)	Marfanoid habitus and intellectual disability [RCV000850434]\|not provided [RCV004693410]	uncertain significance	16	56389295	56389295	Human	1	name
329951935	CV2668095	duplication	NM_001144.6(AMFR):c.871_874dup (p.Leu292fs)	Spastic paraplegia 89, autosomal recessive [RCV003229581]	pathogenic	16	56403084	56403085	Human	1	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