Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)

58 records found for search term Actl7a
Refine Term:
Assembly:
    Chr  
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405722098CV3292836single nucleotide variantNM_006687.4(ACTL7A):c.41C>T (p.Thr14Ile)not specified [RCV004428277]uncertain significance9108862363108862363Humanname
405722489CV3292886single nucleotide variantNM_006687.4(ACTL7A):c.80C>A (p.Ala27Asp)not specified [RCV004428327]uncertain significance9108862402108862402Humanname
156386599CV2225143single nucleotide variantNM_006687.4(ACTL7A):c.296T>G (p.Val99Gly)not specified [RCV004094950]uncertain significance9108862618108862618Humanname
156073953CV2281407single nucleotide variantNM_006687.4(ACTL7A):c.103G>A (p.Asp35Asn)not specified [RCV004153744]uncertain significance9108862425108862425Humanname
156284720CV2289001single nucleotide variantNM_006687.4(ACTL7A):c.241T>C (p.Cys81Arg)not specified [RCV004149953]uncertain significance9108862563108862563Humanname
156343527CV2364125single nucleotide variantNM_006687.4(ACTL7A):c.124G>A (p.Val42Met)not specified [RCV004221501]uncertain significance9108862446108862446Humanname
401751768CV2702899single nucleotide variantNM_006687.4(ACTL7A):c.257C>G (p.Ala86Gly)not specified [RCV004321237]uncertain significance9108862579108862579Humanname
401829587CV2742893single nucleotide variantNM_006687.4(ACTL7A):c.146C>G (p.Ser49Ter)Spermatogenic failure 86 [RCV003325425]pathogenic9108862468108862468Human1name
405721982CV3292821single nucleotide variantNM_006687.4(ACTL7A):c.188G>T (p.Arg63Met)not specified [RCV004428262]uncertain significance9108862510108862510Humanname
597793803CV3640650single nucleotide variantNM_006687.4(ACTL7A):c.1161G>A (p.Pro387=)not specified [RCV004903110]likely benign9108863483108863483Humanname
598211157CV3939216single nucleotide variantNM_006687.4(ACTL7A):c.152C>G (p.Pro51Arg)not specified [RCV005315969]uncertain significance9108862474108862474Humanname
598175604CV3949763single nucleotide variantNM_006687.4(ACTL7A):c.100A>T (p.Arg34Trp)not specified [RCV005309877]uncertain significance9108862422108862422Humanname
598175665CV3949773single nucleotide variantNM_006687.4(ACTL7A):c.158A>G (p.Glu53Gly)not specified [RCV005309885]uncertain significance9108862480108862480Humanname
156251076CV2273367single nucleotide variantNM_006687.4(ACTL7A):c.866A>G (p.Glu289Gly)not specified [RCV004132140]uncertain significance9108863188108863188Humanname
156171535CV2312586single nucleotide variantNM_006687.4(ACTL7A):c.883A>G (p.Ser295Gly)not specified [RCV004169326]uncertain significance9108863205108863205Humanname
155966319CV2329787single nucleotide variantNM_006687.4(ACTL7A):c.607C>T (p.Arg203Cys)not specified [RCV004183254]uncertain significance9108862929108862929Humanname
156326444CV2331949single nucleotide variantNM_006687.4(ACTL7A):c.569C>A (p.Ala190Asp)not specified [RCV004187010]uncertain significance9108862891108862891Humanname
156197984CV2334445single nucleotide variantNM_006687.4(ACTL7A):c.379G>A (p.Val127Ile)not specified [RCV004188418]uncertain significance9108862701108862701Humanname
155983278CV2347976single nucleotide variantNM_006687.4(ACTL7A):c.484C>T (p.Pro162Ser)not specified [RCV004197663]uncertain significance9108862806108862806Humanname
156345541CV2356273single nucleotide variantNM_006687.4(ACTL7A):c.891T>G (p.His297Gln)not specified [RCV004206083]uncertain significance9108863213108863213Humanname
156141259CV2358391single nucleotide variantNM_006687.4(ACTL7A):c.336T>G (p.Asn112Lys)not specified [RCV004207286]uncertain significance9108862658108862658Humanname
156190317CV2384972single nucleotide variantNM_006687.4(ACTL7A):c.961A>T (p.Met321Leu)not specified [RCV004226200]uncertain significance9108863283108863283Humanname
329382036CV2438365single nucleotide variantNM_006687.4(ACTL7A):c.497C>A (p.Ala166Glu)not specified [RCV004259527]uncertain significance9108862819108862819Humanname
329373553CV2439342single nucleotide variantNM_006687.4(ACTL7A):c.515C>T (p.Pro172Leu)not specified [RCV004249645]uncertain significance9108862837108862837Humanname
401743993CV2684828single nucleotide variantNM_006687.4(ACTL7A):c.691G>A (p.Glu231Lys)not specified [RCV004293900]uncertain significance9108863013108863013Humanname
401829583CV2742890single nucleotide variantNM_006687.4(ACTL7A):c.733G>A (p.Ala245Thr)Spermatogenic failure 86 [RCV003325422]pathogenic9108863055108863055Human1name
401829584CV2742891single nucleotide variantNM_006687.4(ACTL7A):c.463C>T (p.Arg155Ter)Spermatogenic failure 86 [RCV003325423]pathogenic9108862785108862785Human1name
401829588CV2742894single nucleotide variantNM_006687.4(ACTL7A):c.737G>C (p.Gly246Ala)Spermatogenic failure 86 [RCV003325426]pathogenic9108863059108863059Human1name
401877898CV2757678single nucleotide variantNM_006687.4(ACTL7A):c.421G>A (p.Val141Met)not specified [RCV004334787]uncertain significance9108862743108862743Humanname
405722087CV3292835single nucleotide variantNM_006687.4(ACTL7A):c.383A>G (p.His128Arg)not specified [RCV004428276]likely benign9108862705108862705Humanname
405722168CV3292845single nucleotide variantNM_006687.4(ACTL7A):c.464G>A (p.Arg155Gln)not specified [RCV004428286]uncertain significance9108862786108862786Humanname
405722270CV3292858single nucleotide variantNM_006687.4(ACTL7A):c.586A>G (p.Met196Val)not specified [RCV004428299]uncertain significance9108862908108862908Humanname
405722327CV3292865single nucleotide variantNM_006687.4(ACTL7A):c.667G>A (p.Val223Met)not specified [RCV004428306]uncertain significance9108862989108862989Humanname
405722364CV3292870single nucleotide variantNM_006687.4(ACTL7A):c.718G>A (p.Gly240Arg)not specified [RCV004428311]uncertain significance9108863040108863040Humanname
405722403CV3292875single nucleotide variantNM_006687.4(ACTL7A):c.769C>A (p.Leu257Met)not specified [RCV004428316]likely benign9108863091108863091Humanname
405722456CV3292882single nucleotide variantNM_006687.4(ACTL7A):c.787G>A (p.Glu263Lys)not specified [RCV004428323]uncertain significance9108863109108863109Humanname
405722481CV3292885single nucleotide variantNM_006687.4(ACTL7A):c.808G>T (p.Gly270Cys)not specified [RCV004428326]uncertain significance9108863130108863130Humanname
407483312CV3418225single nucleotide variantNM_006687.4(ACTL7A):c.580C>G (p.Pro194Ala)not specified [RCV004602830]uncertain significance9108862902108862902Humanname
407483391CV3418237single nucleotide variantNM_006687.4(ACTL7A):c.307T>C (p.Tyr103His)not specified [RCV004602842]uncertain significance9108862629108862629Humanname
407483489CV3418255single nucleotide variantNM_006687.4(ACTL7A):c.337C>T (p.Arg113Cys)not specified [RCV004602858]uncertain significance9108862659108862659Humanname
407483521CV3418266single nucleotide variantNM_006687.4(ACTL7A):c.944G>A (p.Arg315Gln)not specified [RCV004602866]uncertain significance9108863266108863266Humanname
597793746CV3640623single nucleotide variantNM_006687.4(ACTL7A):c.860T>C (p.Ile287Thr)not specified [RCV004903090]likely benign9108863182108863182Humanname
597793794CV3640644single nucleotide variantNM_006687.4(ACTL7A):c.434C>T (p.Thr145Ile)not specified [RCV004903107]uncertain significance9108862756108862756Humanname
597793824CV3640658single nucleotide variantNM_006687.4(ACTL7A):c.446T>A (p.Ile149Asn)not specified [RCV004903117]uncertain significance9108862768108862768Humanname
597750330CV3640679single nucleotide variantNM_006687.4(ACTL7A):c.616A>G (p.Met206Val)not specified [RCV004892561]uncertain significance9108862938108862938Humanname
598175503CV3939226single nucleotide variantNM_006687.4(ACTL7A):c.772A>T (p.Asn258Tyr)not specified [RCV005309862]uncertain significance9108863094108863094Humanname
598175565CV3949754single nucleotide variantNM_006687.4(ACTL7A):c.723G>C (p.Arg241Ser)not specified [RCV005309871]uncertain significance9108863045108863045Humanname
156079654CV2300939single nucleotide variantNM_006687.4(ACTL7A):c.1249G>A (p.Val417Ile)not specified [RCV004158125]uncertain significance9108863571108863571Humanname
156049471CV2319309single nucleotide variantNM_006687.4(ACTL7A):c.1087G>A (p.Gly363Ser)not specified [RCV004180135]uncertain significance9108863409108863409Humanname
156137443CV2375756single nucleotide variantNM_006687.4(ACTL7A):c.1147C>T (p.Pro383Ser)not specified [RCV004224349]uncertain significance9108863469108863469Humanname
156152192CV2394832single nucleotide variantNM_006687.4(ACTL7A):c.1183A>G (p.Arg395Gly)not specified [RCV004234494]uncertain significance9108863505108863505Humanname
401829585CV2742892single nucleotide variantNM_006687.4(ACTL7A):c.1084G>A (p.Gly362Arg)Spermatogenic failure 86 [RCV003325424]pathogenic9108863406108863406Human1name
407483564CV3418277single nucleotide variantNM_006687.4(ACTL7A):c.1010C>A (p.Thr337Asn)not specified [RCV004602875]uncertain significance9108863332108863332Humanname
596928244CV3541341single nucleotide variantNM_006687.4(ACTL7A):c.1204G>A (p.Gly402Ser)Spermatogenic failure 86 [RCV004797212]likely pathogenic9108863526108863526Human1name
597793766CV3640633single nucleotide variantNM_006687.4(ACTL7A):c.1256G>A (p.Arg419His)not specified [RCV004903097]uncertain significance9108863578108863578Humanname
597793843CV3640669single nucleotide variantNM_006687.4(ACTL7A):c.1142T>C (p.Met381Thr)not specified [RCV004903124]uncertain significance9108863464108863464Humanname
597793892CV3640688single nucleotide variantNM_006687.4(ACTL7A):c.1145G>A (p.Cys382Tyr)not specified [RCV004903140]uncertain significance9108863467108863467Humanname
151741739CV1335525microsatelliteNM_006687.4(ACTL7A):c.149_150del (p.Glu50fs)Male infertility with normal semen parameters [RCV001845046]pathogenic9108862469108862470Humanname