Tmlhe Variant Search Result - Rat Genome Database

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61 records found for search term Tmlhe

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150529838	CV1289207	deletion	NM_018196.4(TMLHE):c.638+2del	Epsilon-trimethyllysine hydroxylase deficiency [RCV001728047]	likely pathogenic	X	155513984	155513984	Human	1	name
596925051	CV3541800	single nucleotide variant	NM_018196.4(TMLHE):c.995+2T>C	Epsilon-trimethyllysine hydroxylase deficiency [RCV004795511]	uncertain significance	X	155506896	155506896	Human	1	name
12742501	CV360564	single nucleotide variant	NM_018196.4(TMLHE):c.359-2A>G	Epsilon-trimethyllysine hydroxylase deficiency [RCV003233630]\|not provided [RCV000413806]\|not specified [RCV002248646]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	X	155514267	155514267	Human	1	name
11633369	CV264959	single nucleotide variant	NM_018196.4(TMLHE):c.5G>A (p.Trp2Ter)	not provided [RCV000334845]	pathogenic\|uncertain significance	X	155545272	155545272	Human		name
25318965	CV816500	single nucleotide variant	NM_018196.4(TMLHE):c.6G>T (p.Trp2Cys)	Epsilon-trimethyllysine hydroxylase deficiency [RCV001028005]	uncertain significance	X	155545271	155545271	Human	1	name
126733591	CV1001247	single nucleotide variant	NM_018196.4(TMLHE):c.331C>T (p.Leu111=)	not provided [RCV001311120]	likely benign	X	155524483	155524483	Human		name
151663737	CV1334203	deletion	NM_018196.4(TMLHE):c.638+83_995+2127del	Epsilon-trimethyllysine hydroxylase deficiency [RCV001839377]	uncertain significance	X	155504771	155513903	Human	1	name
156451138	CV2402515	single nucleotide variant	NM_018196.4(TMLHE):c.693C>T (p.Asp231=)	not provided [RCV003123318]	uncertain significance	X	155511738	155511738	Human		name
401751092	CV2712385	single nucleotide variant	NM_018196.4(TMLHE):c.67T>C (p.Tyr23His)	not specified [RCV004313863]	uncertain significance	X	155545210	155545210	Human		name
405271197	CV3209347	single nucleotide variant	NM_018196.4(TMLHE):c.492G>A (p.Ser164=)	TMLHE-related disorder [RCV003949688]	likely benign	X	155514132	155514132	Human		name , trait , alternate_id
405272543	CV3210070	single nucleotide variant	NM_018196.4(TMLHE):c.522C>T (p.Asn174=)	TMLHE-related disorder [RCV003914320]	likely benign	X	155514102	155514102	Human		name , trait , alternate_id
405283128	CV3218435	single nucleotide variant	NM_018196.4(TMLHE):c.963C>T (p.Ile321=)	TMLHE-related disorder [RCV003957237]	likely benign	X	155506930	155506930	Human		name , trait , alternate_id
405773081	CV3343405	single nucleotide variant	NM_018196.4(TMLHE):c.58G>A (p.Gly20Arg)	not specified [RCV004470632]	likely benign	X	155545219	155545219	Human		name
15111312	CV729521	single nucleotide variant	NM_018196.4(TMLHE):c.573C>T (p.Phe191=)	not provided [RCV000894243]	benign	X	155514051	155514051	Human		name
15163191	CV758404	single nucleotide variant	NM_018196.4(TMLHE):c.798T>C (p.Gly266=)	not provided [RCV000926067]	likely benign	X	155507095	155507095	Human		name
15116814	CV773931	single nucleotide variant	NM_018196.4(TMLHE):c.669C>T (p.Phe223=)	not provided [RCV000939726]	likely benign	X	155511762	155511762	Human		name
21075244	CV798238	single nucleotide variant	NM_018196.4(TMLHE):c.85C>G (p.Pro29Ala)	not provided [RCV000996084]\|not specified [RCV004877693]	uncertain significance	X	155545192	155545192	Human		name
150516545	CV1287412	single nucleotide variant	NM_018196.4(TMLHE):c.230G>A (p.Arg77Gln)	not provided [RCV001723391]	uncertain significance	X	155524584	155524584	Human		name
151235487	CV1318812	single nucleotide variant	NM_018196.4(TMLHE):c.248C>T (p.Ala83Val)	not provided [RCV001795630]\|not specified [RCV003479352]	likely benign\|uncertain significance	X	155524566	155524566	Human		name
152982251	CV1677200	single nucleotide variant	NM_018196.4(TMLHE):c.158G>A (p.Trp53Ter)	not specified [RCV002248905]	uncertain significance	X	155545119	155545119	Human		name
156070722	CV2267182	single nucleotide variant	NM_018196.4(TMLHE):c.172G>A (p.Asp58Asn)	not specified [RCV004133870]	uncertain significance	X	155545105	155545105	Human		name
11075158	CV227142	single nucleotide variant	NM_018196.4(TMLHE):c.229C>T (p.Arg77Ter)	Epsilon-trimethyllysine hydroxylase deficiency [RCV000210875]\|Intellectual disability [RCV001260784]\|not provided [RCV000256080]	pathogenic\|risk factor\|uncertain significance	X	155524585	155524585	Human	3	name
401717620	CV2703929	single nucleotide variant	NM_018196.4(TMLHE):c.149C>A (p.Thr50Asn)	not specified [RCV004308827]	likely benign	X	155545128	155545128	Human		name
405262411	CV3189275	single nucleotide variant	NM_018196.4(TMLHE):c.241C>T (p.Arg81Cys)	TMLHE-related disorder [RCV003896509]	uncertain significance	X	155524573	155524573	Human		name , trait , alternate_id
598228155	CV3894596	single nucleotide variant	NM_018196.4(TMLHE):c.263C>T (p.Ser88Phe)	not provided [RCV005257840]	uncertain significance	X	155524551	155524551	Human		name
14689533	CV621035	single nucleotide variant	NM_018196.4(TMLHE):c.277C>T (p.Arg93Cys)	Congenital cerebellar hypoplasia [RCV001258013]\|Corpus callosum, agenesis of [RCV000779662]	likely pathogenic	X	155524537	155524537	Human	4	name
34896077	CV917366	single nucleotide variant	NM_018196.4(TMLHE):c.113C>T (p.Ala38Val)	not specified [RCV001193348]	uncertain significance	X	155545164	155545164	Human		name
40815276	CV971194	single nucleotide variant	NM_018196.4(TMLHE):c.278G>A (p.Arg93His)	Epsilon-trimethyllysine hydroxylase deficiency [RCV001262579]\|not provided [RCV001529472]\|not specified [RCV004035397]	uncertain significance	X	155524536	155524536	Human	1	name
150524349	CV1289082	single nucleotide variant	NM_018196.4(TMLHE):c.698C>T (p.Ala233Val)	not provided [RCV001725846]	uncertain significance	X	155511733	155511733	Human		name
153000949	CV1683973	single nucleotide variant	NM_018196.4(TMLHE):c.491C>T (p.Ser164Leu)	Epsilon-trimethyllysine hydroxylase deficiency [RCV002254829]	uncertain significance	X	155514133	155514133	Human	1	name
155643696	CV1708051	single nucleotide variant	NM_018196.4(TMLHE):c.523G>A (p.Glu175Lys)	Epsilon-trimethyllysine hydroxylase deficiency [RCV002289512]\|not specified [RCV004877735]	uncertain significance	X	155514101	155514101	Human	1	name
156338267	CV2271247	single nucleotide variant	NM_018196.4(TMLHE):c.629G>A (p.Ser210Asn)	not specified [RCV004136393]	uncertain significance	X	155513995	155513995	Human		name
11075213	CV227143	single nucleotide variant	NM_018196.4(TMLHE):c.730G>C (p.Asp244His)	Epsilon-trimethyllysine hydroxylase deficiency [RCV000210882]	risk factor	X	155511701	155511701	Human	1	name
156035178	CV2338870	single nucleotide variant	NM_018196.4(TMLHE):c.560A>G (p.Tyr187Cys)	not specified [RCV004184465]	uncertain significance	X	155514064	155514064	Human		name
329372836	CV2451682	single nucleotide variant	NM_018196.4(TMLHE):c.830C>T (p.Ala277Val)	not specified [RCV004274597]	uncertain significance	X	155507063	155507063	Human		name
401892974	CV2791882	single nucleotide variant	NM_018196.4(TMLHE):c.328C>A (p.Arg110Ser)	not specified [RCV004359319]	uncertain significance	X	155524486	155524486	Human		name
401923216	CV2796713	single nucleotide variant	NM_018196.4(TMLHE):c.671C>T (p.Thr224Ile)	TMLHE-related disorder [RCV003404332]	uncertain significance	X	155511760	155511760	Human		name , trait , alternate_id
401925848	CV2821775	single nucleotide variant	NM_018196.4(TMLHE):c.722G>A (p.Arg241Gln)	not provided [RCV003436908]	likely benign	X	155511709	155511709	Human		name
404994880	CV2851275	single nucleotide variant	NM_018196.4(TMLHE):c.706A>T (p.Lys236Ter)	not provided [RCV003491674]	uncertain significance	X	155511725	155511725	Human		name
405773086	CV3343406	single nucleotide variant	NM_018196.4(TMLHE):c.839A>G (p.Gln280Arg)	not specified [RCV004470633]	uncertain significance	X	155507054	155507054	Human		name
405773092	CV3343407	single nucleotide variant	NM_018196.4(TMLHE):c.840G>T (p.Gln280His)	not specified [RCV004470634]	uncertain significance	X	155507053	155507053	Human		name
405873170	CV3398434	single nucleotide variant	NM_018196.4(TMLHE):c.590C>A (p.Pro197His)	not provided [RCV004575930]	uncertain significance	X	155514034	155514034	Human		name
407527126	CV3482911	single nucleotide variant	NM_018196.4(TMLHE):c.730G>A (p.Asp244Asn)	not specified [RCV004679890]	uncertain significance	X	155511701	155511701	Human		name
407527130	CV3482912	single nucleotide variant	NM_018196.4(TMLHE):c.938T>C (p.Ile313Thr)	not specified [RCV004679891]	uncertain significance	X	155506955	155506955	Human		name
597800895	CV3610823	single nucleotide variant	NM_018196.4(TMLHE):c.448A>T (p.Ile150Leu)	not specified [RCV004880443]	uncertain significance	X	155514176	155514176	Human		name
597800897	CV3610824	single nucleotide variant	NM_018196.4(TMLHE):c.655A>G (p.Arg219Gly)	not specified [RCV004880444]	uncertain significance	X	155511776	155511776	Human		name
597800899	CV3610825	single nucleotide variant	NM_018196.4(TMLHE):c.848A>C (p.Gln283Pro)	not specified [RCV004880445]	uncertain significance	X	155507045	155507045	Human		name
598122176	CV3884244	single nucleotide variant	NM_018196.4(TMLHE):c.905T>C (p.Ile302Thr)	not specified [RCV005236934]	uncertain significance	X	155506988	155506988	Human		name
598252871	CV3914133	single nucleotide variant	NM_018196.4(TMLHE):c.451C>G (p.Leu151Val)	not specified [RCV005278155]	uncertain significance	X	155514173	155514173	Human		name
13487821	CV446596	single nucleotide variant	NM_018196.4(TMLHE):c.794C>T (p.Thr265Ile)	Epsilon-trimethyllysine hydroxylase deficiency [RCV000844987]\|not provided [RCV000523359]	uncertain significance\|not provided	X	155507099	155507099	Human	1	name
13530023	CV508615	single nucleotide variant	NM_018196.4(TMLHE):c.704C>A (p.Thr235Asn)	TMLHE-related disorder [RCV003945470]\|not provided [RCV004704110]\|not specified [RCV000605957]	benign\|likely benign	X	155511727	155511727	Human	1	name , trait , alternate_id
150535535	CV1309087	single nucleotide variant	NM_018196.4(TMLHE):c.1195C>T (p.Gln399Ter)	not provided [RCV001759294]	uncertain significance	X	155491606	155491606	Human		name
11075156	CV227144	single nucleotide variant	NM_018196.4(TMLHE):c.1107G>T (p.Glu369Asp)	Epsilon-trimethyllysine hydroxylase deficiency [RCV000210869]\|not specified [RCV002247640]	risk factor\|uncertain significance	X	155492384	155492384	Human	1	name
156251704	CV2286876	single nucleotide variant	NM_018196.4(TMLHE):c.1235A>G (p.Asn412Ser)	not specified [RCV004142674]	uncertain significance	X	155491566	155491566	Human		name
329395577	CV2458477	single nucleotide variant	NM_018196.4(TMLHE):c.1178G>A (p.Cys393Tyr)	not specified [RCV004267886]	uncertain significance	X	155491623	155491623	Human		name
407527122	CV3482910	single nucleotide variant	NM_018196.4(TMLHE):c.1157G>A (p.Arg386His)	not specified [RCV004679889]	uncertain significance	X	155491644	155491644	Human		name
597800901	CV3610826	single nucleotide variant	NM_018196.4(TMLHE):c.1174G>C (p.Glu392Gln)	not specified [RCV004880446]	uncertain significance	X	155491627	155491627	Human		name
598227961	CV3914132	single nucleotide variant	NM_018196.4(TMLHE):c.1193G>A (p.Arg398His)	not specified [RCV005294669]	uncertain significance	X	155491608	155491608	Human		name
598227966	CV3914134	single nucleotide variant	NM_018196.4(TMLHE):c.1184C>T (p.Thr395Ile)	not specified [RCV005294670]	uncertain significance	X	155491617	155491617	Human		name
598227973	CV3914135	single nucleotide variant	NM_018196.4(TMLHE):c.1243C>T (p.Arg415Cys)	not specified [RCV005294671]	uncertain significance	X	155491558	155491558	Human		name
11075193	CV227145	microsatellite	NM_018196.4(TMLHE):c.961_962del (p.Ile321fs)	Epsilon-trimethyllysine hydroxylase deficiency [RCV000210877]	pathogenic\|risk factor	X	155506931	155506932	Human		name

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