Pdxk Variant Search Result - Rat Genome Database

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64 records found for search term Pdxk

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405282307	CV3212222	single nucleotide variant	NM_003681.5(PDXK):c.*8G>A	PDXK-related disorder [RCV003956884]	benign	21	43756071	43756071	Human		name , trait , alternate_id
150507067	CV1256839	single nucleotide variant	NM_003681.5(PDXK):c.*14T>C	Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy [RCV001788751]\|not provided [RCV001678342]	benign	21	43756077	43756077	Human	1	name
150478055	CV1240129	single nucleotide variant	NM_003681.5(PDXK):c.-163A>G	not provided [RCV001652307]	benign	21	43719132	43719132	Human		name
150434078	CV1230698	single nucleotide variant	NM_003681.5(PDXK):c.760-8C>A	PDXK-related disorder [RCV003980837]\|not provided [RCV001643644]	benign	21	43755690	43755690	Human	1	name , trait , alternate_id
408365982	CV3511904	single nucleotide variant	NM_003681.5(PDXK):c.142+8G>A	PDXK-related disorder [RCV004755384]	likely benign	21	43734131	43734131	Human		name , trait , alternate_id
150445076	CV1233115	single nucleotide variant	NM_003681.5(PDXK):c.331+78G>A	not provided [RCV001645788]	benign	21	43743885	43743885	Human		name
150457571	CV1248804	single nucleotide variant	NM_003681.5(PDXK):c.465-96A>G	not provided [RCV001668980]	benign	21	43750404	43750404	Human		name
150457396	CV1269484	single nucleotide variant	NM_003681.5(PDXK):c.511-20G>A	not provided [RCV001693024]	benign	21	43752498	43752498	Human		name
150448910	CV1275603	single nucleotide variant	NM_003681.5(PDXK):c.88-199A>G	not provided [RCV001708058]	benign	21	43733870	43733870	Human		name
150511504	CV1284710	single nucleotide variant	NM_003681.5(PDXK):c.464+44A>G	not provided [RCV001721579]	benign	21	43749124	43749124	Human		name
151233855	CV1317504	single nucleotide variant	NM_003681.5(PDXK):c.331+26T>G	Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy [RCV001788883]\|not provided [RCV004714330]	benign	21	43743833	43743833	Human	1	name
150335809	CV1165149	single nucleotide variant	NM_003681.5(PDXK):c.760-209G>A	not provided [RCV001530562]	benign	21	43755489	43755489	Human		name
150332373	CV1173412	single nucleotide variant	NM_003681.5(PDXK):c.143-202G>A	not provided [RCV001539004]	benign	21	43741465	43741465	Human		name
150455010	CV1220391	single nucleotide variant	NM_003681.5(PDXK):c.143-116A>G	PDXK-related disorder [RCV003921270]\|not provided [RCV001612484]	benign	21	43741551	43741551	Human	1	name , trait , alternate_id
150490229	CV1239076	single nucleotide variant	NM_003681.5(PDXK):c.142+140C>T	not provided [RCV001654644]	benign	21	43734263	43734263	Human		name
150480817	CV1239657	single nucleotide variant	NM_003681.5(PDXK):c.759+105T>C	not provided [RCV001652820]	benign	21	43753824	43753824	Human		name
150474360	CV1251266	single nucleotide variant	NM_003681.5(PDXK):c.247+198T>C	not provided [RCV001671760]	benign	21	43741969	43741969	Human		name
150469500	CV1259669	single nucleotide variant	NM_003681.5(PDXK):c.623-233C>A	not provided [RCV001683970]	benign	21	43753350	43753350	Human		name
150460954	CV1270589	single nucleotide variant	NM_003681.5(PDXK):c.331+179G>T	not provided [RCV001693579]	benign	21	43743986	43743986	Human		name
150446063	CV1271812	single nucleotide variant	NM_003681.5(PDXK):c.379-167T>C	not provided [RCV001691226]	benign	21	43748828	43748828	Human		name
150463715	CV1276266	single nucleotide variant	NM_003681.5(PDXK):c.622+118G>A	not provided [RCV001710211]	benign	21	43752747	43752747	Human		name
150498203	CV1281848	single nucleotide variant	NM_003681.5(PDXK):c.510+154A>G	not provided [RCV001717976]	benign	21	43750699	43750699	Human		name
405286556	CV3192182	single nucleotide variant	NM_003681.5(PDXK):c.143-115T>C	PDXK-related disorder [RCV003924092]	benign	21	43741552	43741552	Human		name , trait , alternate_id
405288485	CV3197419	single nucleotide variant	NM_003681.5(PDXK):c.143-100C>T	PDXK-related disorder [RCV003982515]	uncertain significance	21	43741567	43741567	Human		name , trait , alternate_id
598129938	CV3887362	single nucleotide variant	NM_003681.5(PDXK):c.143-102T>C	not provided [RCV005245423]	likely benign	21	43741565	43741565	Human		name
150337207	CV1166370	single nucleotide variant	NM_003681.5(PDXK):c.142+3058C>T	not provided [RCV001532459]	likely benign	21	43737181	43737181	Human		name
405872342	CV3398267	single nucleotide variant	NM_003681.5(PDXK):c.142+3165G>A	not provided [RCV004575268]	likely benign	21	43737288	43737288	Human		name
598128369	CV3887573	single nucleotide variant	NM_003681.5(PDXK):c.142+3261C>T	not provided [RCV005243746]	likely benign	21	43737384	43737384	Human		name
150502062	CV1241126	microsatellite	NM_003681.5(PDXK):c.510+189TG[9]	not provided [RCV001657022]	benign	21	43750733	43750734	Human		name
401920270	CV2824809	single nucleotide variant	NM_003681.5(PDXK):c.123C>G (p.Val41=)	not provided [RCV003431526]	likely benign	21	43734104	43734104	Human		name
405294538	CV3208794	single nucleotide variant	NM_003681.5(PDXK):c.255G>A (p.Thr85=)	PDXK-related disorder [RCV003934447]\|not provided [RCV004546834]	likely benign	21	43743731	43743731	Human	1	name , trait , alternate_id
150499012	CV1235661	single nucleotide variant	NM_003681.5(PDXK):c.639C>T (p.Ser213=)	PDXK-related disorder [RCV003921298]\|not provided [RCV001656344]	benign	21	43753599	43753599	Human	1	name , trait , alternate_id
150480123	CV1258373	single nucleotide variant	NM_003681.5(PDXK):c.387G>A (p.Pro129=)	Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy [RCV001788752]\|PDXK-related disorder [RCV003975926]\|not provided [RCV001685792]	benign	21	43749003	43749003	Human	1	name , trait , alternate_id
150457803	CV1269542	deletion	NM_003681.5(PDXK):c.142+171_142+172del	not provided [RCV001693082]	benign	21	43734294	43734295	Human		name
153349153	CV1693819	single nucleotide variant	NM_003681.5(PDXK):c.417A>G (p.Lys139=)	not provided [RCV002275545]	likely benign	21	43749033	43749033	Human		name
401920266	CV2821790	single nucleotide variant	NM_003681.5(PDXK):c.834C>T (p.Ala278=)	PDXK-related disorder [RCV003954173]\|not provided [RCV003431528]	likely benign	21	43755958	43755958	Human	1	name , trait , alternate_id
405272668	CV3221796	single nucleotide variant	NM_003681.5(PDXK):c.426G>A (p.Pro142=)	PDXK-related disorder [RCV003972176]	benign	21	43749042	43749042	Human		name , trait , alternate_id
598260664	CV4002648	single nucleotide variant	NM_003681.5(PDXK):c.34A>T (p.Ser12Cys)	not specified [RCV005386738]	uncertain significance	21	43719328	43719328	Human		name
156112353	CV2228453	single nucleotide variant	NM_003681.5(PDXK):c.289A>G (p.Ile97Val)	not specified [RCV004098422]	uncertain significance	21	43743765	43743765	Human		name
156169932	CV2380540	single nucleotide variant	NM_003681.5(PDXK):c.220A>G (p.Met74Val)	not specified [RCV004224864]	likely benign	21	43741744	43741744	Human		name
401744439	CV2680962	single nucleotide variant	NM_003681.5(PDXK):c.148G>A (p.Ala50Thr)	not specified [RCV004296033]	uncertain significance	21	43741672	43741672	Human		name
401920268	CV2821789	indel	NM_003681.5(PDXK):c.465-15_489delinsGCA	not provided [RCV003431527]	pathogenic	21	43750485	43750524	Human		name
407455787	CV3415745	single nucleotide variant	NM_003681.5(PDXK):c.254C>T (p.Thr85Met)	not provided [RCV004598621]	uncertain significance	21	43743730	43743730	Human		name
597720560	CV3579220	single nucleotide variant	NM_003681.5(PDXK):c.110C>T (p.Ala37Val)	not provided [RCV005412695]\|not specified [RCV004841870]	uncertain significance	21	43734091	43734091	Human		name
597756930	CV3579222	single nucleotide variant	NM_003681.5(PDXK):c.140C>T (p.Thr47Ile)	not specified [RCV004848224]	uncertain significance	21	43734121	43734121	Human		name
598260674	CV4002650	single nucleotide variant	NM_003681.5(PDXK):c.257G>A (p.Arg86Lys)	not specified [RCV005386740]	uncertain significance	21	43743733	43743733	Human		name
21405278	CV800762	single nucleotide variant	NM_003681.5(PDXK):c.225T>A (p.Asn75Lys)	Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy [RCV001003348]	pathogenic\|likely pathogenic	21	43741749	43741749	Human	1	name
126735715	CV1001183	single nucleotide variant	NM_003681.5(PDXK):c.374C>T (p.Ser125Leu)	Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy [RCV002476439]\|not provided [RCV001311575]	likely benign	21	43746121	43746121	Human	1	name
150337209	CV1166371	single nucleotide variant	NM_003681.5(PDXK):c.631G>A (p.Ala211Thr)	not provided [RCV001532460]\|not specified [RCV004039230]	uncertain significance	21	43753591	43753591	Human		name
156169636	CV2197808	single nucleotide variant	NM_003681.5(PDXK):c.643G>A (p.Val215Met)	not specified [RCV004077047]	uncertain significance	21	43753603	43753603	Human		name
155915492	CV2339140	single nucleotide variant	NM_003681.5(PDXK):c.842G>A (p.Gly281Glu)	Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy [RCV005399196]\|not specified [RCV004187180]	uncertain significance	21	43755966	43755966	Human	1	name
155922849	CV2340695	single nucleotide variant	NM_003681.5(PDXK):c.875G>A (p.Arg292Gln)	not specified [RCV004190366]	uncertain significance	21	43755999	43755999	Human		name
156156713	CV2397898	single nucleotide variant	NM_003681.5(PDXK):c.377T>C (p.Met126Thr)	not provided [RCV005242370]\|not specified [RCV004239723]	uncertain significance	21	43746124	43746124	Human		name
243055129	CV2405955	single nucleotide variant	NM_003681.5(PDXK):c.509G>A (p.Arg170Gln)	Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy [RCV003131898]	uncertain significance	21	43750544	43750544	Human	1	name
401759599	CV2712584	single nucleotide variant	NM_003681.5(PDXK):c.407A>G (p.Tyr136Cys)	not specified [RCV004307915]	uncertain significance	21	43749023	43749023	Human		name
405695544	CV3226645	single nucleotide variant	NM_003681.5(PDXK):c.827C>T (p.Ala276Val)	not provided [RCV003993038]	uncertain significance	21	43755951	43755951	Human		name
405789481	CV3372080	single nucleotide variant	NM_003681.5(PDXK):c.547G>A (p.Val183Met)	not specified [RCV004505499]	uncertain significance	21	43752554	43752554	Human		name
405789484	CV3372081	single nucleotide variant	NM_003681.5(PDXK):c.638C>G (p.Ser213Cys)	not specified [RCV004505500]	uncertain significance	21	43753598	43753598	Human		name
597720570	CV3579221	single nucleotide variant	NM_003681.5(PDXK):c.841G>C (p.Gly281Arg)	not specified [RCV004841871]	uncertain significance	21	43755965	43755965	Human		name
597756935	CV3579223	single nucleotide variant	NM_003681.5(PDXK):c.443C>T (p.Thr148Met)	not specified [RCV004848225]	uncertain significance	21	43749059	43749059	Human		name
597720578	CV3579224	single nucleotide variant	NM_003681.5(PDXK):c.386C>T (p.Pro129Leu)	not specified [RCV004841872]	uncertain significance	21	43749002	43749002	Human		name
598260669	CV4002649	single nucleotide variant	NM_003681.5(PDXK):c.877A>C (p.Met293Leu)	not specified [RCV005386739]	uncertain significance	21	43756001	43756001	Human		name
14698226	CV624076	single nucleotide variant	NM_003681.5(PDXK):c.682G>A (p.Ala228Thr)	Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy [RCV000788038]\|PDXK-related disorder [RCV003396366]	pathogenic	21	43753642	43753642	Human	1	name , trait , alternate_id
14698228	CV624077	single nucleotide variant	NM_003681.5(PDXK):c.659G>A (p.Arg220Gln)	Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy [RCV000788039]	pathogenic	21	43753619	43753619	Human	1	name

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