Kpna3 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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36 records found for search term Kpna3

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
408367565	CV3507202	single nucleotide variant	NM_002267.4(KPNA3):c.70-9C>G	KPNA3-related condition [RCV004758959]	benign	13	49747002	49747002	Human		name , trait
596925984	CV3530653	single nucleotide variant	NM_002267.4(KPNA3):c.469+1G>A	not provided [RCV004778238]	uncertain significance	13	49725415	49725415	Human		name
155972887	CV2320875	single nucleotide variant	NM_002267.4(KPNA3):c.17G>C (p.Ser6Thr)	Inborn genetic diseases [RCV002907088]	uncertain significance	13	49792490	49792490	Human	1	name
401733777	CV2682639	single nucleotide variant	NM_002267.4(KPNA3):c.68A>C (p.Glu23Ala)	Inborn genetic diseases [RCV003249292]	uncertain significance	13	49792439	49792439	Human	1	name
401901903	CV2813903	single nucleotide variant	NM_002267.4(KPNA3):c.945C>T (p.Thr315=)	not provided [RCV003393317]	likely benign	13	49709659	49709659	Human		name
408389641	CV3524708	deletion	NM_002267.4(KPNA3):c.180del (p.Asp61fs)	not provided [RCV004769603]	uncertain significance	13	49732981	49732981	Human		name
407499503	CV3448843	single nucleotide variant	NM_002267.4(KPNA3):c.159A>C (p.Gln53His)	Inborn genetic diseases [RCV004644345]	uncertain significance	13	49733002	49733002	Human	1	name
408392880	CV3528236	single nucleotide variant	NM_002267.4(KPNA3):c.217C>G (p.Leu73Val)	not provided [RCV004776004]	uncertain significance	13	49732764	49732764	Human		name
155741873	CV1770786	single nucleotide variant	NM_002267.4(KPNA3):c.944C>T (p.Thr315Ile)	Spastic paraplegia 88, autosomal dominant [RCV002302859]\|not provided [RCV003992626]	pathogenic\|likely pathogenic	13	49709660	49709660	Human	1	name
155741876	CV1770788	single nucleotide variant	NM_002267.4(KPNA3):c.983T>C (p.Leu328Pro)	Spastic paraplegia 88, autosomal dominant [RCV002302861]	pathogenic	13	49709621	49709621	Human	1	name
155951674	CV1936105	single nucleotide variant	NM_002267.4(KPNA3):c.656A>G (p.Asn219Ser)	not provided [RCV002511758]	likely pathogenic	13	49722025	49722025	Human		name
156133271	CV2382915	single nucleotide variant	NM_002267.4(KPNA3):c.500G>A (p.Arg167His)	Inborn genetic diseases [RCV002708603]	likely benign	13	49722533	49722533	Human	1	name
401901904	CV2813904	single nucleotide variant	NM_002267.4(KPNA3):c.362A>G (p.Lys121Arg)	not provided [RCV003393318]	benign	13	49732392	49732392	Human		name
405700383	CV3227300	single nucleotide variant	NM_002267.4(KPNA3):c.465G>T (p.Gln155His)	Spastic paraplegia 88, autosomal dominant [RCV003993652]	uncertain significance	13	49725420	49725420	Human	1	name
405817035	CV3272799	single nucleotide variant	NM_002267.4(KPNA3):c.404C>A (p.Ala135Asp)	Inborn genetic diseases [RCV004412044]	uncertain significance	13	49725481	49725481	Human	1	name
405817036	CV3272800	single nucleotide variant	NM_002267.4(KPNA3):c.696T>A (p.Asp232Glu)	Inborn genetic diseases [RCV004412045]	uncertain significance	13	49721985	49721985	Human	1	name
407499495	CV3448840	single nucleotide variant	NM_002267.4(KPNA3):c.605A>G (p.Lys202Arg)	Inborn genetic diseases [RCV004644342]	uncertain significance	13	49722076	49722076	Human	1	name
407499497	CV3448841	single nucleotide variant	NM_002267.4(KPNA3):c.626G>A (p.Ser209Asn)	Inborn genetic diseases [RCV004644343]	likely benign	13	49722055	49722055	Human	1	name
407499500	CV3448842	single nucleotide variant	NM_002267.4(KPNA3):c.926G>A (p.Gly309Asp)	Inborn genetic diseases [RCV004644344]	uncertain significance	13	49709678	49709678	Human	1	name
596923372	CV3530356	single nucleotide variant	NM_002267.4(KPNA3):c.832C>G (p.Gln278Glu)	not provided [RCV004776955]	uncertain significance	13	49710962	49710962	Human		name
596928892	CV3541667	single nucleotide variant	NM_002267.4(KPNA3):c.368T>G (p.Leu123Arg)	Spastic paraplegia 88, autosomal dominant [RCV004797541]	uncertain significance	13	49732386	49732386	Human	1	name
598183723	CV3984086	single nucleotide variant	NM_002267.4(KPNA3):c.382A>C (p.Asn128His)	Inborn genetic diseases [RCV005352949]	uncertain significance	13	49732372	49732372	Human	1	name
598183728	CV3984087	single nucleotide variant	NM_002267.4(KPNA3):c.716C>T (p.Thr239Ile)	Inborn genetic diseases [RCV005352950]	uncertain significance	13	49721965	49721965	Human	1	name
155741872	CV1770785	single nucleotide variant	NM_002267.4(KPNA3):c.1001T>G (p.Leu334Arg)	Spastic paraplegia 88, autosomal dominant [RCV002302858]	pathogenic	13	49709603	49709603	Human	1	name
155741875	CV1770787	single nucleotide variant	NM_002267.4(KPNA3):c.1049T>C (p.Leu350Pro)	Spastic paraplegia 88, autosomal dominant [RCV002302860]	pathogenic	13	49706356	49706356	Human	1	name
155741877	CV1770789	single nucleotide variant	NM_002267.4(KPNA3):c.1220T>G (p.Leu407Arg)	Spastic paraplegia 88, autosomal dominant [RCV002302862]	pathogenic	13	49705773	49705773	Human	1	name
155990345	CV2256334	single nucleotide variant	NM_002267.4(KPNA3):c.1463A>C (p.Asp488Ala)	Inborn genetic diseases [RCV002793620]	uncertain significance	13	49702390	49702390	Human	1	name
401724877	CV2672330	single nucleotide variant	NM_002267.4(KPNA3):c.1081G>A (p.Val361Ile)	not provided [RCV003239231]	uncertain significance	13	49706324	49706324	Human		name
401778198	CV2700682	single nucleotide variant	NM_002267.4(KPNA3):c.1129C>G (p.Leu377Val)	Inborn genetic diseases [RCV003286981]	uncertain significance	13	49706276	49706276	Human	1	name
401865536	CV2749261	single nucleotide variant	NM_002267.4(KPNA3):c.1028A>C (p.Asn343Thr)	not specified [RCV003330459]	uncertain significance	13	49709576	49709576	Human		name
402489081	CV3081140	single nucleotide variant	NM_002267.4(KPNA3):c.1116G>A (p.Met372Ile)	Spastic paraplegia 88, autosomal dominant [RCV003764445]	likely pathogenic\|uncertain significance	13	49706289	49706289	Human	1	name
405817032	CV3272796	single nucleotide variant	NM_002267.4(KPNA3):c.1006T>A (p.Ser336Thr)	Inborn genetic diseases [RCV004412041]	uncertain significance	13	49709598	49709598	Human	1	name
405817033	CV3272797	single nucleotide variant	NM_002267.4(KPNA3):c.1264G>T (p.Val422Leu)	Inborn genetic diseases [RCV004412042]	uncertain significance	13	49705729	49705729	Human	1	name
405817034	CV3272798	single nucleotide variant	NM_002267.4(KPNA3):c.1383A>C (p.Lys461Asn)	Inborn genetic diseases [RCV004412043]	uncertain significance	13	49702470	49702470	Human	1	name
408386102	CV3521974	single nucleotide variant	NM_002267.4(KPNA3):c.1418T>C (p.Ile473Thr)	Spastic paraplegia 88, autosomal dominant [RCV004760299]	uncertain significance	13	49702435	49702435	Human	1	name
596929042	CV3540740	deletion	NM_002267.4(KPNA3):c.1472_1484del (p.Asp491fs)	not provided [RCV004795068]	uncertain significance	13	49701882	49701894	Human		name

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