Eif4a3 Variant Search Result - Rat Genome Database

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33 records found for search term Eif4a3

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
15150349	CV745124	single nucleotide variant	NM_014740.4(EIF4A3):c.587-5C>G	Inborn genetic diseases [RCV002537544]\|not provided [RCV000901132]	likely benign\|uncertain significance	17	80139167	80139167	Human	1	name
15151949	CV760678	single nucleotide variant	NM_014740.4(EIF4A3):c.984-10C>G	not provided [RCV000923776]	likely benign	17	80136345	80136345	Human		name
15125045	CV741112	single nucleotide variant	NM_014740.4(EIF4A3):c.24G>C (p.Ala8=)	not provided [RCV000896692]	benign	17	80146938	80146938	Human		name
15162736	CV715780	single nucleotide variant	NM_014740.4(EIF4A3):c.90C>T (p.Thr30=)	not provided [RCV000970331]	benign	17	80146872	80146872	Human		name
156273743	CV2319852	single nucleotide variant	NM_014740.4(EIF4A3):c.10A>G (p.Thr4Ala)	Inborn genetic diseases [RCV002921273]	uncertain significance	17	80146952	80146952	Human	1	name
405719383	CV3238619	single nucleotide variant	NM_014740.4(EIF4A3):c.25A>G (p.Thr9Ala)	Inborn genetic diseases [RCV004377814]	uncertain significance	17	80146937	80146937	Human	1	name
15162731	CV715779	single nucleotide variant	NM_014740.4(EIF4A3):c.252C>T (p.Ser84=)	not provided [RCV000970330]	benign	17	80141839	80141839	Human		name
15128088	CV741111	single nucleotide variant	NM_014740.4(EIF4A3):c.132C>T (p.Gly44=)	not provided [RCV000897213]	likely benign	17	80146830	80146830	Human		name
15125105	CV756207	single nucleotide variant	NM_014740.4(EIF4A3):c.114C>A (p.Pro38=)	not provided [RCV000919095]	likely benign	17	80146848	80146848	Human		name
329358081	CV2427937	single nucleotide variant	NM_014740.4(EIF4A3):c.38C>T (p.Ala13Val)	Inborn genetic diseases [RCV003178834]	uncertain significance	17	80146924	80146924	Human	1	name
405271225	CV3209360	single nucleotide variant	NM_014740.4(EIF4A3):c.810C>T (p.Asp270=)	EIF4A3-related disorder [RCV003949700]	likely benign	17	80138199	80138199	Human		name , trait , alternate_id
405284422	CV3213769	single nucleotide variant	NM_014740.4(EIF4A3):c.858C>T (p.Thr286=)	EIF4A3-related disorder [RCV003922324]	likely benign	17	80138151	80138151	Human		name , trait , alternate_id
405289667	CV3220850	single nucleotide variant	NM_014740.4(EIF4A3):c.555T>G (p.Val185=)	EIF4A3-related disorder [RCV003961851]	likely benign	17	80139701	80139701	Human		name , trait , alternate_id
405719391	CV3238620	single nucleotide variant	NM_014740.4(EIF4A3):c.74A>G (p.Lys25Arg)	Inborn genetic diseases [RCV004377815]	uncertain significance	17	80146888	80146888	Human	1	name
407499003	CV3438156	single nucleotide variant	NM_014740.4(EIF4A3):c.35C>T (p.Ser12Leu)	Inborn genetic diseases [RCV004622644]	uncertain significance	17	80146927	80146927	Human	1	name
596947792	CV3547375	single nucleotide variant	NM_014740.4(EIF4A3):c.903C>T (p.Asn301=)	not provided [RCV004811679]	likely benign	17	80137466	80137466	Human		name
597667070	CV3670610	single nucleotide variant	NM_014740.4(EIF4A3):c.31G>C (p.Gly11Arg)	Inborn genetic diseases [RCV004979631]	uncertain significance	17	80146931	80146931	Human	1	name
15164011	CV727498	single nucleotide variant	NM_014740.4(EIF4A3):c.867G>A (p.Lys289=)	not provided [RCV000882101]	benign	17	80138142	80138142	Human		name
150529590	CV1292874	single nucleotide variant	NM_014740.4(EIF4A3):c.163G>A (p.Ala55Thr)	not provided [RCV001756267]	uncertain significance	17	80146799	80146799	Human		name
401906609	CV2818032	single nucleotide variant	NM_014740.4(EIF4A3):c.1152C>T (p.Asp384=)	not provided [RCV003421533]	likely benign	17	80136071	80136071	Human		name
401935906	CV2818033	single nucleotide variant	NM_014740.4(EIF4A3):c.1062C>T (p.Leu354=)	EIF4A3-related disorder [RCV003966379]\|not provided [RCV003413370]	likely benign	17	80136257	80136257	Human	1	name , trait , alternate_id
597667064	CV3674497	single nucleotide variant	NM_014740.4(EIF4A3):c.196C>A (p.Gln66Lys)	Inborn genetic diseases [RCV004979630]	uncertain significance	17	80144218	80144218	Human	1	name
598179382	CV3961399	single nucleotide variant	NM_014740.4(EIF4A3):c.151C>T (p.Arg51Trp)	Inborn genetic diseases [RCV005332501]	uncertain significance	17	80146811	80146811	Human	1	name
126773678	CV1033729	single nucleotide variant	NM_014740.4(EIF4A3):c.946C>T (p.Arg316Trp)	not provided [RCV001346346]	uncertain significance	17	80137423	80137423	Human		name
8574749	CV107249	single nucleotide variant	NM_014740.4(EIF4A3):c.809A>G (p.Asp270Gly)	Richieri Costa-Pereira syndrome [RCV000087740]	pathogenic	17	80138200	80138200	Human	1	name
155916664	CV2197544	single nucleotide variant	NM_014740.4(EIF4A3):c.974C>T (p.Ser325Leu)	Inborn genetic diseases [RCV002682234]	uncertain significance	17	80137395	80137395	Human	1	name
329370341	CV2461683	single nucleotide variant	NM_014740.4(EIF4A3):c.430A>G (p.Thr144Ala)	Inborn genetic diseases [RCV003209367]	uncertain significance	17	80140083	80140083	Human	1	name
401740386	CV2706068	single nucleotide variant	NM_014740.4(EIF4A3):c.713G>A (p.Arg238His)	Inborn genetic diseases [RCV003292361]	uncertain significance	17	80139036	80139036	Human	1	name
407499005	CV3438157	single nucleotide variant	NM_014740.4(EIF4A3):c.514C>T (p.Arg172Cys)	Inborn genetic diseases [RCV004622645]	uncertain significance	17	80139742	80139742	Human	1	name
597667059	CV3674496	single nucleotide variant	NM_014740.4(EIF4A3):c.709A>G (p.Ile237Val)	Inborn genetic diseases [RCV004979629]	uncertain significance	17	80139040	80139040	Human	1	name
243050186	CV2417349	single nucleotide variant	NM_014740.4(EIF4A3):c.1130C>A (p.Ala377Asp)	not provided [RCV003152221]	uncertain significance	17	80136093	80136093	Human		name
8555144	CV107246	microsatellite	NM_014740.4(EIF4A3):c.-98_-81delinsTCGGCAGCGGCACAGCGAGG[13]	Richieri Costa-Pereira syndrome [RCV000087737]	pathogenic	17	80147042	80147059	Human		name
8555146	CV107248	indel	NM_014740.4(EIF4A3):c.-98_-81del18insTCGGCAGCGGCACAGCGAGG[10]	Richieri Costa-Pereira syndrome [RCV000087739]	pathogenic	17	80147042	80147059	Human		name

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