Echdc1 Variant Search Result - Rat Genome Database

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23 records found for search term Echdc1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
401866570	CV2782881	single nucleotide variant	NM_001002030.2(ECHDC1):c.-3+979G>C	not specified [RCV004361685]	uncertain significance	6	127342357	127342357	Human		name
42723199	CV966187	microsatellite	NM_001002030.2(ECHDC1):c.498-40AG[2]	Deficiency of butyryl-CoA dehydrogenase [RCV001290987]	likely pathogenic	6	127290310	127290313	Human		name
155935711	CV2221802	single nucleotide variant	NM_001002030.2(ECHDC1):c.12T>A (p.Ser4Arg)	not specified [RCV004102834]	uncertain significance	6	127331017	127331017	Human		name
401728166	CV2685919	single nucleotide variant	NM_001002030.2(ECHDC1):c.17T>G (p.Leu6Trp)	not specified [RCV004294893]	uncertain significance	6	127331012	127331012	Human		name
42723195	CV966189	indel	NM_001002030.2(ECHDC1):c.221-4_222delinsTA	Deficiency of butyryl-CoA dehydrogenase [RCV001290985]	likely pathogenic	6	127327143	127327148	Human		name
598268905	CV3953963	single nucleotide variant	NM_001002030.2(ECHDC1):c.498G>A (p.Arg166=)	not specified [RCV005327204]	likely benign	6	127290277	127290277	Human		name
156154104	CV2209499	single nucleotide variant	NM_001002030.2(ECHDC1):c.229A>G (p.Met77Val)	not specified [RCV004093630]	uncertain significance	6	127327136	127327136	Human		name
156330807	CV2224321	single nucleotide variant	NM_001002030.2(ECHDC1):c.231G>A (p.Met77Ile)	not specified [RCV004096139]	uncertain significance	6	127327134	127327134	Human		name
597803099	CV3667271	single nucleotide variant	NM_001002030.2(ECHDC1):c.122T>C (p.Leu41Pro)	not specified [RCV004907041]	uncertain significance	6	127330907	127330907	Human		name
598268918	CV3953966	single nucleotide variant	NM_001002030.2(ECHDC1):c.114A>T (p.Lys38Asn)	not specified [RCV005327207]	uncertain significance	6	127330915	127330915	Human		name
155916087	CV2197218	single nucleotide variant	NM_001002030.2(ECHDC1):c.814G>A (p.Ala272Thr)	not specified [RCV004079003]	uncertain significance	6	127289961	127289961	Human		name
156387470	CV2221517	single nucleotide variant	NM_001002030.2(ECHDC1):c.614T>C (p.Val205Ala)	not specified [RCV004096787]	uncertain significance	6	127290161	127290161	Human		name
156138192	CV2236604	single nucleotide variant	NM_001002030.2(ECHDC1):c.513G>C (p.Glu171Asp)	not specified [RCV004110587]	uncertain significance	6	127290262	127290262	Human		name
156139855	CV2280781	single nucleotide variant	NM_001002030.2(ECHDC1):c.684G>C (p.Gln228His)	not specified [RCV004145044]	uncertain significance	6	127290091	127290091	Human		name
156051579	CV2336673	single nucleotide variant	NM_001002030.2(ECHDC1):c.822G>T (p.Gln274His)	not specified [RCV004196914]	uncertain significance	6	127289953	127289953	Human		name
155981665	CV2337071	single nucleotide variant	NM_001002030.2(ECHDC1):c.529G>A (p.Val177Ile)	not specified [RCV004192835]	uncertain significance	6	127290246	127290246	Human		name
156067167	CV2381065	single nucleotide variant	NM_001002030.2(ECHDC1):c.575G>A (p.Arg192Gln)	not specified [RCV004225101]	uncertain significance	6	127290200	127290200	Human		name
329358388	CV2450302	single nucleotide variant	NM_001002030.2(ECHDC1):c.355A>G (p.Thr119Ala)	not specified [RCV004271394]	uncertain significance	6	127327010	127327010	Human		name
401758795	CV2694282	single nucleotide variant	NM_001002030.2(ECHDC1):c.592G>A (p.Gly198Arg)	not specified [RCV004304482]	uncertain significance	6	127290183	127290183	Human		name
401776599	CV2711209	single nucleotide variant	NM_001002030.2(ECHDC1):c.890G>A (p.Gly297Glu)	not specified [RCV004313003]	uncertain significance	6	127289885	127289885	Human		name
597803095	CV3667269	single nucleotide variant	NM_001002030.2(ECHDC1):c.302C>T (p.Ala101Val)	not specified [RCV004907039]	uncertain significance	6	127327063	127327063	Human		name
597803097	CV3667270	single nucleotide variant	NM_001002030.2(ECHDC1):c.869T>C (p.Leu290Ser)	not specified [RCV004907040]	uncertain significance	6	127289906	127289906	Human		name
42723197	CV966188	single nucleotide variant	NM_001002030.2(ECHDC1):c.389T>C (p.Met130Thr)	Deficiency of butyryl-CoA dehydrogenase [RCV001290986]	likely pathogenic	6	127316477	127316477	Human	1	name

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