Cpn1 Variant Search Result - Rat Genome Database

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53 records found for search term Cpn1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
126732145	CV1020675	single nucleotide variant	NM_001308.3(CPN1):c.760-1G>A	Anaphylotoxin inactivator deficiency [RCV001333925]	pathogenic	10	100063726	100063726	Human		name
126732142	CV1020676	single nucleotide variant	NM_001308.3(CPN1):c.759+1G>A	Anaphylotoxin inactivator deficiency [RCV001333924]	pathogenic	10	100065187	100065187	Human		name
8559453	CV21661	duplication	NM_001308.3(CPN1):c.173dup (p.His59fs)	Anaphylotoxin inactivator deficiency [RCV000007001]	pathogenic	10	100081452	100081453	Human	1	name
156185131	CV2239359	single nucleotide variant	NM_001308.3(CPN1):c.71G>C (p.Arg24Pro)	not specified [RCV004114094]	uncertain significance	10	100081555	100081555	Human		name
405281562	CV3191628	single nucleotide variant	NM_001308.3(CPN1):c.324G>C (p.Arg108=)	CPN1-related disorder [RCV003907321]	benign	10	100076007	100076007	Human		name , trait , alternate_id
405278520	CV3221935	single nucleotide variant	NM_001308.3(CPN1):c.750C>T (p.Leu250=)	CPN1-related disorder [RCV003976482]	benign	10	100065197	100065197	Human		name , trait , alternate_id
405696836	CV3245582	single nucleotide variant	NM_001308.3(CPN1):c.90T>A (p.Asp30Glu)	not specified [RCV004374506]	uncertain significance	10	100081536	100081536	Human		name
15116500	CV712108	single nucleotide variant	NM_001308.3(CPN1):c.747G>A (p.Lys249=)	not provided [RCV000962046]	benign	10	100065200	100065200	Human		name
155929126	CV2277967	single nucleotide variant	NM_001308.3(CPN1):c.170G>C (p.Gly57Ala)	not specified [RCV004141211]	uncertain significance	10	100081456	100081456	Human		name
156276445	CV2316538	single nucleotide variant	NM_001308.3(CPN1):c.269C>T (p.Ala90Val)	not specified [RCV004170003]	likely benign	10	100076062	100076062	Human		name
156347231	CV2375400	single nucleotide variant	NM_001308.3(CPN1):c.238A>G (p.Lys80Glu)	not specified [RCV004232795]	uncertain significance	10	100076093	100076093	Human		name
401726965	CV2684410	single nucleotide variant	NM_001308.3(CPN1):c.221C>T (p.Pro74Leu)	not specified [RCV004291488]	likely benign	10	100081405	100081405	Human		name
405696817	CV3245579	single nucleotide variant	NM_001308.3(CPN1):c.101C>T (p.Thr34Met)	not specified [RCV004374503]	uncertain significance	10	100081525	100081525	Human		name
408384670	CV3504388	single nucleotide variant	NM_001308.3(CPN1):c.1299C>T (p.His433=)	CPN1-related disorder [RCV004731946]	benign	10	100042505	100042505	Human		name , trait , alternate_id
597651262	CV3651108	single nucleotide variant	NM_001308.3(CPN1):c.277C>T (p.Arg93Cys)	not specified [RCV004910576]	uncertain significance	10	100076054	100076054	Human		name
597652190	CV3651111	single nucleotide variant	NM_001308.3(CPN1):c.254T>A (p.Met85Lys)	not specified [RCV004910579]	uncertain significance	10	100076077	100076077	Human		name
597651305	CV3651113	single nucleotide variant	NM_001308.3(CPN1):c.256C>G (p.His86Asp)	not specified [RCV004910581]	uncertain significance	10	100076075	100076075	Human		name
8559454	CV21662	single nucleotide variant	NM_001308.3(CPN1):c.533G>A (p.Gly178Asp)	Anaphylotoxin inactivator deficiency [RCV000007002]\|CPN1-related disorder [RCV004730837]\|not provided [RCV004717901]\|not specified [RCV000455837]	pathogenic\|benign	10	100069757	100069757	Human	13	name , trait , alternate_id
8559454	CV21662	single nucleotide variant	NM_001308.3(CPN1):c.533G>A (p.Gly178Asp)	Anaphylotoxin inactivator deficiency [RCV000007002]\|CPN1-related disorder [RCV004730837]\|not provided [RCV004717901]\|not specified [RCV000455837]	pathogenic\|benign	10	100069757	100069758	Human	13	name , trait , alternate_id
156313343	CV2196492	single nucleotide variant	NM_001308.3(CPN1):c.601A>C (p.Ile201Leu)	not specified [RCV004073786]	uncertain significance	10	100065346	100065346	Human		name
156337720	CV2224843	single nucleotide variant	NM_001308.3(CPN1):c.668A>G (p.Asn223Ser)	not specified [RCV004092938]	uncertain significance	10	100065279	100065279	Human		name
155932025	CV2293849	single nucleotide variant	NM_001308.3(CPN1):c.343G>A (p.Val115Ile)	not specified [RCV004155110]	uncertain significance	10	100075988	100075988	Human		name
155928534	CV2360058	single nucleotide variant	NM_001308.3(CPN1):c.322C>T (p.Arg108Trp)	not specified [RCV004212891]	uncertain significance	10	100076009	100076009	Human		name
155984373	CV2367912	single nucleotide variant	NM_001308.3(CPN1):c.641A>G (p.Asn214Ser)	not specified [RCV004223011]	uncertain significance	10	100065306	100065306	Human		name
156219843	CV2393643	single nucleotide variant	NM_001308.3(CPN1):c.982C>T (p.Arg328Trp)	not specified [RCV004231453]	uncertain significance	10	100057042	100057042	Human		name
156000145	CV2396537	single nucleotide variant	NM_001308.3(CPN1):c.299C>T (p.Ser100Leu)	not specified [RCV004242244]	uncertain significance	10	100076032	100076032	Human		name
401762629	CV2720002	single nucleotide variant	NM_001308.3(CPN1):c.698G>C (p.Arg233Pro)	not specified [RCV004323583]	uncertain significance	10	100065249	100065249	Human		name
401861110	CV2758755	single nucleotide variant	NM_001308.3(CPN1):c.560A>G (p.Asp187Gly)	not specified [RCV004337813]	uncertain significance	10	100069730	100069730	Human		name
401860729	CV2776165	single nucleotide variant	NM_001308.3(CPN1):c.367A>G (p.Ile123Val)	not specified [RCV004353253]	uncertain significance	10	100075964	100075964	Human		name
401881740	CV2784800	single nucleotide variant	NM_001308.3(CPN1):c.583C>T (p.Pro195Ser)	not specified [RCV004352590]	uncertain significance	10	100065364	100065364	Human		name
405696828	CV3245581	single nucleotide variant	NM_001308.3(CPN1):c.409G>T (p.Ala137Ser)	not specified [RCV004374505]	uncertain significance	10	100075922	100075922	Human		name
405696842	CV3245583	single nucleotide variant	NM_001308.3(CPN1):c.976G>A (p.Gly326Ser)	not specified [RCV004374507]	uncertain significance	10	100057048	100057048	Human		name
407457101	CV3419631	single nucleotide variant	NM_001308.3(CPN1):c.934G>A (p.Asp312Asn)	not specified [RCV004611025]	likely benign	10	100057090	100057090	Human		name
407457104	CV3419632	single nucleotide variant	NM_001308.3(CPN1):c.454A>G (p.Asn152Asp)	not specified [RCV004611026]	uncertain significance	10	100069836	100069836	Human		name
407457107	CV3419633	single nucleotide variant	NM_001308.3(CPN1):c.882C>G (p.Asp294Glu)	not specified [RCV004611027]	uncertain significance	10	100057142	100057142	Human		name
408393733	CV3499780	single nucleotide variant	NM_001308.3(CPN1):c.734C>T (p.Thr245Met)	Anaphylotoxin inactivator deficiency [RCV004720577]	pathogenic	10	100065213	100065213	Human	1	name
597651245	CV3651106	single nucleotide variant	NM_001308.3(CPN1):c.768G>C (p.Lys256Asn)	not specified [RCV004910574]	uncertain significance	10	100063717	100063717	Human		name
597651254	CV3651107	single nucleotide variant	NM_001308.3(CPN1):c.365G>C (p.Arg122Pro)	not specified [RCV004910575]	uncertain significance	10	100075966	100075966	Human		name
597651268	CV3651109	single nucleotide variant	NM_001308.3(CPN1):c.472G>C (p.Asp158His)	not specified [RCV004910577]	uncertain significance	10	100069818	100069818	Human		name
597651278	CV3651110	single nucleotide variant	NM_001308.3(CPN1):c.751T>C (p.Phe251Leu)	not specified [RCV004910578]	uncertain significance	10	100065196	100065196	Human		name
598246408	CV3945263	single nucleotide variant	NM_001308.3(CPN1):c.949G>A (p.Glu317Lys)	not specified [RCV005322315]	uncertain significance	10	100057075	100057075	Human		name
598246428	CV3945266	single nucleotide variant	NM_001308.3(CPN1):c.605G>A (p.Arg202Gln)	not specified [RCV005322318]	likely benign	10	100065342	100065342	Human		name
598246441	CV3945268	single nucleotide variant	NM_001308.3(CPN1):c.385A>G (p.Met129Val)	not specified [RCV005322320]	uncertain significance	10	100075946	100075946	Human		name
598246448	CV3945269	single nucleotide variant	NM_001308.3(CPN1):c.839C>T (p.Thr280Ile)	not specified [RCV005322321]	uncertain significance	10	100063646	100063646	Human		name
156127288	CV2351171	single nucleotide variant	NM_001308.3(CPN1):c.1133G>A (p.Arg378Gln)	not specified [RCV004214024]	uncertain significance	10	100048855	100048855	Human		name
329364118	CV2467158	single nucleotide variant	NM_001308.3(CPN1):c.1150A>G (p.Ile384Val)	not specified [RCV004284980]	uncertain significance	10	100048838	100048838	Human		name
401872716	CV2764304	single nucleotide variant	NM_001308.3(CPN1):c.1226C>T (p.Thr409Met)	not specified [RCV004336836]	uncertain significance	10	100048762	100048762	Human		name
405696824	CV3245580	single nucleotide variant	NM_001308.3(CPN1):c.1117C>T (p.His373Tyr)	not specified [RCV004374504]	uncertain significance	10	100048871	100048871	Human		name
597651236	CV3651105	single nucleotide variant	NM_001308.3(CPN1):c.1055A>G (p.Asn352Ser)	not specified [RCV004910573]	uncertain significance	10	100054403	100054403	Human		name
598246414	CV3945264	single nucleotide variant	NM_001308.3(CPN1):c.1282G>T (p.Ala428Ser)	not specified [RCV005322316]	uncertain significance	10	100042522	100042522	Human		name
598246434	CV3945267	single nucleotide variant	NM_001308.3(CPN1):c.1252A>G (p.Ser418Gly)	not specified [RCV005322319]	uncertain significance	10	100042552	100042552	Human		name
25327373	CV815798	single nucleotide variant	NM_001308.3(CPN1):c.1219G>A (p.Glu407Lys)	Hereditary angioedema with normal C1Inh [RCV001027415]	not provided	10	100048769	100048769	Human		name
126732139	CV1020674	duplication	NM_001308.3(CPN1):c.1150_1154dup (p.Tyr385Ter)	Anaphylotoxin inactivator deficiency [RCV001333923]	pathogenic	10	100048833	100048834	Human		name

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