Sap130 Variant Search Result - Rat Genome Database

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82 records found for search term Sap130

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
156115112	CV2268741	single nucleotide variant	NM_001330301.2(SAP130):c.-7+784C>T	not specified [RCV004124135]	uncertain significance	2	128027156	128027156	Human		name
156115407	CV2349298	single nucleotide variant	NM_001330301.2(SAP130):c.-7+817C>G	not specified [RCV004199245]	uncertain significance	2	128027123	128027123	Human		name
156200481	CV2350847	single nucleotide variant	NM_001330301.2(SAP130):c.-6-811G>C	not specified [RCV004211688]	uncertain significance	2	128027109	128027109	Human		name
401883341	CV2760997	single nucleotide variant	NM_001330301.2(SAP130):c.-7+795C>T	not specified [RCV004338670]	uncertain significance	2	128027145	128027145	Human		name
598223215	CV3903754	single nucleotide variant	NM_001330301.2(SAP130):c.-7+811T>C	not specified [RCV005273016]	uncertain significance	2	128027129	128027129	Human		name
155939626	CV2225615	single nucleotide variant	NM_001330301.2(SAP130):c.23G>T (p.Arg8Leu)	not specified [RCV004100987]	uncertain significance	2	128026270	128026270	Human		name
401883437	CV2785658	single nucleotide variant	NM_001330301.2(SAP130):c.58C>G (p.Pro20Ala)	not specified [RCV004363156]	uncertain significance	2	128026235	128026235	Human		name
598223240	CV3903758	single nucleotide variant	NM_001330301.2(SAP130):c.53A>G (p.Gln18Arg)	not specified [RCV005273020]	uncertain significance	2	128026240	128026240	Human		name
156037738	CV2374098	single nucleotide variant	NM_001330301.2(SAP130):c.149C>T (p.Ala50Val)	not specified [RCV004227212]	uncertain significance	2	128017879	128017879	Human		name
401870857	CV2788921	single nucleotide variant	NM_001330301.2(SAP130):c.103G>A (p.Ala35Thr)	not specified [RCV004363244]	uncertain significance	2	128026190	128026190	Human		name
598223221	CV3903755	single nucleotide variant	NM_001330301.2(SAP130):c.262G>C (p.Ala88Pro)	not specified [RCV005273017]	uncertain significance	2	128017766	128017766	Human		name
21067114	CV794767	single nucleotide variant	NM_001330301.2(SAP130):c.181C>T (p.Gln61Ter)	not provided [RCV000997204]	likely pathogenic	2	128017847	128017847	Human		name
155967439	CV2329918	single nucleotide variant	NM_001330301.2(SAP130):c.767C>G (p.Ser256Cys)	not specified [RCV004183373]	uncertain significance	2	128010371	128010371	Human		name
156138930	CV2374262	single nucleotide variant	NM_001330301.2(SAP130):c.770A>G (p.Asn257Ser)	not specified [RCV004229399]	uncertain significance	2	128010368	128010368	Human		name
401780571	CV2674085	single nucleotide variant	NM_001330301.2(SAP130):c.923G>A (p.Arg308His)	not specified [RCV004295491]	uncertain significance	2	128000401	128000401	Human		name
401739096	CV2676435	single nucleotide variant	NM_001330301.2(SAP130):c.338G>A (p.Gly113Glu)	not specified [RCV004286453]	uncertain significance	2	128017690	128017690	Human		name
401919348	CV2798226	single nucleotide variant	NM_001330301.2(SAP130):c.740T>C (p.Ile247Thr)	SAP130-related disorder [RCV003402248]	uncertain significance	2	128013034	128013034	Human		name , trait , alternate_id
405723233	CV3320541	single nucleotide variant	NM_001330301.2(SAP130):c.788T>G (p.Val263Gly)	not specified [RCV004450102]	uncertain significance	2	128010350	128010350	Human		name
407514235	CV3483610	single nucleotide variant	NM_001330301.2(SAP130):c.928G>T (p.Ala310Ser)	not specified [RCV004674468]	uncertain significance	2	128000396	128000396	Human		name
407460474	CV3483613	single nucleotide variant	NM_001330301.2(SAP130):c.647G>A (p.Ser216Asn)	not specified [RCV004658463]	uncertain significance	2	128013127	128013127	Human		name
597789699	CV3604969	single nucleotide variant	NM_001330301.2(SAP130):c.344T>C (p.Met115Thr)	not specified [RCV004855822]	uncertain significance	2	128017684	128017684	Human		name
597789703	CV3604970	single nucleotide variant	NM_001330301.2(SAP130):c.914G>C (p.Ser305Thr)	not specified [RCV004855823]	uncertain significance	2	128000410	128000410	Human		name
597789715	CV3604973	single nucleotide variant	NM_001330301.2(SAP130):c.842C>T (p.Ala281Val)	not specified [RCV004855826]	uncertain significance	2	128010296	128010296	Human		name
597789725	CV3604975	single nucleotide variant	NM_001330301.2(SAP130):c.356C>T (p.Pro119Leu)	not specified [RCV004855828]	uncertain significance	2	128016540	128016540	Human		name
597789733	CV3604977	single nucleotide variant	NM_001330301.2(SAP130):c.442G>A (p.Val148Ile)	not specified [RCV004855830]	uncertain significance	2	128016454	128016454	Human		name
598223183	CV3903749	single nucleotide variant	NM_001330301.2(SAP130):c.700A>G (p.Thr234Ala)	not specified [RCV005273011]	likely benign	2	128013074	128013074	Human		name
8625120	CV80239	single nucleotide variant	NM_001145928.1(SAP130):c.928G>T (p.Ala310Ser)	Malignant melanoma [RCV000060315]	not provided	2	128010288	128010288	Human		name
156304332	CV2252499	single nucleotide variant	NM_001330301.2(SAP130):c.2407A>G (p.Met803Val)	not specified [RCV004118400]	uncertain significance	2	127955001	127955001	Human		name
156305010	CV2252568	single nucleotide variant	NM_001330301.2(SAP130):c.2800G>A (p.Glu934Lys)	not specified [RCV004118454]	uncertain significance	2	127945557	127945557	Human		name
156190733	CV2255184	single nucleotide variant	NM_001330301.2(SAP130):c.2490G>T (p.Met830Ile)	not specified [RCV004115799]	uncertain significance	2	127950341	127950341	Human		name
156190753	CV2255185	single nucleotide variant	NM_001330301.2(SAP130):c.2491C>G (p.Pro831Ala)	not specified [RCV004115800]	uncertain significance	2	127950340	127950340	Human		name
156171117	CV2286613	single nucleotide variant	NM_001330301.2(SAP130):c.2926G>A (p.Glu976Lys)	not specified [RCV004142463]	uncertain significance	2	127942513	127942513	Human		name
156093730	CV2309955	single nucleotide variant	NM_001330301.2(SAP130):c.1309C>T (p.Arg437Trp)	not specified [RCV004163106]	uncertain significance	2	127996396	127996396	Human		name
156203660	CV2310312	single nucleotide variant	NM_001330301.2(SAP130):c.1678C>G (p.Leu560Val)	not specified [RCV004163366]	uncertain significance	2	127989666	127989666	Human		name
156198694	CV2312940	single nucleotide variant	NM_001330301.2(SAP130):c.1480T>G (p.Ser494Ala)	not specified [RCV004159451]	uncertain significance	2	127989864	127989864	Human		name
155959047	CV2313868	single nucleotide variant	NM_001330301.2(SAP130):c.1969C>T (p.Arg657Trp)	not specified [RCV004164185]	uncertain significance	2	127978079	127978079	Human		name
156190539	CV2325496	single nucleotide variant	NM_001330301.2(SAP130):c.2192C>T (p.Pro731Leu)	not specified [RCV004179942]	uncertain significance	2	127955216	127955216	Human		name
156078265	CV2341176	single nucleotide variant	NM_001330301.2(SAP130):c.2440A>G (p.Thr814Ala)	not specified [RCV004186597]	uncertain significance	2	127950391	127950391	Human		name
156258213	CV2366037	single nucleotide variant	NM_001330301.2(SAP130):c.1024A>G (p.Ile342Val)	not specified [RCV004208036]	uncertain significance	2	128000140	128000140	Human		name
156339394	CV2367526	single nucleotide variant	NM_001330301.2(SAP130):c.2162C>T (p.Ala721Val)	not specified [RCV004211461]	uncertain significance	2	127955246	127955246	Human		name
155935566	CV2371824	single nucleotide variant	NM_001330301.2(SAP130):c.1648A>T (p.Ile550Phe)	not specified [RCV004219477]	uncertain significance	2	127989696	127989696	Human		name
156262509	CV2391595	single nucleotide variant	NM_001330301.2(SAP130):c.2362G>A (p.Val788Ile)	not specified [RCV004239973]	uncertain significance	2	127955046	127955046	Human		name
329358320	CV2450273	single nucleotide variant	NM_001330301.2(SAP130):c.2284C>T (p.Pro762Ser)	not specified [RCV004271369]	uncertain significance	2	127955124	127955124	Human		name
401760181	CV2694952	single nucleotide variant	NM_001330301.2(SAP130):c.2197A>G (p.Ile733Val)	not specified [RCV004301337]	uncertain significance	2	127955211	127955211	Human		name
401721891	CV2710220	single nucleotide variant	NM_001330301.2(SAP130):c.2645G>A (p.Arg882His)	not specified [RCV004317119]	uncertain significance	2	127950186	127950186	Human		name
401766361	CV2732265	single nucleotide variant	NM_001330301.2(SAP130):c.1711A>G (p.Ile571Val)	not specified [RCV004330717]	uncertain significance	2	127989633	127989633	Human		name
405723148	CV3320530	single nucleotide variant	NM_001330301.2(SAP130):c.1153A>G (p.Met385Val)	not specified [RCV004450091]	uncertain significance	2	127999801	127999801	Human		name
405723156	CV3320531	single nucleotide variant	NM_001330301.2(SAP130):c.1629G>C (p.Gln543His)	not specified [RCV004450092]	uncertain significance	2	127989715	127989715	Human		name
405723164	CV3320532	single nucleotide variant	NM_001330301.2(SAP130):c.2164G>A (p.Val722Ile)	not specified [RCV004450093]	uncertain significance	2	127955244	127955244	Human		name
405723169	CV3320533	single nucleotide variant	NM_001330301.2(SAP130):c.2242G>A (p.Val748Ile)	not specified [RCV004450094]	uncertain significance	2	127955166	127955166	Human		name
405723178	CV3320534	single nucleotide variant	NM_001330301.2(SAP130):c.2305G>T (p.Ala769Ser)	not specified [RCV004450095]	uncertain significance	2	127955103	127955103	Human		name
405723185	CV3320535	single nucleotide variant	NM_001330301.2(SAP130):c.2347G>A (p.Val783Ile)	not specified [RCV004450096]	uncertain significance	2	127955061	127955061	Human		name
405723193	CV3320536	single nucleotide variant	NM_001330301.2(SAP130):c.2446A>G (p.Thr816Ala)	not specified [RCV004450097]	uncertain significance	2	127950385	127950385	Human		name
405723207	CV3320537	single nucleotide variant	NM_001330301.2(SAP130):c.2604G>T (p.Glu868Asp)	not specified [RCV004450098]	uncertain significance	2	127950227	127950227	Human		name
405723215	CV3320538	single nucleotide variant	NM_001330301.2(SAP130):c.2714C>A (p.Pro905His)	not specified [RCV004450099]	uncertain significance	2	127949952	127949952	Human		name
405723222	CV3320539	single nucleotide variant	NM_001330301.2(SAP130):c.2785G>A (p.Val929Ile)	not specified [RCV004450100]	uncertain significance	2	127949881	127949881	Human		name
407460466	CV3483611	single nucleotide variant	NM_001330301.2(SAP130):c.1552C>T (p.Pro518Ser)	not specified [RCV004658461]	uncertain significance	2	127989792	127989792	Human		name
407460470	CV3483612	single nucleotide variant	NM_001330301.2(SAP130):c.1916C>G (p.Ser639Trp)	not specified [RCV004658462]	uncertain significance	2	127986827	127986827	Human		name
407460478	CV3483614	single nucleotide variant	NM_001330301.2(SAP130):c.1531G>A (p.Ala511Thr)	not specified [RCV004658464]	uncertain significance	2	127989813	127989813	Human		name
597789711	CV3604972	single nucleotide variant	NM_001330301.2(SAP130):c.1732C>T (p.Pro578Ser)	not specified [RCV004855825]	uncertain significance	2	127989612	127989612	Human		name
597789721	CV3604974	single nucleotide variant	NM_001330301.2(SAP130):c.1651G>A (p.Gly551Arg)	not specified [RCV004855827]	uncertain significance	2	127989693	127989693	Human		name
597789737	CV3604978	single nucleotide variant	NM_001330301.2(SAP130):c.1594A>G (p.Ile532Val)	not specified [RCV004855831]	uncertain significance	2	127989750	127989750	Human		name
597789741	CV3604979	single nucleotide variant	NM_001330301.2(SAP130):c.2101A>G (p.Thr701Ala)	not specified [RCV004855832]	uncertain significance	2	127955307	127955307	Human		name
597789746	CV3604980	single nucleotide variant	NM_001330301.2(SAP130):c.2972C>T (p.Ala991Val)	not specified [RCV004855833]	uncertain significance	2	127942467	127942467	Human		name
597789752	CV3604981	single nucleotide variant	NM_001330301.2(SAP130):c.1888A>G (p.Ser630Gly)	not specified [RCV004855834]	uncertain significance	2	127986855	127986855	Human		name
598223171	CV3903747	single nucleotide variant	NM_001330301.2(SAP130):c.1310G>A (p.Arg437Gln)	not specified [RCV005273009]	uncertain significance	2	127996395	127996395	Human		name
598223178	CV3903748	single nucleotide variant	NM_001330301.2(SAP130):c.2335A>G (p.Ser779Gly)	not specified [RCV005273010]	uncertain significance	2	127955073	127955073	Human		name
598223189	CV3903750	single nucleotide variant	NM_001330301.2(SAP130):c.1666C>G (p.Gln556Glu)	not specified [RCV005273012]	uncertain significance	2	127989678	127989678	Human		name
598223195	CV3903751	single nucleotide variant	NM_001330301.2(SAP130):c.2471T>C (p.Leu824Pro)	not specified [RCV005273013]	uncertain significance	2	127950360	127950360	Human		name
598223203	CV3903752	single nucleotide variant	NM_001330301.2(SAP130):c.1402C>G (p.Pro468Ala)	not specified [RCV005273014]	uncertain significance	2	127993262	127993262	Human		name
598223209	CV3903753	single nucleotide variant	NM_001330301.2(SAP130):c.1330G>A (p.Ala444Thr)	not specified [RCV005273015]	uncertain significance	2	127996375	127996375	Human		name
598223228	CV3903756	single nucleotide variant	NM_001330301.2(SAP130):c.1121A>C (p.His374Pro)	not specified [RCV005273018]	uncertain significance	2	127999833	127999833	Human		name
598223234	CV3903757	single nucleotide variant	NM_001330301.2(SAP130):c.2384A>G (p.Glu795Gly)	not specified [RCV005273019]	uncertain significance	2	127955024	127955024	Human		name
598223248	CV3903759	single nucleotide variant	NM_001330301.2(SAP130):c.2248C>T (p.Leu750Phe)	not specified [RCV005273021]	uncertain significance	2	127955160	127955160	Human		name
598223254	CV3903760	single nucleotide variant	NM_001330301.2(SAP130):c.2015G>A (p.Arg672Gln)	not specified [RCV005273022]	uncertain significance	2	127978033	127978033	Human		name
8625119	CV80238	single nucleotide variant	NM_001145928.1(SAP130):c.1480C>T (p.Pro494Ser)	Malignant melanoma [RCV000060314]	not provided	2	127993262	127993262	Human		name
8629824	CV84971	single nucleotide variant	NM_001145928.1(SAP130):c.1909C>T (p.Pro637Ser)	Malignant melanoma [RCV000065053]	not provided	2	127986912	127986912	Human		name
8629825	CV84972	single nucleotide variant	NM_001145928.1(SAP130):c.1352C>T (p.Ala451Val)	Malignant melanoma [RCV000065054]	not provided	2	127996431	127996431	Human		name
155956547	CV2387311	single nucleotide variant	NM_001330301.2(SAP130):c.3158G>A (p.Arg1053Gln)	not specified [RCV004238399]	uncertain significance	2	127942022	127942022	Human		name
405723228	CV3320540	single nucleotide variant	NM_001330301.2(SAP130):c.3001A>G (p.Asn1001Asp)	not specified [RCV004450101]	uncertain significance	2	127942438	127942438	Human		name
597789707	CV3604971	single nucleotide variant	NM_001330301.2(SAP130):c.3131C>T (p.Thr1044Ile)	not specified [RCV004855824]	uncertain significance	2	127942049	127942049	Human		name
401924799	CV2812310	insertion	NM_001330301.2(SAP130):c.1814_1815insTCCATCTGCCACAATTGTGGC (p.Ala605_Asn606insProSerAlaThrIleValAla)	not provided [RCV003436157]	uncertain significance	2	127986928	127986929	Human		name

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