ANGPT1 angiopoietin 1

Canonical transcript: "NM_001146|NM_139290"

238 unique variant annotations were identified in 78 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
8-108262669-T-A c.*1414A>T - 3-UTRSNV 9/9 - 15
8-108263134-C-G c.*949G>C - 3-UTRSNV 9/9 - 7
8-108266218-T-A c.1337-1975A>T - IntronicSNV - 8/8 2
8-108266218-T-G c.1337-1975A>C - IntronicSNV - 8/8 2
8-108266983-G-A c.1337-2740C>T - IntronicSNV - 8/8 2
8-108267915-C-T c.1337-3672G>A - IntronicSNV - 8/8 1
8-108269079-T-G c.1337-4836A>C - IntronicSNV - 8/8 1
8-108269603-C-G c.1337-5360G>C - IntronicSNV - 8/8 1
8-108269603-C-T c.1337-5360G>A - IntronicSNV - 8/8 1
8-108269728-C-A c.1337-5485G>T - IntronicSNV - 8/8 1
8-108269728-C-T c.1337-5485G>A - IntronicSNV - 8/8 1
8-108270037-C-A c.1337-5794G>T - IntronicSNV - 8/8 3
8-108270401-T-C c.1336+6048A>G - IntronicSNV - 8/8 1
8-108270608-A-G c.1336+5841T>C - IntronicSNV - 8/8 1
8-108270959-C-G c.1336+5490G>C - IntronicSNV - 8/8 1
8-108270959-C-T c.1336+5490G>A - IntronicSNV - 8/8 1
8-108271112-A-C c.1336+5337T>G - IntronicSNV - 8/8 2
8-108271141-A-C c.1336+5308T>G - IntronicSNV - 8/8 1
8-108271252-T-C c.1336+5197A>G - IntronicSNV - 8/8 2
8-108271859-A-C c.1336+4590T>G - IntronicSNV - 8/8 1
8-108272795-A-G c.1336+3654T>C - IntronicSNV - 8/8 1
8-108272861-T-C c.1336+3588A>G - IntronicSNV - 8/8 1
8-108273016-T-A c.1336+3433A>T - IntronicSNV - 8/8 3
8-108273016-T-C c.1336+3433A>G - IntronicSNV - 8/8 3
8-108273016-T-G c.1336+3433A>C - IntronicSNV - 8/8 3
8-108273318-T-C c.1336+3131A>G - IntronicSNV - 8/8 1
8-108273318-T-G c.1336+3131A>C - IntronicSNV - 8/8 1
8-108273928-A-G c.1336+2521T>C - IntronicSNV - 8/8 1
8-108273928-A-T c.1336+2521T>A - IntronicSNV - 8/8 1
8-108274563-A-C c.1336+1886T>G - IntronicSNV - 8/8 2
8-108274683-T-C c.1336+1766A>G - IntronicSNV - 8/8 1
8-108275192-C-T c.1336+1257G>A - IntronicSNV - 8/8 1
8-108275781-C-T c.1336+668G>A - IntronicSNV - 8/8 1
8-108275857-G-A c.1336+592C>T - IntronicSNV - 8/8 1
8-108276873-C-T c.1206-294G>A - IntronicSNV - 7/8 1
8-108278616-C-A c.1206-2037G>T - IntronicSNV - 7/8 3
8-108279912-G-A c.1206-3333C>T - IntronicSNV - 7/8 3
8-108281427-C-G c.1206-4848G>C - IntronicSNV - 7/8 1
8-108283945-A-G c.1206-7366T>C - IntronicSNV - 7/8 4
8-108283988-C-T c.1206-7409G>A - IntronicSNV - 7/8 1
8-108285287-G-T c.1206-8708C>A - IntronicSNV - 7/8 1
8-108285490-A-G c.1206-8911T>C - IntronicSNV - 7/8 1
8-108285591-A-G c.1206-9012T>C - IntronicSNV - 7/8 1
8-108287577-T-A c.1205+9333A>T - IntronicSNV - 7/8 3
8-108287577-T-G c.1205+9333A>C - IntronicSNV - 7/8 3
8-108287597-G-A c.1205+9313C>T - IntronicSNV - 7/8 2
8-108287752-C-T c.1205+9158G>A - IntronicSNV - 7/8 1
8-108288349-T-A c.1205+8561A>T - IntronicSNV - 7/8 1
8-108288752-C-T c.1205+8158G>A - IntronicSNV - 7/8 1
8-108290872-G-A c.1205+6038C>T - IntronicSNV - 7/8 1
8-108291703-C-G c.1205+5207G>C - IntronicSNV - 7/8 2
8-108291877-T-A c.1205+5033A>T - IntronicSNV - 7/8 1
8-108292664-G-A c.1205+4246C>T - IntronicSNV - 7/8 2
8-108293443-A-G c.1205+3467T>C - IntronicSNV - 7/8 1
8-108293718-G-A c.1205+3192C>T - IntronicSNV - 7/8 1
8-108294209-G-A c.1205+2701C>T - IntronicSNV - 7/8 1
8-108294209-G-C c.1205+2701C>G - IntronicSNV - 7/8 1
8-108296964-C-T c.1151G>A p.Arg384Gln Missense 7/9 - 2
8-108298272-T-C c.1039-1196A>G - IntronicSNV - 6/8 2
8-108299501-T-A c.1039-2425A>T - IntronicSNV - 6/8 3
8-108299501-T-G c.1039-2425A>C - IntronicSNV - 6/8 3
8-108301798-G-T c.1038+4366C>A - IntronicSNV - 6/8 4
8-108306367-T-C c.937-102A>G - IntronicSNV - 5/8 2
8-108306487-A-G c.937-222T>C - IntronicSNV - 5/8 2
8-108306487-A-T c.937-222T>A - IntronicSNV - 5/8 2
8-108307058-A-G c.937-793T>C - IntronicSNV - 5/8 1
8-108307337-G-A c.937-1072C>T - IntronicSNV - 5/8 3
8-108309253-G-A c.937-2988C>T - IntronicSNV - 5/8 1
8-108314971-T-G c.936+497A>C - IntronicSNV - 5/8 3
8-108315277-T-A c.936+191A>T - IntronicSNV - 5/8 2
8-108315277-T-G c.936+191A>C - IntronicSNV - 5/8 2
8-108315462-T-C c.936+6A>G - IntronicSNV - 5/8 1
8-108315462-T-G c.936+6A>C - IntronicSNV - 5/8 1
8-108317615-G-A c.809-2020C>T - IntronicSNV - 4/8 1
8-108320785-T-A c.809-5190A>T - IntronicSNV - 4/8 1
8-108321048-T-C c.809-5453A>G - IntronicSNV - 4/8 1
8-108323384-A-C c.809-7789T>G - IntronicSNV - 4/8 2
8-108325317-G-A c.808+8807C>T - IntronicSNV - 4/8 1
8-108326351-A-G c.808+7773T>C - IntronicSNV - 4/8 3
8-108327040-G-A c.808+7084C>T - IntronicSNV - 4/8 1
8-108327348-T-C c.808+6776A>G - IntronicSNV - 4/8 1
8-108329302-A-T c.808+4822T>A - IntronicSNV - 4/8 1
8-108329796-C-A c.808+4328G>T - IntronicSNV - 4/8 1
8-108329796-C-T c.808+4328G>A - IntronicSNV - 4/8 1
8-108331597-G-A c.808+2527C>T - IntronicSNV - 4/8 1
8-108331706-C-A c.808+2418G>T - IntronicSNV - 4/8 2
8-108331706-C-T c.808+2418G>A - IntronicSNV - 4/8 2
8-108332485-T-C c.808+1639A>G - IntronicSNV - 4/8 2
8-108334162-G-A c.770C>T p.Thr257Ile Missense 4/9 - 2
8-108334162-G-C c.770C>G p.Thr257Arg Missense 4/9 - 2
8-108334162-G-T c.770C>A p.Thr257Lys Missense 4/9 - 2
8-108334662-C-T c.576-306G>A - IntronicSNV - 3/8 1
8-108336737-G-A c.576-2381C>T - IntronicSNV - 3/8 2
8-108339611-C-T c.576-5255G>A - IntronicSNV - 3/8 1
8-108341751-T-C c.575+6627A>G - IntronicSNV - 3/8 1
8-108342263-A-C c.575+6115T>G - IntronicSNV - 3/8 3
8-108342263-A-T c.575+6115T>A - IntronicSNV - 3/8 3
8-108346648-C-T c.575+1730G>A - IntronicSNV - 3/8 1
8-108347114-T-C c.575+1264A>G - IntronicSNV - 3/8 1
8-108354035-A-G c.453+5135T>C - IntronicSNV - 2/8 2
8-108355296-C-G c.453+3874G>C - IntronicSNV - 2/8 1
8-108355296-C-T c.453+3874G>A - IntronicSNV - 2/8 1
8-108355446-G-T c.453+3724C>A - IntronicSNV - 2/8 1
8-108355461-G-A c.453+3709C>T - IntronicSNV - 2/8 1
8-108355461-G-C c.453+3709C>G - IntronicSNV - 2/8 1
8-108358009-G-A c.453+1161C>T - IntronicSNV - 2/8 1
8-108359453-C-T c.298-128G>A - IntronicSNV - 1/8 1
8-108360046-C-G c.298-721G>C - IntronicSNV - 1/8 1
8-108360046-C-T c.298-721G>A - IntronicSNV - 1/8 1
8-108363596-G-A c.298-4271C>T - IntronicSNV - 1/8 1
8-108364239-C-T c.298-4914G>A - IntronicSNV - 1/8 1
8-108364643-A-G c.298-5318T>C - IntronicSNV - 1/8 1
8-108366032-C-T c.298-6707G>A - IntronicSNV - 1/8 2
8-108366127-C-T c.298-6802G>A - IntronicSNV - 1/8 3
8-108366221-T-C c.298-6896A>G - IntronicSNV - 1/8 1
8-108368316-T-G c.298-8991A>C - IntronicSNV - 1/8 1
8-108369839-C-T c.298-10514G>A - IntronicSNV - 1/8 1
8-108371822-G-A c.298-12497C>T - IntronicSNV - 1/8 1
8-108372446-G-A c.298-13121C>T - IntronicSNV - 1/8 2
8-108377347-A-G c.298-18022T>C - IntronicSNV - 1/8 1
8-108377347-A-T c.298-18022T>A - IntronicSNV - 1/8 1
8-108377901-A-G c.298-18576T>C - IntronicSNV - 1/8 4
8-108378311-A-C c.298-18986T>G - IntronicSNV - 1/8 2
8-108378411-C-T c.298-19086G>A - IntronicSNV - 1/8 1
8-108378623-C-A c.298-19298G>T - IntronicSNV - 1/8 3
8-108378945-G-A c.298-19620C>T - IntronicSNV - 1/8 1
8-108379311-G-A c.298-19986C>T - IntronicSNV - 1/8 1
8-108383325-G-A c.298-24000C>T - IntronicSNV - 1/8 2
8-108383641-T-C c.298-24316A>G - IntronicSNV - 1/8 2
8-108385748-G-A c.298-26423C>T - IntronicSNV - 1/8 1
8-108386442-C-T c.298-27117G>A - IntronicSNV - 1/8 2
8-108387747-A-G c.298-28422T>C - IntronicSNV - 1/8 1
8-108388126-C-A c.298-28801G>T - IntronicSNV - 1/8 1
8-108388674-G-A c.298-29349C>T - IntronicSNV - 1/8 1
8-108389120-A-C c.298-29795T>G - IntronicSNV - 1/8 1
8-108389120-A-T c.298-29795T>A - IntronicSNV - 1/8 1
8-108389150-A-G c.298-29825T>C - IntronicSNV - 1/8 1
8-108389187-T-C c.298-29862A>G - IntronicSNV - 1/8 2
8-108390053-T-C c.298-30728A>G - IntronicSNV - 1/8 1
8-108392928-A-G c.298-33603T>C - IntronicSNV - 1/8 2
8-108392928-A-T c.298-33603T>A - IntronicSNV - 1/8 2
8-108393683-G-A c.298-34358C>T - IntronicSNV - 1/8 1
8-108393800-C-T c.298-34475G>A - IntronicSNV - 1/8 2
8-108394096-G-A c.298-34771C>T - IntronicSNV - 1/8 1
8-108395025-G-A c.298-35700C>T - IntronicSNV - 1/8 2
8-108395277-T-C c.298-35952A>G - IntronicSNV - 1/8 1
8-108396003-C-T c.298-36678G>A - IntronicSNV - 1/8 1
8-108398406-A-C c.298-39081T>G - IntronicSNV - 1/8 2
8-108398406-A-G c.298-39081T>C - IntronicSNV - 1/8 2
8-108400823-T-C c.298-41498A>G - IntronicSNV - 1/8 2
8-108400823-T-G c.298-41498A>C - IntronicSNV - 1/8 2
8-108401601-G-A c.298-42276C>T - IntronicSNV - 1/8 1
8-108401601-G-C c.298-42276C>G - IntronicSNV - 1/8 1
8-108401601-G-T c.298-42276C>A - IntronicSNV - 1/8 1
8-108403482-C-A c.298-44157G>T - IntronicSNV - 1/8 1
8-108403482-C-T c.298-44157G>A - IntronicSNV - 1/8 1
8-108407313-A-C c.298-47988T>G - IntronicSNV - 1/8 2
8-108407313-A-T c.298-47988T>A - IntronicSNV - 1/8 2
8-108408409-A-C c.298-49084T>G - IntronicSNV - 1/8 5
8-108409423-C-A c.298-50098G>T - IntronicSNV - 1/8 2
8-108409931-C-A c.298-50606G>T - IntronicSNV - 1/8 1
8-108409931-C-G c.298-50606G>C - IntronicSNV - 1/8 1
8-108411542-G-A c.298-52217C>T - IntronicSNV - 1/8 1
8-108416439-A-C c.298-57114T>G - IntronicSNV - 1/8 3
8-108416439-A-G c.298-57114T>C - IntronicSNV - 1/8 3
8-108420688-G-A c.298-61363C>T - IntronicSNV - 1/8 2
8-108422946-G-A c.298-63621C>T - IntronicSNV - 1/8 4
8-108424187-T-C c.298-64862A>G - IntronicSNV - 1/8 1
8-108424451-A-G c.298-65126T>C - IntronicSNV - 1/8 2
8-108427493-G-T c.298-68168C>A - IntronicSNV - 1/8 2
8-108427742-G-A c.298-68417C>T - IntronicSNV - 1/8 1
8-108427742-G-T c.298-68417C>A - IntronicSNV - 1/8 1
8-108427960-T-A c.298-68635A>T - IntronicSNV - 1/8 1
8-108427960-T-C c.298-68635A>G - IntronicSNV - 1/8 1
8-108431161-T-C c.298-71836A>G - IntronicSNV - 1/8 3
8-108432779-G-A c.298-73454C>T - IntronicSNV - 1/8 2
8-108432779-G-T c.298-73454C>A - IntronicSNV - 1/8 2
8-108434677-A-C c.297+74813T>G - IntronicSNV - 1/8 1
8-108434700-A-G c.297+74790T>C - IntronicSNV - 1/8 1
8-108437679-C-A c.297+71811G>T - IntronicSNV - 1/8 3
8-108438906-C-T c.297+70584G>A - IntronicSNV - 1/8 2
8-108439227-A-G c.297+70263T>C - IntronicSNV - 1/8 1
8-108439262-T-C c.297+70228A>G - IntronicSNV - 1/8 2
8-108439362-G-A c.297+70128C>T - IntronicSNV - 1/8 2
8-108439898-C-A c.297+69592G>T - IntronicSNV - 1/8 1
8-108440057-G-A c.297+69433C>T - IntronicSNV - 1/8 1
8-108440510-T-C c.297+68980A>G - IntronicSNV - 1/8 1
8-108440926-C-T c.297+68564G>A - IntronicSNV - 1/8 1
8-108441531-T-A c.297+67959A>T - IntronicSNV - 1/8 1
8-108441642-C-T c.297+67848G>A - IntronicSNV - 1/8 1
8-108445220-T-A c.297+64270A>T - IntronicSNV - 1/8 1
8-108445220-T-C c.297+64270A>G - IntronicSNV - 1/8 1
8-108445788-C-T c.297+63702G>A - IntronicSNV - 1/8 1
8-108445984-T-A c.297+63506A>T - IntronicSNV - 1/8 1
8-108445984-T-C c.297+63506A>G - IntronicSNV - 1/8 1
8-108446403-A-G c.297+63087T>C - IntronicSNV - 1/8 2
8-108447543-A-G c.297+61947T>C - IntronicSNV - 1/8 4
8-108447635-C-T c.297+61855G>A - IntronicSNV - 1/8 2
8-108449286-T-C c.297+60204A>G - IntronicSNV - 1/8 1
8-108449292-T-A c.297+60198A>T - IntronicSNV - 1/8 1
8-108452794-T-C c.297+56696A>G - IntronicSNV - 1/8 1
8-108453134-A-T c.297+56356T>A - IntronicSNV - 1/8 1
8-108454681-G-A c.297+54809C>T - IntronicSNV - 1/8 1
8-108456531-A-G c.297+52959T>C - IntronicSNV - 1/8 1
8-108456805-T-C c.297+52685A>G - IntronicSNV - 1/8 3
8-108457353-A-G c.297+52137T>C - IntronicSNV - 1/8 3
8-108458582-T-A c.297+50908A>T - IntronicSNV - 1/8 2
8-108458582-T-C c.297+50908A>G - IntronicSNV - 1/8 2
8-108459674-T-C c.297+49816A>G - IntronicSNV - 1/8 1
8-108460133-G-A c.297+49357C>T - IntronicSNV - 1/8 1
8-108461525-C-A c.297+47965G>T - IntronicSNV - 1/8 1
8-108461828-T-A c.297+47662A>T - IntronicSNV - 1/8 2
8-108461828-T-C c.297+47662A>G - IntronicSNV - 1/8 2
8-108462641-G-A c.297+46849C>T - IntronicSNV - 1/8 1
8-108463603-C-T c.297+45887G>A - IntronicSNV - 1/8 1
8-108463840-C-A c.297+45650G>T - IntronicSNV - 1/8 2
8-108463840-C-G c.297+45650G>C - IntronicSNV - 1/8 2
8-108463840-C-T c.297+45650G>A - IntronicSNV - 1/8 2
8-108464443-G-A c.297+45047C>T - IntronicSNV - 1/8 1
8-108464443-G-C c.297+45047C>G - IntronicSNV - 1/8 1
8-108466317-G-A c.297+43173C>T - IntronicSNV - 1/8 1
8-108466317-G-T c.297+43173C>A - IntronicSNV - 1/8 1
8-108472213-G-T c.297+37277C>A - IntronicSNV - 1/8 1
8-108472328-G-A c.297+37162C>T - IntronicSNV - 1/8 3
8-108476951-T-C c.297+32539A>G - IntronicSNV - 1/8 4
8-108484298-T-C c.297+25192A>G - IntronicSNV - 1/8 1
8-108485912-T-C c.297+23578A>G - IntronicSNV - 1/8 1
8-108489996-A-C c.297+19494T>G - IntronicSNV - 1/8 2
8-108490998-G-T c.297+18492C>A - IntronicSNV - 1/8 1
8-108494555-G-A c.297+14935C>T - IntronicSNV - 1/8 1
8-108495057-C-T c.297+14433G>A - IntronicSNV - 1/8 2
8-108499883-A-G c.297+9607T>C - IntronicSNV - 1/8 1
8-108502688-T-C c.297+6802A>G - IntronicSNV - 1/8 1
8-108503702-G-A c.297+5788C>T - IntronicSNV - 1/8 1
8-108503702-G-T c.297+5788C>A - IntronicSNV - 1/8 1
8-108505219-T-C c.297+4271A>G - IntronicSNV - 1/8 1
8-108507024-A-C c.297+2466T>G - IntronicSNV - 1/8 1
8-108507024-A-T c.297+2466T>A - IntronicSNV - 1/8 1