Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | holoprosencephaly 5 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Holoprosencephaly 5 | ClinVar | PMID:17274816 more ... | |
|
Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | holoprosencephaly 5 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Holoprosencephaly 5 | ClinVar | PMID:17274816 more ... | |
|
|
|
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | LncRNA H19 Aggravates Cerebral Ischemia/Reperfusion Injury by Functioning as a ceRNA for miR-19a-3p to Target PTEN. | Gao N, etal., Neuroscience. 2020 Jun 15;437:117-129. doi: 10.1016/j.neuroscience.2020.04.020. Epub 2020 Apr 24. |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
3. | MicroRNA-31 activates the RAS pathway and functions as an oncogenic MicroRNA in human colorectal cancer by repressing RAS p21 GTPase activating protein 1 (RASA1). | Sun D, etal., J Biol Chem. 2013 Mar 29;288(13):9508-18. doi: 10.1074/jbc.M112.367763. Epub 2013 Jan 15. |
4. | MicroRNA Microarray-Based Identification of Involvement of miR-155 and miR-19a in Development of Oral Lichen Planus (OLP) by Modulating Th1/Th2 Balance via Targeting eNOS and Toll-Like Receptor 2 (TLR2). | Wang L, etal., Med Sci Monit. 2018 May 29;24:3591-3603. doi: 10.12659/MSM.907497. |
PMID:11679670 | PMID:11914277 | PMID:12554860 | PMID:15126345 | PMID:16381832 | PMID:17604727 | PMID:17616659 | PMID:18632605 | PMID:18728182 | PMID:19538740 | PMID:20133739 | PMID:20167074 |
PMID:20299512 | PMID:20857258 | PMID:20940405 | PMID:21037258 | PMID:21059650 | PMID:21067317 | PMID:21271217 | PMID:22105995 | PMID:22362744 | PMID:22828869 | PMID:22952885 | PMID:23271053 |
PMID:23603256 | PMID:23621248 | PMID:23666757 | PMID:23795660 | PMID:23824915 | PMID:23894411 | PMID:24048714 | PMID:24117217 | PMID:24169826 | PMID:24192448 | PMID:24349422 | PMID:24360091 |
PMID:24378993 | PMID:24416156 | PMID:24427326 | PMID:24460313 | PMID:24675462 | PMID:24740298 | PMID:25107371 | PMID:25137071 | PMID:25220540 | PMID:25308476 | PMID:25362490 | PMID:25383678 |
PMID:25400827 | PMID:25443138 | PMID:25584808 | PMID:25589070 | PMID:25604748 | PMID:25785039 | PMID:25914465 | PMID:25934693 | PMID:25936765 | PMID:25982447 | PMID:25985117 | PMID:25985247 |
PMID:26017478 | PMID:26041742 | PMID:26041879 | PMID:26058752 | PMID:26098000 | PMID:26146958 | PMID:26239140 | PMID:26302825 | PMID:26352740 | PMID:26367773 | PMID:26416600 | PMID:26483345 |
PMID:26646931 | PMID:26762410 | PMID:26804172 | PMID:26822694 | PMID:27012708 | PMID:27035427 | PMID:27098600 | PMID:27150195 | PMID:27329239 | PMID:27409728 | PMID:27497158 | PMID:27581787 |
PMID:27666763 | PMID:27779660 | PMID:27830963 | PMID:27835866 | PMID:27991929 | PMID:28078022 | PMID:28081849 | PMID:28177881 | PMID:28214202 | PMID:28257633 | PMID:28276316 | PMID:28364280 |
PMID:28388587 | PMID:28431233 | PMID:28431267 | PMID:28475001 | PMID:28586153 | PMID:28592790 | PMID:28621611 | PMID:28765931 | PMID:28783539 | PMID:28798470 | PMID:28871004 | PMID:28935967 |
PMID:28986253 | PMID:29032147 | PMID:29130787 | PMID:29138858 | PMID:29207158 | PMID:29240449 | PMID:29332345 | PMID:29474434 | PMID:29477147 | PMID:29568890 | PMID:29575299 | PMID:29702193 |
PMID:29734189 | PMID:29783075 | PMID:30021351 | PMID:30073755 | PMID:30338791 | PMID:30370628 | PMID:30372881 | PMID:30521783 | PMID:30638858 | PMID:30720178 | PMID:30793479 | PMID:30888082 |
PMID:30996254 | PMID:31128038 | PMID:31247032 | PMID:31248594 | PMID:31266011 | PMID:31424647 | PMID:31513316 | PMID:31646884 | PMID:31682848 | PMID:31729887 | PMID:32004389 | PMID:32096172 |
PMID:32308549 | PMID:32329854 | PMID:32334458 | PMID:32373944 | PMID:32373949 | PMID:32487978 | PMID:32633395 | PMID:32949564 | PMID:33067424 | PMID:33099949 | PMID:33165673 | PMID:33215433 |
PMID:33338580 | PMID:33946718 | PMID:33983643 | PMID:34045678 | PMID:34051800 | PMID:34160893 | PMID:34187571 | PMID:34246626 | PMID:34512170 | PMID:34854011 | PMID:35266369 | PMID:35352515 |
PMID:35543855 | PMID:35599631 | PMID:35637792 | PMID:35759451 | PMID:36424716 | PMID:36555437 | PMID:36611927 | PMID:36912590 | PMID:37300685 | PMID:37400667 | PMID:37794714 | PMID:37821504 |
PMID:38149567 | PMID:38250607 | PMID:38583177 |
MIR19A (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mir19a (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mir19a (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
MIR19A (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
MIR19A (Sus scrofa - pig) |
|
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1 | copy number loss | See cases [RCV000050891] | Chr13:44967523..92738168 [GRCh38] Chr13:45541658..93390421 [GRCh37] Chr13:44439658..92188422 [NCBI36] Chr13:13q14.12-31.3 |
pathogenic |
GRCh38/hg38 13q22.3-32.1(chr13:78349126-94701844)x1 | copy number loss | See cases [RCV000051379] | Chr13:78349126..94701844 [GRCh38] Chr13:78923261..95354098 [GRCh37] Chr13:77821262..94152099 [NCBI36] Chr13:13q22.3-32.1 |
pathogenic |
GRCh38/hg38 13q31.1-34(chr13:82581008-114327173)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|See cases [RCV000051380] | Chr13:82581008..114327173 [GRCh38] Chr13:83155143..115085141 [GRCh37] Chr13:82053144..114110750 [NCBI36] Chr13:13q31.1-34 |
pathogenic |
GRCh38/hg38 13q31.1-32.1(chr13:83947821-95128969)x1 | copy number loss | See cases [RCV000051414] | Chr13:83947821..95128969 [GRCh38] Chr13:84521956..95781223 [GRCh37] Chr13:83419957..94579224 [NCBI36] Chr13:13q31.1-32.1 |
pathogenic |
GRCh38/hg38 13q31.2-32.1(chr13:88260962-97285754)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051415]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051415]|See cases [RCV000051415] | Chr13:88260962..97285754 [GRCh38] Chr13:88913217..97938008 [GRCh37] Chr13:87711218..96736009 [NCBI36] Chr13:13q31.2-32.1 |
pathogenic |
GRCh38/hg38 13q31.2-32.3(chr13:88323009-98888644)x1 | copy number loss | See cases [RCV000051416] | Chr13:88323009..98888644 [GRCh38] Chr13:88975264..99540898 [GRCh37] Chr13:87773265..98338899 [NCBI36] Chr13:13q31.2-32.3 |
pathogenic |
GRCh38/hg38 13q31.3-32.1(chr13:89549510-96657834)x1 | copy number loss | See cases [RCV000051417] | Chr13:89549510..96657834 [GRCh38] Chr13:90201764..97310088 [GRCh37] Chr13:88999765..96108089 [NCBI36] Chr13:13q31.3-32.1 |
pathogenic |
GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3 | copy number gain | See cases [RCV000051179] | Chr13:82032938..106082542 [GRCh38] Chr13:82607073..106734891 [GRCh37] Chr13:81505074..105532892 [NCBI36] Chr13:13q31.1-33.2 |
pathogenic |
GRCh38/hg38 13q31.3(chr13:90215412-91366486)x1 | copy number loss | See cases [RCV000051921] | Chr13:90215412..91366486 [GRCh38] Chr13:90867666..92018740 [GRCh37] Chr13:89665667..90816741 [NCBI36] Chr13:13q31.3 |
uncertain significance |
GRCh38/hg38 13q31.3(chr13:90973752-93097331)x1 | copy number loss | See cases [RCV000051922] | Chr13:90973752..93097331 [GRCh38] Chr13:91626006..93749584 [GRCh37] Chr13:90424007..92547585 [NCBI36] Chr13:13q31.3 |
uncertain significance |
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 | copy number gain | See cases [RCV000053726] | Chr13:18946182..114304628 [GRCh38] Chr13:19520322..115070103 [GRCh37] Chr13:18418322..114088205 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 | copy number gain | See cases [RCV000053731] | Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 | copy number gain | See cases [RCV000053719] | Chr13:18565048..114327173 [GRCh38] Chr13:19139188..115085141 [GRCh37] Chr13:18037188..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 | copy number gain | See cases [RCV000053723] | Chr13:18850545..114327173 [GRCh38] Chr13:19296527..115085141 [GRCh37] Chr13:18194527..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 | copy number gain | See cases [RCV000053759] | Chr13:33528097..114327173 [GRCh38] Chr13:34102234..115085141 [GRCh37] Chr13:33000234..114110750 [NCBI36] Chr13:13q13.2-34 |
pathogenic |
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 | copy number gain | See cases [RCV000053762] | Chr13:43219125..114327314 [GRCh38] Chr13:43793261..115085141 [GRCh37] Chr13:42691261..114110891 [NCBI36] Chr13:13q14.11-34 |
pathogenic |
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 | copy number gain | See cases [RCV000053764] | Chr13:44164751..114327173 [GRCh38] Chr13:44738887..115085141 [GRCh37] Chr13:43636887..114110750 [NCBI36] Chr13:13q14.11-34 |
pathogenic |
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 | copy number gain | See cases [RCV000053767] | Chr13:44733046..114327173 [GRCh38] Chr13:45307182..115085141 [GRCh37] Chr13:44205182..114110750 [NCBI36] Chr13:13q14.12-34 |
pathogenic |
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 | copy number gain | See cases [RCV000053770] | Chr13:74345951..114327314 [GRCh38] Chr13:74920088..115085141 [GRCh37] Chr13:73818089..114110891 [NCBI36] Chr13:13q22.1-34 |
pathogenic |
GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|See cases [RCV000053772] | Chr13:80628584..114327173 [GRCh38] Chr13:81202719..115085141 [GRCh37] Chr13:80100720..114110750 [NCBI36] Chr13:13q31.1-34 |
pathogenic |
GRCh37/hg19 13q31.3(chr13:90644219-92557099)x1 | copy number loss | See cases [RCV000234861] | Chr13:90644219..92557099 [GRCh37] Chr13:13q31.3 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 | copy number gain | See cases [RCV000134104] | Chr13:19833130..114298614 [GRCh38] Chr13:20407270..115064089 [GRCh37] Chr13:19305270..114082191 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 | copy number loss | See cases [RCV000135610] | Chr13:18445862..114327173 [GRCh38] Chr13:19020001..115085141 [GRCh37] Chr13:10098739..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q22.3-31.3(chr13:77061780-92460406)x1 | copy number loss | See cases [RCV000136886] | Chr13:77061780..92460406 [GRCh38] Chr13:77635915..93112659 [GRCh37] Chr13:76533916..91910660 [NCBI36] Chr13:13q22.3-31.3 |
pathogenic |
GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3 | copy number gain | See cases [RCV000137102] | Chr13:88937651..114327173 [GRCh38] Chr13:89589905..115085141 [GRCh37] Chr13:88387906..114110750 [NCBI36] Chr13:13q31.2-34 |
pathogenic |
GRCh38/hg38 13q31.1-31.3(chr13:84005264-92784013)x1 | copy number loss | See cases [RCV000137272] | Chr13:84005264..92784013 [GRCh38] Chr13:84579399..93436266 [GRCh37] Chr13:83477400..92234267 [NCBI36] Chr13:13q31.1-31.3 |
likely pathogenic |
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 | copy number loss | See cases [RCV000137893] | Chr13:40942298..114340331 [GRCh38] Chr13:41516434..115085141 [GRCh37] Chr13:40414434..114123908 [NCBI36] Chr13:13q14.11-34 |
pathogenic |
GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3 | copy number gain | See cases [RCV000138742] | Chr13:78999318..114327106 [GRCh38] Chr13:79573453..115085141 [GRCh37] Chr13:78471454..114110683 [NCBI36] Chr13:13q31.1-34 |
pathogenic |
GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1 | copy number loss | See cases [RCV000138340] | Chr13:86788927..114340331 [GRCh38] Chr13:87441182..115085141 [GRCh37] Chr13:86239183..114123908 [NCBI36] Chr13:13q31.1-34 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 | copy number gain | See cases [RCV000139078] | Chr13:19833130..114327106 [GRCh38] Chr13:20407270..115085141 [GRCh37] Chr13:19305270..114110683 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q31.2-32.3(chr13:87944479-99866542)x1 | copy number loss | See cases [RCV000139047] | Chr13:87944479..99866542 [GRCh38] Chr13:88596734..100518796 [GRCh37] Chr13:87394735..99316797 [NCBI36] Chr13:13q31.2-32.3 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 | copy number gain | See cases [RCV000140004] | Chr13:18456040..114340285 [GRCh38] Chr13:19030180..115105760 [GRCh37] Chr13:17928180..114123862 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3 | copy number gain | See cases [RCV000141248] | Chr13:78964223..114340331 [GRCh38] Chr13:79538358..115085141 [GRCh37] Chr13:78436359..114123908 [NCBI36] Chr13:13q31.1-34 |
pathogenic |
GRCh38/hg38 13q31.1-31.3(chr13:84052824-91838339)x3 | copy number gain | See cases [RCV000141994] | Chr13:84052824..91838339 [GRCh38] Chr13:84626959..92490593 [GRCh37] Chr13:83524960..91288594 [NCBI36] Chr13:13q31.1-31.3 |
uncertain significance |
GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3 | copy number gain | See cases [RCV000141804] | Chr13:83288131..114342258 [GRCh38] Chr13:83862266..115107733 [GRCh37] Chr13:82760267..114125835 [NCBI36] Chr13:13q31.1-34 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 | copy number gain | See cases [RCV000142924] | Chr13:19671934..114340331 [GRCh38] Chr13:20246074..115085141 [GRCh37] Chr13:19144074..114123908 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q31.3(chr13:91283077-91394459)x1 | copy number loss | See cases [RCV000143094] | Chr13:91283077..91394459 [GRCh38] Chr13:91935331..92046713 [GRCh37] Chr13:90733332..90844714 [NCBI36] Chr13:13q31.3 |
pathogenic |
GRCh38/hg38 13q31.3(chr13:91282882-91394459)x1 | copy number loss | See cases [RCV000143162] | Chr13:91282882..91394459 [GRCh38] Chr13:91935136..92046713 [GRCh37] Chr13:90733137..90844714 [NCBI36] Chr13:13q31.3 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 | copy number gain | See cases [RCV000143462] | Chr13:18862146..114342258 [GRCh38] Chr13:19436286..115107733 [GRCh37] Chr13:18334286..114125835 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 | copy number gain | See cases [RCV000148126] | Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1 | copy number loss | See cases [RCV000240161] | Chr13:89796110..115083342 [GRCh37] Chr13:13q31.2-34 |
pathogenic |
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 | copy number gain | See cases [RCV000240150] | Chr13:19571503..115092569 [GRCh37] Chr13:13q12.11-34 |
pathogenic |
GRCh37/hg19 13q31.3(chr13:91209639-94704856)x3 | copy number gain | See cases [RCV000240035] | Chr13:91209639..94704856 [GRCh37] Chr13:13q31.3 |
uncertain significance |
GRCh37/hg19 13q22.1-31.3(chr13:74459395-93481294)x1 | copy number loss | See cases [RCV000598789] | Chr13:74459395..93481294 [GRCh37] Chr13:13q22.1-31.3 |
pathogenic |
GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1 | copy number loss | See cases [RCV000449272] | Chr13:53551300..109850651 [GRCh37] Chr13:13q14.3-33.3 |
pathogenic |
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)x3 | copy number gain | See cases [RCV000449118] | Chr13:61424168..115107733 [GRCh37] Chr13:13q21.2-34 |
pathogenic |
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) | copy number gain | See cases [RCV000449142] | Chr13:19571503..115092510 [GRCh37] Chr13:13q12.11-34 |
pathogenic |
GRCh37/hg19 13q31.1-31.3(chr13:86963003-93390362)x3 | copy number gain | See cases [RCV000446248] | Chr13:86963003..93390362 [GRCh37] Chr13:13q31.1-31.3 |
pathogenic |
GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3 | copy number gain | See cases [RCV000447429] | Chr13:82221361..115092569 [GRCh37] Chr13:13q31.1-34 |
pathogenic |
GRCh37/hg19 13q21.1-34(chr13:56431743-115107733) | copy number gain | See cases [RCV000510722] | Chr13:56431743..115107733 [GRCh37] Chr13:13q21.1-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 | copy number gain | See cases [RCV000445886] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q31.1-33.1(chr13:81851091-102864674)x1 | copy number loss | See cases [RCV000448988] | Chr13:81851091..102864674 [GRCh37] Chr13:13q31.1-33.1 |
pathogenic |
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)x1 | copy number loss | See cases [RCV000448405] | Chr13:88073140..115107733 [GRCh37] Chr13:13q31.2-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436287-115107733) | copy number gain | See cases [RCV000510405] | Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4 | copy number gain | See cases [RCV000510281] | Chr13:71871468..115107733 [GRCh37] Chr13:13q21.33-34 |
pathogenic |
GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3 | copy number gain | See cases [RCV000510566] | Chr13:80058840..115107733 [GRCh37] Chr13:13q31.1-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 | copy number gain | See cases [RCV000511880] | Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q31.1-33.3(chr13:80572498-108719528)x1 | copy number loss | See cases [RCV000510890] | Chr13:80572498..108719528 [GRCh37] Chr13:13q31.1-33.3 |
pathogenic |
GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3 | copy number gain | See cases [RCV000512605] | Chr13:83435292..115107733 [GRCh37] Chr13:13q31.1-34 |
pathogenic |
GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3 | copy number gain | See cases [RCV000512571] | Chr13:53932358..96586363 [GRCh37] Chr13:13q14.3-32.1 |
pathogenic |
GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3 | copy number gain | See cases [RCV000512242] | Chr13:85176519..115107733 [GRCh37] Chr13:13q31.1-34 |
pathogenic |
Single allele | duplication | not provided [RCV000678035] | Chr13:91209639..94704856 [GRCh37] Chr13:13q31.3 |
likely pathogenic |
GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3 | copy number gain | not provided [RCV000683571] | Chr13:78590089..115107733 [GRCh37] Chr13:13q22.3-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 | copy number gain | not provided [RCV000738115] | Chr13:19058717..115103529 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q31.1-31.3(chr13:85005334-92461147)x1 | copy number loss | not provided [RCV000738268] | Chr13:85005334..92461147 [GRCh37] Chr13:13q31.1-31.3 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 | copy number gain | not provided [RCV000750643] | Chr13:19031237..115107157 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q21.1-31.3(chr13:57058434-94684615)x1 | copy number loss | not provided [RCV000750731] | Chr13:57058434..94684615 [GRCh37] Chr13:13q21.1-31.3 |
pathogenic |
GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3 | copy number gain | not provided [RCV000848025] | Chr13:61775567..115107733 [GRCh37] Chr13:13q21.2-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 | copy number gain | not provided [RCV000849129] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1 | copy number loss | not provided [RCV001006567] | Chr13:53262013..115107733 [GRCh37] Chr13:13q14.3-34 |
pathogenic |
GRCh37/hg19 13q31.3(chr13:91460305-92069153)x3 | copy number gain | not provided [RCV001006582] | Chr13:91460305..92069153 [GRCh37] Chr13:13q31.3 |
likely pathogenic |
GRCh37/hg19 13q31.3(chr13:91284502-92325104)x1 | copy number loss | See cases [RCV002285045] | Chr13:91284502..92325104 [GRCh37] Chr13:13q31.3 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 | copy number gain | See cases [RCV001353184] | Chr13:19053605..115108528 [GRCh37] Chr13:13q11-34 |
pathogenic |
NC_000013.10:g.(?_92002837)_(103343314_?)del | deletion | Holoprosencephaly 5 [RCV001388033] | Chr13:92002837..103343314 [GRCh37] Chr13:13q31.3-33.1 |
pathogenic |
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 | copy number gain | See cases [RCV001780076] | Chr13:1..115169878 [GRCh37] Chr13:13p13-q34 |
pathogenic |
GRCh37/hg19 13p13-q34(chr13:1-115169878) | copy number gain | Complete trisomy 13 syndrome [RCV002280659] | Chr13:1..115169878 [GRCh37] Chr13:13p13-q34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436286-115107733) | copy number gain | not specified [RCV002053036] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733) | copy number gain | not specified [RCV002053063] | Chr13:61424168..115107733 [GRCh37] Chr13:13q21.2-34 |
pathogenic |
GRCh37/hg19 13q31.1-34(chr13:79370012-115107733) | copy number loss | not specified [RCV002053072] | Chr13:79370012..115107733 [GRCh37] Chr13:13q31.1-34 |
pathogenic |
GRCh37/hg19 13q22.3-34(chr13:78514567-115107733) | copy number gain | not specified [RCV002053071] | Chr13:78514567..115107733 [GRCh37] Chr13:13q22.3-34 |
pathogenic |
GRCh37/hg19 13q31.1-34(chr13:85037147-115107733) | copy number gain | not specified [RCV002053073] | Chr13:85037147..115107733 [GRCh37] Chr13:13q31.1-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 | copy number gain | not provided [RCV001834436] | Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436286-114981726) | copy number gain | not specified [RCV002053035] | Chr13:19436286..114981726 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3 | copy number gain | not provided [RCV001829235] | Chr13:42504540..108206269 [GRCh37] Chr13:13q14.11-33.3 |
pathogenic |
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733) | copy number loss | not specified [RCV002053074] | Chr13:88073140..115107733 [GRCh37] Chr13:13q31.2-34 |
pathogenic |
GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3 | copy number gain | See cases [RCV002286354] | Chr13:89490345..115062235 [GRCh37] Chr13:13q31.2-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 | copy number gain | not provided [RCV002291540] | Chr13:19253848..115108937 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3 | copy number gain | not provided [RCV002472537] | Chr13:75268539..115107733 [GRCh37] Chr13:13q22.1-34 |
pathogenic |
GRCh37/hg19 13q31.2-33.2(chr13:89012420-106371634)x1 | copy number loss | not provided [RCV003483195] | Chr13:89012420..106371634 [GRCh37] Chr13:13q31.2-33.2 |
pathogenic |
GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1 | copy number loss | not provided [RCV003483192] | Chr13:82131211..115107733 [GRCh37] Chr13:13q31.1-34 |
pathogenic |
GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3 | copy number gain | not provided [RCV003484899] | Chr13:61534068..115107733 [GRCh37] Chr13:13q21.2-34 |
pathogenic |
GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3 | copy number gain | not provided [RCV003484901] | Chr13:73488238..115107733 [GRCh37] Chr13:13q22.1-34 |
pathogenic |
GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1 | copy number loss | not provided [RCV003483190] | Chr13:73132193..104595598 [GRCh37] Chr13:13q21.33-33.1 |
pathogenic |
GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1 | copy number loss | not specified [RCV003987038] | Chr13:84669397..115107733 [GRCh37] Chr13:13q31.1-34 |
pathogenic |
GRCh37/hg19 13q21.1-31.3(chr13:56450978-93582180)x1 | copy number loss | not specified [RCV003987013] | Chr13:56450978..93582180 [GRCh37] Chr13:13q21.1-31.3 |
pathogenic |
GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3 | copy number gain | not specified [RCV003987023] | Chr13:82876219..115107733 [GRCh37] Chr13:13q31.1-34 |
pathogenic |
GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1 | copy number loss | not specified [RCV003987008] | Chr13:49547974..98214905 [GRCh37] Chr13:13q14.2-32.2 |
pathogenic |
GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1 | copy number loss | not specified [RCV003987009] | Chr13:64825656..103641349 [GRCh37] Chr13:13q21.31-33.1 |
pathogenic |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
RefSeq Transcripts | NG_032702 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NR_029489 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB176708 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF480522 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF480554 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ421737 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL162375 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068265 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LM608162 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000384878 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NR_029489 | ||||||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:31574 | AgrOrtholog |
COSMIC | MIR19A | COSMIC |
Ensembl Genes | ENSG00000284204 | Ensembl, ENTREZGENE |
Ensembl Transcript | ENST00000384878 | ENTREZGENE |
GTEx | ENSG00000284204 | GTEx |
HGNC ID | HGNC:31574 | ENTREZGENE |
Human Proteome Map | MIR19A | Human Proteome Map |
miRBase | MI0000073 | ENTREZGENE |
NCBI Gene | 406979 | ENTREZGENE |
OMIM | 609418 | OMIM |
PharmGKB | PA164722572 | PharmGKB |
RNAcentral | URS000006FDD4 | RNACentral |
URS00001754CF | RNACentral | |
URS0000539083 | RNACentral |