ABAT (4-aminobutyrate aminotransferase) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: ABAT (4-aminobutyrate aminotransferase) Homo sapiens
Analyze
Symbol: ABAT
Name: 4-aminobutyrate aminotransferase
RGD ID: 732065
HGNC Page HGNC
Description: Exhibits identical protein binding activity and pyridoxal phosphate binding activity. Contributes to 4-aminobutyrate transaminase activity. Involved in gamma-aminobutyric acid metabolic process. Localizes to 4-aminobutyrate transaminase complex and mitochondrion. Implicated in Alzheimer's disease; GABA aminotransferase deficiency; and Huntington's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: (S)-3-amino-2-methylpropionate transaminase; 4-aminobutyrate aminotransferase, mitochondrial; 4-aminobutyrate transaminase; FLJ17813; FLJ30272; GABA aminotransferase; GABA transaminase; GABA transferase; GABA-AT; GABAT; gamma-amino-N-butyrate transaminase; gamma-aminobutyrate aminotransferase; hCG1984265; NPD009
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl168,674,596 - 8,784,575 (+)EnsemblGRCh38hg38GRCh38
GRCh38168,674,617 - 8,784,570 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37168,768,474 - 8,878,427 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36168,675,928 - 8,785,933 (+)NCBINCBI36hg18NCBI36
Build 34168,675,945 - 8,785,932NCBI
Celera168,937,805 - 9,047,806 (+)NCBI
Cytogenetic Map16p13.2NCBI
HuRef168,691,116 - 8,800,895 (+)NCBIHuRef
CHM1_1168,768,357 - 8,878,342 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(aminooxy)acetic acid  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
1-bromopropane  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP,ISO)
aflatoxin B2  (EXP)
all-trans-retinoic acid  (EXP)
amitriptyline  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
Brodifacoum  (ISO)
butanal  (EXP)
Butylparaben  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cocaine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP,ISO)
cypermethrin  (ISO)
dexamethasone  (EXP)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
disulfiram  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
enzacamene  (ISO)
ethanol  (ISO)
finasteride  (ISO)
folic acid  (ISO)
furan  (ISO)
gamma-aminobutyric acid  (EXP,ISO)
genistein  (EXP)
glafenine  (ISO)
L-methionine  (ISO)
leflunomide  (EXP)
lithium chloride  (EXP)
methapyrilene  (EXP,ISO)
N-nitrosodimethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nefazodone  (ISO)
nimesulide  (ISO)
O-methyleugenol  (EXP)
ochratoxin A  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
pentanal  (EXP)
pentetrazol  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
permethrin  (ISO)
phenylmercury acetate  (EXP)
phlorizin  (ISO)
pioglitazone  (ISO)
pirinixic acid  (EXP,ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
propanal  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sunitinib  (EXP)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vigabatrin  (EXP,ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
1. Briggs SW, etal., Epilepsia. 2014 Jan;55(1):94-102. doi: 10.1111/epi.12424. Epub 2013 Oct 28.
2. Brozoski TJ, etal., J Assoc Res Otolaryngol. 2007 Mar;8(1):105-18. Epub 2007 Jan 13.
3. Carter CJ Neurosci Lett. 1984 Aug 10;48(3):339-42.
4. Coscina DV and Nobrega JN, Int J Obes. 1984;8 Suppl 1:191-200.
5. Dieb W and Hafidi A, Eur J Pain. 2014 May 28. doi: 10.1002/ejp.525.
6. Engelborghs S, etal., Arzneimittelforschung. 1998 Jul;48(7):713-6.
7. GOA_HUMAN data from the GO Consortium
8. Honda M, etal., Kobe J Med Sci. 1998 Feb;44(1):1-8.
9. KEGG
10. Kobayashi N, etal., Exp Eye Res. 1999 Jul;69(1):91-6.
11. Mecarelli O, etal., Pharmacol Res. 1997 Aug;36(2):87-93.
12. Miller JW, etal., Epilepsia. 1989 Jul-Aug;30(4):493-500.
13. Mishra N, etal., J Ethnopharmacol. 2010 Mar 24;128(2):533-6. doi: 10.1016/j.jep.2010.01.042. Epub 2010 Jan 28.
14. Nasreen Z, etal., Neurochem Res. 2012 Jan;37(1):202-4. doi: 10.1007/s11064-011-0603-2. Epub 2011 Sep 21.
15. OMIM Disease Annotation Pipeline
16. Pan Y, etal., J Med Chem. 2012 Jan 12;55(1):357-66. doi: 10.1021/jm201231w. Epub 2011 Dec 30.
17. Pipeline to import KEGG annotations from KEGG into RGD
18. Pipeline to import SMPDB annotations from SMPDB into RGD
19. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
20. RGD automated import pipeline for gene-chemical interactions
21. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
22. Robin MM, etal., Eur J Pharmacol. 1980 Apr 4;62(4):319-27.
23. Schwarcz R, etal., Ann Neurol. 1977 Oct;2(4):299-303.
24. Seiler N, etal., Pharmacol Biochem Behav. 1995 Feb;50(2):181-9.
25. Sherif F, etal., J Neural Transm Park Dis Dement Sect. 1992;4(3):227-40.
26. Singewald N, etal., Naunyn Schmiedebergs Arch Pharmacol. 1992 Feb;345(2):181-6.
27. Skirzewski M, etal., Neuroscience. 2011 Nov 24;196:131-46. doi: 10.1016/j.neuroscience.2011.08.058. Epub 2011 Aug 30.
28. Wang QP, etal., Eur J Neurosci. 2008 Apr;27(8):2177-87. doi: 10.1111/j.1460-9568.2008.06175.x.
29. Xi ZX and Stein EA, J Pharmacol Exp Ther. 2000 Aug;294(2):613-9.
30. Yu X, etal., Life Sci. 2012 Jul 26;91(1-2):5-13. doi: 10.1016/j.lfs.2012.05.005. Epub 2012 May 23.
Additional References at PubMed
PMID:6148708   PMID:6470007   PMID:7305280   PMID:7721088   PMID:7851425   PMID:10407778   PMID:10951220   PMID:11181995   PMID:11256614   PMID:11918424   PMID:12477932   PMID:12694932  
PMID:14702039   PMID:15489334   PMID:15528998   PMID:15642443   PMID:15650327   PMID:15830322   PMID:16344560   PMID:17474147   PMID:18334916   PMID:19598235   PMID:20052547   PMID:20379614  
PMID:20659789   PMID:20677014   PMID:20877624   PMID:21552517   PMID:21873635   PMID:22225676   PMID:23376485   PMID:23824909   PMID:24489884   PMID:24639526   PMID:24722188   PMID:25485164  
PMID:25771305   PMID:26186194   PMID:26344197   PMID:28514442   PMID:28611215   PMID:29517884   PMID:30277654   PMID:31056398   PMID:31536960  


Genomics

Comparative Map Data
ABAT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl168,674,596 - 8,784,575 (+)EnsemblGRCh38hg38GRCh38
GRCh38168,674,617 - 8,784,570 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37168,768,474 - 8,878,427 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36168,675,928 - 8,785,933 (+)NCBINCBI36hg18NCBI36
Build 34168,675,945 - 8,785,932NCBI
Celera168,937,805 - 9,047,806 (+)NCBI
Cytogenetic Map16p13.2NCBI
HuRef168,691,116 - 8,800,895 (+)NCBIHuRef
CHM1_1168,768,357 - 8,878,342 (+)NCBICHM1_1
Abat
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39168,331,293 - 8,439,432 (+)NCBIGRCm39mm39
GRCm39 Ensembl168,331,293 - 8,439,432 (+)Ensembl
GRCm38168,513,429 - 8,621,568 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl168,513,429 - 8,621,568 (+)EnsemblGRCm38mm10GRCm38
MGSCv37168,513,522 - 8,621,661 (+)NCBIGRCm37mm9NCBIm37
MGSCv36168,428,810 - 8,536,889 (+)NCBImm8
Celera169,158,444 - 9,266,822 (+)NCBICelera
Cytogenetic Map16A1NCBI
Abat
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2106,996,688 - 7,092,835 (-)NCBI
Rnor_6.0 Ensembl107,093,405 - 7,200,499 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0107,093,406 - 7,200,439 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0105,894,187 - 6,002,068 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4107,040,725 - 7,137,154 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1107,040,724 - 7,137,154 (-)NCBI
Celera105,995,207 - 6,088,218 (-)NCBICelera
Cytogenetic Map10q12NCBI
Abat
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554429,422,849 - 9,516,103 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554429,422,849 - 9,516,054 (-)NCBIChiLan1.0ChiLan1.0
ABAT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1168,850,010 - 8,958,420 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl168,888,178 - 8,958,420 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0167,609,282 - 7,718,049 (+)NCBIMhudiblu_PPA_v0panPan3
ABAT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1633,385,779 - 33,471,348 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl633,376,996 - 33,471,326 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha634,776,452 - 34,862,027 (-)NCBI
ROS_Cfam_1.0633,584,479 - 33,670,069 (-)NCBI
UMICH_Zoey_3.1633,386,823 - 33,472,421 (-)NCBI
UNSW_CanFamBas_1.0633,256,654 - 33,342,147 (-)NCBI
UU_Cfam_GSD_1.0633,678,493 - 33,764,059 (-)NCBI
Abat
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344109,698,256 - 109,775,982 (+)NCBI
SpeTri2.0NW_0049365307,543,743 - 7,621,392 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABAT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl333,908,965 - 34,015,469 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1333,913,068 - 33,960,804 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2334,642,449 - 34,682,257 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ABAT
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.158,274,310 - 8,380,973 (+)NCBI
ChlSab1.1 Ensembl58,315,952 - 8,379,549 (+)Ensembl
Abat
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248246,112,644 - 6,202,936 (+)NCBI

Position Markers
D16S3020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37168,866,079 - 8,866,174UniSTSGRCh37
Build 36168,773,580 - 8,773,675RGDNCBI36
Celera169,035,468 - 9,035,559RGD
Cytogenetic Map16p13.2UniSTS
HuRef168,788,539 - 8,788,620UniSTS
Marshfield Genetic Map1616.97RGD
Marshfield Genetic Map1616.97UniSTS
Genethon Genetic Map1615.6UniSTS
Stanford-G3 RH Map16375.0UniSTS
NCBI RH Map1673.7UniSTS
GeneMap99-G3 RH Map16335.0UniSTS
SHGC-2882  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37168,863,815 - 8,863,944UniSTSGRCh37
Build 36168,771,316 - 8,771,445RGDNCBI36
Celera169,033,205 - 9,033,334RGD
Cytogenetic Map16p13.2UniSTS
HuRef168,786,276 - 8,786,405UniSTS
TNG Radiation Hybrid Map164224.0UniSTS
RH69040  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37168,875,220 - 8,875,347UniSTSGRCh37
Build 36168,782,721 - 8,782,848RGDNCBI36
Celera169,044,594 - 9,044,721RGD
Cytogenetic Map16p13.2UniSTS
HuRef168,797,683 - 8,797,810UniSTS
GeneMap99-GB4 RH Map1694.15UniSTS
NCBI RH Map1626.8UniSTS
RH65230  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37168,788,222 - 8,788,342UniSTSGRCh37
Build 36168,695,723 - 8,695,843RGDNCBI36
Celera168,957,591 - 8,957,711RGD
Cytogenetic Map16p13.2UniSTS
HuRef168,710,900 - 8,711,020UniSTS
SHGC-81875  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37168,877,613 - 8,877,822UniSTSGRCh37
Build 36168,785,114 - 8,785,323RGDNCBI36
Celera169,046,987 - 9,047,196RGD
Cytogenetic Map16p13.2UniSTS
HuRef168,800,076 - 8,800,285UniSTS
TNG Radiation Hybrid Map164235.0UniSTS
SHGC-105769  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37168,870,002 - 8,870,280UniSTSGRCh37
Build 36168,777,503 - 8,777,781RGDNCBI36
Celera169,039,380 - 9,039,658RGD
Cytogenetic Map16p13.2UniSTS
HuRef168,792,468 - 8,792,746UniSTS
TNG Radiation Hybrid Map164217.0UniSTS
SHGC-151184  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37168,865,796 - 8,866,071UniSTSGRCh37
Build 36168,773,297 - 8,773,572RGDNCBI36
Celera169,035,185 - 9,035,460RGD
Cytogenetic Map16p13.2UniSTS
HuRef168,788,256 - 8,788,531UniSTS
TNG Radiation Hybrid Map157280.0UniSTS
TNG Radiation Hybrid Map164214.0UniSTS
SHGC-152297  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37168,865,796 - 8,866,132UniSTSGRCh37
Build 36168,773,297 - 8,773,633RGDNCBI36
Celera169,035,185 - 9,035,521RGD
Cytogenetic Map16p13.2UniSTS
HuRef168,788,256 - 8,788,592UniSTS
TNG Radiation Hybrid Map922930.0UniSTS
G19624  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37168,878,205 - 8,878,396UniSTSGRCh37
Build 36168,785,706 - 8,785,897RGDNCBI36
Celera169,047,579 - 9,047,770RGD
Cytogenetic Map16p13.2UniSTS
HuRef168,800,668 - 8,800,859UniSTS
A001T16  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37168,878,205 - 8,878,396UniSTSGRCh37
Build 36168,785,706 - 8,785,897RGDNCBI36
Celera169,047,579 - 9,047,770RGD
Cytogenetic Map16p13.2UniSTS
HuRef168,800,668 - 8,800,859UniSTS
GeneMap99-GB4 RH Map1692.83UniSTS
SHGC-153405  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37168,782,956 - 8,783,238UniSTSGRCh37
Build 36168,690,457 - 8,690,739RGDNCBI36
Celera168,952,325 - 8,952,607RGD
Cytogenetic Map16p13.2UniSTS
HuRef168,705,634 - 8,705,916UniSTS
TNG Radiation Hybrid Map164188.0UniSTS
SHGC-156252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37168,783,199 - 8,783,477UniSTSGRCh37
Build 36168,690,700 - 8,690,978RGDNCBI36
Celera168,952,568 - 8,952,846RGD
Cytogenetic Map16p13.2UniSTS
HuRef168,705,877 - 8,706,155UniSTS
TNG Radiation Hybrid Map164188.0UniSTS
SHGC-52448  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37168,813,177 - 8,813,390UniSTSGRCh37
Build 36168,720,678 - 8,720,891RGDNCBI36
Celera168,982,569 - 8,982,782RGD
Cytogenetic Map16p13.2UniSTS
HuRef168,735,552 - 8,735,765UniSTS
TNG Radiation Hybrid Map164196.0UniSTS
GeneMap99-G3 RH Map16331.0UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6337
Count of miRNA genes:1357
Interacting mature miRNAs:1758
Transcripts:ENST00000268251, ENST00000396600, ENST00000425191, ENST00000561870, ENST00000562115, ENST00000563215, ENST00000563992, ENST00000564453, ENST00000564714, ENST00000565016, ENST00000565671, ENST00000566590, ENST00000567812, ENST00000568847, ENST00000569156, ENST00000569695
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 350 420 1466 439 137 427 704 216 3542 184 721 713 15 8 687
Low 2067 2481 251 179 1763 33 3506 1798 177 221 701 849 156 1196 1983 3
Below cutoff 14 83 7 4 47 4 142 179 14 13 24 43 1 1 118 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA806200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF237813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG749438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG818982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI459888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI602086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA228305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA300126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA531116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB443567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB479117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC335224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ535005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L32961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S75578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U80226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000268251   ⟹   ENSP00000268251
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl168,674,617 - 8,784,570 (+)Ensembl
RefSeq Acc Id: ENST00000396600   ⟹   ENSP00000379845
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl168,712,969 - 8,784,575 (+)Ensembl
RefSeq Acc Id: ENST00000425191   ⟹   ENSP00000411916
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl168,720,716 - 8,781,590 (+)Ensembl
RefSeq Acc Id: ENST00000561870   ⟹   ENSP00000456267
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl168,712,955 - 8,748,135 (+)Ensembl
RefSeq Acc Id: ENST00000562115   ⟹   ENSP00000455502
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl168,720,822 - 8,757,804 (+)Ensembl
RefSeq Acc Id: ENST00000563215
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl168,713,362 - 8,715,633 (+)Ensembl
RefSeq Acc Id: ENST00000563992
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl168,674,617 - 8,737,473 (+)Ensembl
RefSeq Acc Id: ENST00000564453
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl168,765,785 - 8,768,846 (+)Ensembl
RefSeq Acc Id: ENST00000564714   ⟹   ENSP00000456392
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl168,674,596 - 8,750,456 (+)Ensembl
RefSeq Acc Id: ENST00000565016   ⟹   ENSP00000454415
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl168,713,601 - 8,750,485 (+)Ensembl
RefSeq Acc Id: ENST00000565671
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl168,746,002 - 8,760,429 (+)Ensembl
RefSeq Acc Id: ENST00000566590   ⟹   ENSP00000455198
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl168,712,990 - 8,781,531 (+)Ensembl
RefSeq Acc Id: ENST00000567812   ⟹   ENSP00000456330
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl168,713,614 - 8,781,579 (+)Ensembl
RefSeq Acc Id: ENST00000568847   ⟹   ENSP00000455184
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl168,712,837 - 8,746,025 (+)Ensembl
RefSeq Acc Id: ENST00000569156   ⟹   ENSP00000454963
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl168,720,719 - 8,781,522 (+)Ensembl
RefSeq Acc Id: ENST00000569695
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl168,712,968 - 8,713,865 (+)Ensembl
RefSeq Acc Id: NM_000663   ⟹   NP_000654
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,713,580 - 8,784,570 (+)NCBI
GRCh37168,768,444 - 8,878,432 (+)ENTREZGENE
Build 36168,714,450 - 8,785,933 (+)NCBI Archive
HuRef168,691,116 - 8,800,895 (+)ENTREZGENE
CHM1_1168,806,735 - 8,878,342 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001127448   ⟹   NP_001120920
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,720,713 - 8,784,570 (+)NCBI
GRCh37168,768,444 - 8,878,432 (+)ENTREZGENE
HuRef168,691,116 - 8,800,895 (+)ENTREZGENE
CHM1_1168,814,482 - 8,878,342 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386600   ⟹   NP_001373529
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,712,949 - 8,784,570 (+)NCBI
RefSeq Acc Id: NM_001386601   ⟹   NP_001373530
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,720,713 - 8,784,570 (+)NCBI
RefSeq Acc Id: NM_001386602   ⟹   NP_001373531
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,674,617 - 8,784,570 (+)NCBI
RefSeq Acc Id: NM_001386603   ⟹   NP_001373532
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,712,837 - 8,784,570 (+)NCBI
RefSeq Acc Id: NM_001386604   ⟹   NP_001373533
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,712,949 - 8,784,570 (+)NCBI
RefSeq Acc Id: NM_001386605   ⟹   NP_001373534
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,674,617 - 8,784,570 (+)NCBI
RefSeq Acc Id: NM_001386606   ⟹   NP_001373535
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,713,580 - 8,784,570 (+)NCBI
RefSeq Acc Id: NM_001386607   ⟹   NP_001373536
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,674,617 - 8,784,570 (+)NCBI
RefSeq Acc Id: NM_001386608   ⟹   NP_001373537
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,674,617 - 8,784,570 (+)NCBI
RefSeq Acc Id: NM_001386609   ⟹   NP_001373538
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,674,617 - 8,784,570 (+)NCBI
RefSeq Acc Id: NM_001386610   ⟹   NP_001373539
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,674,617 - 8,784,570 (+)NCBI
RefSeq Acc Id: NM_001386611   ⟹   NP_001373540
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,674,617 - 8,784,570 (+)NCBI
RefSeq Acc Id: NM_001386612   ⟹   NP_001373541
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,674,617 - 8,784,570 (+)NCBI
RefSeq Acc Id: NM_001386613   ⟹   NP_001373542
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,713,580 - 8,784,570 (+)NCBI
RefSeq Acc Id: NM_001386614   ⟹   NP_001373543
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,674,617 - 8,784,570 (+)NCBI
RefSeq Acc Id: NM_001386615   ⟹   NP_001373544
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,674,617 - 8,784,570 (+)NCBI
RefSeq Acc Id: NM_001386616   ⟹   NP_001373545
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,720,713 - 8,784,570 (+)NCBI
RefSeq Acc Id: NM_020686   ⟹   NP_065737
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,674,617 - 8,784,570 (+)NCBI
GRCh37168,768,444 - 8,878,432 (+)NCBI
Build 36168,675,928 - 8,785,933 (+)NCBI Archive
HuRef168,691,116 - 8,800,895 (+)ENTREZGENE
CHM1_1168,768,357 - 8,878,342 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000654 (Get FASTA)   NCBI Sequence Viewer  
  NP_001120920 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373529 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373530 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373531 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373532 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373533 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373534 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373535 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373536 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373537 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373538 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373539 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373540 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373541 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373542 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373543 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373544 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373545 (Get FASTA)   NCBI Sequence Viewer  
  NP_065737 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA74449 (Get FASTA)   NCBI Sequence Viewer  
  AAB38510 (Get FASTA)   NCBI Sequence Viewer  
  AAD14176 (Get FASTA)   NCBI Sequence Viewer  
  AAG09758 (Get FASTA)   NCBI Sequence Viewer  
  AAH15628 (Get FASTA)   NCBI Sequence Viewer  
  AAH31413 (Get FASTA)   NCBI Sequence Viewer  
  AHW56398 (Get FASTA)   NCBI Sequence Viewer  
  AHW56644 (Get FASTA)   NCBI Sequence Viewer  
  BAF83190 (Get FASTA)   NCBI Sequence Viewer  
  BAH11640 (Get FASTA)   NCBI Sequence Viewer  
  EAW85207 (Get FASTA)   NCBI Sequence Viewer  
  EAW85208 (Get FASTA)   NCBI Sequence Viewer  
  EAW85209 (Get FASTA)   NCBI Sequence Viewer  
  P80404 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_065737   ⟸   NM_020686
- Peptide Label: isoform 1 precursor
- UniProtKB: P80404 (UniProtKB/Swiss-Prot),   X5D8S1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000654   ⟸   NM_000663
- Peptide Label: isoform 1 precursor
- UniProtKB: P80404 (UniProtKB/Swiss-Prot),   X5D8S1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001120920   ⟸   NM_001127448
- Peptide Label: isoform 1 precursor
- UniProtKB: P80404 (UniProtKB/Swiss-Prot),   X5D8S1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000411916   ⟸   ENST00000425191
RefSeq Acc Id: ENSP00000268251   ⟸   ENST00000268251
RefSeq Acc Id: ENSP00000456267   ⟸   ENST00000561870
RefSeq Acc Id: ENSP00000455502   ⟸   ENST00000562115
RefSeq Acc Id: ENSP00000456392   ⟸   ENST00000564714
RefSeq Acc Id: ENSP00000454415   ⟸   ENST00000565016
RefSeq Acc Id: ENSP00000455198   ⟸   ENST00000566590
RefSeq Acc Id: ENSP00000456330   ⟸   ENST00000567812
RefSeq Acc Id: ENSP00000379845   ⟸   ENST00000396600
RefSeq Acc Id: ENSP00000455184   ⟸   ENST00000568847
RefSeq Acc Id: ENSP00000454963   ⟸   ENST00000569156
RefSeq Acc Id: NP_001373531   ⟸   NM_001386602
- Peptide Label: isoform 1 precursor
RefSeq Acc Id: NP_001373544   ⟸   NM_001386615
- Peptide Label: isoform 10 precursor
RefSeq Acc Id: NP_001373538   ⟸   NM_001386609
- Peptide Label: isoform 5 precursor
RefSeq Acc Id: NP_001373534   ⟸   NM_001386605
- Peptide Label: isoform 2 precursor
RefSeq Acc Id: NP_001373536   ⟸   NM_001386607
- Peptide Label: isoform 3 precursor
RefSeq Acc Id: NP_001373537   ⟸   NM_001386608
- Peptide Label: isoform 4 precursor
RefSeq Acc Id: NP_001373539   ⟸   NM_001386610
- Peptide Label: isoform 6 precursor
RefSeq Acc Id: NP_001373543   ⟸   NM_001386614
- Peptide Label: isoform 9 precursor
RefSeq Acc Id: NP_001373540   ⟸   NM_001386611
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001373541   ⟸   NM_001386612
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001373532   ⟸   NM_001386603
- Peptide Label: isoform 1 precursor
RefSeq Acc Id: NP_001373529   ⟸   NM_001386600
- Peptide Label: isoform 1 precursor
RefSeq Acc Id: NP_001373533   ⟸   NM_001386604
- Peptide Label: isoform 1 precursor
RefSeq Acc Id: NP_001373535   ⟸   NM_001386606
- Peptide Label: isoform 3 precursor
RefSeq Acc Id: NP_001373542   ⟸   NM_001386613
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001373530   ⟸   NM_001386601
- Peptide Label: isoform 1 precursor
RefSeq Acc Id: NP_001373545   ⟸   NM_001386616
- Peptide Label: isoform 11 precursor

Promoters
RGD ID:7231271
Promoter ID:EPDNEW_H21382
Type:initiation region
Name:ABAT_1
Description:4-aminobutyrate aminotransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21383  EPDNEW_H21381  EPDNEW_H21385  EPDNEW_H21384  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,674,621 - 8,674,681EPDNEW
RGD ID:6792733
Promoter ID:HG_KWN:22976
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000109648
Position:
Human AssemblyChrPosition (strand)Source
Build 36168,675,806 - 8,676,306 (+)MPROMDB
RGD ID:7231273
Promoter ID:EPDNEW_H21383
Type:initiation region
Name:ABAT_4
Description:4-aminobutyrate aminotransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21382  EPDNEW_H21381  EPDNEW_H21385  EPDNEW_H21384  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,712,985 - 8,713,045EPDNEW
RGD ID:7231279
Promoter ID:EPDNEW_H21384
Type:single initiation site
Name:ABAT_2
Description:4-aminobutyrate aminotransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21382  EPDNEW_H21383  EPDNEW_H21381  EPDNEW_H21385  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,716,071 - 8,716,131EPDNEW
RGD ID:7231277
Promoter ID:EPDNEW_H21385
Type:initiation region
Name:ABAT_3
Description:4-aminobutyrate aminotransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21382  EPDNEW_H21383  EPDNEW_H21381  EPDNEW_H21384  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,720,729 - 8,720,789EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020686.6(ABAT):c.659G>A (p.Arg220Lys) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000017603] Chr16:8768248 [GRCh38]
Chr16:8862105 [GRCh37]
Chr16:16p13.2
pathogenic
ABAT, 3-PRIME DELETION deletion Gamma-aminobutyric acid transaminase deficiency [RCV000017604] Chr16:16p13.3 pathogenic
NM_020686.6(ABAT):c.668-3C>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000545803] Chr16:8768822 [GRCh38]
Chr16:8862679 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.1233C>T (p.Ala411=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000525227] Chr16:8776454 [GRCh38]
Chr16:8870311 [GRCh37]
Chr16:16p13.2
likely benign
GRCh38/hg38 16p13.2(chr16:8767999-8939801)x1 copy number loss See cases [RCV000051149] Chr16:8767999..8939801 [GRCh38]
Chr16:8861856..9033658 [GRCh37]
Chr16:8769357..8941159 [NCBI36]
Chr16:16p13.2
uncertain significance
GRCh38/hg38 16p13.2(chr16:8677203-9562709)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052399]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052399]|See cases [RCV000052399] Chr16:8677203..9562709 [GRCh38]
Chr16:8771060..9656566 [GRCh37]
Chr16:8678561..9564067 [NCBI36]
Chr16:16p13.2
pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13
pathogenic
GRCh38/hg38 16p13.2(chr16:8752152-8979353)x1 copy number loss See cases [RCV000051999] Chr16:8752152..8979353 [GRCh38]
Chr16:8846009..9073210 [GRCh37]
Chr16:8753510..8980711 [NCBI36]
Chr16:16p13.2
uncertain significance
GRCh38/hg38 16p13.3-13.13(chr16:4536131-10852466)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|See cases [RCV000053274] Chr16:4536131..10852466 [GRCh38]
Chr16:4586132..10946323 [GRCh37]
Chr16:4526133..10853824 [NCBI36]
Chr16:16p13.3-13.13
pathogenic
GRCh38/hg38 16p13.2(chr16:8544481-8903449)x3 copy number gain See cases [RCV000053823] Chr16:8544481..8903449 [GRCh38]
Chr16:8594483..8997306 [GRCh37]
Chr16:8534484..8904807 [NCBI36]
Chr16:16p13.2
uncertain significance
GRCh38/hg38 16p13.2(chr16:8752152-9094202)x3 copy number gain See cases [RCV000053824] Chr16:8752152..9094202 [GRCh38]
Chr16:8846009..9188059 [GRCh37]
Chr16:8753510..9095560 [NCBI36]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.709G>A (p.Asp237Asn) single nucleotide variant not provided [RCV000171244] Chr16:8768866 [GRCh38]
Chr16:8862723 [GRCh37]
Chr16:16p13.2
likely pathogenic
NM_020686.6(ABAT):c.684G>A (p.Thr228=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000635273]|not specified [RCV000174149] Chr16:8768841 [GRCh38]
Chr16:8862698 [GRCh37]
Chr16:16p13.2
benign
NM_020686.6(ABAT):c.816+7C>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001082449]|not provided [RCV000710068]|not specified [RCV000174151] Chr16:8768980 [GRCh38]
Chr16:8862837 [GRCh37]
Chr16:16p13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000663.4(ABAT):c.199-?_316+?del deletion Gamma-aminobutyric acid transaminase deficiency [RCV000149901]   pathogenic
NM_020686.6(ABAT):c.954+16C>T single nucleotide variant not provided [RCV000514396] Chr16:8772933 [GRCh38]
Chr16:8866790 [GRCh37]
Chr16:16p13.2
likely benign
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2
pathogenic
NM_020686.6(ABAT):c.678G>A (p.Ala226=) single nucleotide variant not provided [RCV000174150] Chr16:8768835 [GRCh38]
Chr16:8862692 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.1157C>T (p.Pro386Leu) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001055246]|not provided [RCV000174789] Chr16:8776378 [GRCh38]
Chr16:8870235 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13
pathogenic
GRCh38/hg38 16p13.2(chr16:8241222-9770190)x3 copy number gain See cases [RCV000136549] Chr16:8241222..9770190 [GRCh38]
Chr16:8291224..9864047 [GRCh37]
Chr16:8231225..9771548 [NCBI36]
Chr16:16p13.2
uncertain significance
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12
pathogenic
GRCh38/hg38 16p13.2(chr16:8579327-9143148)x3 copy number gain See cases [RCV000139927] Chr16:8579327..9143148 [GRCh38]
Chr16:8629329..9237005 [GRCh37]
Chr16:8569330..9144506 [NCBI36]
Chr16:16p13.2
uncertain significance
GRCh38/hg38 16p13.2(chr16:8767999-8939742)x3 copy number gain See cases [RCV000140292] Chr16:8767999..8939742 [GRCh38]
Chr16:8861856..9033599 [GRCh37]
Chr16:8769357..8941100 [NCBI36]
Chr16:16p13.2
likely benign
GRCh38/hg38 16p13.2(chr16:8708620-9180671)x1 copy number loss See cases [RCV000139648] Chr16:8708620..9180671 [GRCh38]
Chr16:8802477..9274528 [GRCh37]
Chr16:8709978..9182029 [NCBI36]
Chr16:16p13.2
uncertain significance
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11
pathogenic
NM_020686.6(ABAT):c.631C>T (p.Leu211Phe) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000149898] Chr16:8768220 [GRCh38]
Chr16:8862077 [GRCh37]
Chr16:16p13.2
pathogenic
NM_020686.6(ABAT):c.1433T>C (p.Leu478Pro) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000149899] Chr16:8781360 [GRCh38]
Chr16:8875217 [GRCh37]
Chr16:16p13.2
pathogenic
NM_020686.6(ABAT):c.275G>A (p.Arg92Gln) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000149900] Chr16:8750498 [GRCh38]
Chr16:8844355 [GRCh37]
Chr16:16p13.2
pathogenic
NM_020686.6(ABAT):c.587C>T (p.Thr196Met) single nucleotide variant not provided [RCV000180673] Chr16:8766254 [GRCh38]
Chr16:8860111 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.641T>C (p.Met214Thr) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000378959]|not provided [RCV000859652]|not specified [RCV000263068] Chr16:8768230 [GRCh38]
Chr16:8862087 [GRCh37]
Chr16:16p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020686.6(ABAT):c.30G>A (p.Leu10=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000373048]|not specified [RCV000301375] Chr16:8735769 [GRCh38]
Chr16:8829626 [GRCh37]
Chr16:16p13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
NM_020686.6(ABAT):c.1363T>G (p.Leu455Val) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000524879] Chr16:8779572 [GRCh38]
Chr16:8873429 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Ductal breast carcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2
uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Ductal breast carcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3
uncertain significance
NM_020686.6(ABAT):c.55C>T (p.Arg19Cys) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001081605]|not provided [RCV000224364] Chr16:8735794 [GRCh38]
Chr16:8829651 [GRCh37]
Chr16:16p13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_020686.6(ABAT):c.603+3G>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000324489]|not provided [RCV000224546] Chr16:8766273 [GRCh38]
Chr16:8860130 [GRCh37]
Chr16:16p13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p13.2(chr16:8875248-9211047)x3 copy number gain See cases [RCV000240045] Chr16:8875248..9211047 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.-52G>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000281701] Chr16:8674701 [GRCh38]
Chr16:8768558 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*242G>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000264800] Chr16:8781672 [GRCh38]
Chr16:8875529 [GRCh37]
Chr16:16p13.2
benign
NM_020686.6(ABAT):c.*1593T>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000301413] Chr16:8783023 [GRCh38]
Chr16:8876880 [GRCh37]
Chr16:16p13.2
benign
NM_020686.6(ABAT):c.645C>A (p.Gly215=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000284582] Chr16:8768234 [GRCh38]
Chr16:8862091 [GRCh37]
Chr16:16p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020686.6(ABAT):c.169-5T>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000284451]|not provided [RCV000676428] Chr16:8748103 [GRCh38]
Chr16:8841960 [GRCh37]
Chr16:16p13.2
benign
NM_020686.6(ABAT):c.*2276G>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000284851] Chr16:8783706 [GRCh38]
Chr16:8877563 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*990G>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000302021] Chr16:8782420 [GRCh38]
Chr16:8876277 [GRCh37]
Chr16:16p13.2
benign
NM_020686.6(ABAT):c.1452C>T (p.His484=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000267672]|not provided [RCV000710367] Chr16:8781379 [GRCh38]
Chr16:8875236 [GRCh37]
Chr16:16p13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_020686.6(ABAT):c.129G>A (p.Gly43=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000285418]|not provided [RCV000676426] Chr16:8746059 [GRCh38]
Chr16:8839916 [GRCh37]
Chr16:16p13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_020686.6(ABAT):c.*574A>G single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000305624] Chr16:8782004 [GRCh38]
Chr16:8875861 [GRCh37]
Chr16:16p13.2
benign
NM_020686.6(ABAT):c.561G>C (p.Arg187Ser) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000288121] Chr16:8766228 [GRCh38]
Chr16:8860085 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*1933T>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000271048] Chr16:8783363 [GRCh38]
Chr16:8877220 [GRCh37]
Chr16:16p13.2
benign
NM_020686.6(ABAT):c.1270-4A>G single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000271121]|not provided [RCV000676435] Chr16:8779475 [GRCh38]
Chr16:8873332 [GRCh37]
Chr16:16p13.2
benign|likely benign
NM_020686.6(ABAT):c.*1483G>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000289334] Chr16:8782913 [GRCh38]
Chr16:8876770 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*1333A>G single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000292439] Chr16:8782763 [GRCh38]
Chr16:8876620 [GRCh37]
Chr16:16p13.2
benign|likely benign
NM_020686.6(ABAT):c.*1202G>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000277027] Chr16:8782632 [GRCh38]
Chr16:8876489 [GRCh37]
Chr16:16p13.2
likely benign|uncertain significance
NM_020686.6(ABAT):c.*1131G>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000261569] Chr16:8782561 [GRCh38]
Chr16:8876418 [GRCh37]
Chr16:16p13.2
benign
NM_020686.6(ABAT):c.*1814T>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000297743] Chr16:8783244 [GRCh38]
Chr16:8877101 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.317-5C>G single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000298206] Chr16:8757752 [GRCh38]
Chr16:8851609 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.864C>T (p.Ala288=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000281494] Chr16:8772827 [GRCh38]
Chr16:8866684 [GRCh37]
Chr16:16p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020686.6(ABAT):c.*244C>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000319883] Chr16:8781674 [GRCh38]
Chr16:8875531 [GRCh37]
Chr16:16p13.2
benign|likely benign
NM_020686.6(ABAT):c.167A>G (p.Gln56Arg) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000342704]|not provided [RCV000676427] Chr16:8746097 [GRCh38]
Chr16:8839954 [GRCh37]
Chr16:16p13.2
benign
NM_020686.6(ABAT):c.1269+4A>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000365701]|not provided [RCV000676434] Chr16:8776494 [GRCh38]
Chr16:8870351 [GRCh37]
Chr16:16p13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020686.6(ABAT):c.1147C>T (p.Leu383=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000391177]|not provided [RCV000676433] Chr16:8776368 [GRCh38]
Chr16:8870225 [GRCh37]
Chr16:16p13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_020686.6(ABAT):c.*1501A>G single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000344359] Chr16:8782931 [GRCh38]
Chr16:8876788 [GRCh37]
Chr16:16p13.2
benign|likely benign
NM_020686.6(ABAT):c.*2749T>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000367348] Chr16:8784179 [GRCh38]
Chr16:8878036 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.540+14CA[12] microsatellite Gamma-aminobutyric acid transaminase deficiency [RCV000367638] Chr16:8764843..8764844 [GRCh38]
Chr16:8858700..8858701 [GRCh37]
Chr16:16p13.2
benign
NM_020686.6(ABAT):c.168+12A>G single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000392110] Chr16:8746110 [GRCh38]
Chr16:8839967 [GRCh37]
Chr16:16p13.2
benign|likely benign
NM_020686.6(ABAT):c.*571A>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000392956] Chr16:8782001 [GRCh38]
Chr16:8875858 [GRCh37]
Chr16:16p13.2
benign
NM_020686.6(ABAT):c.540+14CA[13] microsatellite Gamma-aminobutyric acid transaminase deficiency [RCV000272982] Chr16:8764843..8764844 [GRCh38]
Chr16:8858700..8858701 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.484G>A (p.Ala162Thr) single nucleotide variant not provided [RCV000375231] Chr16:8764774 [GRCh38]
Chr16:8858631 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.933G>C (p.Lys311Asn) single nucleotide variant not provided [RCV000375541] Chr16:8772896 [GRCh38]
Chr16:8866753 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*2074A>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000322741] Chr16:8783504 [GRCh38]
Chr16:8877361 [GRCh37]
Chr16:16p13.2
likely benign|uncertain significance
NM_020686.6(ABAT):c.*99G>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000322793] Chr16:8781529 [GRCh38]
Chr16:8875386 [GRCh37]
Chr16:16p13.2
benign|likely benign
NM_020686.6(ABAT):c.*512G>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000345259] Chr16:8781942 [GRCh38]
Chr16:8875799 [GRCh37]
Chr16:16p13.2
benign
NM_020686.6(ABAT):c.*1922G>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000367807] Chr16:8783352 [GRCh38]
Chr16:8877209 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.267C>T (p.Asp89=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000346345]|not specified [RCV000732641] Chr16:8750490 [GRCh38]
Chr16:8844347 [GRCh37]
Chr16:16p13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020686.6(ABAT):c.*2986T>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000366042] Chr16:8784416 [GRCh38]
Chr16:8878273 [GRCh37]
Chr16:16p13.2
benign|uncertain significance
NM_020686.6(ABAT):c.*1965C>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000326069] Chr16:8783395 [GRCh38]
Chr16:8877252 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*3039del deletion Gamma-aminobutyric acid transaminase deficiency [RCV000326391] Chr16:8784460 [GRCh38]
Chr16:8878317 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.*1142G>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000371486] Chr16:8782572 [GRCh38]
Chr16:8876429 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*1819G>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000371391] Chr16:8783249 [GRCh38]
Chr16:8877106 [GRCh37]
Chr16:16p13.2
benign|likely benign
NM_020686.6(ABAT):c.*476T>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000350077] Chr16:8781906 [GRCh38]
Chr16:8875763 [GRCh37]
Chr16:16p13.2
benign
NM_020686.6(ABAT):c.-107G>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000373857] Chr16:8674646 [GRCh38]
Chr16:8768503 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.984C>A (p.Val328=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000398799]|not provided [RCV000676432] Chr16:8774919 [GRCh38]
Chr16:8868776 [GRCh37]
Chr16:16p13.2
benign
NM_020686.6(ABAT):c.*2567C>G single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000398947] Chr16:8783997 [GRCh38]
Chr16:8877854 [GRCh37]
Chr16:16p13.2
benign
NM_020686.6(ABAT):c.1123-15C>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000351624] Chr16:8776329 [GRCh38]
Chr16:8870186 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*258G>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000374511] Chr16:8781688 [GRCh38]
Chr16:8875545 [GRCh37]
Chr16:16p13.2
benign
NM_020686.6(ABAT):c.540+14CA[14] microsatellite Gamma-aminobutyric acid transaminase deficiency [RCV000328041] Chr16:8764843..8764844 [GRCh38]
Chr16:8858700..8858701 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*493C>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000309041] Chr16:8781923 [GRCh38]
Chr16:8875780 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*1405C>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000329279] Chr16:8782835 [GRCh38]
Chr16:8876692 [GRCh37]
Chr16:16p13.2
benign
NM_020686.6(ABAT):c.366+11G>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000353049] Chr16:8757817 [GRCh38]
Chr16:8851674 [GRCh37]
Chr16:16p13.2
benign|uncertain significance
NM_020686.6(ABAT):c.*1575A>G single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000401084] Chr16:8783005 [GRCh38]
Chr16:8876862 [GRCh37]
Chr16:16p13.2
benign|likely benign
NM_020686.6(ABAT):c.708C>T (p.Ile236=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000402097] Chr16:8768865 [GRCh38]
Chr16:8862722 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*2884T>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000309271] Chr16:8784314 [GRCh38]
Chr16:8878171 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*1210T>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000332123] Chr16:8782640 [GRCh38]
Chr16:8876497 [GRCh37]
Chr16:16p13.2
benign|likely benign
NM_020686.6(ABAT):c.*2114G>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000377409] Chr16:8783544 [GRCh38]
Chr16:8877401 [GRCh37]
Chr16:16p13.2
benign
NM_020686.6(ABAT):c.*165A>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000377456] Chr16:8781595 [GRCh38]
Chr16:8875452 [GRCh37]
Chr16:16p13.2
benign|likely benign
NM_020686.6(ABAT):c.1158G>A (p.Pro386=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000310986] Chr16:8776379 [GRCh38]
Chr16:8870236 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.448-15T>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000332178] Chr16:8764723 [GRCh38]
Chr16:8858580 [GRCh37]
Chr16:16p13.2
benign
NM_020686.6(ABAT):c.309C>T (p.Val103=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000404270]|not provided [RCV000676429] Chr16:8750532 [GRCh38]
Chr16:8844389 [GRCh37]
Chr16:16p13.2
benign|likely benign
NM_020686.6(ABAT):c.*942C>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000265597] Chr16:8782372 [GRCh38]
Chr16:8876229 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.26G>A (p.Arg9His) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000334719] Chr16:8735765 [GRCh38]
Chr16:8829622 [GRCh37]
Chr16:16p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020686.6(ABAT):c.*298C>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000334962] Chr16:8781728 [GRCh38]
Chr16:8875585 [GRCh37]
Chr16:16p13.2
benign|likely benign
NM_020686.6(ABAT):c.*1704G>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000356238] Chr16:8783134 [GRCh38]
Chr16:8876991 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.555G>A (p.Gly185=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000382601] Chr16:8766222 [GRCh38]
Chr16:8860079 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*1826C>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000276816] Chr16:8783256 [GRCh38]
Chr16:8877113 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.419T>C (p.Val140Ala) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000277115] Chr16:8764121 [GRCh38]
Chr16:8857978 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*1416T>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000383807] Chr16:8782846 [GRCh38]
Chr16:8876703 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.446C>T (p.Ser149Leu) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000553138]|not provided [RCV000291785] Chr16:8764148 [GRCh38]
Chr16:8858005 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*2642T>G single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000315045] Chr16:8784072 [GRCh38]
Chr16:8877929 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*2545C>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000336177] Chr16:8783975 [GRCh38]
Chr16:8877832 [GRCh37]
Chr16:16p13.2
benign|likely benign
NM_020686.6(ABAT):c.1054G>A (p.Val352Met) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000315521] Chr16:8774989 [GRCh38]
Chr16:8868846 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*915C>G single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000360321] Chr16:8782345 [GRCh38]
Chr16:8876202 [GRCh37]
Chr16:16p13.2
benign
NM_020686.6(ABAT):c.*1319C>G single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000386673] Chr16:8782749 [GRCh38]
Chr16:8876606 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*2352G>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000278885] Chr16:8783782 [GRCh38]
Chr16:8877639 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*1133G>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000316898] Chr16:8782563 [GRCh38]
Chr16:8876420 [GRCh37]
Chr16:16p13.2
benign|uncertain significance
NM_020686.6(ABAT):c.1381+9T>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000362298]|not provided [RCV000676437] Chr16:8779599 [GRCh38]
Chr16:8873456 [GRCh37]
Chr16:16p13.2
benign
NM_020686.6(ABAT):c.*3110_*3113del deletion Gamma-aminobutyric acid transaminase deficiency [RCV000268018] Chr16:8784537..8784540 [GRCh38]
Chr16:8878394..8878397 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.*259G>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000280009] Chr16:8781689 [GRCh38]
Chr16:8875546 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*1558G>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000340779] Chr16:8782988 [GRCh38]
Chr16:8876845 [GRCh37]
Chr16:16p13.2
benign|likely benign
NM_020686.6(ABAT):c.*318T>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000389485] Chr16:8781748 [GRCh38]
Chr16:8875605 [GRCh37]
Chr16:16p13.2
benign|likely benign
NM_020686.6(ABAT):c.*2304T>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000390017] Chr16:8783734 [GRCh38]
Chr16:8877591 [GRCh37]
Chr16:16p13.2
benign|likely benign
NM_020686.6(ABAT):c.678G>C (p.Ala226=) single nucleotide variant not provided [RCV000333998] Chr16:8768835 [GRCh38]
Chr16:8862692 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*3020A>G single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000269023] Chr16:8784450 [GRCh38]
Chr16:8878307 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*1976C>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000380814] Chr16:8783406 [GRCh38]
Chr16:8877263 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*1515_*1516dup duplication Gamma-aminobutyric acid transaminase deficiency [RCV000400249] Chr16:8782935..8782936 [GRCh38]
Chr16:8876792..8876793 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.5(ABAT):c.-150C>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000330747] Chr16:8674603 [GRCh38]
Chr16:8768460 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*1907A>G single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000331791] Chr16:8783337 [GRCh38]
Chr16:8877194 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*479C>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000400927] Chr16:8781909 [GRCh38]
Chr16:8875766 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.749G>A (p.Arg250Gln) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000528450] Chr16:8768906 [GRCh38]
Chr16:8862763 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*430C>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000295216] Chr16:8781860 [GRCh38]
Chr16:8875717 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.1270G>A (p.Ala424Thr) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000307486] Chr16:8779479 [GRCh38]
Chr16:8873336 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.957T>G (p.His319Gln) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000336586] Chr16:8774892 [GRCh38]
Chr16:8868749 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*1516del deletion Gamma-aminobutyric acid transaminase deficiency [RCV000285707] Chr16:8782936 [GRCh38]
Chr16:8876793 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*2300G>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000337503] Chr16:8783730 [GRCh38]
Chr16:8877587 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.999C>T (p.Gly333=) single nucleotide variant not specified [RCV000518273] Chr16:8774934 [GRCh38]
Chr16:8868791 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*1988C>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000286390] Chr16:8783418 [GRCh38]
Chr16:8877275 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*2794C>G single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000391051] Chr16:8784224 [GRCh38]
Chr16:8878081 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*1765_*1768TTCA[2] microsatellite Gamma-aminobutyric acid transaminase deficiency [RCV000391822] Chr16:8783192..8783195 [GRCh38]
Chr16:8877049..8877052 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.667+7_667+8dup duplication Gamma-aminobutyric acid transaminase deficiency [RCV000340002] Chr16:8768261..8768262 [GRCh38]
Chr16:8862118..8862119 [GRCh37]
Chr16:16p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020686.6(ABAT):c.*1110A>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000356444] Chr16:8782540 [GRCh38]
Chr16:8876397 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*3059C>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000360091] Chr16:8784489 [GRCh38]
Chr16:8878346 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.110T>G (p.Val37Gly) single nucleotide variant not provided [RCV000591812] Chr16:8746040 [GRCh38]
Chr16:8839897 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.109G>A (p.Val37Ile) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000805256]|not provided [RCV000591998] Chr16:8746039 [GRCh38]
Chr16:8839896 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.592A>G (p.Met198Val) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001120464] Chr16:8766259 [GRCh38]
Chr16:8860116 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.45G>C (p.Gln15His) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001308466]|not provided [RCV000592784] Chr16:8735784 [GRCh38]
Chr16:8829641 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.486C>T (p.Ala162=) single nucleotide variant not provided [RCV000593060] Chr16:8764776 [GRCh38]
Chr16:8858633 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.25C>T (p.Arg9Cys) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000532780] Chr16:8735764 [GRCh38]
Chr16:8829621 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*32G>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001120261] Chr16:8781462 [GRCh38]
Chr16:8875319 [GRCh37]
Chr16:16p13.2
benign
NM_020686.6(ABAT):c.1139A>G (p.Asn380Ser) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000541313] Chr16:8776360 [GRCh38]
Chr16:8870217 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.748C>T (p.Arg250Trp) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000534276] Chr16:8768905 [GRCh38]
Chr16:8862762 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.1501_*2del (p.Ter501LysextTer?) deletion Gamma-aminobutyric acid transaminase deficiency [RCV001035540]|not provided [RCV000729364] Chr16:8781425..8781429 [GRCh38]
Chr16:8875282..8875286 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.169-6C>T single nucleotide variant not provided [RCV000728147] Chr16:8748102 [GRCh38]
Chr16:8841959 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.2(chr16:8862211-9287762)x3 copy number gain See cases [RCV000449293] Chr16:8862211..9287762 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2
pathogenic
NM_020686.6(ABAT):c.158C>T (p.Pro53Leu) single nucleotide variant not provided [RCV000443452] Chr16:8746088 [GRCh38]
Chr16:8839945 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.1129C>T (p.Arg377Trp) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000505292] Chr16:8776350 [GRCh38]
Chr16:8870207 [GRCh37]
Chr16:16p13.2
pathogenic|uncertain significance
NM_020686.6(ABAT):c.817-2A>G single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000505301] Chr16:8772778 [GRCh38]
Chr16:8866635 [GRCh37]
Chr16:16p13.2
pathogenic
NM_020686.6(ABAT):c.1460T>C (p.Leu487Pro) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000505328] Chr16:8781387 [GRCh38]
Chr16:8875244 [GRCh37]
Chr16:16p13.2
pathogenic
NM_020686.6(ABAT):c.1394G>A (p.Gly465Asp) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000786417]|not provided [RCV000437522] Chr16:8781321 [GRCh38]
Chr16:8875178 [GRCh37]
Chr16:16p13.2
pathogenic|uncertain significance
GRCh37/hg19 16p13.2(chr16:8796001-9015505)x3 copy number gain See cases [RCV000447952] Chr16:8796001..9015505 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.2(chr16:8861856-8891690)x3 copy number gain See cases [RCV000448659] Chr16:8861856..8891690 [GRCh37]
Chr16:16p13.2
likely benign
GRCh37/hg19 16p13.2(chr16:8850768-9216009)x3 copy number gain See cases [RCV000447730] Chr16:8850768..9216009 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.991G>A (p.Gly331Arg) single nucleotide variant not specified [RCV000486379] Chr16:8774926 [GRCh38]
Chr16:8868783 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.249T>C (p.Asn83=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000554327] Chr16:8750472 [GRCh38]
Chr16:8844329 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.448-1G>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000509501] Chr16:8764737 [GRCh38]
Chr16:8858594 [GRCh37]
Chr16:16p13.2
not provided
NM_000663.3(ABAT):c.199-?_316+?del deletion Gamma-aminobutyric acid transaminase deficiency [RCV000505361] Chr16:16p13.2 pathogenic
GRCh37/hg19 16p13.2(chr16:8836233-9454914)x3 copy number gain See cases [RCV000511251] Chr16:8836233..9454914 [GRCh37]
Chr16:16p13.2
uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
NM_020686.6(ABAT):c.70+10G>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000560614] Chr16:8735819 [GRCh38]
Chr16:8829676 [GRCh37]
Chr16:16p13.2
likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_020686.6(ABAT):c.366+10G>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001084171]|not provided [RCV000635275] Chr16:8757816 [GRCh38]
Chr16:8851673 [GRCh37]
Chr16:16p13.2
benign
NM_020686.6(ABAT):c.525C>T (p.Ile175=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000635274] Chr16:8764815 [GRCh38]
Chr16:8858672 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.279G>A (p.Met93Ile) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000635266] Chr16:8750502 [GRCh38]
Chr16:8844359 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.803G>A (p.Arg268His) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000635265] Chr16:8768960 [GRCh38]
Chr16:8862817 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2
pathogenic
NM_020686.6(ABAT):c.978C>T (p.Asp326=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000533939] Chr16:8774913 [GRCh38]
Chr16:8868770 [GRCh37]
Chr16:16p13.2
likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3
pathogenic
NM_020686.6(ABAT):c.618C>G (p.Pro206=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000557269] Chr16:8768207 [GRCh38]
Chr16:8862064 [GRCh37]
Chr16:16p13.2
likely benign
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2
pathogenic
NM_020686.6(ABAT):c.606C>T (p.Ala202=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000635272] Chr16:8768195 [GRCh38]
Chr16:8862052 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.56G>A (p.Arg19His) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000635270] Chr16:8735795 [GRCh38]
Chr16:8829652 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.1349G>A (p.Arg450Gln) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000635269] Chr16:8779558 [GRCh38]
Chr16:8873415 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.1435G>T (p.Val479Phe) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000635268] Chr16:8781362 [GRCh38]
Chr16:8875219 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.1082C>G (p.Thr361Ser) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000635267] Chr16:8775017 [GRCh38]
Chr16:8868874 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.817-6A>G single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001081650]|not provided [RCV000676431] Chr16:8772774 [GRCh38]
Chr16:8866631 [GRCh37]
Chr16:16p13.2
benign|likely benign
NM_020686.6(ABAT):c.858G>A (p.Thr286=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000635277] Chr16:8772821 [GRCh38]
Chr16:8866678 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.70+9C>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000635276] Chr16:8735818 [GRCh38]
Chr16:8829675 [GRCh37]
Chr16:16p13.2
likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_020686.6(ABAT):c.42C>G (p.Phe14Leu) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000699527] Chr16:8735781 [GRCh38]
Chr16:8829638 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.648G>A (p.Ala216=) single nucleotide variant not provided [RCV000676430] Chr16:8768237 [GRCh38]
Chr16:8862094 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.1326C>T (p.Phe442=) single nucleotide variant not provided [RCV000676436] Chr16:8779535 [GRCh38]
Chr16:8873392 [GRCh37]
Chr16:16p13.2
likely benign
GRCh37/hg19 16p13.2(chr16:8797797-9558289)x3 copy number gain not provided [RCV000683757] Chr16:8797797..9558289 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13
pathogenic
NM_020686.6(ABAT):c.964G>A (p.Ala322Thr) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000701642] Chr16:8774899 [GRCh38]
Chr16:8868756 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.1348C>T (p.Arg450Trp) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000701995] Chr16:8779557 [GRCh38]
Chr16:8873414 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.1269+6A>G single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000701440] Chr16:8776496 [GRCh38]
Chr16:8870353 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.1307G>A (p.Arg436Gln) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000706458] Chr16:8779516 [GRCh38]
Chr16:8873373 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.560G>C (p.Arg187Thr) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000706714] Chr16:8766227 [GRCh38]
Chr16:8860084 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.365C>T (p.Ala122Val) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000706999] Chr16:8757805 [GRCh38]
Chr16:8851662 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.1274G>A (p.Arg425Gln) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000694538] Chr16:8779483 [GRCh38]
Chr16:8873340 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.1186A>G (p.Ile396Val) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001081050]|not provided [RCV000710366] Chr16:8776407 [GRCh38]
Chr16:8870264 [GRCh37]
Chr16:16p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.2(chr16:8013796-8913804)x3 copy number gain not provided [RCV000751561] Chr16:8013796..8913804 [GRCh37]
Chr16:16p13.2
benign
GRCh37/hg19 16p13.2(chr16:8722052-8875529)x3 copy number gain not provided [RCV000751567] Chr16:8722052..8875529 [GRCh37]
Chr16:16p13.2
benign
GRCh37/hg19 16p13.2(chr16:8811986-8839954)x1 copy number loss not provided [RCV000751569] Chr16:8811986..8839954 [GRCh37]
Chr16:16p13.2
benign
GRCh37/hg19 16p13.2(chr16:8828410-9028645)x3 copy number gain not provided [RCV000751570] Chr16:8828410..9028645 [GRCh37]
Chr16:16p13.2
benign
NC_000016.10:g.(?_8735720)_(10180431_?)dup duplication Gamma-aminobutyric acid transaminase deficiency [RCV001031940] Chr16:8829577..10274288 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.643G>A (p.Gly215Ser) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001066152] Chr16:8768232 [GRCh38]
Chr16:8862089 [GRCh37]
Chr16:16p13.2
uncertain significance
NC_000016.10:g.(?_8772760)_(8847845_?)dup duplication Congenital disorder of glycosylation, type Ia [RCV001032646] Chr16:8866617..8941702 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.830T>C (p.Ile277Thr) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001115557] Chr16:8772793 [GRCh38]
Chr16:8866650 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.2(chr16:8741774-8798255)x1 copy number loss not provided [RCV001006759] Chr16:8741774..8798255 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*1602G>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001117165] Chr16:8783032 [GRCh38]
Chr16:8876889 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*1771C>G single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001117167] Chr16:8783201 [GRCh38]
Chr16:8877058 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*2744G>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001117257] Chr16:8784174 [GRCh38]
Chr16:8878031 [GRCh37]
Chr16:16p13.2
benign
NM_020686.6(ABAT):c.420G>A (p.Val140=) single nucleotide variant not provided [RCV000950348] Chr16:8764122 [GRCh38]
Chr16:8857979 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.18C>T (p.Leu6=) single nucleotide variant not provided [RCV000973815] Chr16:8735757 [GRCh38]
Chr16:8829614 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.1020C>T (p.Ala340=) single nucleotide variant not provided [RCV000982563] Chr16:8774955 [GRCh38]
Chr16:8868812 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.840T>C (p.Tyr280=) single nucleotide variant not provided [RCV000928940] Chr16:8772803 [GRCh38]
Chr16:8866660 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.408G>A (p.Pro136=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001061486] Chr16:8764110 [GRCh38]
Chr16:8857967 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.58C>G (p.Leu20Val) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001062054] Chr16:8735797 [GRCh38]
Chr16:8829654 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.1058T>G (p.Met353Arg) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001049738] Chr16:8774993 [GRCh38]
Chr16:8868850 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.482T>G (p.Met161Arg) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001070246] Chr16:8764772 [GRCh38]
Chr16:8858629 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.772T>C (p.Phe258Leu) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001051979] Chr16:8768929 [GRCh38]
Chr16:8862786 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.2(chr16:8839796-9728670) copy number loss not provided [RCV000767575] Chr16:8839796..9728670 [GRCh37]
Chr16:16p13.2
pathogenic
NM_020686.6(ABAT):c.955-7C>T single nucleotide variant not provided [RCV000894707] Chr16:8774883 [GRCh38]
Chr16:8868740 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.199-9T>A single nucleotide variant not provided [RCV000960623] Chr16:8750413 [GRCh38]
Chr16:8844270 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.735C>T (p.Ile245=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000964650] Chr16:8768892 [GRCh38]
Chr16:8862749 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.618C>T (p.Pro206=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000884772] Chr16:8768207 [GRCh38]
Chr16:8862064 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.314T>C (p.Ile105Thr) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000801069] Chr16:8750537 [GRCh38]
Chr16:8844394 [GRCh37]
Chr16:16p13.2
uncertain significance
NC_000016.10:g.(?_8779459)_(8847845_?)del deletion Congenital disorder of glycosylation, type Ia [RCV000819231] Chr16:8779459..8847845 [GRCh38]
Chr16:8873316..8941702 [GRCh37]
Chr16:16p13.2
pathogenic
NM_020686.6(ABAT):c.771G>C (p.Glu257Asp) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000823512] Chr16:8768928 [GRCh38]
Chr16:8862785 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.64_66del (p.Val22del) deletion Gamma-aminobutyric acid transaminase deficiency [RCV000819749] Chr16:8735801..8735803 [GRCh38]
Chr16:8829658..8829660 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.583G>C (p.Glu195Gln) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000800025] Chr16:8766250 [GRCh38]
Chr16:8860107 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.538C>T (p.Arg180Trp) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000805733] Chr16:8764828 [GRCh38]
Chr16:8858685 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.236A>T (p.Glu79Val) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000815541] Chr16:8750459 [GRCh38]
Chr16:8844316 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.2(chr16:8837843-9157022)x3 copy number gain not provided [RCV000848748] Chr16:8837843..9157022 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.929G>A (p.Arg310Gln) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000812993] Chr16:8772892 [GRCh38]
Chr16:8866749 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.874G>A (p.Val292Met) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000816550] Chr16:8772837 [GRCh38]
Chr16:8866694 [GRCh37]
Chr16:16p13.2
uncertain significance
NC_000016.9:g.(?_8851594)_(8941702_?)dup duplication Gamma-aminobutyric acid transaminase deficiency [RCV000817955] Chr16:8757737..8847845 [GRCh38]
Chr16:8851594..8941702 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.2(chr16:8621331-8803621)x3 copy number gain not provided [RCV000849699] Chr16:8621331..8803621 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.2(chr16:8800618-9302688)x3 copy number gain not provided [RCV000849972] Chr16:8800618..9302688 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.1393G>C (p.Gly465Arg) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000786415] Chr16:8781320 [GRCh38]
Chr16:8875177 [GRCh37]
Chr16:16p13.2
pathogenic
NM_020686.6(ABAT):c.638T>G (p.Phe213Cys) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000786416] Chr16:8768227 [GRCh38]
Chr16:8862084 [GRCh37]
Chr16:16p13.2
pathogenic
NM_020686.6(ABAT):c.770A>T (p.Glu257Val) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000804966] Chr16:8768927 [GRCh38]
Chr16:8862784 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.2(chr16:8635993-8788833)x1 copy number loss not provided [RCV000848583] Chr16:8635993..8788833 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.677C>T (p.Ala226Val) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000792467] Chr16:8768834 [GRCh38]
Chr16:8862691 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.2(chr16:8797797-8913114)x3 copy number gain not provided [RCV000846391] Chr16:8797797..8913114 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*2629G>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001117254] Chr16:8784059 [GRCh38]
Chr16:8877916 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.*2712T>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001117256] Chr16:8784142 [GRCh38]
Chr16:8877999 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.190A>G (p.Ile64Val) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000795222] Chr16:8748129 [GRCh38]
Chr16:8841986 [GRCh37]
Chr16:16p13.2
uncertain significance
NC_000016.10:g.(?_8750402)_(8801930_?)dup duplication Congenital disorder of glycosylation, type Ia [RCV001032216] Chr16:8844259..8895787 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*1075C>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001118711] Chr16:8782505 [GRCh38]
Chr16:8876362 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.168+1G>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000786413] Chr16:8746099 [GRCh38]
Chr16:8839956 [GRCh37]
Chr16:16p13.2
pathogenic
NM_020686.6(ABAT):c.*1593T>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001117164] Chr16:8783023 [GRCh38]
Chr16:8876880 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.2(chr16:8795855-9015505)x3 copy number gain not provided [RCV001006762] Chr16:8795855..9015505 [GRCh37]
Chr16:16p13.2
uncertain significance
NC_000016.9:g.(?_8829577)_(8875307_?)dup duplication Gamma-aminobutyric acid transaminase deficiency [RCV000798813] Chr16:8735720..8781450 [GRCh38]
Chr16:8829577..8875307 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*989T>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001118709] Chr16:8782419 [GRCh38]
Chr16:8876276 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.1354A>T (p.Lys452Ter) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000824235] Chr16:8779563 [GRCh38]
Chr16:8873420 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.955-4C>G single nucleotide variant not provided [RCV000978519] Chr16:8774886 [GRCh38]
Chr16:8868743 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.1338T>C (p.Asp446=) single nucleotide variant not provided [RCV000919081] Chr16:8779547 [GRCh38]
Chr16:8873404 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.1410_1411delinsGA (p.Ser471Thr) indel Gamma-aminobutyric acid transaminase deficiency [RCV000813499] Chr16:8781337..8781338 [GRCh38]
Chr16:8875194..8875195 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.454C>T (p.Pro152Ser) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000786414] Chr16:8764744 [GRCh38]
Chr16:8858601 [GRCh37]
Chr16:16p13.2
pathogenic
NM_020686.6(ABAT):c.1125C>G (p.Pro375=) single nucleotide variant not provided [RCV000940467] Chr16:8776346 [GRCh38]
Chr16:8870203 [GRCh37]
Chr16:16p13.2
likely benign
GRCh37/hg19 16p13.2(chr16:8763909-9274576)x3 copy number gain not provided [RCV000847142] Chr16:8763909..9274576 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.2(chr16:8821978-8959376)x3 copy number gain not provided [RCV000847559] Chr16:8821978..8959376 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*31C>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001120260] Chr16:8781461 [GRCh38]
Chr16:8875318 [GRCh37]
Chr16:16p13.2
benign
NM_020686.6(ABAT):c.168+13C>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001117163] Chr16:8746111 [GRCh38]
Chr16:8839968 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*1698C>G single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001117166] Chr16:8783128 [GRCh38]
Chr16:8876985 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.2(chr16:8815381-8933009)x3 copy number gain not provided [RCV000845887] Chr16:8815381..8933009 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.603+6T>G single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001120465] Chr16:8766276 [GRCh38]
Chr16:8860133 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*959T>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001118708] Chr16:8782389 [GRCh38]
Chr16:8876246 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*1051C>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001118710] Chr16:8782481 [GRCh38]
Chr16:8876338 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.387C>T (p.Pro129=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001120167] Chr16:8764089 [GRCh38]
Chr16:8857946 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.-127C>G single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001115735] Chr16:8674626 [GRCh38]
Chr16:8768483 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.1431G>A (p.Thr477=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001120259] Chr16:8781358 [GRCh38]
Chr16:8875215 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*2193T>G single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001115817] Chr16:8783623 [GRCh38]
Chr16:8877480 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*1311C>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001120656] Chr16:8782741 [GRCh38]
Chr16:8876598 [GRCh37]
Chr16:16p13.2
likely benign
GRCh37/hg19 16p13.2(chr16:8772316-8836090)x3 copy number gain not provided [RCV000846443] Chr16:8772316..8836090 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.2(chr16:8729039-8819705)x3 copy number gain not provided [RCV000845922] Chr16:8729039..8819705 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.2(chr16:8766187-8822840)x3 copy number gain not provided [RCV000849981] Chr16:8766187..8822840 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.2(chr16:8848302-8891483)x3 copy number gain not provided [RCV000849482] Chr16:8848302..8891483 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.2(chr16:8727589-8874779)x3 copy number gain not provided [RCV000846822] Chr16:8727589..8874779 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.2(chr16:8797797-8907325)x3 copy number gain not provided [RCV000846082] Chr16:8797797..8907325 [GRCh37]
Chr16:16p13.2
uncertain significance
NC_000016.10:g.(?_8768173)_(8832245_?)dup duplication Congenital disorder of glycosylation, type Ia [RCV001032198] Chr16:8862030..8926102 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.2(chr16:8690029-9479483)x4 copy number gain not provided [RCV000847479] Chr16:8690029..9479483 [GRCh37]
Chr16:16p13.2
uncertain significance
NC_000016.10:g.(?_8781289)_(8847845_?)dup duplication Congenital disorder of glycosylation, type Ia [RCV001033675] Chr16:8875146..8941702 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.332C>A (p.Ala111Asp) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001211609] Chr16:8757772 [GRCh38]
Chr16:8851629 [GRCh37]
Chr16:16p13.2
uncertain significance
NC_000016.10:g.(?_8764049)_(8811733_?)dup duplication Gamma-aminobutyric acid transaminase deficiency [RCV001031564] Chr16:8857906..8905590 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.2(chr16:8797797-8992828)x3 copy number gain not provided [RCV000847046] Chr16:8797797..8992828 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.108C>A (p.Asp36Glu) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001224364] Chr16:8746038 [GRCh38]
Chr16:8839895 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.645C>T (p.Gly215=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001247981] Chr16:8768234 [GRCh38]
Chr16:8862091 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.540+5G>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001219348] Chr16:8764835 [GRCh38]
Chr16:8858692 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.168+3G>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001201664] Chr16:8746101 [GRCh38]
Chr16:8839958 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*2284A>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001115818] Chr16:8783714 [GRCh38]
Chr16:8877571 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*2308A>G single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001115819] Chr16:8783738 [GRCh38]
Chr16:8877595 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*1861C>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001118795] Chr16:8783291 [GRCh38]
Chr16:8877148 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.1123-14G>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001116986] Chr16:8776330 [GRCh38]
Chr16:8870187 [GRCh37]
Chr16:16p13.2
uncertain significance
NC_000016.10:g.(?_8764059)_(8781430_?)dup duplication Gamma-aminobutyric acid transaminase deficiency [RCV001032834] Chr16:8857916..8875287 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*2698C>G single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001117255] Chr16:8784128 [GRCh38]
Chr16:8877985 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.891C>T (p.Ser297=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000909985] Chr16:8772854 [GRCh38]
Chr16:8866711 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.231C>T (p.Tyr77=) single nucleotide variant not provided [RCV000907231] Chr16:8750454 [GRCh38]
Chr16:8844311 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.936G>A (p.Leu312=) single nucleotide variant not provided [RCV000977685] Chr16:8772899 [GRCh38]
Chr16:8866756 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.316+9T>C single nucleotide variant not provided [RCV000980409] Chr16:8750548 [GRCh38]
Chr16:8844405 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.1149G>C (p.Leu383=) single nucleotide variant not provided [RCV000910767] Chr16:8776370 [GRCh38]
Chr16:8870227 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.540+8T>C single nucleotide variant not provided [RCV000980565] Chr16:8764838 [GRCh38]
Chr16:8858695 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.330C>T (p.Pro110=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000908294] Chr16:8757770 [GRCh38]
Chr16:8851627 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.841C>T (p.Arg281Trp) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001036331] Chr16:8772804 [GRCh38]
Chr16:8866661 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.19G>A (p.Ala7Thr) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001216565] Chr16:8735758 [GRCh38]
Chr16:8829615 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.531G>C (p.Met177Ile) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001219911] Chr16:8764821 [GRCh38]
Chr16:8858678 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.680C>G (p.Thr227Ser) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001223701] Chr16:8768837 [GRCh38]
Chr16:8862694 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*426C>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001115650] Chr16:8781856 [GRCh38]
Chr16:8875713 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*2089G>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001120757] Chr16:8783519 [GRCh38]
Chr16:8877376 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*539C>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001117074] Chr16:8781969 [GRCh38]
Chr16:8875826 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.1140C>T (p.Asn380=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001116987] Chr16:8776361 [GRCh38]
Chr16:8870218 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.70+7C>T single nucleotide variant not provided [RCV000935741] Chr16:8735816 [GRCh38]
Chr16:8829673 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.1236G>A (p.Gly412=) single nucleotide variant not provided [RCV000890827] Chr16:8776457 [GRCh38]
Chr16:8870314 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.1269+7C>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV000935738] Chr16:8776497 [GRCh38]
Chr16:8870354 [GRCh37]
Chr16:16p13.2
likely benign
NM_020686.6(ABAT):c.317-5C>T single nucleotide variant not provided [RCV000889422] Chr16:8757752 [GRCh38]
Chr16:8851609 [GRCh37]
Chr16:16p13.2
likely benign
GRCh37/hg19 16p13.2(chr16:8776408-8950829)x1 copy number loss not provided [RCV001006761] Chr16:8776408..8950829 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*2783G>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001118890] Chr16:8784213 [GRCh38]
Chr16:8878070 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*283T>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001120559] Chr16:8781713 [GRCh38]
Chr16:8875570 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*1193G>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001120655] Chr16:8782623 [GRCh38]
Chr16:8876480 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*2059C>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001120755] Chr16:8783489 [GRCh38]
Chr16:8877346 [GRCh37]
Chr16:16p13.2
uncertain significance
NC_000016.10:g.(?_8757737)_(8781450_?)dup duplication Gamma-aminobutyric acid transaminase deficiency [RCV001032897] Chr16:8851594..8875307 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*204A>G single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001120245] Chr16:8781634 [GRCh38]
Chr16:8875491 [GRCh37]
Chr16:16p13.2
benign
NM_020686.6(ABAT):c.1389G>A (p.Val463=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001120258] Chr16:8781316 [GRCh38]
Chr16:8875173 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*578G>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001117075] Chr16:8782008 [GRCh38]
Chr16:8875865 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*717G>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001117076] Chr16:8782147 [GRCh38]
Chr16:8876004 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*2070G>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001120756] Chr16:8783500 [GRCh38]
Chr16:8877357 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*1862C>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001118796] Chr16:8783292 [GRCh38]
Chr16:8877149 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.1430C>T (p.Thr477Met) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001233171] Chr16:8781357 [GRCh38]
Chr16:8875214 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.1254A>T (p.Gly418=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001219288] Chr16:8776475 [GRCh38]
Chr16:8870332 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*316A>C single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001115648] Chr16:8781746 [GRCh38]
Chr16:8875603 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*435G>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001115651] Chr16:8781865 [GRCh38]
Chr16:8875722 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.2(chr16:8759826-8992656)x3 copy number gain not provided [RCV001006760] Chr16:8759826..8992656 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.285T>C (p.Asp95=) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001118794] Chr16:8750508 [GRCh38]
Chr16:8844365 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.916G>A (p.Asp306Asn) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001115558] Chr16:8772879 [GRCh38]
Chr16:8866736 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*416C>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001115649] Chr16:8781846 [GRCh38]
Chr16:8875703 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.539G>A (p.Arg180Gln) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001047570] Chr16:8764829 [GRCh38]
Chr16:8858686 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.*1393C>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001115736] Chr16:8782823 [GRCh38]
Chr16:8876680 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.168+6T>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001062659] Chr16:8746104 [GRCh38]
Chr16:8839961 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.1323del (p.Phe442fs) deletion Gamma-aminobutyric acid transaminase deficiency [RCV001038172] Chr16:8779531 [GRCh38]
Chr16:8873388 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.170A>C (p.Glu57Ala) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001063259] Chr16:8748109 [GRCh38]
Chr16:8841966 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.2(chr16:8281005-9010923)x3 copy number gain See cases [RCV001263029] Chr16:8281005..9010923 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.2(chr16:8559721-8832148)x3 copy number gain not provided [RCV001259743] Chr16:8559721..8832148 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.2(chr16:8210270-9471096)x3 copy number gain not provided [RCV001259744] Chr16:8210270..9471096 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.2(chr16:8589179-8837995)x3 copy number gain not provided [RCV001259745] Chr16:8589179..8837995 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.2(chr16:8687669-8797595)x1 copy number loss not provided [RCV001259746] Chr16:8687669..8797595 [GRCh37]
Chr16:16p13.2
uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
NM_020686.6(ABAT):c.68C>A (p.Pro23His) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001308260] Chr16:8735807 [GRCh38]
Chr16:8829664 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.1356G>T (p.Lys452Asn) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001339515] Chr16:8779565 [GRCh38]
Chr16:8873422 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.1381+6G>T single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001305264] Chr16:8779596 [GRCh38]
Chr16:8873453 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.1075A>G (p.Met359Val) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001339263] Chr16:8775010 [GRCh38]
Chr16:8868867 [GRCh37]
Chr16:16p13.2
uncertain significance
NC_000016.9:g.(?_8857906)_(8905590_?)dup duplication Gamma-aminobutyric acid transaminase deficiency [RCV001314894] Chr16:8857906..8905590 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.44A>T (p.Gln15Leu) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001301844] Chr16:8735783 [GRCh38]
Chr16:8829640 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.1A>G (p.Met1Val) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001340228] Chr16:8735740 [GRCh38]
Chr16:8829597 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.431G>A (p.Arg144Gln) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001315448] Chr16:8764133 [GRCh38]
Chr16:8857990 [GRCh37]
Chr16:16p13.2
uncertain significance
NC_000016.9:g.(?_8851594)_(8875307_?)dup duplication Gamma-aminobutyric acid transaminase deficiency [RCV001305478] Chr16:8851594..8875307 [GRCh37]
Chr16:16p13.2
uncertain significance
NC_000016.9:g.(?_8829597)_(8941682_?)dup duplication Gamma-aminobutyric acid transaminase deficiency [RCV001344840] Chr16:8829597..8941682 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.928C>T (p.Arg310Trp) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001316585] Chr16:8772891 [GRCh38]
Chr16:8866748 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.817-5T>A single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001317768] Chr16:8772775 [GRCh38]
Chr16:8866632 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.761C>T (p.Pro254Leu) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001305576] Chr16:8768918 [GRCh38]
Chr16:8862775 [GRCh37]
Chr16:16p13.2
uncertain significance
NC_000016.9:g.(?_8839838)_(8941682_?)dup duplication Congenital disorder of glycosylation, type Ia [RCV001318851] Chr16:8839838..8941682 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.866_874dup (p.Gly289_Ile291dup) duplication Gamma-aminobutyric acid transaminase deficiency [RCV001347018] Chr16:8772826..8772827 [GRCh38]
Chr16:8866683..8866684 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.604G>T (p.Ala202Ser) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001305975] Chr16:8768193 [GRCh38]
Chr16:8862050 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.740C>T (p.Pro247Leu) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001352533] Chr16:8768897 [GRCh38]
Chr16:8862754 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.619G>A (p.Asp207Asn) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001343009] Chr16:8768208 [GRCh38]
Chr16:8862065 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.331G>A (p.Ala111Thr) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001305521] Chr16:8757771 [GRCh38]
Chr16:8851628 [GRCh37]
Chr16:16p13.2
uncertain significance
NC_000016.9:g.(?_8829577)_(10274288_?)dup duplication Epilepsy, focal, with speech disorder and with or without mental retardation [RCV001299712] Chr16:8829577..10274288 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.1208A>G (p.Asp403Gly) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001309291] Chr16:8776429 [GRCh38]
Chr16:8870286 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.1387G>A (p.Val463Met) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001315302] Chr16:8781314 [GRCh38]
Chr16:8875171 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.857C>T (p.Thr286Met) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001326650] Chr16:8772820 [GRCh38]
Chr16:8866677 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.1274G>T (p.Arg425Leu) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001297733] Chr16:8779483 [GRCh38]
Chr16:8873340 [GRCh37]
Chr16:16p13.2
uncertain significance
NM_020686.6(ABAT):c.625A>G (p.Ser209Gly) single nucleotide variant Gamma-aminobutyric acid transaminase deficiency [RCV001317720] Chr16:8768214 [GRCh38]
Chr16:8862071 [GRCh37]
Chr16:16p13.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23 AgrOrtholog
COSMIC ABAT COSMIC
Ensembl Genes ENSG00000183044 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000268251 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000379845 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000411916 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000454415 UniProtKB/TrEMBL
  ENSP00000454963 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000455184 UniProtKB/TrEMBL
  ENSP00000455198 UniProtKB/TrEMBL
  ENSP00000455502 UniProtKB/TrEMBL
  ENSP00000456267 UniProtKB/TrEMBL
  ENSP00000456330 UniProtKB/TrEMBL
  ENSP00000456392 UniProtKB/TrEMBL
Ensembl Transcript ENST00000268251 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000396600 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000425191 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000561870 UniProtKB/TrEMBL
  ENST00000562115 UniProtKB/TrEMBL
  ENST00000564714 UniProtKB/TrEMBL
  ENST00000565016 UniProtKB/TrEMBL
  ENST00000566590 UniProtKB/TrEMBL
  ENST00000567812 UniProtKB/TrEMBL
  ENST00000568847 UniProtKB/TrEMBL
  ENST00000569156 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 3.40.640.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.1150.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000183044 GTEx
HGNC ID HGNC:23 ENTREZGENE
Human Proteome Map ABAT Human Proteome Map
InterPro 4NH2But_aminotransferase_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aminotrans_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_dom1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PyrdxlP-dep_Trfase_major UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:18 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 18 ENTREZGENE
OMIM 137150 OMIM
  613163 OMIM
Pfam Aminotran_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ABAT RGD, PharmGKB
PIRSF Transaminase_4ab_Lys_Orn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE AA_TRANSFER_CLASS_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53383 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs GABAtrns_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt GABT_HUMAN UniProtKB/Swiss-Prot
  H3BMJ9_HUMAN UniProtKB/TrEMBL
  H3BNQ7_HUMAN UniProtKB/TrEMBL
  H3BP74_HUMAN UniProtKB/TrEMBL
  H3BP84_HUMAN UniProtKB/TrEMBL
  H3BPW8_HUMAN UniProtKB/TrEMBL
  H3BRJ1_HUMAN UniProtKB/TrEMBL
  H3BRN4_HUMAN UniProtKB/TrEMBL
  H3BRT1_HUMAN UniProtKB/TrEMBL
  P80404 ENTREZGENE
  X5D2Y3_HUMAN UniProtKB/TrEMBL
  X5D8S1 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8K386 UniProtKB/Swiss-Prot
  Q16260 UniProtKB/Swiss-Prot
  Q8N5W2 UniProtKB/Swiss-Prot
  Q96BG2 UniProtKB/Swiss-Prot
  Q99800 UniProtKB/Swiss-Prot