GABRB1 (gamma-aminobutyric acid type A receptor subunit beta1) - Rat Genome Database

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Gene: GABRB1 (gamma-aminobutyric acid type A receptor subunit beta1) Homo sapiens
Analyze
Symbol: GABRB1
Name: gamma-aminobutyric acid type A receptor subunit beta1
RGD ID: 731063
HGNC Page HGNC:4081
Description: Enables GABA-A receptor activity; GABA-gated chloride ion channel activity; and ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential. Involved in chloride transmembrane transport and gamma-aminobutyric acid signaling pathway. Located in plasma membrane. Part of GABA-A receptor complex. Implicated in autistic disorder and developmental and epileptic encephalopathy 45. Biomarker of autistic disorder.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DEE45; EIEE45; GABA(A) receptor subunit beta-1; GABA(A) receptor, beta 1; GABAAR subunit beta-1; gamma-aminobutyric acid (GABA) A receptor, beta 1; gamma-aminobutyric acid A receptor beta 1; gamma-aminobutyric acid receptor subunit beta-1; gamma-aminobutyric acid type A receptor beta1 subunit
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38446,993,647 - 47,426,447 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl446,993,723 - 47,426,447 (+)EnsemblGRCh38hg38GRCh38
GRCh37447,033,584 - 47,428,464 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36446,728,336 - 47,123,202 (+)NCBINCBI36Build 36hg18NCBI36
Build 34446,874,506 - 47,269,373NCBI
Celera447,482,542 - 47,877,035 (+)NCBICelera
Cytogenetic Map4p12NCBI
HuRef446,352,751 - 46,747,922 (+)NCBIHuRef
CHM1_1447,032,490 - 47,427,496 (+)NCBICHM1_1
T2T-CHM13v2.0446,998,964 - 47,393,806 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1,1-trichloroethane  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2,2-trifluoroethanol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3alpha-hydroxy-5beta-pregnan-20-one  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-azacytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
androgen antagonist  (ISO)
aripiprazole  (ISO)
atrazine  (ISO)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bicuculline  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
Butylparaben  (ISO)
chloral hydrate  (EXP)
Chloralose  (EXP)
chlorobutanol  (EXP)
cocaine  (ISO)
DDE  (ISO)
delta-hexachlorocyclohexane  (EXP)
dexamethasone  (ISO)
diazepam  (EXP,ISO)
dibutyl phthalate  (ISO)
dorsomorphin  (EXP)
endosulfan  (EXP)
enflurane  (EXP)
entinostat  (EXP)
enzacamene  (ISO)
epoxiconazole  (ISO)
ethanol  (EXP,ISO)
ether  (EXP)
etomidate  (EXP)
felbamate  (EXP)
fipronil  (EXP)
flumazenil  (ISO)
flurotyl  (ISO)
folic acid  (EXP,ISO)
gamma-aminobutyric acid  (EXP,ISO)
gamma-hexachlorocyclohexane  (EXP)
genistein  (ISO)
glycidol  (ISO)
glyphosate  (ISO)
haloperidol  (ISO)
isoflurane  (EXP)
kainic acid  (ISO)
lead(0)  (EXP)
linuron  (ISO)
methimazole  (ISO)
methoxyflurane  (EXP)
muscimol  (ISO)
N,N-diethyl-m-toluamide  (ISO)
niclosamide  (EXP)
ozone  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
pentobarbital  (EXP,ISO)
permethrin  (ISO)
picrotoxin  (EXP)
picrotoxinin  (EXP)
prochloraz  (ISO)
procymidone  (ISO)
progesterone  (ISO)
propofol  (EXP)
quercetin  (ISO)
SB 431542  (EXP)
sevoflurane  (EXP)
sodium arsenite  (EXP,ISO)
sulfadimethoxine  (ISO)
tert-butanol  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
toluene  (EXP)
tribromoethanol  (EXP)
trichloroethene  (EXP)
triptonide  (ISO)
valproic acid  (EXP,ISO)
venlafaxine hydrochloride  (ISO)
vinclozolin  (ISO)
zaleplon  (ISO)
zolpidem  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Investigation of autism and GABA receptor subunit genes in multiple ethnic groups. Collins AL, etal., Neurogenetics. 2006 Jul;7(3):167-74. Epub 2006 Jun 13.
2. mRNA and protein levels for GABAAalpha4, alpha5, beta1 and GABABR1 receptors are altered in brains from subjects with autism. Fatemi SH, etal., J Autism Dev Disord. 2010 Jun;40(6):743-50.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Expression of gamma-aminobutyric acid A receptor subunits alpha1, beta1, gamma2 mRNA in rats with hepatic encephalopathy. Li XQ, etal., World J Gastroenterol. 2005 Jun 7;11(21):3319-22.
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1321150   PMID:1323140   PMID:1652891   PMID:1655634   PMID:2160058   PMID:2465923   PMID:2538761   PMID:8125298   PMID:8178835   PMID:9039914   PMID:10023064   PMID:10195104  
PMID:10449790   PMID:10900018   PMID:11085308   PMID:11140838   PMID:11324945   PMID:11350968   PMID:11528422   PMID:11606067   PMID:11891318   PMID:12477932   PMID:12595241   PMID:12601092  
PMID:14702039   PMID:15198677   PMID:15337300   PMID:15489334   PMID:16278087   PMID:16412217   PMID:16800828   PMID:17655760   PMID:18281286   PMID:18650446   PMID:19078961   PMID:19567891  
PMID:19874574   PMID:20379614   PMID:20468064   PMID:20843900   PMID:20848605   PMID:21145461   PMID:21751815   PMID:21873635   PMID:21988832   PMID:22393585   PMID:23251661   PMID:23392927  
PMID:23917429   PMID:24022508   PMID:24722188   PMID:25036637   PMID:25192656   PMID:25241062   PMID:25566775   PMID:25660468   PMID:26950270   PMID:28346242   PMID:28416970   PMID:35416273  
PMID:38136660  


Genomics

Comparative Map Data
GABRB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38446,993,647 - 47,426,447 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl446,993,723 - 47,426,447 (+)EnsemblGRCh38hg38GRCh38
GRCh37447,033,584 - 47,428,464 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36446,728,336 - 47,123,202 (+)NCBINCBI36Build 36hg18NCBI36
Build 34446,874,506 - 47,269,373NCBI
Celera447,482,542 - 47,877,035 (+)NCBICelera
Cytogenetic Map4p12NCBI
HuRef446,352,751 - 46,747,922 (+)NCBIHuRef
CHM1_1447,032,490 - 47,427,496 (+)NCBICHM1_1
T2T-CHM13v2.0446,998,964 - 47,393,806 (+)NCBIT2T-CHM13v2.0
Gabrb1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39571,815,264 - 72,306,915 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl571,815,456 - 72,306,380 (+)EnsemblGRCm39 Ensembl
GRCm38571,657,921 - 72,149,572 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl571,658,113 - 72,149,037 (+)EnsemblGRCm38mm10GRCm38
MGSCv37572,091,255 - 72,528,483 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36571,979,151 - 72,416,379 (+)NCBIMGSCv36mm8
Celera568,964,933 - 69,390,319 (+)NCBICelera
Cytogenetic Map5C3.2NCBI
cM Map538.18NCBI
Gabrb1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81436,434,339 - 36,917,920 (-)NCBIGRCr8
mRatBN7.21436,068,725 - 36,548,946 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1436,080,393 - 36,548,948 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1436,416,572 - 36,894,556 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01437,721,331 - 38,199,312 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01436,209,655 - 36,687,660 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01438,631,192 - 39,112,598 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1438,643,385 - 39,112,600 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01438,453,142 - 38,924,073 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41438,530,259 - 39,005,615 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11438,532,649 - 39,008,000 (-)NCBI
Celera1435,310,585 - 35,771,142 (-)NCBICelera
Cytogenetic Map14p11NCBI
Gabrb1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554431,132,860 - 1,514,376 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554431,126,223 - 1,514,291 (-)NCBIChiLan1.0ChiLan1.0
GABRB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2380,428,758 - 80,876,408 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1480,688,929 - 81,138,103 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0474,727,321 - 75,164,407 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1485,458,810 - 85,894,427 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl485,459,225 - 85,857,321 (-)Ensemblpanpan1.1panPan2
GABRB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11343,011,491 - 43,349,876 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1342,992,569 - 43,349,923 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1342,942,633 - 43,300,315 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01343,598,384 - 43,955,432 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1343,598,012 - 43,955,599 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11343,276,378 - 43,634,632 (+)NCBIUMICH_Zoey_3.1
UU_Cfam_GSD_1.01343,691,479 - 44,049,754 (+)NCBIUU_Cfam_GSD_1.0
Gabrb1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528532,699,565 - 33,078,224 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648213,220,236 - 13,586,209 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648213,219,962 - 13,593,868 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GABRB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl836,978,547 - 37,355,008 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1836,978,014 - 37,354,950 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2839,176,670 - 39,275,449 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GABRB1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1272,829,385 - 3,254,292 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl272,832,450 - 3,217,326 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604748,873,122 - 49,316,579 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gabrb1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476119,600,946 - 20,017,278 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476119,595,802 - 20,019,368 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GABRB1
348 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3 copy number gain See cases [RCV000050683] Chr4:44356201..62245882 [GRCh38]
Chr4:44358218..63111600 [GRCh37]
Chr4:44052975..62794195 [NCBI36]
Chr4:4p13-q13.1
pathogenic
GRCh38/hg38 4p13-11(chr4:44577678-49081273)x3 copy number gain See cases [RCV000051770] Chr4:44577678..49081273 [GRCh38]
Chr4:44579695..49083290 [GRCh37]
Chr4:44274452..48778047 [NCBI36]
Chr4:4p13-11
pathogenic
NM_000812.3(GABRB1):c.798G>A (p.Trp266Ter) single nucleotide variant Malignant melanoma [RCV000066437] Chr4:47403674 [GRCh38]
Chr4:47405691 [GRCh37]
Chr4:47100448 [NCBI36]
Chr4:4p12
not provided
NM_000812.3(GABRB1):c.241-20209A>C single nucleotide variant Lung cancer [RCV000094852] Chr4:47141040 [GRCh38]
Chr4:47143057 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.3(GABRB1):c.462-50538G>C single nucleotide variant Lung cancer [RCV000094853] Chr4:47269589 [GRCh38]
Chr4:47271606 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.3(GABRB1):c.545-11480T>C single nucleotide variant Lung cancer [RCV000094854] Chr4:47391838 [GRCh38]
Chr4:47393855 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.737T>C (p.Phe246Ser) single nucleotide variant Developmental and epileptic encephalopathy, 45 [RCV000256298] Chr4:47403613 [GRCh38]
Chr4:47405630 [GRCh37]
Chr4:4p12
pathogenic
NM_000812.4(GABRB1):c.860C>T (p.Thr287Ile) single nucleotide variant Developmental and epileptic encephalopathy, 45 [RCV000256350] Chr4:47406706 [GRCh38]
Chr4:47408723 [GRCh37]
Chr4:4p12
pathogenic|likely pathogenic
GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3 copy number gain See cases [RCV000134946] Chr4:40496476..49579850 [GRCh38]
Chr4:40498493..49581867 [GRCh37]
Chr4:40193250..49276624 [NCBI36]
Chr4:4p14-11
pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12
pathogenic
GRCh38/hg38 4p12-11(chr4:47383124-48851860)x3 copy number gain See cases [RCV000138576] Chr4:47383124..48851860 [GRCh38]
Chr4:47385141..48853877 [GRCh37]
Chr4:47079898..48548634 [NCBI36]
Chr4:4p12-11
uncertain significance
GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3 copy number gain See cases [RCV000240190] Chr4:38532827..49064044 [GRCh37]
Chr4:4p14-11
pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_000812.4(GABRB1):c.157C>T (p.Arg53Trp) single nucleotide variant Developmental and epileptic encephalopathy, 45 [RCV000496103] Chr4:47031990 [GRCh38]
Chr4:47034007 [GRCh37]
Chr4:4p12
likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1
pathogenic
NM_000812.4(GABRB1):c.1263C>G (p.His421Gln) single nucleotide variant GABRB1-related disorder [RCV003935348]|not provided [RCV000514482] Chr4:47425856 [GRCh38]
Chr4:47427873 [GRCh37]
Chr4:4p12
benign|likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_000812.4(GABRB1):c.544+3G>A single nucleotide variant not provided [RCV000658996] Chr4:47320212 [GRCh38]
Chr4:47322229 [GRCh37]
Chr4:4p12
uncertain significance
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11
pathogenic
NM_000812.4(GABRB1):c.1299C>A (p.Ala433=) single nucleotide variant not provided [RCV000943527] Chr4:47425892 [GRCh38]
Chr4:47427909 [GRCh37]
Chr4:4p12
benign
NM_000812.4(GABRB1):c.1236G>A (p.Glu412=) single nucleotide variant not provided [RCV000925204] Chr4:47425829 [GRCh38]
Chr4:47427846 [GRCh37]
Chr4:4p12
benign
NM_000812.4(GABRB1):c.774A>T (p.Thr258=) single nucleotide variant GABRB1-related disorder [RCV003940394]|not provided [RCV000879966] Chr4:47403650 [GRCh38]
Chr4:47405667 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1335T>C (p.Asp445=) single nucleotide variant not provided [RCV000914435] Chr4:47425928 [GRCh38]
Chr4:47427945 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.687G>A (p.Ala229=) single nucleotide variant not provided [RCV000903738] Chr4:47403563 [GRCh38]
Chr4:47405580 [GRCh37]
Chr4:4p12
benign
NM_000812.4(GABRB1):c.835+6A>G single nucleotide variant not provided [RCV000903739] Chr4:47403717 [GRCh38]
Chr4:47405734 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1033G>A (p.Asp345Asn) single nucleotide variant not provided [RCV000886127] Chr4:47406879 [GRCh38]
Chr4:47408896 [GRCh37]
Chr4:4p12
benign
NM_000812.4(GABRB1):c.987C>T (p.Tyr329=) single nucleotide variant GABRB1-related disorder [RCV003913258]|not provided [RCV000948677] Chr4:47406833 [GRCh38]
Chr4:47408850 [GRCh37]
Chr4:4p12
benign
NM_000812.4(GABRB1):c.414T>C (p.Asn138=) single nucleotide variant GABRB1-related disorder [RCV003925782]|not provided [RCV000925911] Chr4:47161422 [GRCh38]
Chr4:47163439 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.879C>T (p.Leu293=) single nucleotide variant GABRB1-related disorder [RCV003918461]|not provided [RCV000971273] Chr4:47406725 [GRCh38]
Chr4:47408742 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.307C>T (p.Pro103Ser) single nucleotide variant Developmental and epileptic encephalopathy, 45 [RCV000790968] Chr4:47161315 [GRCh38]
Chr4:47163332 [GRCh37]
Chr4:4p12
uncertain significance
GRCh37/hg19 4p12-11(chr4:45868775-48273513)x3 copy number gain Autism [RCV000993707] Chr4:45868775..48273513 [GRCh37]
Chr4:4p12-11
likely pathogenic
GRCh37/hg19 4p12(chr4:47216804-47472305)x3 copy number gain not provided [RCV001005538] Chr4:47216804..47472305 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.52A>G (p.Met18Val) single nucleotide variant GABRB1-related disorder [RCV003900930]|not provided [RCV003104414]|not specified [RCV004244498] Chr4:47031703 [GRCh38]
Chr4:47033720 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.80+24_80+25del deletion Developmental and epileptic encephalopathy, 45 [RCV001702039]|not specified [RCV004594535] Chr4:47031754..47031755 [GRCh38]
Chr4:47033771..47033772 [GRCh37]
Chr4:4p12
benign
NM_000812.4(GABRB1):c.508= (p.Leu170=) variation not provided [RCV000953519] Chr4:47320173 [GRCh38]
Chr4:47322190 [GRCh37]
Chr4:4p12
benign
NM_000812.4(GABRB1):c.1329G>A (p.Leu443=) single nucleotide variant not provided [RCV000954623] Chr4:47425922 [GRCh38]
Chr4:47427939 [GRCh37]
Chr4:4p12
benign|likely benign
NM_000812.4(GABRB1):c.1251C>T (p.Ala417=) single nucleotide variant not provided [RCV000931348] Chr4:47425844 [GRCh38]
Chr4:47427861 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.237T>C (p.Asn79=) single nucleotide variant not provided [RCV000940570] Chr4:47032481 [GRCh38]
Chr4:47034498 [GRCh37]
Chr4:4p12
likely benign
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11
pathogenic
NM_000812.4(GABRB1):c.854C>A (p.Thr285Lys) single nucleotide variant Developmental and epileptic encephalopathy, 45 [RCV001262679] Chr4:47406700 [GRCh38]
Chr4:47408717 [GRCh37]
Chr4:4p12
likely pathogenic
NM_000812.4(GABRB1):c.740T>C (p.Ile247Thr) single nucleotide variant Developmental and epileptic encephalopathy, 45 [RCV001264781] Chr4:47403616 [GRCh38]
Chr4:47405633 [GRCh37]
Chr4:4p12
pathogenic
NM_000812.4(GABRB1):c.629A>G (p.Gln210Arg) single nucleotide variant Developmental and epileptic encephalopathy, 45 [RCV001336995] Chr4:47403402 [GRCh38]
Chr4:47405419 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1214G>A (p.Arg405His) single nucleotide variant Developmental and epileptic encephalopathy, 45 [RCV004799569]|not provided [RCV001871634] Chr4:47425807 [GRCh38]
Chr4:47427824 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.846A>G (p.Thr282=) single nucleotide variant Developmental and epileptic encephalopathy, 45 [RCV001702245]|not provided [RCV001695542]|not specified [RCV004594524] Chr4:47406692 [GRCh38]
Chr4:47408709 [GRCh37]
Chr4:4p12
benign
NM_000812.4(GABRB1):c.1277A>G (p.Lys426Arg) single nucleotide variant GABRB1-related disorder [RCV003921054]|not provided [RCV001501355] Chr4:47425870 [GRCh38]
Chr4:47427887 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.757C>T (p.Pro253Ser) single nucleotide variant Developmental and epileptic encephalopathy, 45 [RCV001728044]|GABRB1-related disorder [RCV003401660]|not provided [RCV002539777] Chr4:47403633 [GRCh38]
Chr4:47405650 [GRCh37]
Chr4:4p12
likely pathogenic|uncertain significance
NM_000812.4(GABRB1):c.1270C>T (p.Pro424Ser) single nucleotide variant not provided [RCV001914546] Chr4:47425863 [GRCh38]
Chr4:47427880 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1208A>G (p.Gln403Arg) single nucleotide variant not provided [RCV001971414]|not specified [RCV004042334] Chr4:47425801 [GRCh38]
Chr4:47427818 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.299C>T (p.Ser100Phe) single nucleotide variant not provided [RCV002009245] Chr4:47161307 [GRCh38]
Chr4:47163324 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1417G>A (p.Val473Ile) single nucleotide variant not provided [RCV001863548] Chr4:47426010 [GRCh38]
Chr4:47428027 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1399G>A (p.Val467Ile) single nucleotide variant not provided [RCV001985882] Chr4:47425992 [GRCh38]
Chr4:47428009 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.776T>C (p.Ile259Thr) single nucleotide variant not provided [RCV001872284] Chr4:47403652 [GRCh38]
Chr4:47405669 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.835+5T>G single nucleotide variant not provided [RCV002044230] Chr4:47403716 [GRCh38]
Chr4:47405733 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.163G>A (p.Asp55Asn) single nucleotide variant not provided [RCV001949145]|not specified [RCV004043053] Chr4:47031996 [GRCh38]
Chr4:47034013 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.208G>T (p.Ala70Ser) single nucleotide variant not provided [RCV001873839] Chr4:47032452 [GRCh38]
Chr4:47034469 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.173-5G>A single nucleotide variant not provided [RCV002002752] Chr4:47032412 [GRCh38]
Chr4:47034429 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.640G>A (p.Val214Ile) single nucleotide variant not provided [RCV001890535] Chr4:47403413 [GRCh38]
Chr4:47405430 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.967G>T (p.Glu323Ter) single nucleotide variant not provided [RCV001893386] Chr4:47406813 [GRCh38]
Chr4:47408830 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.46C>A (p.Pro16Thr) single nucleotide variant not provided [RCV001871155] Chr4:47031697 [GRCh38]
Chr4:47033714 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1099A>G (p.Ile367Val) single nucleotide variant not provided [RCV001912270] Chr4:47425692 [GRCh38]
Chr4:47427709 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.17A>G (p.Asn6Ser) single nucleotide variant not provided [RCV002042912] Chr4:47031668 [GRCh38]
Chr4:47033685 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.162G>A (p.Pro54=) single nucleotide variant not provided [RCV002040068] Chr4:47031995 [GRCh38]
Chr4:47034012 [GRCh37]
Chr4:4p12
likely benign|uncertain significance
NM_000812.4(GABRB1):c.1142C>T (p.Ser381Leu) single nucleotide variant Developmental and epileptic encephalopathy, 45 [RCV003134181]|not provided [RCV001912265] Chr4:47425735 [GRCh38]
Chr4:47427752 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.586G>A (p.Gly196Arg) single nucleotide variant not provided [RCV002044440] Chr4:47403359 [GRCh38]
Chr4:47405376 [GRCh37]
Chr4:4p12
uncertain significance
NC_000004.11:g.(?_46252325)_(47163506_?)del deletion not provided [RCV001967602] Chr4:46252325..47163506 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.240+3G>A single nucleotide variant not provided [RCV001969605] Chr4:47032487 [GRCh38]
Chr4:47034504 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1242C>T (p.Tyr414=) single nucleotide variant not provided [RCV001943175] Chr4:47425835 [GRCh38]
Chr4:47427852 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1054A>G (p.Asn352Asp) single nucleotide variant not provided [RCV001919858] Chr4:47406900 [GRCh38]
Chr4:47408917 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.416G>A (p.Arg139Gln) single nucleotide variant not provided [RCV001906495] Chr4:47161424 [GRCh38]
Chr4:47163441 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1064A>G (p.Glu355Gly) single nucleotide variant not provided [RCV001934789] Chr4:47406910 [GRCh38]
Chr4:47408927 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.406G>A (p.Val136Met) single nucleotide variant not provided [RCV001936349]|not specified [RCV004041855] Chr4:47161414 [GRCh38]
Chr4:47163431 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1247G>A (p.Arg416His) single nucleotide variant not provided [RCV002010264] Chr4:47425840 [GRCh38]
Chr4:47427857 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1003G>T (p.Gly335Cys) single nucleotide variant not provided [RCV001880987] Chr4:47406849 [GRCh38]
Chr4:47408866 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.470C>G (p.Thr157Ser) single nucleotide variant not provided [RCV002011792] Chr4:47320135 [GRCh38]
Chr4:47322152 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.91C>T (p.Pro31Ser) single nucleotide variant not provided [RCV001991496] Chr4:47031924 [GRCh38]
Chr4:47033941 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1243G>A (p.Gly415Arg) single nucleotide variant not provided [RCV001921951] Chr4:47425836 [GRCh38]
Chr4:47427853 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.172+6G>T single nucleotide variant not provided [RCV001975709] Chr4:47032011 [GRCh38]
Chr4:47034028 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.172+3A>C single nucleotide variant not provided [RCV001915767] Chr4:47032008 [GRCh38]
Chr4:47034025 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1232G>T (p.Arg411Leu) single nucleotide variant not provided [RCV001930421] Chr4:47425825 [GRCh38]
Chr4:47427842 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1033G>C (p.Asp345His) single nucleotide variant not provided [RCV002028890] Chr4:47406879 [GRCh38]
Chr4:47408896 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1123C>T (p.Arg375Trp) single nucleotide variant not provided [RCV002029030] Chr4:47425716 [GRCh38]
Chr4:47427733 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.581A>G (p.Asn194Ser) single nucleotide variant not provided [RCV001904148] Chr4:47403354 [GRCh38]
Chr4:47405371 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.382A>C (p.Lys128Gln) single nucleotide variant not provided [RCV002018228] Chr4:47161390 [GRCh38]
Chr4:47163407 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.81-3T>C single nucleotide variant not provided [RCV002013173] Chr4:47031911 [GRCh38]
Chr4:47033928 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.713G>A (p.Arg238His) single nucleotide variant not provided [RCV001897656] Chr4:47403589 [GRCh38]
Chr4:47405606 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1198G>T (p.Ala400Ser) single nucleotide variant not provided [RCV001979744] Chr4:47425791 [GRCh38]
Chr4:47427808 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1231C>A (p.Arg411Ser) single nucleotide variant not provided [RCV001866935]|not specified [RCV004039024] Chr4:47425824 [GRCh38]
Chr4:47427841 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.646T>C (p.Tyr216His) single nucleotide variant not provided [RCV001952726] Chr4:47403419 [GRCh38]
Chr4:47405436 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1333G>A (p.Asp445Asn) single nucleotide variant not provided [RCV001997960] Chr4:47425926 [GRCh38]
Chr4:47427943 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.86A>G (p.Asn29Ser) single nucleotide variant not provided [RCV002051400]|not specified [RCV004038877] Chr4:47031919 [GRCh38]
Chr4:47033936 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.136A>G (p.Lys46Glu) single nucleotide variant not provided [RCV001954060] Chr4:47031969 [GRCh38]
Chr4:47033986 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1412A>G (p.Tyr471Cys) single nucleotide variant not provided [RCV001934451] Chr4:47426005 [GRCh38]
Chr4:47428022 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.598_601dup (p.Thr201fs) duplication not provided [RCV001883026] Chr4:47403368..47403369 [GRCh38]
Chr4:47405385..47405386 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.537C>A (p.Ile179=) single nucleotide variant not provided [RCV002073462]|not specified [RCV004594620] Chr4:47320202 [GRCh38]
Chr4:47322219 [GRCh37]
Chr4:4p12
benign
NM_000812.4(GABRB1):c.441A>G (p.Gly147=) single nucleotide variant not provided [RCV002168380] Chr4:47161449 [GRCh38]
Chr4:47163466 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.210C>T (p.Ala70=) single nucleotide variant not provided [RCV002185994] Chr4:47032454 [GRCh38]
Chr4:47034471 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.315C>T (p.Asn105=) single nucleotide variant not provided [RCV002190602] Chr4:47161323 [GRCh38]
Chr4:47163340 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.545-13T>C single nucleotide variant not provided [RCV002127474] Chr4:47403305 [GRCh38]
Chr4:47405322 [GRCh37]
Chr4:4p12
benign
NM_000812.4(GABRB1):c.558T>G (p.Thr186=) single nucleotide variant not provided [RCV002205057] Chr4:47403331 [GRCh38]
Chr4:47405348 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.80+24_80+29del deletion not provided [RCV002191507] Chr4:47031751..47031756 [GRCh38]
Chr4:47033768..47033773 [GRCh37]
Chr4:4p12
benign
NM_000812.4(GABRB1):c.461+9del deletion not provided [RCV002209166] Chr4:47161478 [GRCh38]
Chr4:47163495 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.80+20TC[3] microsatellite not provided [RCV002127320] Chr4:47031750..47031751 [GRCh38]
Chr4:47033767..47033768 [GRCh37]
Chr4:4p12
benign
NM_000812.4(GABRB1):c.468A>C (p.Thr156=) single nucleotide variant not provided [RCV002191393] Chr4:47320133 [GRCh38]
Chr4:47322150 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.544+13G>A single nucleotide variant not provided [RCV002169712] Chr4:47320222 [GRCh38]
Chr4:47322239 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.897G>A (p.Lys299=) single nucleotide variant not provided [RCV002146861] Chr4:47406743 [GRCh38]
Chr4:47408760 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.174G>T (p.Gly58=) single nucleotide variant not provided [RCV002112148] Chr4:47032418 [GRCh38]
Chr4:47034435 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.462-20T>C single nucleotide variant not provided [RCV002075988] Chr4:47320107 [GRCh38]
Chr4:47322124 [GRCh37]
Chr4:4p12
benign
NM_000812.4(GABRB1):c.173-4G>A single nucleotide variant not provided [RCV002185025] Chr4:47032413 [GRCh38]
Chr4:47034430 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.173-13A>T single nucleotide variant not provided [RCV002107524] Chr4:47032404 [GRCh38]
Chr4:47034421 [GRCh37]
Chr4:4p12
benign
NM_000812.4(GABRB1):c.792T>C (p.Ser264=) single nucleotide variant not provided [RCV002190048] Chr4:47403668 [GRCh38]
Chr4:47405685 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.701C>G (p.Ser234Ter) single nucleotide variant not specified [RCV002247850] Chr4:47403577 [GRCh38]
Chr4:47405594 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.408G>A (p.Val136=) single nucleotide variant GABRB1-related disorder [RCV003948887]|not provided [RCV002087494] Chr4:47161416 [GRCh38]
Chr4:47163433 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1320C>A (p.Ile440=) single nucleotide variant not provided [RCV002194154] Chr4:47425913 [GRCh38]
Chr4:47427930 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.759T>G (p.Pro253=) single nucleotide variant not provided [RCV002116500] Chr4:47403635 [GRCh38]
Chr4:47405652 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.241-11T>G single nucleotide variant not provided [RCV002165844] Chr4:47161238 [GRCh38]
Chr4:47163255 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.117G>A (p.Glu39=) single nucleotide variant not provided [RCV002171530] Chr4:47031950 [GRCh38]
Chr4:47033967 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.80+15T>C single nucleotide variant not provided [RCV002188517] Chr4:47031746 [GRCh38]
Chr4:47033763 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.849G>A (p.Val283=) single nucleotide variant not provided [RCV002087157] Chr4:47406695 [GRCh38]
Chr4:47408712 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1080+19C>G single nucleotide variant not provided [RCV002079870] Chr4:47406945 [GRCh38]
Chr4:47408962 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.990C>A (p.Ile330=) single nucleotide variant not provided [RCV002093498] Chr4:47406836 [GRCh38]
Chr4:47408853 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.246T>C (p.Tyr82=) single nucleotide variant not provided [RCV002196013] Chr4:47161254 [GRCh38]
Chr4:47163271 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1041T>G (p.Ser347Arg) single nucleotide variant not provided [RCV002115814]|not specified [RCV004616996] Chr4:47406887 [GRCh38]
Chr4:47408904 [GRCh37]
Chr4:4p12
benign|uncertain significance
NM_000812.4(GABRB1):c.462-9_462-6del microsatellite not provided [RCV002172492] Chr4:47320116..47320119 [GRCh38]
Chr4:47322133..47322136 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.80+24_80+33del deletion not provided [RCV002128765] Chr4:47031751..47031760 [GRCh38]
Chr4:47033768..47033777 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.81-13T>A single nucleotide variant not provided [RCV002079961] Chr4:47031901 [GRCh38]
Chr4:47033918 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1395T>C (p.Asn465=) single nucleotide variant not provided [RCV002170601] Chr4:47425988 [GRCh38]
Chr4:47428005 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.172+19dup duplication not provided [RCV002115916] Chr4:47032018..47032019 [GRCh38]
Chr4:47034035..47034036 [GRCh37]
Chr4:4p12
benign
NM_000812.4(GABRB1):c.1107C>T (p.Leu369=) single nucleotide variant not provided [RCV002116634] Chr4:47425700 [GRCh38]
Chr4:47427717 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1299C>T (p.Ala433=) single nucleotide variant not provided [RCV002075716] Chr4:47425892 [GRCh38]
Chr4:47427909 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.461+18G>C single nucleotide variant not provided [RCV002212118] Chr4:47161487 [GRCh38]
Chr4:47163504 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.828C>T (p.Val276=) single nucleotide variant not provided [RCV002131768] Chr4:47403704 [GRCh38]
Chr4:47405721 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1245G>T (p.Gly415=) single nucleotide variant not provided [RCV002082976] Chr4:47425838 [GRCh38]
Chr4:47427855 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.876C>T (p.His292=) single nucleotide variant not provided [RCV002218262] Chr4:47406722 [GRCh38]
Chr4:47408739 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.836-9C>G single nucleotide variant not provided [RCV002201428] Chr4:47406673 [GRCh38]
Chr4:47408690 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.508T>C (p.Leu170=) single nucleotide variant not provided [RCV002135654]|not specified [RCV004594623] Chr4:47320173 [GRCh38]
Chr4:47322190 [GRCh37]
Chr4:4p12
benign
NM_000812.4(GABRB1):c.354A>C (p.Val118=) single nucleotide variant not provided [RCV002102280] Chr4:47161362 [GRCh38]
Chr4:47163379 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1080+20T>C single nucleotide variant not provided [RCV002180492] Chr4:47406946 [GRCh38]
Chr4:47408963 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1149G>C (p.Val383=) single nucleotide variant not provided [RCV002083549] Chr4:47425742 [GRCh38]
Chr4:47427759 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.80+24_80+31del deletion not provided [RCV002121580] Chr4:47031751..47031758 [GRCh38]
Chr4:47033768..47033775 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.240+7G>A single nucleotide variant not provided [RCV002198167] Chr4:47032491 [GRCh38]
Chr4:47034508 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.172+17T>C single nucleotide variant not provided [RCV002154532] Chr4:47032022 [GRCh38]
Chr4:47034039 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.835+20G>T single nucleotide variant not provided [RCV002163845] Chr4:47403731 [GRCh38]
Chr4:47405748 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.462-4T>C single nucleotide variant not provided [RCV002163902] Chr4:47320123 [GRCh38]
Chr4:47322140 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.300T>C (p.Ser100=) single nucleotide variant not provided [RCV002179923] Chr4:47161308 [GRCh38]
Chr4:47163325 [GRCh37]
Chr4:4p12
benign
NM_000812.4(GABRB1):c.240+10C>T single nucleotide variant not provided [RCV002120458] Chr4:47032494 [GRCh38]
Chr4:47034511 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.597A>G (p.Ala199=) single nucleotide variant not provided [RCV002204629] Chr4:47403370 [GRCh38]
Chr4:47405387 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1092C>T (p.His364=) single nucleotide variant not provided [RCV002162564] Chr4:47425685 [GRCh38]
Chr4:47427702 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.154T>C (p.Leu52=) single nucleotide variant not provided [RCV002156998] Chr4:47031987 [GRCh38]
Chr4:47034004 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.726C>T (p.Asn242=) single nucleotide variant not provided [RCV002183978] Chr4:47403602 [GRCh38]
Chr4:47405619 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1137T>C (p.Ser379=) single nucleotide variant not provided [RCV002155795] Chr4:47425730 [GRCh38]
Chr4:47427747 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.80+22_80+23del microsatellite not provided [RCV002177315] Chr4:47031751..47031752 [GRCh38]
Chr4:47033768..47033769 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.417A>G (p.Arg139=) single nucleotide variant not provided [RCV002217017] Chr4:47161425 [GRCh38]
Chr4:47163442 [GRCh37]
Chr4:4p12
benign
NM_000812.4(GABRB1):c.836-20G>A single nucleotide variant not provided [RCV002154557] Chr4:47406662 [GRCh38]
Chr4:47408679 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.80+20TC[4] microsatellite not provided [RCV002141090] Chr4:47031750..47031751 [GRCh38]
Chr4:47033767..47033768 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.81-8C>T single nucleotide variant not provided [RCV002200481] Chr4:47031906 [GRCh38]
Chr4:47033923 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.172+13C>G single nucleotide variant not provided [RCV002179928] Chr4:47032018 [GRCh38]
Chr4:47034035 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.873C>T (p.Thr291=) single nucleotide variant not provided [RCV002135531] Chr4:47406719 [GRCh38]
Chr4:47408736 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.462-5A>G single nucleotide variant GABRB1-related disorder [RCV003923505]|not provided [RCV002199952] Chr4:47320122 [GRCh38]
Chr4:47322139 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1260G>A (p.Arg420=) single nucleotide variant not provided [RCV002121660] Chr4:47425853 [GRCh38]
Chr4:47427870 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.173-13A>G single nucleotide variant not provided [RCV002123615] Chr4:47032404 [GRCh38]
Chr4:47034421 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.975C>T (p.Ala325=) single nucleotide variant not provided [RCV002118089] Chr4:47406821 [GRCh38]
Chr4:47408838 [GRCh37]
Chr4:4p12
benign
NM_000812.4(GABRB1):c.80+14G>C single nucleotide variant not provided [RCV002183690] Chr4:47031745 [GRCh38]
Chr4:47033762 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.240+13C>T single nucleotide variant not provided [RCV002138392] Chr4:47032497 [GRCh38]
Chr4:47034514 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.60C>T (p.Thr20=) single nucleotide variant not provided [RCV002119001] Chr4:47031711 [GRCh38]
Chr4:47033728 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.545-14T>C single nucleotide variant not provided [RCV002184635] Chr4:47403304 [GRCh38]
Chr4:47405321 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1187C>T (p.Ser396Phe) single nucleotide variant not provided [RCV003114771] Chr4:47425780 [GRCh38]
Chr4:47427797 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1346T>C (p.Ile449Thr) single nucleotide variant not provided [RCV003118988] Chr4:47425939 [GRCh38]
Chr4:47427956 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1363A>C (p.Met455Leu) single nucleotide variant not provided [RCV004778174] Chr4:47425956 [GRCh38]
Chr4:47427973 [GRCh37]
Chr4:4p12
uncertain significance
NC_000004.11:g.(?_47322124)_(47428035_?)dup duplication not provided [RCV003105338] Chr4:47322124..47428035 [GRCh37]
Chr4:4p12
uncertain significance
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12
pathogenic
NM_000812.4(GABRB1):c.898A>T (p.Ile300Phe) single nucleotide variant Developmental and epileptic encephalopathy, 45 [RCV003883195]|not provided [RCV002283026] Chr4:47406744 [GRCh38]
Chr4:47408761 [GRCh37]
Chr4:4p12
likely pathogenic|uncertain significance
NM_000812.4(GABRB1):c.7A>G (p.Thr3Ala) single nucleotide variant not specified [RCV004310170] Chr4:47031658 [GRCh38]
Chr4:47033675 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1243G>C (p.Gly415Arg) single nucleotide variant Developmental and epileptic encephalopathy, 45 [RCV002471510] Chr4:47425836 [GRCh38]
Chr4:47427853 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1112C>G (p.Thr371Ser) single nucleotide variant not provided [RCV002304085] Chr4:47425705 [GRCh38]
Chr4:47427722 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.842C>T (p.Thr281Met) single nucleotide variant not provided [RCV002305956] Chr4:47406688 [GRCh38]
Chr4:47408705 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.862A>G (p.Thr288Ala) single nucleotide variant not provided [RCV002298062] Chr4:47406708 [GRCh38]
Chr4:47408725 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.544+17G>A single nucleotide variant not provided [RCV003012382] Chr4:47320226 [GRCh38]
Chr4:47322243 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1153A>C (p.Thr385Pro) single nucleotide variant not provided [RCV002686047] Chr4:47425746 [GRCh38]
Chr4:47427763 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.162G>C (p.Pro54=) single nucleotide variant not provided [RCV003012142] Chr4:47031995 [GRCh38]
Chr4:47034012 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1301C>T (p.Ser434Phe) single nucleotide variant not provided [RCV003017748] Chr4:47425894 [GRCh38]
Chr4:47427911 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1047T>C (p.Asn349=) single nucleotide variant not provided [RCV002904604] Chr4:47406893 [GRCh38]
Chr4:47408910 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1281G>A (p.Gly427=) single nucleotide variant not provided [RCV003011669] Chr4:47425874 [GRCh38]
Chr4:47427891 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.272C>T (p.Ser91Phe) single nucleotide variant not provided [RCV002690389] Chr4:47161280 [GRCh38]
Chr4:47163297 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.91C>A (p.Pro31Thr) single nucleotide variant not provided [RCV002995773] Chr4:47031924 [GRCh38]
Chr4:47033941 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.305T>C (p.Ile102Thr) single nucleotide variant not provided [RCV002842238] Chr4:47161313 [GRCh38]
Chr4:47163330 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.37C>T (p.Leu13Phe) single nucleotide variant not provided [RCV002686163] Chr4:47031688 [GRCh38]
Chr4:47033705 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.729T>C (p.Ile243=) single nucleotide variant not provided [RCV002994037] Chr4:47403605 [GRCh38]
Chr4:47405622 [GRCh37]
Chr4:4p12
benign
NM_000812.4(GABRB1):c.172+20C>A single nucleotide variant not provided [RCV003014393]|not specified [RCV004700887] Chr4:47032025 [GRCh38]
Chr4:47034042 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.173-16C>T single nucleotide variant not provided [RCV002904514] Chr4:47032401 [GRCh38]
Chr4:47034418 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.980T>A (p.Val327Glu) single nucleotide variant not provided [RCV002991624] Chr4:47406826 [GRCh38]
Chr4:47408843 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.917T>A (p.Ile306Asn) single nucleotide variant not provided [RCV003013942] Chr4:47406763 [GRCh38]
Chr4:47408780 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.402C>G (p.Val134=) single nucleotide variant not provided [RCV002623071] Chr4:47161410 [GRCh38]
Chr4:47163427 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1164C>T (p.Ser388=) single nucleotide variant not provided [RCV002618940] Chr4:47425757 [GRCh38]
Chr4:47427774 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1264G>A (p.Gly422Arg) single nucleotide variant not provided [RCV002927854] Chr4:47425857 [GRCh38]
Chr4:47427874 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1241A>G (p.Tyr414Cys) single nucleotide variant not provided [RCV002658627]|not specified [RCV004066741] Chr4:47425834 [GRCh38]
Chr4:47427851 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.643G>A (p.Asp215Asn) single nucleotide variant not provided [RCV002796838] Chr4:47403416 [GRCh38]
Chr4:47405433 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1080+7T>C single nucleotide variant not provided [RCV003054229] Chr4:47406933 [GRCh38]
Chr4:47408950 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1301C>G (p.Ser434Cys) single nucleotide variant not provided [RCV002846329] Chr4:47425894 [GRCh38]
Chr4:47427911 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.236A>G (p.Asn79Ser) single nucleotide variant not provided [RCV002910170] Chr4:47032480 [GRCh38]
Chr4:47034497 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.444A>G (p.Thr148=) single nucleotide variant not provided [RCV003053998] Chr4:47161452 [GRCh38]
Chr4:47163469 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.313A>G (p.Asn105Asp) single nucleotide variant not provided [RCV002820911] Chr4:47161321 [GRCh38]
Chr4:47163338 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1239C>A (p.Ala413=) single nucleotide variant not provided [RCV002820955] Chr4:47425832 [GRCh38]
Chr4:47427849 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.13C>G (p.Gln5Glu) single nucleotide variant not provided [RCV002948719] Chr4:47031664 [GRCh38]
Chr4:47033681 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.26G>C (p.Ser9Thr) single nucleotide variant not provided [RCV002638752] Chr4:47031677 [GRCh38]
Chr4:47033694 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1246C>T (p.Arg416Cys) single nucleotide variant not provided [RCV002735111] Chr4:47425839 [GRCh38]
Chr4:47427856 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.386C>G (p.Ser129Ter) single nucleotide variant not provided [RCV003035806] Chr4:47161394 [GRCh38]
Chr4:47163411 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.173-8C>G single nucleotide variant not provided [RCV002926871] Chr4:47032409 [GRCh38]
Chr4:47034426 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.241-14T>C single nucleotide variant not provided [RCV002824399] Chr4:47161235 [GRCh38]
Chr4:47163252 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1269A>G (p.Val423=) single nucleotide variant not provided [RCV002636812] Chr4:47425862 [GRCh38]
Chr4:47427879 [GRCh37]
Chr4:4p12
benign
NM_000812.4(GABRB1):c.1380C>A (p.Thr460=) single nucleotide variant not provided [RCV002785436] Chr4:47425973 [GRCh38]
Chr4:47427990 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1159G>A (p.Val387Met) single nucleotide variant not provided [RCV002927493] Chr4:47425752 [GRCh38]
Chr4:47427769 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.180C>G (p.Pro60=) single nucleotide variant not provided [RCV003059128] Chr4:47032424 [GRCh38]
Chr4:47034441 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1108A>G (p.Ser370Gly) single nucleotide variant not provided [RCV002710831] Chr4:47425701 [GRCh38]
Chr4:47427718 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.462-4T>A single nucleotide variant not provided [RCV002830023] Chr4:47320123 [GRCh38]
Chr4:47322140 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.270G>A (p.Gln90=) single nucleotide variant not provided [RCV003008125] Chr4:47161278 [GRCh38]
Chr4:47163295 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.462-18C>G single nucleotide variant not provided [RCV002575300] Chr4:47320109 [GRCh38]
Chr4:47322126 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1264G>T (p.Gly422Trp) single nucleotide variant not provided [RCV003008277] Chr4:47425857 [GRCh38]
Chr4:47427874 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.544+18G>C single nucleotide variant not provided [RCV003043583] Chr4:47320227 [GRCh38]
Chr4:47322244 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.682+18A>G single nucleotide variant not provided [RCV002932513] Chr4:47403473 [GRCh38]
Chr4:47405490 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.37C>G (p.Leu13Val) single nucleotide variant not provided [RCV002700615] Chr4:47031688 [GRCh38]
Chr4:47033705 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.990C>T (p.Ile330=) single nucleotide variant not provided [RCV003039788] Chr4:47406836 [GRCh38]
Chr4:47408853 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.566T>C (p.Ile189Thr) single nucleotide variant not provided [RCV002666870] Chr4:47403339 [GRCh38]
Chr4:47405356 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.173-12C>T single nucleotide variant not provided [RCV003057416] Chr4:47032405 [GRCh38]
Chr4:47034422 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.122T>C (p.Val41Ala) single nucleotide variant not provided [RCV002917740] Chr4:47031955 [GRCh38]
Chr4:47033972 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1287C>T (p.Ile429=) single nucleotide variant not provided [RCV002932278] Chr4:47425880 [GRCh38]
Chr4:47427897 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.99C>A (p.Asn33Lys) single nucleotide variant not provided [RCV002801534] Chr4:47031932 [GRCh38]
Chr4:47033949 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.835+15G>A single nucleotide variant not provided [RCV002894076] Chr4:47403726 [GRCh38]
Chr4:47405743 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.418A>C (p.Met140Leu) single nucleotide variant not provided [RCV003056308] Chr4:47161426 [GRCh38]
Chr4:47163443 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.80+14G>A single nucleotide variant not provided [RCV002918421] Chr4:47031745 [GRCh38]
Chr4:47033762 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.621A>G (p.Glu207=) single nucleotide variant not provided [RCV002800866] Chr4:47403394 [GRCh38]
Chr4:47405411 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.241-18G>A single nucleotide variant not provided [RCV003056222] Chr4:47161231 [GRCh38]
Chr4:47163248 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.687G>T (p.Ala229=) single nucleotide variant not provided [RCV002937329] Chr4:47403563 [GRCh38]
Chr4:47405580 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1263C>T (p.His421=) single nucleotide variant not provided [RCV002721082] Chr4:47425856 [GRCh38]
Chr4:47427873 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.172+11A>T single nucleotide variant not provided [RCV002810829] Chr4:47032016 [GRCh38]
Chr4:47034033 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.241-11T>C single nucleotide variant not provided [RCV002631282] Chr4:47161238 [GRCh38]
Chr4:47163255 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.296A>T (p.Tyr99Phe) single nucleotide variant not provided [RCV003045280] Chr4:47161304 [GRCh38]
Chr4:47163321 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1103T>G (p.Leu368Arg) single nucleotide variant not provided [RCV002716922] Chr4:47425696 [GRCh38]
Chr4:47427713 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1371C>T (p.Phe457=) single nucleotide variant not provided [RCV002791743] Chr4:47425964 [GRCh38]
Chr4:47427981 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.698T>G (p.Leu233Arg) single nucleotide variant not provided [RCV002834631] Chr4:47403574 [GRCh38]
Chr4:47405591 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.513T>C (p.Asp171=) single nucleotide variant not provided [RCV002650435] Chr4:47320178 [GRCh38]
Chr4:47322195 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1403A>T (p.Tyr468Phe) single nucleotide variant not provided [RCV003026435] Chr4:47425996 [GRCh38]
Chr4:47428013 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1338_1339insTCTTTGATCCCCGACTTGACTGATGTG (p.Val446_Asn447insSerLeuIleProAspLeuThrAspVal) insertion not provided [RCV002601165] Chr4:47425909..47425910 [GRCh38]
Chr4:47427926..47427927 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.915G>A (p.Ala305=) single nucleotide variant not provided [RCV002806000] Chr4:47406761 [GRCh38]
Chr4:47408778 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.47C>A (p.Pro16His) single nucleotide variant not provided [RCV002716894] Chr4:47031698 [GRCh38]
Chr4:47033715 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.340G>C (p.Asp114His) single nucleotide variant not provided [RCV002832836] Chr4:47161348 [GRCh38]
Chr4:47163365 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.717A>G (p.Leu239=) single nucleotide variant not provided [RCV002857297] Chr4:47403593 [GRCh38]
Chr4:47405610 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.829G>A (p.Ala277Thr) single nucleotide variant not provided [RCV002966220] Chr4:47403705 [GRCh38]
Chr4:47405722 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.618C>A (p.Ile206=) single nucleotide variant not provided [RCV002716361] Chr4:47403391 [GRCh38]
Chr4:47405408 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.150T>C (p.Ile50=) single nucleotide variant not provided [RCV002647616] Chr4:47031983 [GRCh38]
Chr4:47034000 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.558T>C (p.Thr186=) single nucleotide variant not provided [RCV002633596] Chr4:47403331 [GRCh38]
Chr4:47405348 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.188T>C (p.Val63Ala) single nucleotide variant not provided [RCV002676762] Chr4:47032432 [GRCh38]
Chr4:47034449 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.34C>T (p.Leu12Phe) single nucleotide variant not provided [RCV002654119] Chr4:47031685 [GRCh38]
Chr4:47033702 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.33G>C (p.Gly11=) single nucleotide variant not provided [RCV002658395] Chr4:47031684 [GRCh38]
Chr4:47033701 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1237_1238delinsTT (p.Ala413Phe) indel not provided [RCV002815079] Chr4:47425830..47425831 [GRCh38]
Chr4:47427847..47427848 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.180C>A (p.Pro60=) single nucleotide variant not provided [RCV002942595] Chr4:47032424 [GRCh38]
Chr4:47034441 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.480A>G (p.Ala160=) single nucleotide variant not provided [RCV002943468] Chr4:47320145 [GRCh38]
Chr4:47322162 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1278G>A (p.Lys426=) single nucleotide variant not provided [RCV002609195] Chr4:47425871 [GRCh38]
Chr4:47427888 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1001A>G (p.Lys334Arg) single nucleotide variant not provided [RCV002681020] Chr4:47406847 [GRCh38]
Chr4:47408864 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.11T>C (p.Val4Ala) single nucleotide variant not provided [RCV002609654] Chr4:47031662 [GRCh38]
Chr4:47033679 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.618C>T (p.Ile206=) single nucleotide variant Developmental and epileptic encephalopathy, 45 [RCV003492802]|not provided [RCV002585566] Chr4:47403391 [GRCh38]
Chr4:47405408 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1087G>A (p.Ala363Thr) single nucleotide variant not provided [RCV002612990] Chr4:47425680 [GRCh38]
Chr4:47427697 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.843G>A (p.Thr281=) single nucleotide variant not provided [RCV002588550] Chr4:47406689 [GRCh38]
Chr4:47408706 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.544+19G>A single nucleotide variant not provided [RCV002613316] Chr4:47320228 [GRCh38]
Chr4:47322245 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.462-9C>T single nucleotide variant not provided [RCV002609892] Chr4:47320118 [GRCh38]
Chr4:47322135 [GRCh37]
Chr4:4p12
benign
NM_000812.4(GABRB1):c.80+3G>A single nucleotide variant GABRB1-related disorder [RCV003916717]|not provided [RCV003050810] Chr4:47031734 [GRCh38]
Chr4:47033751 [GRCh37]
Chr4:4p12
likely benign|uncertain significance
NM_000812.4(GABRB1):c.1259G>C (p.Arg420Pro) single nucleotide variant not specified [RCV004280066] Chr4:47425852 [GRCh38]
Chr4:47427869 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.866T>C (p.Ile289Thr) single nucleotide variant not provided [RCV003329092] Chr4:47406712 [GRCh38]
Chr4:47408729 [GRCh37]
Chr4:4p12
uncertain significance
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12
pathogenic
NM_000812.4(GABRB1):c.1128T>A (p.Asn376Lys) single nucleotide variant not provided [RCV003327137] Chr4:47425721 [GRCh38]
Chr4:47427738 [GRCh37]
Chr4:4p12
uncertain significance
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11
pathogenic
NM_000812.4(GABRB1):c.1075G>A (p.Val359Ile) single nucleotide variant not provided [RCV003330036] Chr4:47406921 [GRCh38]
Chr4:47408938 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.74C>G (p.Ala25Gly) single nucleotide variant Developmental and epileptic encephalopathy, 45 [RCV003340986] Chr4:47031725 [GRCh38]
Chr4:47033742 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1139_1140delinsTT (p.Gly380Val) indel not provided [RCV003712553] Chr4:47425732..47425733 [GRCh38]
Chr4:47427749..47427750 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.36T>A (p.Leu12=) single nucleotide variant not provided [RCV003571247] Chr4:47031687 [GRCh38]
Chr4:47033704 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1401C>G (p.Val467=) single nucleotide variant not provided [RCV003571251] Chr4:47425994 [GRCh38]
Chr4:47428011 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1136G>C (p.Ser379Thr) single nucleotide variant not provided [RCV003712552] Chr4:47425729 [GRCh38]
Chr4:47427746 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.63G>C (p.Met21Ile) single nucleotide variant not provided [RCV003543256] Chr4:47031714 [GRCh38]
Chr4:47033731 [GRCh37]
Chr4:4p12
uncertain significance
GRCh37/hg19 4p12(chr4:47375627-47618689)x3 copy number gain not provided [RCV003484176] Chr4:47375627..47618689 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.744G>A (p.Leu248=) single nucleotide variant not provided [RCV003435012] Chr4:47403620 [GRCh38]
Chr4:47405637 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.510G>A (p.Leu170=) single nucleotide variant not provided [RCV003573875] Chr4:47320175 [GRCh38]
Chr4:47322192 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.789G>A (p.Val263=) single nucleotide variant not provided [RCV003696605] Chr4:47403665 [GRCh38]
Chr4:47405682 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.766C>T (p.Leu256=) single nucleotide variant not provided [RCV003661091] Chr4:47403642 [GRCh38]
Chr4:47405659 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1007C>A (p.Pro336His) single nucleotide variant not provided [RCV003695651] Chr4:47406853 [GRCh38]
Chr4:47408870 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.846A>T (p.Thr282=) single nucleotide variant not provided [RCV003875804] Chr4:47406692 [GRCh38]
Chr4:47408709 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1065G>A (p.Glu355=) single nucleotide variant not provided [RCV003576652] Chr4:47406911 [GRCh38]
Chr4:47408928 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.461+19C>T single nucleotide variant not provided [RCV003688444] Chr4:47161488 [GRCh38]
Chr4:47163505 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.241-2A>C single nucleotide variant not provided [RCV003686696] Chr4:47161247 [GRCh38]
Chr4:47163264 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.653T>C (p.Met218Thr) single nucleotide variant not provided [RCV003544941] Chr4:47403426 [GRCh38]
Chr4:47405443 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1217A>G (p.Lys406Arg) single nucleotide variant not provided [RCV003578574] Chr4:47425810 [GRCh38]
Chr4:47427827 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1043C>T (p.Ala348Val) single nucleotide variant not provided [RCV003686942] Chr4:47406889 [GRCh38]
Chr4:47408906 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.119C>G (p.Thr40Arg) single nucleotide variant not provided [RCV003575676] Chr4:47031952 [GRCh38]
Chr4:47033969 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.215T>G (p.Ile72Arg) single nucleotide variant not provided [RCV003691422] Chr4:47032459 [GRCh38]
Chr4:47034476 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1321C>A (p.Pro441Thr) single nucleotide variant not provided [RCV003716694] Chr4:47425914 [GRCh38]
Chr4:47427931 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.493C>G (p.Leu165Val) single nucleotide variant not provided [RCV003663728] Chr4:47320158 [GRCh38]
Chr4:47322175 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1045A>G (p.Asn349Asp) single nucleotide variant not provided [RCV003697356] Chr4:47406891 [GRCh38]
Chr4:47408908 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.544+11T>G single nucleotide variant not provided [RCV003697484] Chr4:47320220 [GRCh38]
Chr4:47322237 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1283G>A (p.Arg428His) single nucleotide variant not provided [RCV003856269] Chr4:47425876 [GRCh38]
Chr4:47427893 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.240+19G>C single nucleotide variant not provided [RCV003839513] Chr4:47032503 [GRCh38]
Chr4:47034520 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1086C>T (p.Asp362=) single nucleotide variant not provided [RCV003836688] Chr4:47425679 [GRCh38]
Chr4:47427696 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1219C>T (p.Pro407Ser) single nucleotide variant not provided [RCV003850560] Chr4:47425812 [GRCh38]
Chr4:47427829 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.58A>G (p.Thr20Ala) single nucleotide variant not provided [RCV003726313] Chr4:47031709 [GRCh38]
Chr4:47033726 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.368T>A (p.Phe123Tyr) single nucleotide variant not provided [RCV003701315] Chr4:47161376 [GRCh38]
Chr4:47163393 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.835+7C>T single nucleotide variant not provided [RCV003834713] Chr4:47403718 [GRCh38]
Chr4:47405735 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.178C>T (p.Pro60Ser) single nucleotide variant not provided [RCV003667150] Chr4:47032422 [GRCh38]
Chr4:47034439 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.172+7C>T single nucleotide variant not provided [RCV003725483] Chr4:47032012 [GRCh38]
Chr4:47034029 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.544+17G>C single nucleotide variant not provided [RCV003834825] Chr4:47320226 [GRCh38]
Chr4:47322243 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.461+7G>A single nucleotide variant not provided [RCV003670878] Chr4:47161476 [GRCh38]
Chr4:47163493 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.173-6C>T single nucleotide variant not provided [RCV003696915] Chr4:47032411 [GRCh38]
Chr4:47034428 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.837A>G (p.Gly279=) single nucleotide variant not provided [RCV003697702] Chr4:47406683 [GRCh38]
Chr4:47408700 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1214_1215delinsTT (p.Arg405Leu) indel not provided [RCV003700622] Chr4:47425807..47425808 [GRCh38]
Chr4:47427824..47427825 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.734A>G (p.Tyr245Cys) single nucleotide variant not provided [RCV003832428] Chr4:47403610 [GRCh38]
Chr4:47405627 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.545-20G>T single nucleotide variant not provided [RCV003671452] Chr4:47403298 [GRCh38]
Chr4:47405315 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.61A>G (p.Met21Val) single nucleotide variant not provided [RCV003708374] Chr4:47031712 [GRCh38]
Chr4:47033729 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1220C>G (p.Pro407Arg) single nucleotide variant not provided [RCV003705426] Chr4:47425813 [GRCh38]
Chr4:47427830 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1080+16_1080+21dup duplication not provided [RCV003846541] Chr4:47406939..47406940 [GRCh38]
Chr4:47408956..47408957 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1157G>A (p.Ser386Asn) single nucleotide variant not provided [RCV003679507] Chr4:47425750 [GRCh38]
Chr4:47427767 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.175C>T (p.Pro59Ser) single nucleotide variant not provided [RCV003861867] Chr4:47032419 [GRCh38]
Chr4:47034436 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1013A>C (p.Lys338Thr) single nucleotide variant not provided [RCV003551680] Chr4:47406859 [GRCh38]
Chr4:47408876 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.504T>C (p.Tyr168=) single nucleotide variant not provided [RCV003864163] Chr4:47320169 [GRCh38]
Chr4:47322186 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1084G>A (p.Asp362Asn) single nucleotide variant not provided [RCV003677279] Chr4:47425677 [GRCh38]
Chr4:47427694 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.46C>T (p.Pro16Ser) single nucleotide variant not provided [RCV003709772] Chr4:47031697 [GRCh38]
Chr4:47033714 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.240+8G>A single nucleotide variant not provided [RCV003844088] Chr4:47032492 [GRCh38]
Chr4:47034509 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.73G>T (p.Ala25Ser) single nucleotide variant not provided [RCV003675304] Chr4:47031724 [GRCh38]
Chr4:47033741 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.172+18T>C single nucleotide variant not provided [RCV003710738] Chr4:47032023 [GRCh38]
Chr4:47034040 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1306C>A (p.Leu436Ile) single nucleotide variant not provided [RCV003843240] Chr4:47425899 [GRCh38]
Chr4:47427916 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1239C>T (p.Ala413=) single nucleotide variant not provided [RCV003863454] Chr4:47425832 [GRCh38]
Chr4:47427849 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.461G>A (p.Arg154Gln) single nucleotide variant not provided [RCV003708838] Chr4:47161469 [GRCh38]
Chr4:47163486 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.311T>G (p.Leu104Arg) single nucleotide variant not provided [RCV003734354] Chr4:47161319 [GRCh38]
Chr4:47163336 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.619G>A (p.Glu207Lys) single nucleotide variant not provided [RCV003857641] Chr4:47403392 [GRCh38]
Chr4:47405409 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.462-16C>A single nucleotide variant not provided [RCV003568488] Chr4:47320111 [GRCh38]
Chr4:47322128 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1249G>A (p.Ala417Thr) single nucleotide variant not provided [RCV003819197] Chr4:47425842 [GRCh38]
Chr4:47427859 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.240+18G>T single nucleotide variant not provided [RCV003683709] Chr4:47032502 [GRCh38]
Chr4:47034519 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1182G>T (p.Met394Ile) single nucleotide variant not provided [RCV003685798] Chr4:47425775 [GRCh38]
Chr4:47427792 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1080G>A (p.Gln360=) single nucleotide variant not provided [RCV003685176] Chr4:47406926 [GRCh38]
Chr4:47408943 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.682+6G>T single nucleotide variant not provided [RCV003858882] Chr4:47403461 [GRCh38]
Chr4:47405478 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.20G>A (p.Arg7Gln) single nucleotide variant not provided [RCV003866685] Chr4:47031671 [GRCh38]
Chr4:47033688 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.564C>T (p.Asp188=) single nucleotide variant not provided [RCV003870163] Chr4:47403337 [GRCh38]
Chr4:47405354 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.913G>A (p.Ala305Thr) single nucleotide variant not provided [RCV003683713] Chr4:47406759 [GRCh38]
Chr4:47408776 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.882G>A (p.Arg294=) single nucleotide variant not provided [RCV003722373] Chr4:47406728 [GRCh38]
Chr4:47408745 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.241-17C>T single nucleotide variant not provided [RCV003863004] Chr4:47161232 [GRCh38]
Chr4:47163249 [GRCh37]
Chr4:4p12
benign
NM_000812.4(GABRB1):c.1080+13A>G single nucleotide variant not provided [RCV003685944] Chr4:47406939 [GRCh38]
Chr4:47408956 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1080+9T>C single nucleotide variant not provided [RCV003869506] Chr4:47406935 [GRCh38]
Chr4:47408952 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.712C>T (p.Arg238Cys) single nucleotide variant not provided [RCV003870249] Chr4:47403588 [GRCh38]
Chr4:47405605 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1224G>T (p.Leu408=) single nucleotide variant not provided [RCV003712428] Chr4:47425817 [GRCh38]
Chr4:47427834 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.645C>A (p.Asp215Glu) single nucleotide variant not provided [RCV003565753] Chr4:47403418 [GRCh38]
Chr4:47405435 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.127A>G (p.Arg43Gly) single nucleotide variant not provided [RCV003677805] Chr4:47031960 [GRCh38]
Chr4:47033977 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1276A>C (p.Lys426Gln) single nucleotide variant not provided [RCV003677736] Chr4:47425869 [GRCh38]
Chr4:47427886 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.462-6T>C single nucleotide variant not provided [RCV003682502] Chr4:47320121 [GRCh38]
Chr4:47322138 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.462-7C>T single nucleotide variant not provided [RCV003568668] Chr4:47320120 [GRCh38]
Chr4:47322137 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.835+1G>T single nucleotide variant not provided [RCV003565988] Chr4:47403712 [GRCh38]
Chr4:47405729 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.694C>T (p.Arg232Ter) single nucleotide variant not provided [RCV003682920] Chr4:47403570 [GRCh38]
Chr4:47405587 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1080+1G>A single nucleotide variant not provided [RCV003678217] Chr4:47406927 [GRCh38]
Chr4:47408944 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.637A>G (p.Ile213Val) single nucleotide variant not provided [RCV003728636] Chr4:47403410 [GRCh38]
Chr4:47405427 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.144T>C (p.Tyr48=) single nucleotide variant not provided [RCV003708116] Chr4:47031977 [GRCh38]
Chr4:47033994 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.567T>C (p.Ile189=) single nucleotide variant not provided [RCV003678869] Chr4:47403340 [GRCh38]
Chr4:47405357 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.252C>T (p.Leu84=) single nucleotide variant not provided [RCV003821086] Chr4:47161260 [GRCh38]
Chr4:47163277 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.589G>C (p.Glu197Gln) single nucleotide variant not provided [RCV003678459] Chr4:47403362 [GRCh38]
Chr4:47405379 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.71G>T (p.Cys24Phe) single nucleotide variant not provided [RCV003863232] Chr4:47031722 [GRCh38]
Chr4:47033739 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.682+19A>G single nucleotide variant not provided [RCV003842484] Chr4:47403474 [GRCh38]
Chr4:47405491 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.1389T>G (p.Leu463=) single nucleotide variant GABRB1-related disorder [RCV003904028] Chr4:47425982 [GRCh38]
Chr4:47427999 [GRCh37]
Chr4:4p12
likely benign
GRCh37/hg19 4p12(chr4:47163266-47538581)x3 copy number gain not provided [RCV003885508] Chr4:47163266..47538581 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1399G>T (p.Val467Phe) single nucleotide variant Developmental and epileptic encephalopathy, 45 [RCV004555519] Chr4:47425992 [GRCh38]
Chr4:47428009 [GRCh37]
Chr4:4p12
uncertain significance
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2
pathogenic
NM_000812.4(GABRB1):c.914C>T (p.Ala305Val) single nucleotide variant not provided [RCV003887393]|not specified [RCV004369713] Chr4:47406760 [GRCh38]
Chr4:47408777 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.33G>T (p.Gly11=) single nucleotide variant GABRB1-related disorder [RCV003899050] Chr4:47031684 [GRCh38]
Chr4:47033701 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.249A>G (p.Thr83=) single nucleotide variant not specified [RCV004527137] Chr4:47161257 [GRCh38]
Chr4:47163274 [GRCh37]
Chr4:4p12
likely benign
NM_000812.4(GABRB1):c.27T>A (p.Ser9Arg) single nucleotide variant not specified [RCV004390138] Chr4:47031678 [GRCh38]
Chr4:47033695 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.92C>T (p.Pro31Leu) single nucleotide variant not specified [RCV004390139] Chr4:47031925 [GRCh38]
Chr4:47033942 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.807T>G (p.Tyr269Ter) single nucleotide variant not provided [RCV004590976] Chr4:47403683 [GRCh38]
Chr4:47405700 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.172+53G>A single nucleotide variant not specified [RCV004595467] Chr4:47032058 [GRCh38]
Chr4:47034075 [GRCh37]
Chr4:4p12
benign
NM_000812.4(GABRB1):c.282C>G (p.Asp94Glu) single nucleotide variant not provided [RCV004795050] Chr4:47161290 [GRCh38]
Chr4:47163307 [GRCh37]
Chr4:4p12
uncertain significance
NM_000812.4(GABRB1):c.1324G>A (p.Asp442Asn) single nucleotide variant not provided [RCV004768422] Chr4:47425917 [GRCh38]
Chr4:47427934 [GRCh37]
Chr4:4p12
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:769
Count of miRNA genes:556
Interacting mature miRNAs:619
Transcripts:ENST00000295454, ENST00000381582, ENST00000509366, ENST00000510909, ENST00000513567, ENST00000538619
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597491998GWAS1588072_Heducational attainment QTL GWAS1588072 (human)3e-10educational attainment44699589646995897Human
596964247GWAS1083766_Hmajor depressive disorder QTL GWAS1083766 (human)0.000007major depressive disorder44727853947278540Human
597124369GWAS1220443_Hattention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement QTL GWAS1220443 (human)8e-10attention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement44719797147197972Human
597527445GWAS1623519_Hbone density QTL GWAS1623519 (human)8e-10bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)44702793147027932Human
597255568GWAS1351642_Hheel bone mineral density, urate measurement QTL GWAS1351642 (human)3e-08heel bone mineral density, urate measurementblood uric acid level (CMO:0000501)44707986247079863Human
596965150GWAS1084669_Htotal cholesterol measurement, diet measurement QTL GWAS1084669 (human)0.000005diet measurement, apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)44705880847058809Human
597277714GWAS1373788_Hglycosyl-N-palmitoyl-sphingosine (d18:1/16:0) measurement QTL GWAS1373788 (human)1e-17glycosyl-N-palmitoyl-sphingosine (d18:1/16:0) measurement44741963447419635Human
597321993GWAS1418067_Hsensory peripheral neuropathy, trait in response to platinum QTL GWAS1418067 (human)0.000003sensory peripheral neuropathy, trait in response to platinum44705058947050590Human
597117441GWAS1213515_Hmathematical ability QTL GWAS1213515 (human)4e-08mathematical ability44703496847034969Human
597316355GWAS1412429_Hrisk-taking behaviour QTL GWAS1412429 (human)4e-10risk-taking behaviour44727037547270376Human
597338502GWAS1434576_Hcannabis dependence QTL GWAS1434576 (human)2e-08cannabis dependence44712403647124037Human
597582339GWAS1639199_Hamyloid-beta measurement QTL GWAS1639199 (human)0.000003amyloid-beta measurement44701954947019550Human
597345927GWAS1442001_Hneutrophil measurement QTL GWAS1442001 (human)8e-12neutrophil measurement44741150547411506Human
597154359GWAS1250433_Htotal cholesterol measurement, diet measurement QTL GWAS1250433 (human)0.000006total cholesterol measurement, diet measurementfood intake measurement (CMO:0000772)44705880847058809Human
597023413GWAS1119487_Hresponse to darapladib, Diarrhea QTL GWAS1119487 (human)3e-08response to darapladib, Diarrhea44737165347371654Human
597490234GWAS1586308_Hsmoking initiation QTL GWAS1586308 (human)4e-14smoking initiation44700122847001229Human
597240767GWAS1336841_Hretinal vasculature measurement QTL GWAS1336841 (human)0.0000003retina blood vessel morphology trait (VT:0002792)44737361047373611Human
597275826GWAS1371900_Hbeverage consumption measurement QTL GWAS1371900 (human)7e-09beverage consumption measurementdrink intake measurement (CMO:0000771)44727037547270376Human
597416747GWAS1512821_Hcognitive function measurement QTL GWAS1512821 (human)4e-08cognitive function measurement44700202047002021Human
596964900GWAS1084419_Hdiet measurement, apolipoprotein B measurement QTL GWAS1084419 (human)0.000009diet measurement, apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)44705880847058809Human
597334187GWAS1430261_Hsmoking initiation QTL GWAS1430261 (human)6e-14smoking initiation44728805047288051Human
407071346GWAS720322_Hlongevity QTL GWAS720322 (human)0.000009longevity44741379547413796Human
407027319GWAS676295_Hbody weight QTL GWAS676295 (human)0.000005body mass (VT:0001259)body weight (CMO:0000012)44740669247406693Human
597293742GWAS1389816_Hceramide measurement QTL GWAS1389816 (human)5e-09ceramide measurement44741110447411105Human
597365667GWAS1461741_Hintelligence QTL GWAS1461741 (human)0.000005intelligence44700202047002021Human
597028270GWAS1124344_Hsquamous cell lung carcinoma, family history of lung cancer QTL GWAS1124344 (human)0.000005squamous cell lung carcinoma, family history of lung cancer44727416747274168Human
597263266GWAS1359340_Hserum metabolite measurement QTL GWAS1359340 (human)0.00001serum metabolite measurement44740258347402584Human
597117354GWAS1213428_Hresponse to supplemental oxygen QTL GWAS1213428 (human)0.000008response to supplemental oxygen44739383647393837Human
597153364GWAS1249438_Htotal cholesterol measurement, diet measurement QTL GWAS1249438 (human)0.000005total cholesterol measurement, diet measurementblood apoliprotein B level (CMO:0000522)44705880847058809Human
597476954GWAS1573028_Hpolycystic ovary syndrome QTL GWAS1573028 (human)0.0000002polycystic ovary syndrome44700105947001060Human
597256146GWAS1352220_Hschizophrenia QTL GWAS1352220 (human)0.0000002schizophrenia44721690947216910Human
597154631GWAS1250705_Hdiet measurement, apolipoprotein B measurement QTL GWAS1250705 (human)0.000009diet measurement, apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)44705880847058809Human
597325899GWAS1421973_Hcolor vision disorder QTL GWAS1421973 (human)0.000006color vision disorder44731955047319551Human
597506767GWAS1602841_Hself reported educational attainment QTL GWAS1602841 (human)3e-09self reported educational attainment44699589646995897Human
596965319GWAS1084838_Hdiet measurement, low density lipoprotein cholesterol measurement QTL GWAS1084838 (human)0.000008diet measurement, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)44705880847058809Human
597415494GWAS1511568_Hself reported educational attainment QTL GWAS1511568 (human)5e-08self reported educational attainment44699589646995897Human
596965323GWAS1084842_Htotal cholesterol measurement, diet measurement QTL GWAS1084842 (human)0.000006total cholesterol measurement, diet measurementfood intake measurement (CMO:0000772)44705880847058809Human
407116326GWAS765302_Hrisk-taking behaviour QTL GWAS765302 (human)7e-12risk-taking behaviour44703729847037299Human
597151603GWAS1247677_Hdiet measurement, low density lipoprotein cholesterol measurement QTL GWAS1247677 (human)0.000008diet measurement, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)44705880847058809Human
597106419GWAS1202493_Hamygdala volume change measurement QTL GWAS1202493 (human)0.000006amygdala volume change measurement44706656347066564Human
597060734GWAS1156808_Hreaction time measurement QTL GWAS1156808 (human)0.000003reaction time measurement44726357347263574Human
597040126GWAS1136200_Hrisk-taking behaviour QTL GWAS1136200 (human)4e-08risk-taking behaviour44727037547270376Human
597039228GWAS1135302_Hrisk-taking behaviour QTL GWAS1135302 (human)5e-14risk-taking behaviour44703729847037299Human
597188471GWAS1284545_Hglycosyl-N-palmitoyl-sphingosine (d18:1/16:0) measurement QTL GWAS1284545 (human)3e-13glycosyl-N-palmitoyl-sphingosine (d18:1/16:0) measurement44741110447411105Human
597074786GWAS1170860_Hcervical carcinoma QTL GWAS1170860 (human)0.000001cervical carcinoma44708716747087168Human
597171692GWAS1267766_Hsmoking initiation QTL GWAS1267766 (human)3e-19smoking initiation44728795447287955Human
597171693GWAS1267767_Hsmoking initiation QTL GWAS1267767 (human)3e-19smoking initiation44728805047288051Human
407082555GWAS731531_Hunipolar depression QTL GWAS731531 (human)0.000007unipolar depression44727853947278540Human
597111022GWAS1207096_Hmathematical ability QTL GWAS1207096 (human)1e-09mathematical ability44703752947037530Human
597074159GWAS1170233_Hmajor depressive disorder QTL GWAS1170233 (human)0.000007major depressive disorder44727853947278540Human
597137641GWAS1233715_Hbone density QTL GWAS1233715 (human)2e-25bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)44729948647299487Human

Markers in Region
G33951  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37447,427,471 - 47,427,585UniSTSGRCh37
Build 36447,122,228 - 47,122,342RGDNCBI36
Celera447,876,037 - 47,876,158RGD
Cytogenetic Map4p12UniSTS
HuRef446,746,923 - 46,747,045UniSTS
D4S2781  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37447,046,631 - 47,046,867UniSTSGRCh37
Build 36446,741,388 - 46,741,624RGDNCBI36
Cytogenetic Map4p12UniSTS
HuRef446,366,088 - 46,366,324UniSTS
Whitehead-RH Map4261.4UniSTS
Whitehead-YAC Contig Map4 UniSTS
NCBI RH Map4536.9UniSTS
SHGC4-68  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37447,427,460 - 47,427,605UniSTSGRCh37
Build 36447,122,217 - 47,122,362RGDNCBI36
Celera447,876,026 - 47,876,178RGD
Cytogenetic Map4p12UniSTS
HuRef446,746,912 - 46,747,065UniSTS
G63030  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37447,137,408 - 47,137,722UniSTSGRCh37
Build 36446,832,165 - 46,832,479RGDNCBI36
Celera447,586,016 - 47,586,330RGD
Cytogenetic Map4p12UniSTS
HuRef446,456,798 - 46,457,112UniSTS
G63235  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37447,404,345 - 47,404,617UniSTSGRCh37
Build 36447,099,102 - 47,099,374RGDNCBI36
Celera447,852,917 - 47,853,189RGD
Cytogenetic Map4p12UniSTS
HuRef446,723,801 - 46,724,073UniSTS
SHGC-111368  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37447,050,926 - 47,051,202UniSTSGRCh37
Build 36446,745,683 - 46,745,959RGDNCBI36
Celera447,499,771 - 47,500,046RGD
Cytogenetic Map4p12UniSTS
HuRef446,370,379 - 46,370,655UniSTS
SHGC-33334  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37447,133,111 - 47,133,260UniSTSGRCh37
Build 36446,827,868 - 46,828,017RGDNCBI36
Celera447,581,729 - 47,581,878RGD
Cytogenetic Map4p12UniSTS
HuRef446,452,511 - 46,452,660UniSTS
SHGC-59554  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37447,426,461 - 47,426,714UniSTSGRCh37
GRCh37131,300,743 - 31,301,169UniSTSGRCh37
Build 36131,073,330 - 31,073,756RGDNCBI36
Celera129,556,421 - 29,556,847RGD
Celera447,875,027 - 47,875,280UniSTS
Cytogenetic Map4p12UniSTS
HuRef446,745,913 - 46,746,166UniSTS
GeneMap99-GB4 RH Map4246.52UniSTS
WI-19172  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37447,428,133 - 47,428,424UniSTSGRCh37
Build 36447,122,890 - 47,123,181RGDNCBI36
Celera447,876,706 - 47,876,997RGD
Cytogenetic Map4p12UniSTS
HuRef446,747,593 - 46,747,884UniSTS
Whitehead-RH Map4258.6UniSTS
D4S2534E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37447,046,700 - 47,046,809UniSTSGRCh37
Build 36446,741,457 - 46,741,566RGDNCBI36
Cytogenetic Map4p12UniSTS
HuRef446,366,157 - 46,366,266UniSTS
Stanford-G3 RH Map42856.0UniSTS
GeneMap99-G3 RH Map42840.0UniSTS
SHGC-67259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37447,428,030 - 47,428,266UniSTSGRCh37
Build 36447,122,787 - 47,123,023RGDNCBI36
Celera447,876,603 - 47,876,839RGD
Cytogenetic Map4p12UniSTS
HuRef446,747,490 - 46,747,726UniSTS
GeneMap99-GB4 RH Map4247.74UniSTS
M59215  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37447,034,122 - 47,034,213UniSTSGRCh37
Build 36446,728,879 - 46,728,970RGDNCBI36
Celera447,483,370 - 47,483,463RGD
Cytogenetic Map4p12UniSTS
HuRef446,353,578 - 46,353,671UniSTS
SHGC4-879  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37447,034,109 - 47,034,354UniSTSGRCh37
Build 36446,728,866 - 46,729,111RGDNCBI36
Celera447,483,357 - 47,483,604RGD
Cytogenetic Map4p12UniSTS
HuRef446,353,565 - 46,353,812UniSTS
GeneMap99-G3 RH Map42840.0UniSTS
D4S2867  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37447,386,777 - 47,386,952UniSTSGRCh37
Build 36447,081,534 - 47,081,709RGDNCBI36
Celera447,835,344 - 47,835,519RGD
Cytogenetic Map4p12UniSTS
HuRef446,706,266 - 46,706,441UniSTS
Whitehead-YAC Contig Map4 UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
700 1553 1599 2095 3976 964 947 4 242 596 107 1233 4027 3757 31 3508 384 1121 762 140

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC097712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC105394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC116638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF285168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH001466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC352362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ535054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S70733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X14767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000295454   ⟹   ENSP00000295454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl447,031,567 - 47,426,447 (+)Ensembl
Ensembl Acc Id: ENST00000381582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl447,031,581 - 47,033,013 (+)Ensembl
Ensembl Acc Id: ENST00000509366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl447,031,551 - 47,043,345 (+)Ensembl
Ensembl Acc Id: ENST00000510909   ⟹   ENSP00000426766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl447,031,633 - 47,403,385 (+)Ensembl
Ensembl Acc Id: ENST00000513567   ⟹   ENSP00000426753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl446,993,723 - 47,161,460 (+)Ensembl
RefSeq Acc Id: NM_000812   ⟹   NP_000803
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38447,031,567 - 47,426,447 (+)NCBI
GRCh37447,033,295 - 47,432,801 (+)NCBI
Build 36446,728,336 - 47,123,202 (+)NCBI Archive
HuRef446,352,751 - 46,747,922 (+)ENTREZGENE
CHM1_1447,032,490 - 47,427,496 (+)NCBI
T2T-CHM13v2.0446,998,964 - 47,393,806 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007985   ⟹   XP_016863474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38447,399,595 - 47,426,447 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007986   ⟹   XP_016863475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38447,031,567 - 47,173,164 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453976   ⟹   XP_024309744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38446,993,647 - 47,426,447 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453977   ⟹   XP_024309745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38446,993,647 - 47,426,447 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054349558   ⟹   XP_054205533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0447,366,945 - 47,393,806 (+)NCBI
RefSeq Acc Id: NP_000803   ⟸   NM_000812
- Peptide Label: precursor
- UniProtKB: Q16166 (UniProtKB/Swiss-Prot),   D6REL3 (UniProtKB/Swiss-Prot),   B2R6U7 (UniProtKB/Swiss-Prot),   Q8TBK3 (UniProtKB/Swiss-Prot),   P18505 (UniProtKB/Swiss-Prot),   X5DNL6 (UniProtKB/TrEMBL),   B4DEL7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016863475   ⟸   XM_017007986
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016863474   ⟸   XM_017007985
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024309745   ⟸   XM_024453977
- Peptide Label: isoform X2
- UniProtKB: B4DEL7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024309744   ⟸   XM_024453976
- Peptide Label: isoform X2
- UniProtKB: B4DEL7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000295454   ⟸   ENST00000295454
Ensembl Acc Id: ENSP00000426766   ⟸   ENST00000510909
Ensembl Acc Id: ENSP00000426753   ⟸   ENST00000513567
RefSeq Acc Id: XP_054205533   ⟸   XM_054349558
- Peptide Label: isoform X1
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P18505-F1-model_v2 AlphaFold P18505 1-474 view protein structure

Promoters
RGD ID:6812510
Promoter ID:HG_ACW:59116
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:GABRB1.FAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36446,729,241 - 46,729,741 (+)MPROMDB
RGD ID:6867344
Promoter ID:EPDNEW_H6837
Type:initiation region
Name:GABRB1_2
Description:gamma-aminobutyric acid type A receptor beta1 subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6838  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38447,031,345 - 47,031,405EPDNEW
RGD ID:6867346
Promoter ID:EPDNEW_H6838
Type:initiation region
Name:GABRB1_1
Description:gamma-aminobutyric acid type A receptor beta1 subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6837  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38447,031,575 - 47,031,635EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4081 AgrOrtholog
COSMIC GABRB1 COSMIC
Ensembl Genes ENSG00000163288 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000295454 ENTREZGENE
  ENST00000295454.8 UniProtKB/Swiss-Prot
  ENST00000510909.1 UniProtKB/Swiss-Prot
  ENST00000513567.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.58.390 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.70.170.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000163288 GTEx
HGNC ID HGNC:4081 ENTREZGENE
Human Proteome Map GABRB1 Human Proteome Map
InterPro GABAA/Glycine_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GABAAb_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_chan_lig-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_chan_lig-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neuro-gated_channel_TM_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neuro_actylchol_rec UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neurotrans-gated_channel_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neurotransmitter_ion_chnl_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2560 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2560 ENTREZGENE
OMIM 137190 OMIM
PANTHER GAMMA-AMINOBUTYRIC ACID RECEPTOR SUBUNIT BETA-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR18945 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Neur_chan_LBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_chan_memb UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28495 PharmGKB
PRINTS GABAARBETA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GABAARECEPTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NRIONCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NEUROTR_ION_CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF63712 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF90112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R6U7 ENTREZGENE
  B4DEL7 ENTREZGENE, UniProtKB/TrEMBL
  D6REL3 ENTREZGENE
  D6REM0_HUMAN UniProtKB/TrEMBL
  GBRB1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q16166 ENTREZGENE
  Q8TBK3 ENTREZGENE
  X5DNL6 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B2R6U7 UniProtKB/Swiss-Prot
  D6REL3 UniProtKB/Swiss-Prot
  Q16166 UniProtKB/Swiss-Prot
  Q8TBK3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-12-03 GABRB1  gamma-aminobutyric acid type A receptor subunit beta1  GABRB1  gamma-aminobutyric acid type A receptor beta1 subunit  Symbol and/or name change 5135510 APPROVED
2016-02-10 GABRB1  gamma-aminobutyric acid type A receptor beta1 subunit  GABRB1  gamma-aminobutyric acid (GABA) A receptor, beta 1  Symbol and/or name change 5135510 APPROVED