SLC6A13 (solute carrier family 6 member 13) - Rat Genome Database

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Gene: SLC6A13 (solute carrier family 6 member 13) Homo sapiens
Analyze
Symbol: SLC6A13
Name: solute carrier family 6 member 13
RGD ID: 733725
HGNC Page HGNC:11046
Description: Enables gamma-aminobutyric acid:sodium:chloride symporter activity. Involved in amino acid import across plasma membrane and monocarboxylic acid transport. Located in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: GABA transport protein; GABA transporter 2; GAT-2; GAT2; GAT3; sodium- and chloride-dependent GABA transporter 2; solute carrier family 6 (neurotransmitter transporter), member 13; solute carrier family 6 (neurotransmitter transporter, GABA), member 13
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
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
GRCh3812220,622 - 262,836 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12220,621 - 262,873 (-)EnsemblGRCh38hg38GRCh38
GRCh3712329,788 - 372,002 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612200,052 - 242,263 (-)NCBINCBI36Build 36hg18NCBI36
Build 3412200,051 - 242,263NCBI
Celera121,938,637 - 1,980,875 (-)NCBICelera
Cytogenetic Map12p13.33NCBI
HuRef12182,903 - 225,079 (-)NCBIHuRef
CHM1_112328,777 - 371,038 (-)NCBICHM1_1
T2T-CHM13v2.012217,551 - 259,667 (-)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
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-palmitoylglycerol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
alachlor  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
calcium silicate  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
clofibric acid  (ISO)
coumarin  (ISO)
crocidolite asbestos  (ISO)
dioxygen  (ISO)
diquat  (ISO)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethyl methanesulfonate  (EXP)
flavonoids  (ISO)
fluconazole  (ISO)
flutamide  (ISO)
folic acid  (ISO)
furan  (ISO)
gamma-aminobutyric acid  (EXP)
graphite  (ISO)
GW 4064  (ISO)
hydralazine  (EXP)
icariin  (ISO)
leflunomide  (ISO)
Licochalcone B  (EXP)
lipopolysaccharide  (EXP)
methamphetamine  (ISO)
methidathion  (ISO)
methyl methanesulfonate  (EXP)
Muraglitazar  (ISO)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nitrofen  (ISO)
O-methyleugenol  (EXP)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
resveratrol  (EXP)
rotenone  (EXP,ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SCH 23390  (ISO)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP)
succimer  (ISO)
Tesaglitazar  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
Theaflavin 3,3'-digallate  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
toluene  (ISO)
tremolite asbestos  (ISO)
triadimefon  (ISO)
triclosan  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1400419   PMID:8889548   PMID:11824941   PMID:12477932   PMID:15252450   PMID:16125675   PMID:16344560   PMID:17502375   PMID:19056867   PMID:19086053   PMID:19450549   PMID:19874574  
PMID:19913121   PMID:20379614   PMID:20383146   PMID:20398908   PMID:20424473   PMID:20628086   PMID:21873635   PMID:22932902   PMID:23275563   PMID:23378610   PMID:24625756   PMID:24816252  
PMID:24842606   PMID:25824654   PMID:26194112   PMID:29175673   PMID:30280653   PMID:31391242   PMID:32814053   PMID:38780447  


Genomics

Comparative Map Data
SLC6A13
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812220,622 - 262,836 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12220,621 - 262,873 (-)EnsemblGRCh38hg38GRCh38
GRCh3712329,788 - 372,002 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612200,052 - 242,263 (-)NCBINCBI36Build 36hg18NCBI36
Build 3412200,051 - 242,263NCBI
Celera121,938,637 - 1,980,875 (-)NCBICelera
Cytogenetic Map12p13.33NCBI
HuRef12182,903 - 225,079 (-)NCBIHuRef
CHM1_112328,777 - 371,038 (-)NCBICHM1_1
T2T-CHM13v2.012217,551 - 259,667 (-)NCBIT2T-CHM13v2.0
Slc6a13
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396121,277,247 - 121,314,680 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6121,277,186 - 121,314,692 (+)EnsemblGRCm39 Ensembl
GRCm386121,300,288 - 121,337,721 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6121,300,227 - 121,337,733 (+)EnsemblGRCm38mm10GRCm38
MGSCv376121,250,314 - 121,287,736 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366121,265,915 - 121,303,337 (+)NCBIMGSCv36mm8
Celera6123,134,593 - 123,173,892 (+)NCBICelera
Cytogenetic Map6F1NCBI
cM Map657.22NCBI
Slc6a13
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84156,211,381 - 156,248,491 (+)NCBIGRCr8
mRatBN7.24154,539,246 - 154,577,784 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4154,540,468 - 154,576,152 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4160,806,682 - 160,842,331 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04156,590,166 - 156,625,811 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04155,213,564 - 155,249,248 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04153,874,942 - 153,912,185 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4153,874,852 - 153,912,155 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04220,962,968 - 221,000,197 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44157,736,264 - 157,771,945 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14157,981,199 - 158,016,881 (+)NCBI
Celera4143,379,280 - 143,414,859 (+)NCBICelera
Cytogenetic Map4q42NCBI
Slc6a13
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554546,866,740 - 6,940,734 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554546,866,740 - 6,940,686 (+)NCBIChiLan1.0ChiLan1.0
SLC6A13
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2105,705,028 - 5,756,691 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1125,701,785 - 5,761,918 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v012279,434 - 334,226 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.112255,141 - 296,926 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12255,141 - 296,926 (-)Ensemblpanpan1.1panPan2
SLC6A13
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12742,302,762 - 42,338,911 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2742,270,448 - 42,336,464 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha274,345,500 - 4,381,643 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02742,660,870 - 42,697,019 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2742,660,893 - 42,694,550 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12742,601,961 - 42,637,965 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02742,573,532 - 42,609,397 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0273,705,273 - 3,741,637 (+)NCBIUU_Cfam_GSD_1.0
Slc6a13
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945108,728,385 - 108,767,931 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936606415,177 - 455,721 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936606416,170 - 455,720 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC6A13
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl567,577,197 - 67,614,054 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1567,574,149 - 67,617,513 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2569,865,018 - 69,905,417 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC6A13
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111223,912 - 274,499 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl11223,793 - 264,719 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660638,072,317 - 8,116,503 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in SLC6A13
66 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.33-13.32(chr12:121255-3968447)x1 copy number loss See cases [RCV000050637] Chr12:121255..3968447 [GRCh38]
Chr12:282465..4077613 [GRCh37]
Chr12:100682..3947874 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22		 pathogenic
GRCh38/hg38 12p13.33(chr12:99592-1786491)x1 copy number loss See cases [RCV000052745] Chr12:99592..1786491 [GRCh38]
Chr12:282465..1895657 [GRCh37]
Chr12:79019..1765918 [NCBI36]
Chr12:12p13.33		 pathogenic
GRCh38/hg38 12p13.33(chr12:77187-356623)x1 copy number loss See cases [RCV000053276] Chr12:77187..356623 [GRCh38]
Chr12:282465..465789 [GRCh37]
Chr12:56614..336050 [NCBI36]
Chr12:12p13.33		 uncertain significance
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121055-7272606)x3 copy number gain See cases [RCV000053663] Chr12:121055..7272606 [GRCh38]
Chr12:282465..7425202 [GRCh37]
Chr12:100482..7316469 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|See cases [RCV000053664] Chr12:121255..8361746 [GRCh38]
Chr12:282465..8514342 [GRCh37]
Chr12:100682..8405609 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:199896-3284963)x3 copy number gain See cases [RCV000053665] Chr12:199896..3284963 [GRCh38]
Chr12:309062..3394129 [GRCh37]
Chr12:179323..3264390 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33(chr12:121255-260026)x3 copy number gain See cases [RCV000133862] Chr12:121255..260026 [GRCh38]
Chr12:282465..369192 [GRCh37]
Chr12:100682..239453 [NCBI36]
Chr12:12p13.33		 benign
GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3 copy number gain See cases [RCV000135350] Chr12:45740..6945196 [GRCh38]
Chr12:147099..7054359 [GRCh37]
Chr12:17360..6924620 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33(chr12:54452-2558097)x1 copy number loss See cases [RCV000136313] Chr12:54452..2558097 [GRCh38]
Chr12:282465..2667263 [GRCh37]
Chr12:33879..2537524 [NCBI36]
Chr12:12p13.33		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1 copy number loss See cases [RCV000136848] Chr12:199896..5807366 [GRCh38]
Chr12:309062..5916532 [GRCh37]
Chr12:179323..5786793 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33(chr12:80412-2850599)x1 copy number loss See cases [RCV000137693] Chr12:80412..2850599 [GRCh38]
Chr12:282465..2959765 [GRCh37]
Chr12:59839..2830026 [NCBI36]
Chr12:12p13.33		 pathogenic|uncertain significance
GRCh38/hg38 12p13.33(chr12:54427-936828)x1 copy number loss See cases [RCV000138189] Chr12:54427..936828 [GRCh38]
Chr12:282465..1045994 [GRCh37]
Chr12:33854..916255 [NCBI36]
Chr12:12p13.33		 uncertain significance
GRCh38/hg38 12p13.33-13.32(chr12:80412-4420585)x1 copy number loss See cases [RCV000138558] Chr12:80412..4420585 [GRCh38]
Chr12:282465..4529751 [GRCh37]
Chr12:59839..4400012 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:54427-3639603)x1 copy number loss See cases [RCV000141250] Chr12:54427..3639603 [GRCh38]
Chr12:282465..3748769 [GRCh37]
Chr12:33854..3619030 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:54427-4004912)x1 copy number loss See cases [RCV000140991] Chr12:54427..4004912 [GRCh38]
Chr12:282465..4114078 [GRCh37]
Chr12:33854..3984339 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33(chr12:121255-3003320)x1 copy number loss See cases [RCV000142595] Chr12:121255..3003320 [GRCh38]
Chr12:282465..3112486 [GRCh37]
Chr12:100682..2982747 [NCBI36]
Chr12:12p13.33		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:222888-3931052)x1 copy number loss See cases [RCV000239873] Chr12:222888..3931052 [GRCh37]
Chr12:12p13.33-13.32		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33(chr12:310521-864216)x3 copy number gain See cases [RCV000446847] Chr12:310521..864216 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173786-6378954)x1 copy number loss See cases [RCV000447106] Chr12:173786..6378954 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-5737510)x1 copy number loss See cases [RCV000446628] Chr12:173786..5737510 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8257049)x3 copy number gain See cases [RCV000446749] Chr12:173786..8257049 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33(chr12:173786-2865649)x1 copy number loss See cases [RCV000447876] Chr12:173786..2865649 [GRCh37]
Chr12:12p13.33		 pathogenic
GRCh37/hg19 12p13.33(chr12:173786-390463)x1 copy number loss See cases [RCV000447695] Chr12:173786..390463 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33(chr12:173786-2108237)x3 copy number gain See cases [RCV000510561] Chr12:173786..2108237 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3 copy number gain See cases [RCV000510853] Chr12:173786..11677456 [GRCh37]
Chr12:12p13.33-13.2		 pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22		 pathogenic
GRCh37/hg19 12p13.33(chr12:347923-898224)x1 copy number loss See cases [RCV000511006] Chr12:347923..898224 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.1671G>T (p.Lys557Asn) single nucleotide variant not specified [RCV004318766] Chr12:221391 [GRCh38]
Chr12:330557 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.1285C>A (p.Leu429Ile) single nucleotide variant not specified [RCV004318567] Chr12:224018 [GRCh38]
Chr12:333184 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.1424G>A (p.Arg475His) single nucleotide variant not provided [RCV000661968] Chr12:222623 [GRCh38]
Chr12:331789 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.829C>G (p.Gln277Glu) single nucleotide variant not provided [RCV000660568]|not specified [RCV004026056] Chr12:235092 [GRCh38]
Chr12:344258 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33(chr12:173786-2793493)x1 copy number loss not provided [RCV000683468] Chr12:173786..2793493 [GRCh37]
Chr12:12p13.33		 pathogenic
GRCh37/hg19 12p13.33(chr12:206798-783484)x3 copy number gain not provided [RCV000683442] Chr12:206798..783484 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33(chr12:310521-1550563)x1 copy number loss not provided [RCV000683461] Chr12:310521..1550563 [GRCh37]
Chr12:12p13.33		 likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33(chr12:173786-425502)x3 copy number gain not provided [RCV000683409] Chr12:173786..425502 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3 copy number gain not provided [RCV000683477] Chr12:191242..8122785 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:173786-4105910)x1 copy number loss not provided [RCV000683471] Chr12:173786..4105910 [GRCh37]
Chr12:12p13.33-13.32		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6201932)x1 copy number loss not provided [RCV000683476] Chr12:173786..6201932 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1 copy number loss not provided [RCV000683474] Chr12:173786..5952112 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)x1 copy number loss not provided [RCV000683475] Chr12:173786..6039841 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21		 pathogenic
NM_016615.5(SLC6A13):c.1038C>G (p.Pro346=) single nucleotide variant not provided [RCV000906013] Chr12:226412 [GRCh38]
Chr12:335578 [GRCh37]
Chr12:12p13.33		 benign
NM_016615.5(SLC6A13):c.1686+7C>T single nucleotide variant not provided [RCV000906807] Chr12:221369 [GRCh38]
Chr12:330535 [GRCh37]
Chr12:12p13.33		 benign
NM_016615.5(SLC6A13):c.1244G>A (p.Arg415Gln) single nucleotide variant not provided [RCV000969801] Chr12:224059 [GRCh38]
Chr12:333225 [GRCh37]
Chr12:12p13.33		 benign
NM_016615.5(SLC6A13):c.1221T>C (p.Pro407=) single nucleotide variant not provided [RCV000969802] Chr12:224082 [GRCh38]
Chr12:333248 [GRCh37]
Chr12:12p13.33		 benign
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497) copy number gain not provided [RCV000767819] Chr12:189216..8185497 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_016615.5(SLC6A13):c.1374C>T (p.Phe458=) single nucleotide variant not provided [RCV000893945] Chr12:223172 [GRCh38]
Chr12:332338 [GRCh37]
Chr12:12p13.33		 benign
NC_000012.12:g.(1_3750000)_(5250000_9000000)del deletion Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697] Chr12:3750000..5250000 [GRCh38]
Chr12:12p13.33-13.31		 pathogenic|not provided
GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292) copy number gain not provided [RCV000767818] Chr12:237588..8278292 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33(chr12:328575-664046)x1 copy number loss not provided [RCV000848042] Chr12:328575..664046 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6346092)x1 copy number loss not provided [RCV000847821] Chr12:173786..6346092 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33(chr12:332661-783484)x3 copy number gain not provided [RCV001006471] Chr12:332661..783484 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33(chr12:305296-464652)x3 copy number gain not provided [RCV000849372] Chr12:305296..464652 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33(chr12:274676-690148)x3 copy number gain not provided [RCV000848483] Chr12:274676..690148 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33(chr12:239786-332382)x1 copy number loss not provided [RCV001006469] Chr12:239786..332382 [GRCh37]
Chr12:12p13.33		 likely benign
GRCh37/hg19 12p13.33(chr12:173786-825782)x1 copy number loss not provided [RCV001006468] Chr12:173786..825782 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3 copy number gain not provided [RCV000846343] Chr12:173786..8393815 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_016615.5(SLC6A13):c.547G>C (p.Val183Leu) single nucleotide variant not specified [RCV004284220] Chr12:237942 [GRCh38]
Chr12:347108 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.1157T>C (p.Leu386Pro) single nucleotide variant not specified [RCV004288095] Chr12:224417 [GRCh38]
Chr12:333583 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.1224C>T (p.His408=) single nucleotide variant not provided [RCV000962235] Chr12:224079 [GRCh38]
Chr12:333245 [GRCh37]
Chr12:12p13.33		 benign
GRCh37/hg19 12p13.33(chr12:261086-586662)x3 copy number gain not provided [RCV002473876] Chr12:261086..586662 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33(chr12:305601-543834)x3 copy number gain not provided [RCV001259131] Chr12:305601..543834 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33-13.32(chr12:191242-4683495)x1 copy number loss not provided [RCV001259134] Chr12:191242..4683495 [GRCh37]
Chr12:12p13.33-13.32		 pathogenic
NM_016615.5(SLC6A13):c.100C>A (p.His34Asn) single nucleotide variant not specified [RCV004683835] Chr12:259953 [GRCh38]
Chr12:369119 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3 copy number gain not provided [RCV001537906] Chr12:189145..7730395 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3 copy number gain Obesity [RCV001801197] Chr12:146240..8330229 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33(chr12:310521-864216) copy number gain not specified [RCV002052960] Chr12:310521..864216 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.203G>A (p.Gly68Asp) single nucleotide variant not specified [RCV004683836] Chr12:243813 [GRCh38]
Chr12:352979 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.1142T>G (p.Phe381Cys) single nucleotide variant not specified [RCV004319458] Chr12:224432 [GRCh38]
Chr12:333598 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33(chr12:310522-632400)x3 copy number gain not provided [RCV002473751] Chr12:310522..632400 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.725A>G (p.Tyr242Cys) single nucleotide variant not specified [RCV004200244] Chr12:235196 [GRCh38]
Chr12:344362 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3 copy number gain not provided [RCV002472514] Chr12:173787..8320544 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_016615.5(SLC6A13):c.862T>C (p.Phe288Leu) single nucleotide variant not specified [RCV004154068] Chr12:227638 [GRCh38]
Chr12:336804 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.929G>A (p.Cys310Tyr) single nucleotide variant not specified [RCV004228984] Chr12:227571 [GRCh38]
Chr12:336737 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.1693C>T (p.Arg565Cys) single nucleotide variant not specified [RCV004239294] Chr12:221064 [GRCh38]
Chr12:330230 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.746T>C (p.Leu249Ser) single nucleotide variant not specified [RCV004084923] Chr12:235175 [GRCh38]
Chr12:344341 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.364G>A (p.Val122Ile) single nucleotide variant not specified [RCV004141237] Chr12:242728 [GRCh38]
Chr12:351894 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.533A>G (p.Asn178Ser) single nucleotide variant not specified [RCV004234999] Chr12:237956 [GRCh38]
Chr12:347122 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.1409T>C (p.Val470Ala) single nucleotide variant not specified [RCV004205388] Chr12:223137 [GRCh38]
Chr12:332303 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.1090C>T (p.Arg364Trp) single nucleotide variant not specified [RCV004186980] Chr12:224484 [GRCh38]
Chr12:333650 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.341T>C (p.Ile114Thr) single nucleotide variant not specified [RCV004158434] Chr12:242751 [GRCh38]
Chr12:351917 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.1481A>C (p.Tyr494Ser) single nucleotide variant not specified [RCV004169839] Chr12:222566 [GRCh38]
Chr12:331732 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.614G>A (p.Arg205His) single nucleotide variant not specified [RCV004081689] Chr12:237240 [GRCh38]
Chr12:346406 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.226G>A (p.Val76Ile) single nucleotide variant not specified [RCV004075427] Chr12:243790 [GRCh38]
Chr12:352956 [GRCh37]
Chr12:12p13.33		 likely benign
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_016615.5(SLC6A13):c.859T>C (p.Phe287Leu) single nucleotide variant not specified [RCV004285316] Chr12:227641 [GRCh38]
Chr12:336807 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.1729C>T (p.Arg577Trp) single nucleotide variant not specified [RCV004253006] Chr12:221028 [GRCh38]
Chr12:330194 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.340A>G (p.Ile114Val) single nucleotide variant not specified [RCV004264130] Chr12:242752 [GRCh38]
Chr12:351918 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.1580C>T (p.Pro527Leu) single nucleotide variant not specified [RCV004251295] Chr12:221482 [GRCh38]
Chr12:330648 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33(chr12:336731-674567)x3 copy number gain not provided [RCV003334154] Chr12:336731..674567 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.253G>A (p.Val85Ile) single nucleotide variant not specified [RCV004361488] Chr12:243763 [GRCh38]
Chr12:352929 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.1149C>T (p.Val383=) single nucleotide variant not provided [RCV003396101] Chr12:224425 [GRCh38]
Chr12:333591 [GRCh37]
Chr12:12p13.33		 likely benign
NM_016615.5(SLC6A13):c.1387G>A (p.Glu463Lys) single nucleotide variant not specified [RCV004335143] Chr12:223159 [GRCh38]
Chr12:332325 [GRCh37]
Chr12:12p13.33		 uncertain significance
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33(chr12:173787-2431561)x1 copy number loss not provided [RCV003483145] Chr12:173787..2431561 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1 copy number loss not provided [RCV003483146] Chr12:191243..5332596 [GRCh37]
Chr12:12p13.33-13.32		 pathogenic
GRCh37/hg19 12p13.33(chr12:332362-1590974)x3 copy number gain not provided [RCV003484859] Chr12:332362..1590974 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33(chr12:173787-385411)x3 copy number gain not provided [RCV003484858] Chr12:173787..385411 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33(chr12:332362-534957)x1 copy number loss not provided [RCV003483147] Chr12:332362..534957 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.871G>A (p.Ala291Thr) single nucleotide variant not provided [RCV003491520] Chr12:227629 [GRCh38]
Chr12:336795 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 copy number gain not specified [RCV003986979] Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33(chr12:248855-464636)x3 copy number gain not specified [RCV003986996] Chr12:248855..464636 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33(chr12:247433-461490)x1 copy number loss not provided [RCV003885453] Chr12:247433..461490 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.563+1G>A single nucleotide variant not provided [RCV003990630] Chr12:237925 [GRCh38]
Chr12:347091 [GRCh37]
Chr12:12p13.33		 likely pathogenic
NM_016615.5(SLC6A13):c.1180T>C (p.Cys394Arg) single nucleotide variant not specified [RCV004464223] Chr12:224123 [GRCh38]
Chr12:333289 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.1386C>A (p.Phe462Leu) single nucleotide variant not specified [RCV004464226] Chr12:223160 [GRCh38]
Chr12:332326 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.967G>A (p.Gly323Ser) single nucleotide variant not specified [RCV004464231] Chr12:226483 [GRCh38]
Chr12:335649 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.812C>T (p.Thr271Met) single nucleotide variant not specified [RCV004464229] Chr12:235109 [GRCh38]
Chr12:344275 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.1268T>C (p.Val423Ala) single nucleotide variant not specified [RCV004464224] Chr12:224035 [GRCh38]
Chr12:333201 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.392T>C (p.Ile131Thr) single nucleotide variant not specified [RCV004464228] Chr12:242700 [GRCh38]
Chr12:351866 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.940T>C (p.Cys314Arg) single nucleotide variant not specified [RCV004464230] Chr12:226510 [GRCh38]
Chr12:335676 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.1315G>A (p.Gly439Arg) single nucleotide variant not specified [RCV004464225] Chr12:223231 [GRCh38]
Chr12:332397 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.1615C>G (p.Leu539Val) single nucleotide variant not specified [RCV004464227] Chr12:221447 [GRCh38]
Chr12:330613 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.1748C>G (p.Ser583Trp) single nucleotide variant not specified [RCV004674954] Chr12:221009 [GRCh38]
Chr12:330175 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.814C>T (p.Arg272Cys) single nucleotide variant not specified [RCV004674955] Chr12:235107 [GRCh38]
Chr12:344273 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_016615.5(SLC6A13):c.1744C>A (p.Pro582Thr) single nucleotide variant not specified [RCV004342007] Chr12:221013 [GRCh38]
Chr12:330179 [GRCh37]
Chr12:12p13.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3257
Count of miRNA genes:1040
Interacting mature miRNAs:1283
Transcripts:ENST00000343164, ENST00000436453, ENST00000445055, ENST00000534887, ENST00000536842, ENST00000539260, ENST00000539668, ENST00000542272, ENST00000542379, ENST00000542947, ENST00000543722, ENST00000546319
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
407052291GWAS701267_Hbeta-aminoisobutyric acid measurement QTL GWAS701267 (human)2e-12beta-aminoisobutyric acid measurement12242301242302Human
406983347GWAS632323_HBMI-adjusted waist circumference QTL GWAS632323 (human)7e-09BMI-adjusted waist circumference12240132240133Human
406944531GWAS593507_Hurinary metabolite measurement QTL GWAS593507 (human)3e-12urinary metabolite measurement12242301242302Human
407022085GWAS671061_Hcreatinine measurement, chronic kidney disease QTL GWAS671061 (human)1e-09creatinine measurement, chronic kidney diseaseblood creatinine measurement (CMO:0000767)12240132240133Human

Markers in Region
D12S1256  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712349,692 - 349,818UniSTSGRCh37
Build 3612219,953 - 220,079RGDNCBI36
Celera121,958,531 - 1,958,657RGD
Cytogenetic Map12p13.3UniSTS
HuRef12202,732 - 202,858UniSTS
Whitehead-RH Map1230.3UniSTS
NCBI RH Map1210.0UniSTS
RH93085  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712329,812 - 329,988UniSTSGRCh37
Build 3612200,073 - 200,249RGDNCBI36
Celera121,938,660 - 1,938,836RGD
Cytogenetic Map12p13.3UniSTS
HuRef12182,928 - 183,104UniSTS
GeneMap99-GB4 RH Map1214.49UniSTS
PMC311068P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712330,010 - 330,327UniSTSGRCh37
Build 3612200,271 - 200,588RGDNCBI36
Celera121,938,858 - 1,939,175RGD
Cytogenetic Map12p13.3UniSTS
HuRef12183,126 - 183,443UniSTS
WI-17955  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712370,310 - 370,441UniSTSGRCh37
Build 3612240,571 - 240,702RGDNCBI36
Celera121,979,147 - 1,979,278RGD
Cytogenetic Map12p13.3UniSTS
HuRef12223,351 - 223,482UniSTS
GeneMap99-GB4 RH Map1214.49UniSTS
Whitehead-RH Map1230.3UniSTS
NCBI RH Map1210.0UniSTS
D12S2046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712368,944 - 369,220UniSTSGRCh37
Build 3612239,205 - 239,481RGDNCBI36
Celera121,977,781 - 1,978,057RGD
Cytogenetic Map12p13.3UniSTS
HuRef12221,985 - 222,261UniSTS


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
visual system
1139 2198 2683 2183 4702 1712 2233 2 600 1594 455 1984 6690 5920 39 3701 783 1643 1516 156 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001190997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC007406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF462445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI802118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM662288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA374290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB540466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ786244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U76343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000343164   ⟹   ENSP00000339260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12220,622 - 262,836 (-)Ensembl
Ensembl Acc Id: ENST00000436453   ⟹   ENSP00000389316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12259,005 - 262,836 (-)Ensembl
Ensembl Acc Id: ENST00000445055   ⟹   ENSP00000407104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12220,621 - 262,873 (-)Ensembl
Ensembl Acc Id: ENST00000534887
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12237,150 - 238,309 (-)Ensembl
Ensembl Acc Id: ENST00000536842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12236,906 - 262,836 (-)Ensembl
Ensembl Acc Id: ENST00000539260   ⟹   ENSP00000437386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12237,926 - 262,816 (-)Ensembl
Ensembl Acc Id: ENST00000539668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12222,580 - 224,431 (-)Ensembl
Ensembl Acc Id: ENST00000542272   ⟹   ENSP00000443466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12237,948 - 262,836 (-)Ensembl
Ensembl Acc Id: ENST00000542379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12223,114 - 237,241 (-)Ensembl
Ensembl Acc Id: ENST00000542947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12224,468 - 226,971 (-)Ensembl
Ensembl Acc Id: ENST00000543722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12224,026 - 226,679 (-)Ensembl
Ensembl Acc Id: ENST00000546319   ⟹   ENSP00000444606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12235,194 - 262,873 (-)Ensembl
RefSeq Acc Id: NM_001190997   ⟹   NP_001177926
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812220,622 - 262,836 (-)NCBI
GRCh3712329,787 - 372,039 (-)NCBI
Celera121,938,637 - 1,980,875 (-)RGD
HuRef12182,903 - 225,079 (-)NCBI
CHM1_112328,777 - 371,038 (-)NCBI
T2T-CHM13v2.012217,551 - 259,667 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001243392   ⟹   NP_001230321
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812258,989 - 262,836 (-)NCBI
HuRef12182,903 - 225,079 (-)NCBI
CHM1_112367,154 - 371,038 (-)NCBI
T2T-CHM13v2.012255,820 - 259,667 (-)NCBI
Sequence:
RefSeq Acc Id: NM_016615   ⟹   NP_057699
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812220,622 - 262,836 (-)NCBI
GRCh3712329,787 - 372,039 (-)NCBI
Build 3612200,052 - 242,263 (-)NCBI Archive
Celera121,938,637 - 1,980,875 (-)RGD
HuRef12182,903 - 225,079 (-)NCBI
CHM1_112328,777 - 371,038 (-)NCBI
T2T-CHM13v2.012217,551 - 259,667 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006719008   ⟹   XP_006719071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812220,622 - 237,568 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017019842   ⟹   XP_016875331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812220,622 - 237,568 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017019845   ⟹   XP_016875334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812220,622 - 237,568 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047429420   ⟹   XP_047285376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812220,622 - 242,699 (-)NCBI
RefSeq Acc Id: XM_054373004   ⟹   XP_054228979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012217,551 - 234,534 (-)NCBI
RefSeq Acc Id: XM_054373005   ⟹   XP_054228980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012217,551 - 239,550 (-)NCBI
RefSeq Acc Id: XM_054373006   ⟹   XP_054228981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012217,551 - 234,487 (-)NCBI
RefSeq Acc Id: XM_054373007   ⟹   XP_054228982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012217,551 - 234,523 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001177926 (Get FASTA)   NCBI Sequence Viewer  
  NP_001230321 (Get FASTA)   NCBI Sequence Viewer  
  NP_057699 (Get FASTA)   NCBI Sequence Viewer  
  XP_006719071 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875331 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875334 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285376 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228979 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228980 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228981 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228982 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF64247 (Get FASTA)   NCBI Sequence Viewer  
  AAH20867 (Get FASTA)   NCBI Sequence Viewer  
  AAH22392 (Get FASTA)   NCBI Sequence Viewer  
  AAP97713 (Get FASTA)   NCBI Sequence Viewer  
  BAG36291 (Get FASTA)   NCBI Sequence Viewer  
  BAG58695 (Get FASTA)   NCBI Sequence Viewer  
  BAG58873 (Get FASTA)   NCBI Sequence Viewer  
  BAG58935 (Get FASTA)   NCBI Sequence Viewer  
  EAW88972 (Get FASTA)   NCBI Sequence Viewer  
  EAW88973 (Get FASTA)   NCBI Sequence Viewer  
  EAW88974 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000339260
  ENSP00000339260.4
  ENSP00000389316
  ENSP00000389316.1
  ENSP00000407104
  ENSP00000407104.2
  ENSP00000437386.1
  ENSP00000443466.1
  ENSP00000444606.1
GenBank Protein Q9NSD5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_057699   ⟸   NM_016615
- Peptide Label: isoform 1
- UniProtKB: Q8TCC2 (UniProtKB/Swiss-Prot),   B4DJL1 (UniProtKB/Swiss-Prot),   Q8WW56 (UniProtKB/Swiss-Prot),   Q9NSD5 (UniProtKB/Swiss-Prot),   B4DJS3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001177926   ⟸   NM_001190997
- Peptide Label: isoform 2
- UniProtKB: Q9NSD5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001230321   ⟸   NM_001243392
- Peptide Label: isoform 3
- UniProtKB: Q9NSD5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006719071   ⟸   XM_006719008
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016875331   ⟸   XM_017019842
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016875334   ⟸   XM_017019845
- Peptide Label: isoform X3
- Sequence:
Ensembl Acc Id: ENSP00000443466   ⟸   ENST00000542272
Ensembl Acc Id: ENSP00000444606   ⟸   ENST00000546319
Ensembl Acc Id: ENSP00000407104   ⟸   ENST00000445055
Ensembl Acc Id: ENSP00000437386   ⟸   ENST00000539260
Ensembl Acc Id: ENSP00000339260   ⟸   ENST00000343164
Ensembl Acc Id: ENSP00000389316   ⟸   ENST00000436453
RefSeq Acc Id: XP_047285376   ⟸   XM_047429420
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054228980   ⟸   XM_054373005
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054228979   ⟸   XM_054373004
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054228982   ⟸   XM_054373007
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054228981   ⟸   XM_054373006
- Peptide Label: isoform X3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NSD5-F1-model_v2 AlphaFold Q9NSD5 1-602 view protein structure

Promoters
RGD ID:7222711
Promoter ID:EPDNEW_H17100
Type:multiple initiation site
Name:SLC6A13_1
Description:solute carrier family 6 member 13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812262,836 - 262,896EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11046 AgrOrtholog
COSMIC SLC6A13 COSMIC
Ensembl Genes ENSG00000010379 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000343164 ENTREZGENE
  ENST00000343164.9 UniProtKB/Swiss-Prot
  ENST00000436453 ENTREZGENE
  ENST00000436453.1 UniProtKB/Swiss-Prot
  ENST00000445055 ENTREZGENE
  ENST00000445055.6 UniProtKB/Swiss-Prot
  ENST00000539260.1 UniProtKB/TrEMBL
  ENST00000542272.5 UniProtKB/TrEMBL
  ENST00000546319.5 UniProtKB/TrEMBL
GTEx ENSG00000010379 GTEx
HGNC ID HGNC:11046 ENTREZGENE
Human Proteome Map SLC6A13 Human Proteome Map
InterPro Na/ntran_symport UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Na/ntran_symport_GABA_GAT2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNS_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6540 UniProtKB/Swiss-Prot
NCBI Gene 6540 ENTREZGENE
OMIM 615097 OMIM
PANTHER PTHR11616 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SODIUM- AND CHLORIDE-DEPENDENT GABA TRANSPORTER 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SNF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35909 PharmGKB
PRINTS GAT2TRNSPORT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NANEUSMPORT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NA_NEUROTRAN_SYMP_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NA_NEUROTRAN_SYMP_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NA_NEUROTRAN_SYMP_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF161070 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DJL1 ENTREZGENE
  B4DJS3 ENTREZGENE, UniProtKB/TrEMBL
  F5GZA5_HUMAN UniProtKB/TrEMBL
  F5H5D9_HUMAN UniProtKB/TrEMBL
  F5H6S9_HUMAN UniProtKB/TrEMBL
  Q8TCC2 ENTREZGENE
  Q8WW56 ENTREZGENE
  Q9NSD5 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4DJL1 UniProtKB/Swiss-Prot
  Q8TCC2 UniProtKB/Swiss-Prot
  Q8WW56 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-08 SLC6A13  solute carrier family 6 member 13    solute carrier family 6 (neurotransmitter transporter), member 13  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC6A13  solute carrier family 6 (neurotransmitter transporter), member 13    solute carrier family 6 (neurotransmitter transporter, GABA), member 13  Symbol and/or name change 5135510 APPROVED