SLC7A13 (solute carrier family 7 member 13) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: SLC7A13 (solute carrier family 7 member 13) Homo sapiens
Analyze
Symbol: SLC7A13
Name: solute carrier family 7 member 13
RGD ID: 1323193
HGNC Page HGNC:23092
Description: Predicted to enable L-amino acid transmembrane transporter activity. Predicted to be involved in amino acid transmembrane transport. Predicted to be located in plasma membrane. Predicted to be active in apical plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AGT-1; AGT1; amino acid transporter XAT2; MGC150476; MGC150477; sodium-independent aspartate/glutamate transporter 1; solute carrier family 7 (anionic amino acid transporter), member 13; solute carrier family 7, (cationic amino acid transporter, y+ system) member 13; X-amino acid transporter 2; XAT2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AC091175.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38886,214,063 - 86,230,381 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl886,214,063 - 86,321,146 (-)EnsemblGRCh38hg38GRCh38
GRCh37887,226,292 - 87,242,610 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36887,295,404 - 87,311,720 (-)NCBINCBI36Build 36hg18NCBI36
Build 34887,295,403 - 87,311,720NCBI
Celera883,421,171 - 83,437,487 (-)NCBICelera
Cytogenetic Map8q21.3NCBI
HuRef882,435,273 - 82,451,588 (-)NCBIHuRef
CHM1_1887,267,082 - 87,283,398 (-)NCBICHM1_1
T2T-CHM13v2.0887,334,166 - 87,350,490 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11907033   PMID:11943479   PMID:12477932   PMID:14702039   PMID:20351267   PMID:20379614   PMID:21873635   PMID:28235644   PMID:29987050   PMID:33961781  


Genomics

Comparative Map Data
SLC7A13
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38886,214,063 - 86,230,381 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl886,214,063 - 86,321,146 (-)EnsemblGRCh38hg38GRCh38
GRCh37887,226,292 - 87,242,610 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36887,295,404 - 87,311,720 (-)NCBINCBI36Build 36hg18NCBI36
Build 34887,295,403 - 87,311,720NCBI
Celera883,421,171 - 83,437,487 (-)NCBICelera
Cytogenetic Map8q21.3NCBI
HuRef882,435,273 - 82,451,588 (-)NCBIHuRef
CHM1_1887,267,082 - 87,283,398 (-)NCBICHM1_1
T2T-CHM13v2.0887,334,166 - 87,350,490 (-)NCBIT2T-CHM13v2.0
Slc7a13
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39419,818,727 - 19,842,213 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl419,818,725 - 19,842,218 (+)EnsemblGRCm39 Ensembl
GRCm38419,818,727 - 19,842,213 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl419,818,725 - 19,842,218 (+)EnsemblGRCm38mm10GRCm38
MGSCv37419,745,874 - 19,769,360 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36419,745,891 - 19,769,365 (+)NCBIMGSCv36mm8
Celera419,575,900 - 19,599,881 (+)NCBICelera
Cytogenetic Map4A3NCBI
cM Map47.63NCBI
Slc7a13
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8538,074,171 - 38,096,856 (+)NCBIGRCr8
mRatBN7.2533,277,400 - 33,298,186 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl533,277,416 - 33,298,092 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx535,397,690 - 35,418,489 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0536,989,890 - 37,010,693 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0536,929,398 - 36,950,201 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0533,784,757 - 33,805,446 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl533,784,715 - 33,805,616 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0538,439,678 - 38,460,867 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4534,417,523 - 34,438,081 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1534,417,701 - 34,438,249 (+)NCBI
Celera532,365,052 - 32,385,738 (+)NCBICelera
Cytogenetic Map5q13NCBI
Slc7a13
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554173,882,626 - 3,897,772 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554173,882,910 - 3,897,753 (-)NCBIChiLan1.0ChiLan1.0
SLC7A13
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27103,617,595 - 103,634,449 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1879,155,929 - 79,172,771 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0882,910,285 - 82,927,127 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1884,881,504 - 84,897,628 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl884,877,438 - 84,897,628 (-)Ensemblpanpan1.1panPan2
SLC7A13
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12932,416,941 - 32,434,249 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2932,637,150 - 32,654,655 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02932,571,790 - 32,589,297 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12932,615,931 - 32,686,659 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02932,640,378 - 32,657,885 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02933,060,731 - 33,078,247 (-)NCBIUU_Cfam_GSD_1.0
Slc7a13
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530346,926,765 - 46,936,774 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936544855,995 - 865,946 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936544855,995 - 865,940 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC7A13
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl450,614,313 - 50,643,341 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1450,614,261 - 50,642,387 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2455,573,526 - 55,609,325 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC7A13
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1881,396,280 - 81,413,401 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl881,396,249 - 81,413,013 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603959,537,600 - 59,555,520 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc7a13
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247445,529,317 - 5,543,705 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247445,529,396 - 5,543,414 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC7A13
95 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.2-21.3(chr8:85554861-86369755)x3 copy number gain See cases [RCV000051000] Chr8:85554861..86369755 [GRCh38]
Chr8:86467090..87381984 [GRCh37]
Chr8:86654342..87451100 [NCBI36]
Chr8:8q21.2-21.3		 uncertain significance
GRCh38/hg38 8q21.2-22.1(chr8:85835757-93610142)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053676]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053676]|See cases [RCV000053676] Chr8:85835757..93610142 [GRCh38]
Chr8:86847986..94622370 [GRCh37]
Chr8:86917086..94691546 [NCBI36]
Chr8:8q21.2-22.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1 copy number loss See cases [RCV000054261] Chr8:77765431..91839285 [GRCh38]
Chr8:78677666..92851513 [GRCh37]
Chr8:78840221..92920689 [NCBI36]
Chr8:8q21.13-21.3		 pathogenic
GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1 copy number loss See cases [RCV000054262] Chr8:78672463..95366868 [GRCh38]
Chr8:79584698..96379096 [GRCh37]
Chr8:79747253..96448272 [NCBI36]
Chr8:8q21.13-22.1		 pathogenic
NM_138817.2(SLC7A13):c.1180-1018G>A single nucleotide variant Malignant melanoma [RCV000068427] Chr8:86215664 [GRCh38]
Chr8:87227893 [GRCh37]
Chr8:87297009 [NCBI36]
Chr8:8q21.3		 not provided
NM_138817.3(SLC7A13):c.808C>T (p.Leu270Phe) single nucleotide variant not provided [RCV002179177] Chr8:86222981 [GRCh38]
Chr8:87235210 [GRCh37]
Chr8:87304326 [NCBI36]
Chr8:8q21.3		 likely benign|not provided
NM_138817.2(SLC7A13):c.72T>C (p.Ile24=) single nucleotide variant Malignant melanoma [RCV000068429] Chr8:86230206 [GRCh38]
Chr8:87242435 [GRCh37]
Chr8:87311551 [NCBI36]
Chr8:8q21.3		 not provided
GRCh38/hg38 8q21.3(chr8:86187888-86300584)x3 copy number gain See cases [RCV000135193] Chr8:86187888..86300584 [GRCh38]
Chr8:87200117..87312813 [GRCh37]
Chr8:87269233..87381929 [NCBI36]
Chr8:8q21.3		 likely benign
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q21.2-21.3(chr8:85833750-86478465)x3 copy number gain See cases [RCV000143209] Chr8:85833750..86478465 [GRCh38]
Chr8:86845979..87490694 [GRCh37]
Chr8:86915079..87559810 [NCBI36]
Chr8:8q21.2-21.3		 uncertain significance
GRCh38/hg38 8q21.2-21.3(chr8:83721453-87866414)x3 copy number gain See cases [RCV000143246] Chr8:83721453..87866414 [GRCh38]
Chr8:84633688..88878642 [GRCh37]
Chr8:84796243..88947758 [NCBI36]
Chr8:8q21.2-21.3		 uncertain significance
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
NM_138817.3(SLC7A13):c.1159A>T (p.Asn387Tyr) single nucleotide variant not specified [RCV004320065] Chr8:86217490 [GRCh38]
Chr8:87229719 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.311G>C (p.Gly104Ala) single nucleotide variant not specified [RCV004302909] Chr8:86229967 [GRCh38]
Chr8:87242196 [GRCh37]
Chr8:8q21.3		 uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8q21.3(chr8:87153679-87300640)x3 copy number gain not provided [RCV000659241] Chr8:87153679..87300640 [GRCh37]
Chr8:8q21.3		 likely benign
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.3(chr8:87188869-87333785)x3 copy number gain not provided [RCV000747696] Chr8:87188869..87333785 [GRCh37]
Chr8:8q21.3		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.13-21.3(chr8:84358585-89159915)x1 copy number loss not provided [RCV000845762] Chr8:84358585..89159915 [GRCh37]
Chr8:8q21.13-21.3		 uncertain significance
GRCh37/hg19 8q21.3(chr8:87167789-87387965)x3 copy number gain not provided [RCV001006119] Chr8:87167789..87387965 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.53G>A (p.Gly18Asp) single nucleotide variant not specified [RCV004299811] Chr8:86230225 [GRCh38]
Chr8:87242454 [GRCh37]
Chr8:8q21.3		 uncertain significance
GRCh37/hg19 8q21.2-21.3(chr8:86841155-88126932)x1 copy number loss not provided [RCV002473796] Chr8:86841155..88126932 [GRCh37]
Chr8:8q21.2-21.3		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q21.11-21.3(chr8:77906471-88917707) copy number loss not specified [RCV002053776] Chr8:77906471..88917707 [GRCh37]
Chr8:8q21.11-21.3		 pathogenic
NM_138817.3(SLC7A13):c.874C>A (p.Pro292Thr) single nucleotide variant not provided [RCV001881639]|not specified [RCV004041406] Chr8:86217775 [GRCh38]
Chr8:87230004 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.1155A>T (p.Glu385Asp) single nucleotide variant not provided [RCV001974021]|not specified [RCV004681373] Chr8:86217494 [GRCh38]
Chr8:87229723 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.451C>A (p.Arg151Ser) single nucleotide variant not provided [RCV002050243]|not specified [RCV004038756] Chr8:86229827 [GRCh38]
Chr8:87242056 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.761T>A (p.Leu254Ter) single nucleotide variant not provided [RCV001883303] Chr8:86223028 [GRCh38]
Chr8:87235257 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.520A>T (p.Ile174Phe) single nucleotide variant not provided [RCV002017244] Chr8:86229758 [GRCh38]
Chr8:87241987 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.479A>G (p.Gln160Arg) single nucleotide variant not provided [RCV001931606]|not specified [RCV004041975] Chr8:86229799 [GRCh38]
Chr8:87242028 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.1139G>A (p.Arg380Lys) single nucleotide variant not provided [RCV002124622] Chr8:86217510 [GRCh38]
Chr8:87229739 [GRCh37]
Chr8:8q21.3		 benign
NM_138817.3(SLC7A13):c.1162C>T (p.Leu388=) single nucleotide variant not provided [RCV002186675] Chr8:86217487 [GRCh38]
Chr8:87229716 [GRCh37]
Chr8:8q21.3		 likely benign
NM_138817.3(SLC7A13):c.1413_*7del (p.Glu470_Ter471insTer) deletion not provided [RCV002091694] Chr8:86214406..86214413 [GRCh38]
Chr8:87226635..87226642 [GRCh37]
Chr8:8q21.3		 benign
NM_138817.3(SLC7A13):c.930A>C (p.Ser310=) single nucleotide variant not provided [RCV002146919] Chr8:86217719 [GRCh38]
Chr8:87229948 [GRCh37]
Chr8:8q21.3		 benign
NM_138817.3(SLC7A13):c.685+7A>G single nucleotide variant not provided [RCV002075250] Chr8:86229586 [GRCh38]
Chr8:87241815 [GRCh37]
Chr8:8q21.3		 likely benign
NM_138817.3(SLC7A13):c.135C>G (p.Asn45Lys) single nucleotide variant not provided [RCV002087211] Chr8:86230143 [GRCh38]
Chr8:87242372 [GRCh37]
Chr8:8q21.3		 benign
NM_138817.3(SLC7A13):c.988C>T (p.Leu330Phe) single nucleotide variant not provided [RCV002194980] Chr8:86217661 [GRCh38]
Chr8:87229890 [GRCh37]
Chr8:8q21.3		 benign
NM_138817.3(SLC7A13):c.1172C>A (p.Pro391His) single nucleotide variant not provided [RCV002114039] Chr8:86217477 [GRCh38]
Chr8:87229706 [GRCh37]
Chr8:8q21.3		 benign
NM_138817.3(SLC7A13):c.1355T>C (p.Met452Thr) single nucleotide variant not provided [RCV002129631] Chr8:86214471 [GRCh38]
Chr8:87226700 [GRCh37]
Chr8:8q21.3		 benign
NM_138817.3(SLC7A13):c.216A>G (p.Ile72Met) single nucleotide variant not provided [RCV002208710] Chr8:86230062 [GRCh38]
Chr8:87242291 [GRCh37]
Chr8:8q21.3		 benign
NM_138817.3(SLC7A13):c.1176T>C (p.Tyr392=) single nucleotide variant not provided [RCV002168085] Chr8:86217473 [GRCh38]
Chr8:87229702 [GRCh37]
Chr8:8q21.3		 benign
NM_138817.3(SLC7A13):c.1408G>A (p.Glu470Lys) single nucleotide variant not provided [RCV002146915] Chr8:86214418 [GRCh38]
Chr8:87226647 [GRCh37]
Chr8:8q21.3		 benign
NM_138817.3(SLC7A13):c.930A>T (p.Ser310=) single nucleotide variant not provided [RCV002165240] Chr8:86217719 [GRCh38]
Chr8:87229948 [GRCh37]
Chr8:8q21.3		 benign
NM_138817.3(SLC7A13):c.1098G>A (p.Thr366=) single nucleotide variant not provided [RCV002141838] Chr8:86217551 [GRCh38]
Chr8:87229780 [GRCh37]
Chr8:8q21.3		 benign
NM_138817.3(SLC7A13):c.707CAA[1] (p.Thr237del) microsatellite not provided [RCV002140065] Chr8:86223077..86223079 [GRCh38]
Chr8:87235306..87235308 [GRCh37]
Chr8:8q21.3		 benign
NM_138817.3(SLC7A13):c.660C>T (p.Gly220=) single nucleotide variant not provided [RCV002136820] Chr8:86229618 [GRCh38]
Chr8:87241847 [GRCh37]
Chr8:8q21.3		 benign
NM_138817.3(SLC7A13):c.312G>C (p.Gly104=) single nucleotide variant not provided [RCV002181869] Chr8:86229966 [GRCh38]
Chr8:87242195 [GRCh37]
Chr8:8q21.3		 likely benign
NM_138817.3(SLC7A13):c.367T>C (p.Phe123Leu) single nucleotide variant not provided [RCV002164509] Chr8:86229911 [GRCh38]
Chr8:87242140 [GRCh37]
Chr8:8q21.3		 likely benign
NM_138817.3(SLC7A13):c.735G>A (p.Ala245=) single nucleotide variant not provided [RCV002140770] Chr8:86223054 [GRCh38]
Chr8:87235283 [GRCh37]
Chr8:8q21.3		 benign
NM_138817.3(SLC7A13):c.249T>C (p.Phe83=) single nucleotide variant not provided [RCV002118102] Chr8:86230029 [GRCh38]
Chr8:87242258 [GRCh37]
Chr8:8q21.3		 benign
NM_138817.3(SLC7A13):c.745G>A (p.Val249Met) single nucleotide variant not provided [RCV002181267] Chr8:86223044 [GRCh38]
Chr8:87235273 [GRCh37]
Chr8:8q21.3		 benign
NM_138817.3(SLC7A13):c.1186T>C (p.Leu396=) single nucleotide variant not provided [RCV002121515] Chr8:86214640 [GRCh38]
Chr8:87226869 [GRCh37]
Chr8:8q21.3		 likely benign
NC_000008.10:g.(?_86053597)_(87755855_?)dup duplication not provided [RCV003119954] Chr8:86053597..87755855 [GRCh37]
Chr8:8q21.2-21.3		 uncertain significance
NC_000008.10:g.(?_87226642)_(87242506_?)dup duplication not provided [RCV003123106] Chr8:87226642..87242506 [GRCh37]
Chr8:8q21.3		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3 copy number gain not provided [RCV002474526] Chr8:79409349..119040631 [GRCh37]
Chr8:8q21.12-24.11		 pathogenic
GRCh37/hg19 8q21.3(chr8:87010235-91879538)x1 copy number loss not provided [RCV002472864] Chr8:87010235..91879538 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.895T>C (p.Leu299=) single nucleotide variant not provided [RCV002616711] Chr8:86217754 [GRCh38]
Chr8:87229983 [GRCh37]
Chr8:8q21.3		 likely benign
NM_138817.3(SLC7A13):c.898T>C (p.Phe300Leu) single nucleotide variant not specified [RCV004177118] Chr8:86217751 [GRCh38]
Chr8:87229980 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.844C>T (p.Arg282Ter) single nucleotide variant not provided [RCV002972623] Chr8:86217805 [GRCh38]
Chr8:87230034 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.905A>G (p.Asn302Ser) single nucleotide variant not specified [RCV004134212] Chr8:86217744 [GRCh38]
Chr8:87229973 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.1297T>C (p.Leu433=) single nucleotide variant not provided [RCV002616411] Chr8:86214529 [GRCh38]
Chr8:87226758 [GRCh37]
Chr8:8q21.3		 likely benign
NM_138817.3(SLC7A13):c.89G>C (p.Gly30Ala) single nucleotide variant not specified [RCV004117937] Chr8:86230189 [GRCh38]
Chr8:87242418 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.1205del (p.Thr402fs) deletion not provided [RCV002908213] Chr8:86214621 [GRCh38]
Chr8:87226850 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.680T>C (p.Ile227Thr) single nucleotide variant not specified [RCV004104098] Chr8:86229598 [GRCh38]
Chr8:87241827 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.452G>T (p.Arg151Leu) single nucleotide variant not provided [RCV002976693] Chr8:86229826 [GRCh38]
Chr8:87242055 [GRCh37]
Chr8:8q21.3		 benign
NM_138817.3(SLC7A13):c.214A>G (p.Ile72Val) single nucleotide variant not provided [RCV002621051] Chr8:86230064 [GRCh38]
Chr8:87242293 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.222C>G (p.Phe74Leu) single nucleotide variant not provided [RCV002928053] Chr8:86230056 [GRCh38]
Chr8:87242285 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.674C>T (p.Thr225Ile) single nucleotide variant not specified [RCV004188119] Chr8:86229604 [GRCh38]
Chr8:87241833 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.619C>A (p.Leu207Ile) single nucleotide variant not specified [RCV004234973] Chr8:86229659 [GRCh38]
Chr8:87241888 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.1189T>C (p.Ser397Pro) single nucleotide variant not provided [RCV002909981] Chr8:86214637 [GRCh38]
Chr8:87226866 [GRCh37]
Chr8:8q21.3		 likely benign
NM_138817.3(SLC7A13):c.419C>T (p.Ala140Val) single nucleotide variant not specified [RCV004170453] Chr8:86229859 [GRCh38]
Chr8:87242088 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.1064G>C (p.Ser355Thr) single nucleotide variant not specified [RCV004140835] Chr8:86217585 [GRCh38]
Chr8:87229814 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.710C>T (p.Thr237Ile) single nucleotide variant not specified [RCV004126717] Chr8:86223079 [GRCh38]
Chr8:87235308 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.686-16C>T single nucleotide variant not provided [RCV002741692] Chr8:86223119 [GRCh38]
Chr8:87235348 [GRCh37]
Chr8:8q21.3		 likely benign
NM_138817.3(SLC7A13):c.803A>G (p.Glu268Gly) single nucleotide variant not specified [RCV004082292] Chr8:86222986 [GRCh38]
Chr8:87235215 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.932C>T (p.Ser311Leu) single nucleotide variant not provided [RCV003082655] Chr8:86217717 [GRCh38]
Chr8:87229946 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.702C>T (p.Pro234=) single nucleotide variant not provided [RCV002625932] Chr8:86223087 [GRCh38]
Chr8:87235316 [GRCh37]
Chr8:8q21.3		 likely benign
NM_138817.3(SLC7A13):c.1312C>A (p.Pro438Thr) single nucleotide variant not specified [RCV004103213] Chr8:86214514 [GRCh38]
Chr8:87226743 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.8G>C (p.Arg3Thr) single nucleotide variant not specified [RCV004172540] Chr8:86230270 [GRCh38]
Chr8:87242499 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.1208T>A (p.Ile403Lys) single nucleotide variant not specified [RCV004154607] Chr8:86214618 [GRCh38]
Chr8:87226847 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.288T>G (p.Asn96Lys) single nucleotide variant not provided [RCV002929211] Chr8:86229990 [GRCh38]
Chr8:87242219 [GRCh37]
Chr8:8q21.3		 likely benign
NM_138817.3(SLC7A13):c.826G>A (p.Ala276Thr) single nucleotide variant not provided [RCV002807103] Chr8:86217823 [GRCh38]
Chr8:87230052 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.344T>G (p.Leu115Arg) single nucleotide variant not specified [RCV004193642] Chr8:86229934 [GRCh38]
Chr8:87242163 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.893C>T (p.Ser298Leu) single nucleotide variant not provided [RCV002577421] Chr8:86217756 [GRCh38]
Chr8:87229985 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.345T>C (p.Leu115=) single nucleotide variant not provided [RCV002933723] Chr8:86229933 [GRCh38]
Chr8:87242162 [GRCh37]
Chr8:8q21.3		 benign
NM_138817.3(SLC7A13):c.372del (p.Ser126fs) deletion not provided [RCV002791723] Chr8:86229906 [GRCh38]
Chr8:87242135 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.868A>T (p.Ile290Phe) single nucleotide variant not provided [RCV002746588] Chr8:86217781 [GRCh38]
Chr8:87230010 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.283T>C (p.Leu95=) single nucleotide variant not provided [RCV003031227] Chr8:86229995 [GRCh38]
Chr8:87242224 [GRCh37]
Chr8:8q21.3		 likely benign
NM_138817.3(SLC7A13):c.572A>T (p.Glu191Val) single nucleotide variant not specified [RCV004097703] Chr8:86229706 [GRCh38]
Chr8:87241935 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.548T>G (p.Ile183Arg) single nucleotide variant not specified [RCV004210426] Chr8:86229730 [GRCh38]
Chr8:87241959 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.1082A>G (p.Asn361Ser) single nucleotide variant not provided [RCV002988431] Chr8:86217567 [GRCh38]
Chr8:87229796 [GRCh37]
Chr8:8q21.3		 likely benign
NM_138817.3(SLC7A13):c.1076T>G (p.Leu359Trp) single nucleotide variant not provided [RCV002770554]|not specified [RCV004064680] Chr8:86217573 [GRCh38]
Chr8:87229802 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.1146A>C (p.Arg382Ser) single nucleotide variant not provided [RCV003073257]|not specified [RCV004072000] Chr8:86217503 [GRCh38]
Chr8:87229732 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.542T>A (p.Phe181Tyr) single nucleotide variant not provided [RCV002944161] Chr8:86229736 [GRCh38]
Chr8:87241965 [GRCh37]
Chr8:8q21.3		 likely benign
NM_138817.3(SLC7A13):c.823G>A (p.Val275Ile) single nucleotide variant not provided [RCV002584279] Chr8:86217826 [GRCh38]
Chr8:87230055 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.142G>C (p.Val48Leu) single nucleotide variant not provided [RCV002610303] Chr8:86230136 [GRCh38]
Chr8:87242365 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.833C>T (p.Thr278Ile) single nucleotide variant not specified [RCV004274592] Chr8:86217816 [GRCh38]
Chr8:87230045 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.457G>C (p.Val153Leu) single nucleotide variant not specified [RCV004347215] Chr8:86229821 [GRCh38]
Chr8:87242050 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.551G>C (p.Arg184Thr) single nucleotide variant not provided [RCV003873598] Chr8:86229727 [GRCh38]
Chr8:87241956 [GRCh37]
Chr8:8q21.3		 uncertain significance
GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3 copy number gain not provided [RCV003484742] Chr8:79046933..102008860 [GRCh37]
Chr8:8q21.12-22.3		 pathogenic
GRCh37/hg19 8q21.3-22.1(chr8:86955187-94955826)x1 copy number loss not provided [RCV003483033] Chr8:86955187..94955826 [GRCh37]
Chr8:8q21.3-22.1		 uncertain significance
GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1 copy number loss not provided [RCV003483032] Chr8:84127576..98263585 [GRCh37]
Chr8:8q21.13-22.1		 pathogenic
NM_138817.3(SLC7A13):c.687G>A (p.Gly229=) single nucleotide variant not provided [RCV003692250] Chr8:86223102 [GRCh38]
Chr8:87235331 [GRCh37]
Chr8:8q21.3		 likely benign
NM_138817.3(SLC7A13):c.273G>A (p.Thr91=) single nucleotide variant not provided [RCV003828916] Chr8:86230005 [GRCh38]
Chr8:87242234 [GRCh37]
Chr8:8q21.3		 likely benign
NM_138817.3(SLC7A13):c.849T>C (p.Ala283=) single nucleotide variant not provided [RCV003661146] Chr8:86217800 [GRCh38]
Chr8:87230029 [GRCh37]
Chr8:8q21.3		 likely benign
NM_138817.3(SLC7A13):c.1142G>A (p.Arg381Gln) single nucleotide variant not provided [RCV003717994] Chr8:86217507 [GRCh38]
Chr8:87229736 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.3G>C (p.Met1Ile) single nucleotide variant not provided [RCV003701033] Chr8:86230275 [GRCh38]
Chr8:87242504 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.452G>A (p.Arg151His) single nucleotide variant not provided [RCV003579722] Chr8:86229826 [GRCh38]
Chr8:87242055 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.1298T>G (p.Leu433Ter) single nucleotide variant not provided [RCV003725321] Chr8:86214528 [GRCh38]
Chr8:87226757 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.637C>T (p.Gln213Ter) single nucleotide variant not provided [RCV003679815] Chr8:86229641 [GRCh38]
Chr8:87241870 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.154G>A (p.Val52Ile) single nucleotide variant not provided [RCV003555626] Chr8:86230124 [GRCh38]
Chr8:87242353 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.561G>A (p.Lys187=) single nucleotide variant not provided [RCV003684053] Chr8:86229717 [GRCh38]
Chr8:87241946 [GRCh37]
Chr8:8q21.3		 likely benign
NM_138817.3(SLC7A13):c.434T>C (p.Val145Ala) single nucleotide variant not provided [RCV003720519] Chr8:86229844 [GRCh38]
Chr8:87242073 [GRCh37]
Chr8:8q21.3		 uncertain significance
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3		 pathogenic
NM_138817.3(SLC7A13):c.1215C>T (p.Ile405=) single nucleotide variant not provided [RCV003737497] Chr8:86214611 [GRCh38]
Chr8:87226840 [GRCh37]
Chr8:8q21.3		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-21.3(chr8:85339090-89534521)x3 copy number gain not specified [RCV003986766] Chr8:85339090..89534521 [GRCh37]
Chr8:8q21.2-21.3		 uncertain significance
NM_138817.3(SLC7A13):c.1370A>G (p.Gln457Arg) single nucleotide variant not provided [RCV003728114] Chr8:86214456 [GRCh38]
Chr8:87226685 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.1097C>T (p.Thr366Met) single nucleotide variant not specified [RCV004464384] Chr8:86217552 [GRCh38]
Chr8:87229781 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.292T>C (p.Trp98Arg) single nucleotide variant not specified [RCV004456866] Chr8:86229986 [GRCh38]
Chr8:87242215 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.80T>C (p.Ile27Thr) single nucleotide variant not specified [RCV004456868] Chr8:86230198 [GRCh38]
Chr8:87242427 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.103C>T (p.Pro35Ser) single nucleotide variant not specified [RCV004464383] Chr8:86230175 [GRCh38]
Chr8:87242404 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.616C>T (p.His206Tyr) single nucleotide variant not specified [RCV004456867] Chr8:86229662 [GRCh38]
Chr8:87241891 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.988C>A (p.Leu330Ile) single nucleotide variant not specified [RCV004456870] Chr8:86217661 [GRCh38]
Chr8:87229890 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.841G>A (p.Asp281Asn) single nucleotide variant not specified [RCV004456869] Chr8:86217808 [GRCh38]
Chr8:87230037 [GRCh37]
Chr8:8q21.3		 likely benign
NM_138817.3(SLC7A13):c.1228G>A (p.Val410Ile) single nucleotide variant not specified [RCV004464385] Chr8:86214598 [GRCh38]
Chr8:87226827 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.173T>C (p.Ile58Thr) single nucleotide variant not specified [RCV004456865] Chr8:86230105 [GRCh38]
Chr8:87242334 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.587C>G (p.Ala196Gly) single nucleotide variant not specified [RCV004675012] Chr8:86229691 [GRCh38]
Chr8:87241920 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.643T>C (p.Tyr215His) single nucleotide variant not specified [RCV004675010] Chr8:86229635 [GRCh38]
Chr8:87241864 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_138817.3(SLC7A13):c.985A>G (p.Thr329Ala) single nucleotide variant not specified [RCV004675011] Chr8:86217664 [GRCh38]
Chr8:87229893 [GRCh37]
Chr8:8q21.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:357
Count of miRNA genes:294
Interacting mature miRNAs:307
Transcripts:ENST00000297524, ENST00000419776, ENST00000520624
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
406993414GWAS642390_Hintelligence QTL GWAS642390 (human)0.000006intelligence88622250286222503Human

Markers in Region
SHGC-172426  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37887,235,281 - 87,235,587UniSTSGRCh37
Build 36887,304,397 - 87,304,703RGDNCBI36
Celera883,430,164 - 83,430,470RGD
Cytogenetic Map8q21.3UniSTS
HuRef882,444,266 - 82,444,572UniSTS
TNG Radiation Hybrid Map843247.0UniSTS
SLC7A13_3723  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37887,226,253 - 87,226,767UniSTSGRCh37
Build 36887,295,369 - 87,295,883RGDNCBI36
Celera883,421,136 - 83,421,650RGD
HuRef882,435,238 - 82,435,752UniSTS


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
100 303 700 170 1005 254 509 1 190 96 169 861 1241 671 1 213 492 690 145 23

Sequence


Ensembl Acc Id: ENST00000297524   ⟹   ENSP00000297524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl886,214,063 - 86,230,381 (-)Ensembl
Ensembl Acc Id: ENST00000419776   ⟹   ENSP00000410982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl886,214,392 - 86,230,360 (-)Ensembl
Ensembl Acc Id: ENST00000520624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl886,217,626 - 86,321,146 (-)Ensembl
RefSeq Acc Id: NM_138817   ⟹   NP_620172
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38886,214,063 - 86,230,381 (-)NCBI
GRCh37887,226,288 - 87,242,609 (-)NCBI
Build 36887,295,404 - 87,311,720 (-)NCBI Archive
Celera883,421,171 - 83,437,487 (-)RGD
HuRef882,435,273 - 82,451,588 (-)RGD
CHM1_1887,267,082 - 87,283,398 (-)NCBI
T2T-CHM13v2.0887,334,166 - 87,350,490 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516867   ⟹   XP_011515169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38886,214,063 - 86,230,380 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054359845   ⟹   XP_054215820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0887,334,166 - 87,350,489 (-)NCBI
RefSeq Acc Id: NP_620172   ⟸   NM_138817
- UniProtKB: Q08AH9 (UniProtKB/Swiss-Prot),   Q05C37 (UniProtKB/Swiss-Prot),   Q96N84 (UniProtKB/Swiss-Prot),   Q8TCU3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515169   ⟸   XM_011516867
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000297524   ⟸   ENST00000297524
Ensembl Acc Id: ENSP00000410982   ⟸   ENST00000419776
RefSeq Acc Id: XP_054215820   ⟸   XM_054359845
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TCU3-F1-model_v2 AlphaFold Q8TCU3 1-470 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23092 AgrOrtholog
COSMIC SLC7A13 COSMIC
Ensembl Genes ENSG00000164893 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000297524 ENTREZGENE
  ENST00000297524.8 UniProtKB/Swiss-Prot
  ENST00000419776.2 UniProtKB/Swiss-Prot
Gene3D-CATH Amino acid/polyamine transporter I UniProtKB/Swiss-Prot
GTEx ENSG00000164893 GTEx
HGNC ID HGNC:23092 ENTREZGENE
Human Proteome Map SLC7A13 Human Proteome Map
InterPro AA/rel_permease1 UniProtKB/Swiss-Prot
  AminoAcid_Transporter UniProtKB/Swiss-Prot
KEGG Report hsa:157724 UniProtKB/Swiss-Prot
NCBI Gene 157724 ENTREZGENE
OMIM 617256 OMIM
PANTHER AMINO ACID TRANSPORTER UniProtKB/Swiss-Prot
  SOLUTE CARRIER FAMILY 7 MEMBER 13 UniProtKB/Swiss-Prot
Pfam AA_permease_2 UniProtKB/Swiss-Prot
PharmGKB PA134980828 PharmGKB
PIRSF AA_transporter UniProtKB/Swiss-Prot
UniProt Q05C37 ENTREZGENE
  Q08AH9 ENTREZGENE
  Q8TCU3 ENTREZGENE
  Q96N84 ENTREZGENE
  S7A13_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q05C37 UniProtKB/Swiss-Prot
  Q08AH9 UniProtKB/Swiss-Prot
  Q96N84 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC7A13  solute carrier family 7 member 13    solute carrier family 7 (anionic amino acid transporter), member 13  Symbol and/or name change 5135510 APPROVED
2011-07-27 SLC7A13  solute carrier family 7 (anionic amino acid transporter), member 13  SLC7A13  solute carrier family 7, (cationic amino acid transporter, y+ system) member 13  Symbol and/or name change 5135510 APPROVED