SLC29A3 (solute carrier family 29 member 3) - Rat Genome Database

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Gene: SLC29A3 (solute carrier family 29 member 3) Homo sapiens
Analyze
Symbol: SLC29A3
Name: solute carrier family 29 member 3
RGD ID: 1351725
HGNC Page HGNC
Description: Predicted to enable nucleoside transmembrane transporter activity. Predicted to be involved in nucleoside transmembrane transport. Located in Golgi apparatus. Implicated in histiocytosis-lymphadenopathy plus syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ENT3; equilibrative nucleoside transporter 3; FLJ11160; HCLAP; HJCD; PHID; solute carrier family 29 (equilibrative nucleoside transporter), member 3; solute carrier family 29 (nucleoside transporters), member 3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1071,319,259 - 71,381,423 (+)EnsemblGRCh38hg38GRCh38
GRCh381071,319,259 - 71,363,387 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371073,079,016 - 73,123,142 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361072,749,016 - 72,793,153 (+)NCBINCBI36hg18NCBI36
Build 341072,749,037 - 72,793,146NCBI
Celera1066,361,811 - 66,405,947 (+)NCBI
Cytogenetic Map10q22.1NCBI
HuRef1067,073,050 - 67,117,221 (+)NCBIHuRef
CHM1_11073,361,676 - 73,405,808 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cardiovascular system physiology  (IAGP)
Abnormal cranial nerve morphology  (IAGP)
Abnormal dental enamel morphology  (IAGP)
Abnormal eyebrow morphology  (IAGP)
Alopecia  (IAGP)
Alopecia of scalp  (IAGP)
Amenorrhea  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the skin  (IAGP)
Atrial septal defect  (IAGP)
Autosomal recessive inheritance  (IAGP)
Azoospermia  (IAGP)
Bronchiectasis  (IAGP)
Camptodactyly  (IAGP)
Camptodactyly of finger  (IAGP)
Cardiomegaly  (IAGP)
Cerebral calcification  (IAGP)
Cervical lymphadenopathy  (IAGP)
Chronic rhinitis  (IAGP)
Cleft upper lip  (IAGP)
Clinodactyly  (IAGP)
Coarse metaphyseal trabecularization  (IAGP)
Corneal arcus  (IAGP)
Craniofacial hyperostosis  (IAGP)
Decreased response to growth hormone stimulation test  (IAGP)
Decreased testicular size  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed puberty  (IAGP)
Delayed skeletal maturation  (IAGP)
Developmental regression  (IAGP)
Diabetes mellitus  (IAGP)
Downslanted palpebral fissures  (IAGP)
Elbow flexion contracture  (IAGP)
Elevated erythrocyte sedimentation rate  (IAGP)
Enlarged kidney  (IAGP)
Episcleritis  (IAGP)
Facial telangiectasia  (IAGP)
Fever  (IAGP)
Flexion contracture of toe  (IAGP)
Full cheeks  (IAGP)
Gingival overgrowth  (IAGP)
Gynecomastia  (IAGP)
Hallux valgus  (IAGP)
Hearing impairment  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
Hernia  (IAGP)
Histiocytosis  (IAGP)
Hydrocephalus  (IAGP)
Hypergonadotropic hypogonadism  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertrichosis  (IAGP)
Hypertrichotic hyperpigmented patch  (IAGP)
Hypertriglyceridemia  (IAGP)
Hypogonadism  (IAGP)
Hypoplastic vertebral bodies  (IAGP)
Ichthyosis  (IAGP)
Increased bone mineral density  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Irregular vertebral endplates  (IAGP)
Joint contracture of the 5th finger  (IAGP)
Left superior vena cava draining to coronary sinus  (IAGP)
Lipodystrophy  (IAGP)
Lymphadenopathy  (IAGP)
Macrocephaly  (IAGP)
Malabsorption  (IAGP)
Microcytic anemia  (IAGP)
Micropenis  (IAGP)
Mitral valve prolapse  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Osteolysis  (IAGP)
Pancreatic hypoplasia  (IAGP)
Patent ductus arteriosus  (IAGP)
Pes planus  (IAGP)
Platyspondyly  (IAGP)
Proptosis  (IAGP)
Psoriasiform dermatitis  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonic stenosis  (IAGP)
Recurrent fever  (IAGP)
Recurrent fractures  (IAGP)
Recurrent pharyngitis  (IAGP)
Retrognathia  (IAGP)
Retroperitoneal fibrosis  (IAGP)
Rocker bottom foot  (IAGP)
Scleroderma  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short stature  (IAGP)
Splenomegaly  (IAGP)
Stiff skin  (IAGP)
Tibial torsion  (IAGP)
Type I diabetes mellitus  (IAGP)
Upper eyelid edema  (IAGP)
Varicose veins  (IAGP)
Ventricular septal defect  (IAGP)
References

Additional References at PubMed
PMID:12384580   PMID:12477932   PMID:12975309   PMID:14702039   PMID:15489334   PMID:15701636   PMID:16385451   PMID:17897319   PMID:18940313   PMID:19164483   PMID:19336477   PMID:19581757  
PMID:19889517   PMID:20140240   PMID:20199539   PMID:20392501   PMID:20595384   PMID:20677642   PMID:21873635   PMID:22238637   PMID:22653152   PMID:22875837   PMID:22951725   PMID:22989030  
PMID:23251661   PMID:23273568   PMID:23406517   PMID:24535606   PMID:24894595   PMID:25910212   PMID:27316388   PMID:28554179   PMID:28729424   PMID:28985132   PMID:29530865   PMID:29808591  
PMID:30517079   PMID:30537558   PMID:30821020   PMID:31464584   PMID:32513696   PMID:32944792   PMID:33845483  


Genomics

Comparative Map Data
SLC29A3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1071,319,259 - 71,381,423 (+)EnsemblGRCh38hg38GRCh38
GRCh381071,319,259 - 71,363,387 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371073,079,016 - 73,123,142 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361072,749,016 - 72,793,153 (+)NCBINCBI36hg18NCBI36
Build 341072,749,037 - 72,793,146NCBI
Celera1066,361,811 - 66,405,947 (+)NCBI
Cytogenetic Map10q22.1NCBI
HuRef1067,073,050 - 67,117,221 (+)NCBIHuRef
CHM1_11073,361,676 - 73,405,808 (+)NCBICHM1_1
Slc29a3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391060,547,851 - 60,588,624 (-)NCBIGRCm39mm39
GRCm39 Ensembl1060,547,851 - 60,588,573 (-)Ensembl
GRCm381060,712,072 - 60,752,849 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1060,712,072 - 60,752,794 (-)EnsemblGRCm38mm10GRCm38
MGSCv371060,174,820 - 60,215,530 (-)NCBIGRCm37mm9NCBIm37
MGSCv361060,107,430 - 60,148,134 (-)NCBImm8
Celera1061,812,213 - 61,853,590 (-)NCBICelera
Cytogenetic Map10B4NCBI
Slc29a3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22028,645,265 - 28,685,388 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl2028,647,391 - 28,685,388 (-)Ensembl
Rnor_6.02030,289,527 - 30,327,343 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2030,287,424 - 30,327,361 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02032,099,754 - 32,135,978 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42028,041,914 - 28,080,232 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12028,055,735 - 28,094,032 (-)NCBI
Celera2030,085,647 - 30,123,276 (-)NCBICelera
Cytogenetic Map20q11NCBI
Slc29a3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543720,071,742 - 20,108,558 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543720,072,915 - 20,108,342 (-)NCBIChiLan1.0ChiLan1.0
SLC29A3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11070,314,373 - 70,358,482 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1070,317,882 - 70,358,482 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01067,789,060 - 67,833,278 (+)NCBIMhudiblu_PPA_v0panPan3
SLC29A3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1422,094,899 - 22,135,066 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl422,097,764 - 22,133,197 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha422,230,842 - 22,271,406 (+)NCBI
ROS_Cfam_1.0422,372,705 - 22,413,264 (+)NCBI
UMICH_Zoey_3.1422,270,416 - 22,310,582 (+)NCBI
UNSW_CanFamBas_1.0422,475,894 - 22,516,436 (+)NCBI
UU_Cfam_GSD_1.0422,828,522 - 22,869,050 (+)NCBI
Slc29a3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721358,925,189 - 58,959,705 (-)NCBI
SpeTri2.0NW_0049365217,417,914 - 7,452,695 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC29A3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1474,222,658 - 74,274,660 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11474,222,988 - 74,267,527 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21480,113,925 - 80,157,505 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC29A3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1959,927,957 - 59,979,570 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl959,927,964 - 59,975,174 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604820,572,326 - 20,701,433 (-)NCBIVero_WHO_p1.0
Slc29a3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247545,296,083 - 5,330,445 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
WI-17123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371073,123,014 - 73,123,115UniSTSGRCh37
Build 361072,793,020 - 72,793,121RGDNCBI36
Celera1066,405,814 - 66,405,915RGD
Cytogenetic Map10q22.1UniSTS
HuRef1067,117,088 - 67,117,189UniSTS
GeneMap99-GB4 RH Map10370.41UniSTS
Whitehead-RH Map10449.0UniSTS
SHGC-146629  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371073,104,143 - 73,104,415UniSTSGRCh37
Build 361072,774,149 - 72,774,421RGDNCBI36
Celera1066,386,944 - 66,387,216RGD
Cytogenetic Map10q22.1UniSTS
HuRef1067,098,180 - 67,098,452UniSTS
TNG Radiation Hybrid Map1033206.0UniSTS
SHGC-147348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371073,104,659 - 73,104,994UniSTSGRCh37
Build 361072,774,665 - 72,775,000RGDNCBI36
Celera1066,387,460 - 66,387,795RGD
Cytogenetic Map10q22.1UniSTS
HuRef1067,098,696 - 67,099,031UniSTS
TNG Radiation Hybrid Map1033210.0UniSTS
SHGC-148072  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371073,082,045 - 73,082,382UniSTSGRCh37
Build 361072,752,051 - 72,752,388RGDNCBI36
Celera1066,364,846 - 66,365,183RGD
Cytogenetic Map10q22.1UniSTS
HuRef1067,076,085 - 67,076,422UniSTS
TNG Radiation Hybrid Map1033194.0UniSTS
SHGC-149021  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371073,081,549 - 73,081,885UniSTSGRCh37
Build 361072,751,555 - 72,751,891RGDNCBI36
Celera1066,364,350 - 66,364,686RGD
Cytogenetic Map10q22.1UniSTS
HuRef1067,075,589 - 67,075,925UniSTS
TNG Radiation Hybrid Map1033194.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:963
Count of miRNA genes:573
Interacting mature miRNAs:638
Transcripts:ENST00000373189, ENST00000469204, ENST00000479577
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 343 91 206 116 250 110 627 135 359 106 643 382 17 152 328 4
Low 2096 2829 1519 508 1664 355 3575 1853 3365 310 814 1231 158 1 1052 2308 2 2
Below cutoff 71 1 36 155 208 10 3 2 152

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_017066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001174098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF326987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK002022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX775915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX775917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX775919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX775921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY288928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC120996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC120997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BK000392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ834384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC319920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000373189   ⟹   ENSP00000362285
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1071,319,259 - 71,363,385 (+)Ensembl
RefSeq Acc Id: ENST00000469204
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1071,351,688 - 71,362,519 (+)Ensembl
RefSeq Acc Id: ENST00000479577   ⟹   ENSP00000493995
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1071,319,282 - 71,363,352 (+)Ensembl
RefSeq Acc Id: ENST00000642198   ⟹   ENSP00000494827
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1071,319,355 - 71,363,229 (+)Ensembl
RefSeq Acc Id: ENST00000642772   ⟹   ENSP00000495041
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1071,319,282 - 71,381,360 (+)Ensembl
RefSeq Acc Id: ENST00000643042   ⟹   ENSP00000496674
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1071,322,824 - 71,365,168 (+)Ensembl
RefSeq Acc Id: ENST00000643619   ⟹   ENSP00000494378
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1071,319,666 - 71,363,359 (+)Ensembl
RefSeq Acc Id: ENST00000643752   ⟹   ENSP00000495000
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1071,319,265 - 71,365,118 (+)Ensembl
RefSeq Acc Id: ENST00000644088   ⟹   ENSP00000494066
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1071,319,283 - 71,363,390 (+)Ensembl
RefSeq Acc Id: ENST00000644591   ⟹   ENSP00000496664
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1071,319,262 - 71,363,351 (+)Ensembl
RefSeq Acc Id: ENST00000644895   ⟹   ENSP00000493872
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1071,319,279 - 71,381,423 (+)Ensembl
RefSeq Acc Id: ENST00000645345   ⟹   ENSP00000495859
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1071,319,285 - 71,363,351 (+)Ensembl
RefSeq Acc Id: ENST00000647524   ⟹   ENSP00000495077
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1071,319,282 - 71,363,351 (+)Ensembl
RefSeq Acc Id: NM_001174098   ⟹   NP_001167569
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381071,319,259 - 71,363,385 (+)NCBI
GRCh371073,079,010 - 73,123,147 (+)ENTREZGENE
HuRef1067,073,050 - 67,117,221 (+)ENTREZGENE
CHM1_11073,361,676 - 73,405,808 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363518   ⟹   NP_001350447
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381071,319,259 - 71,363,385 (+)NCBI
RefSeq Acc Id: NM_018344   ⟹   NP_060814
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381071,319,259 - 71,363,385 (+)NCBI
GRCh371073,079,010 - 73,123,147 (+)ENTREZGENE
Build 361072,749,016 - 72,793,153 (+)NCBI Archive
HuRef1067,073,050 - 67,117,221 (+)ENTREZGENE
CHM1_11073,361,676 - 73,405,808 (+)NCBI
Sequence:
RefSeq Acc Id: NR_033413
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381071,319,259 - 71,363,385 (+)NCBI
GRCh371073,079,010 - 73,123,147 (+)ENTREZGENE
HuRef1067,073,050 - 67,117,221 (+)ENTREZGENE
CHM1_11073,361,676 - 73,405,808 (+)NCBI
Sequence:
RefSeq Acc Id: NR_033414
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381071,319,259 - 71,363,385 (+)NCBI
GRCh371073,079,010 - 73,123,147 (+)ENTREZGENE
HuRef1067,073,050 - 67,117,221 (+)ENTREZGENE
CHM1_11073,361,676 - 73,405,808 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016377   ⟹   XP_016871866
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381071,319,285 - 71,363,387 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016378   ⟹   XP_016871867
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381071,319,285 - 71,363,387 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001167569   ⟸   NM_001174098
- Peptide Label: isoform b
- UniProtKB: Q9BZD2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_060814   ⟸   NM_018344
- Peptide Label: isoform a
- UniProtKB: Q9BZD2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016871867   ⟸   XM_017016378
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016871866   ⟸   XM_017016377
- Peptide Label: isoform X2
- UniProtKB: Q9BZD2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001350447   ⟸   NM_001363518
- Peptide Label: isoform c
RefSeq Acc Id: ENSP00000493995   ⟸   ENST00000479577
RefSeq Acc Id: ENSP00000362285   ⟸   ENST00000373189
RefSeq Acc Id: ENSP00000494827   ⟸   ENST00000642198
RefSeq Acc Id: ENSP00000495041   ⟸   ENST00000642772
RefSeq Acc Id: ENSP00000496674   ⟸   ENST00000643042
RefSeq Acc Id: ENSP00000495000   ⟸   ENST00000643752
RefSeq Acc Id: ENSP00000494378   ⟸   ENST00000643619
RefSeq Acc Id: ENSP00000496664   ⟸   ENST00000644591
RefSeq Acc Id: ENSP00000493872   ⟸   ENST00000644895
RefSeq Acc Id: ENSP00000494066   ⟸   ENST00000644088
RefSeq Acc Id: ENSP00000495859   ⟸   ENST00000645345
RefSeq Acc Id: ENSP00000495077   ⟸   ENST00000647524

Promoters
RGD ID:7217785
Promoter ID:EPDNEW_H14638
Type:initiation region
Name:SLC29A3_1
Description:solute carrier family 29 member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381071,319,259 - 71,319,319EPDNEW
RGD ID:6788267
Promoter ID:HG_KWN:9947
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NR_033413,   OTTHUMT00000048545,   UC001JRR.2,   UC001JRS.2,   UC001JRT.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361072,748,699 - 72,749,199 (+)MPROMDB
RGD ID:6850894
Promoter ID:EP73242
Type:multiple initiation site
Name:HS_FLJ11160
Description:Equilibrative nucleoside transporter 3.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361072,749,022 - 72,749,082EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_018344.6:c.300+1G>A single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000023936] Chr10:10q22.1 pathogenic
NM_018344.6(SLC29A3):c.308_309del (p.Tyr102_Phe103insTer) deletion Histiocytosis-lymphadenopathy plus syndrome [RCV000023937] Chr10:71344215..71344216 [GRCh38]
Chr10:73103972..73103973 [GRCh37]
Chr10:10q22.1
pathogenic
NM_018344.6(SLC29A3):c.1088G>A (p.Arg363Gln) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000023938] Chr10:71362268 [GRCh38]
Chr10:73122025 [GRCh37]
Chr10:10q22.1
pathogenic
NM_018344.6(SLC29A3):c.1087C>T (p.Arg363Trp) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000023939]|not provided [RCV000493511] Chr10:71362267 [GRCh38]
Chr10:73122024 [GRCh37]
Chr10:10q22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
SLC29A3, 1-BP DEL, 243A deletion Histiocytosis with joint contractures and sensorineural deafness [RCV000023940]|Histiocytosis-lymphadenopathy plus syndrome [RCV000023940] Chr10:10q22.1 pathogenic
NM_018344.6(SLC29A3):c.1157G>A (p.Arg386Gln) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000033097] Chr10:71362337 [GRCh38]
Chr10:73122094 [GRCh37]
Chr10:10q22.1
pathogenic
NM_018344.6(SLC29A3):c.607T>C (p.Ser203Pro) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000033098] Chr10:71351785 [GRCh38]
Chr10:73111542 [GRCh37]
Chr10:10q22.1
pathogenic
NM_018344.6(SLC29A3):c.1279G>A (p.Gly427Ser) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000000593] Chr10:71362459 [GRCh38]
Chr10:73122216 [GRCh37]
Chr10:10q22.1
pathogenic
NM_018344.6(SLC29A3):c.1330G>T (p.Glu444Ter) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000000594]|not provided [RCV000413820] Chr10:71362510 [GRCh38]
Chr10:73122267 [GRCh37]
Chr10:10q22.1
pathogenic|likely pathogenic
NM_018344.6(SLC29A3):c.1309G>A (p.Gly437Arg) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000000595]|not provided [RCV000414664] Chr10:71362489 [GRCh38]
Chr10:73122246 [GRCh37]
Chr10:10q22.1
pathogenic
NM_018344.6(SLC29A3):c.1045del (p.Leu349fs) deletion Histiocytosis-lymphadenopathy plus syndrome [RCV000000596]|not provided [RCV001090811] Chr10:71362221 [GRCh38]
Chr10:73121978 [GRCh37]
Chr10:10q22.1
pathogenic
NM_018344.6(SLC29A3):c.940del (p.Tyr314fs) deletion Histiocytosis-lymphadenopathy plus syndrome [RCV000000597] Chr10:71362120 [GRCh38]
Chr10:73121877 [GRCh37]
Chr10:10q22.1
pathogenic
NM_018344.6(SLC29A3):c.347T>G (p.Met116Arg) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000000598] Chr10:71344255 [GRCh38]
Chr10:73104012 [GRCh37]
Chr10:10q22.1
pathogenic
NM_018344.6(SLC29A3):c.1346C>G (p.Thr449Arg) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000000599] Chr10:71362526 [GRCh38]
Chr10:73122283 [GRCh37]
Chr10:10q22.1
pathogenic
NM_018344.6(SLC29A3):c.300+10del deletion Histiocytosis-lymphadenopathy plus syndrome [RCV000545020] Chr10:71323064 [GRCh38]
Chr10:73082821 [GRCh37]
Chr10:10q22.1
likely benign
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 copy number loss See cases [RCV000052530] Chr10:62229688..74468143 [GRCh38]
Chr10:63989447..76227901 [GRCh37]
Chr10:63659453..75897907 [NCBI36]
Chr10:10q21.2-22.2
pathogenic
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 copy number loss See cases [RCV000052511] Chr10:58436466..74415216 [GRCh38]
Chr10:60196226..76174974 [GRCh37]
Chr10:59866232..75844980 [NCBI36]
Chr10:10q21.1-22.2
pathogenic
NM_018344.6(SLC29A3):c.1228C>T (p.Gln410Ter) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000118376] Chr10:71362408 [GRCh38]
Chr10:73122165 [GRCh37]
Chr10:10q22.1
pathogenic
NM_018344.6(SLC29A3):c.300+1G>A single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000118377] Chr10:71323055 [GRCh38]
Chr10:73082812 [GRCh37]
Chr10:10q22.1
pathogenic
NM_018344.5(SLC29A3):c.-63C>T single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000347072]|not provided [RCV001596969]|not specified [RCV000118372] Chr10:71319247 [GRCh38]
Chr10:73079004 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_018344.6(SLC29A3):c.304T>C (p.Tyr102His) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000330730]|not specified [RCV000118373] Chr10:71344212 [GRCh38]
Chr10:73103969 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_018344.6(SLC29A3):c.597G>A (p.Gln199=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000395768]|not specified [RCV000118374] Chr10:71351775 [GRCh38]
Chr10:73111532 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_018344.6(SLC29A3):c.1008T>C (p.Gly336=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000318573]|not provided [RCV001610422]|not specified [RCV000118375] Chr10:71362188 [GRCh38]
Chr10:73121945 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_018344.6(SLC29A3):c.383+8A>G single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000295610]|not provided [RCV001596970]|not specified [RCV000118378] Chr10:71344299 [GRCh38]
Chr10:73104056 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe) single nucleotide variant Gemcitabine response [RCV000851366]|Histiocytosis-lymphadenopathy plus syndrome [RCV000372313]|not provided [RCV001636671]|not specified [RCV000118379] Chr10:71351651 [GRCh38]
Chr10:73111408 [GRCh37]
Chr10:10q22.1
benign|likely benign|drug response
NM_018344.6(SLC29A3):c.52A>G (p.Arg18Gly) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000383586]|not specified [RCV000118380] Chr10:71322806 [GRCh38]
Chr10:73082563 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_018344.6(SLC29A3):c.714T>C (p.Thr238=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000341296]|not provided [RCV001610423]|not specified [RCV000118381] Chr10:71356184 [GRCh38]
Chr10:73115941 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_002878.3(RAD51D):c.101C>T (p.Ala34Val) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000306476]|not provided [RCV001640095]|not specified [RCV000118382] Chr10:71356185 [GRCh38]
Chr10:73115942 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_018344.6(SLC29A3):c.831C>T (p.Pro277=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000271281]|not specified [RCV000118383] Chr10:71362011 [GRCh38]
Chr10:73121768 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_018344.6(SLC29A3):c.842T>C (p.Leu281Pro) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000312318]|not provided [RCV001572870]|not specified [RCV000118384] Chr10:71362022 [GRCh38]
Chr10:73121779 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_000435.3(NOTCH3):c.3428G>A (p.Arg1143His) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000372971]|not provided [RCV001650965]|not specified [RCV000118385] Chr10:71362156 [GRCh38]
Chr10:73121913 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_018344.6(SLC29A3):c.340C>G (p.Pro114Ala) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001290347] Chr10:71344248 [GRCh38]
Chr10:73104005 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.1061T>C (p.Leu354Pro) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001348068] Chr10:71362241 [GRCh38]
Chr10:73121998 [GRCh37]
Chr10:10q22.1
uncertain significance
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2
pathogenic
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 copy number gain See cases [RCV000135438] Chr10:67196567..79422057 [GRCh38]
Chr10:68956325..81181813 [GRCh37]
Chr10:68626331..80851819 [NCBI36]
Chr10:10q21.3-22.3
pathogenic
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 copy number loss See cases [RCV000136658] Chr10:63402579..75296099 [GRCh38]
Chr10:65162339..77055857 [GRCh37]
Chr10:64832345..76725863 [NCBI36]
Chr10:10q21.3-22.2
pathogenic|likely benign
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2
pathogenic
GRCh38/hg38 10q22.1(chr10:71169571-71556196)x1 copy number loss See cases [RCV000142740] Chr10:71169571..71556196 [GRCh38]
Chr10:72929328..73315953 [GRCh37]
Chr10:72599334..72985959 [NCBI36]
Chr10:10q22.1
uncertain significance
GRCh38/hg38 10q22.1(chr10:71211967-71614160)x1 copy number loss See cases [RCV000143420] Chr10:71211967..71614160 [GRCh38]
Chr10:72971724..73373917 [GRCh37]
Chr10:72641730..73043923 [NCBI36]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.680G>A (p.Arg227Lys) single nucleotide variant not provided [RCV000178968] Chr10:71356150 [GRCh38]
Chr10:73115907 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_000890.5(KCNJ5):c.192C>T (p.His64=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000375495]|not provided [RCV001706147]|not specified [RCV000179502] Chr10:71362326 [GRCh38]
Chr10:73122083 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018344.6(SLC29A3):c.73C>T (p.Arg25Ter) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000192336]|not provided [RCV000488245] Chr10:71322827 [GRCh38]
Chr10:73082584 [GRCh37]
Chr10:10q22.1
pathogenic|uncertain significance
NM_018344.6(SLC29A3):c.*711C>T single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000267195] Chr10:71363319 [GRCh38]
Chr10:73123076 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.*85G>A single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000344118] Chr10:71362693 [GRCh38]
Chr10:73122450 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_018344.6(SLC29A3):c.*403C>T single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000369164] Chr10:71363011 [GRCh38]
Chr10:73122768 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.*103G>T single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000396532] Chr10:71362711 [GRCh38]
Chr10:73122468 [GRCh37]
Chr10:10q22.1
benign
NM_018344.6(SLC29A3):c.*11A>C single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000286844] Chr10:71362619 [GRCh38]
Chr10:73122376 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.*174G>A single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000347456] Chr10:71362782 [GRCh38]
Chr10:73122539 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_018344.6(SLC29A3):c.688G>A (p.Ala230Thr) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000305169] Chr10:71356158 [GRCh38]
Chr10:73115915 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.*318C>T single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000399528] Chr10:71362926 [GRCh38]
Chr10:73122683 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.714_715inv (p.Val239Ile) inversion Histiocytosis-lymphadenopathy plus syndrome [RCV000400055]|not specified [RCV001261569] Chr10:71356184..71356185 [GRCh38]
Chr10:73115941..73115942 [GRCh37]
Chr10:10q22.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018344.6(SLC29A3):c.*705G>A single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000376284] Chr10:71363313 [GRCh38]
Chr10:73123070 [GRCh37]
Chr10:10q22.1
benign|uncertain significance
NM_018344.6(SLC29A3):c.-23C>T single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000329040] Chr10:71319287 [GRCh38]
Chr10:73079044 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.*124C>T single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000308913] Chr10:71362732 [GRCh38]
Chr10:73122489 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_018344.6(SLC29A3):c.946T>G (p.Phe316Val) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000332292] Chr10:71362126 [GRCh38]
Chr10:73121883 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.920G>A (p.Ser307Asn) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000277237] Chr10:71362100 [GRCh38]
Chr10:73121857 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.1001A>G (p.Asn334Ser) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000261096]|not provided [RCV001572984] Chr10:71362181 [GRCh38]
Chr10:73121938 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018344.6(SLC29A3):c.*429C>T single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000276880] Chr10:71363037 [GRCh38]
Chr10:73122794 [GRCh37]
Chr10:10q22.1
benign|uncertain significance
NM_018344.6(SLC29A3):c.300+3A>G single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000294399] Chr10:71323057 [GRCh38]
Chr10:73082814 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_018344.6(SLC29A3):c.385G>A (p.Val129Ile) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000336379] Chr10:71351563 [GRCh38]
Chr10:73111320 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.498G>C (p.Ala166=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000337621] Chr10:71351676 [GRCh38]
Chr10:73111433 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_018344.6(SLC29A3):c.1202G>A (p.Arg401His) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000340573] Chr10:71362382 [GRCh38]
Chr10:73122139 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.383+6C>T single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000389841] Chr10:71344297 [GRCh38]
Chr10:73104054 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_018344.6(SLC29A3):c.797C>T (p.Ala266Val) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000365829] Chr10:71361977 [GRCh38]
Chr10:73121734 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.488G>T (p.Gly163Val) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000282559] Chr10:71351666 [GRCh38]
Chr10:73111423 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_018344.6(SLC29A3):c.1201C>T (p.Arg401Cys) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000283352] Chr10:71362381 [GRCh38]
Chr10:73122138 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.*657dup duplication Histiocytosis-lymphadenopathy plus syndrome [RCV000319344] Chr10:71363258..71363259 [GRCh38]
Chr10:73123015..73123016 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.855G>A (p.Ser285=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000367100] Chr10:71362035 [GRCh38]
Chr10:73121792 [GRCh37]
Chr10:10q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018344.6(SLC29A3):c.199C>T (p.Pro67Ser) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001350636]|not provided [RCV000337486] Chr10:71322953 [GRCh38]
Chr10:73082710 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.*603A>G single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000261731] Chr10:71363211 [GRCh38]
Chr10:73122968 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_000371.3(TTR):c.372C>G (p.Arg124=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000644615]|not provided [RCV001701933]|not specified [RCV000389149] Chr10:71322882 [GRCh38]
Chr10:73082639 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.325G>A (p.Val109Ile) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000803958]|not provided [RCV000390019] Chr10:71344233 [GRCh38]
Chr10:73103990 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.74G>A (p.Arg25Gln) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000884802]|not specified [RCV000357892] Chr10:71322828 [GRCh38]
Chr10:73082585 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.631G>A (p.Val211Ile) single nucleotide variant not provided [RCV000396287] Chr10:71356101 [GRCh38]
Chr10:73115858 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.-31G>C single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000269339] Chr10:71319279 [GRCh38]
Chr10:73079036 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.397A>G (p.Ile133Val) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001367840] Chr10:71351575 [GRCh38]
Chr10:73111332 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.300+1G>C single nucleotide variant not provided [RCV000489914] Chr10:71323055 [GRCh38]
Chr10:73082812 [GRCh37]
Chr10:10q22.1
pathogenic
NM_018344.6(SLC29A3):c.*485G>A single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000296868] Chr10:71363093 [GRCh38]
Chr10:73122850 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.*557A>C single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000354290] Chr10:71363165 [GRCh38]
Chr10:73122922 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.*353C>A single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000312212] Chr10:71362961 [GRCh38]
Chr10:73122718 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.561C>T (p.Tyr187=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001493979]|not provided [RCV000592488] Chr10:71351739 [GRCh38]
Chr10:73111496 [GRCh37]
Chr10:10q22.1
likely benign|uncertain significance
NM_018344.6(SLC29A3):c.1147G>A (p.Val383Met) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000532408] Chr10:71362327 [GRCh38]
Chr10:73122084 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.687C>T (p.Ser229=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001083245]|not provided [RCV000731184] Chr10:71356157 [GRCh38]
Chr10:73115914 [GRCh37]
Chr10:10q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018344.6(SLC29A3):c.365A>G (p.Asn122Ser) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000794742]|not provided [RCV000731335] Chr10:71344273 [GRCh38]
Chr10:73104030 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.384-10C>T single nucleotide variant not provided [RCV000729020] Chr10:71351552 [GRCh38]
Chr10:73111309 [GRCh37]
Chr10:10q22.1
uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_018344.6(SLC29A3):c.1206C>T (p.Val402=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000644616] Chr10:71362386 [GRCh38]
Chr10:73122143 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.973G>A (p.Ala325Thr) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000644610] Chr10:71362153 [GRCh38]
Chr10:73121910 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.516G>A (p.Met172Ile) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000644611] Chr10:71351694 [GRCh38]
Chr10:73111451 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.639C>T (p.Ala213=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000644613] Chr10:71356109 [GRCh38]
Chr10:73115866 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.159A>G (p.Thr53=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000644614] Chr10:71322913 [GRCh38]
Chr10:73082670 [GRCh37]
Chr10:10q22.1
likely benign
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
NM_018344.6(SLC29A3):c.618C>T (p.Ala206=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000559006]|not provided [RCV001702802] Chr10:71356088 [GRCh38]
Chr10:73115845 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_018344.6(SLC29A3):c.986A>G (p.Asn329Ser) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000644607] Chr10:71362166 [GRCh38]
Chr10:73121923 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.40A>G (p.Asn14Asp) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000644608] Chr10:71322794 [GRCh38]
Chr10:73082551 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.148T>C (p.Phe50Leu) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000644609] Chr10:71322902 [GRCh38]
Chr10:73082659 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.895C>T (p.Arg299Cys) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000644612] Chr10:71362075 [GRCh38]
Chr10:73121832 [GRCh37]
Chr10:10q22.1
likely benign
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32
pathogenic
NM_018344.6(SLC29A3):c.146G>C (p.Arg49Pro) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000687209] Chr10:71322900 [GRCh38]
Chr10:73082657 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.991G>A (p.Glu331Lys) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000692997] Chr10:71362171 [GRCh38]
Chr10:73121928 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.22G>A (p.Asp8Asn) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000705023] Chr10:71322776 [GRCh38]
Chr10:73082533 [GRCh37]
Chr10:10q22.1
uncertain significance
NC_000010.10:g.(?_73079047)_(73082831_?)dup duplication Histiocytosis-lymphadenopathy plus syndrome [RCV000708048] Chr10:71319290..71323074 [GRCh38]
Chr10:73079047..73082831 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.707C>T (p.Thr236Met) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000699490] Chr10:71356177 [GRCh38]
Chr10:73115934 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.104T>G (p.Leu35Arg) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000685650] Chr10:71322858 [GRCh38]
Chr10:73082615 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.252C>G (p.Asn84Lys) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000686736] Chr10:71323006 [GRCh38]
Chr10:73082763 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.337G>A (p.Val113Met) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000692783] Chr10:71344245 [GRCh38]
Chr10:73104002 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.68G>A (p.Ser23Asn) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000692789] Chr10:71322822 [GRCh38]
Chr10:73082579 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.248G>A (p.Arg83His) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000695485] Chr10:71323002 [GRCh38]
Chr10:73082759 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.479G>A (p.Trp160Ter) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000695799] Chr10:71351657 [GRCh38]
Chr10:73111414 [GRCh37]
Chr10:10q22.1
pathogenic
NM_018344.6(SLC29A3):c.1219G>A (p.Val407Met) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000694269] Chr10:71362399 [GRCh38]
Chr10:73122156 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.862T>A (p.Ser288Thr) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000686712] Chr10:71362042 [GRCh38]
Chr10:73121799 [GRCh37]
Chr10:10q22.1
uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q22.1(chr10:73062048-73100480)x3 copy number gain not provided [RCV000749673] Chr10:73062048..73100480 [GRCh37]
Chr10:10q22.1
benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_018344.6(SLC29A3):c.1347G>A (p.Thr449=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000978966] Chr10:71362527 [GRCh38]
Chr10:73122284 [GRCh37]
Chr10:10q22.1
likely benign|conflicting interpretations of pathogenicity
NM_015087.5(SPART):c.1172A>G (p.Asp391Gly) single nucleotide variant not provided [RCV001640906] Chr10:71323288 [GRCh38]
Chr10:73083045 [GRCh37]
Chr10:10q22.1
benign
NM_018344.6(SLC29A3):c.113G>A (p.Arg38His) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001066552] Chr10:71322867 [GRCh38]
Chr10:73082624 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.650T>C (p.Leu217Ser) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001066665] Chr10:71356120 [GRCh38]
Chr10:73115877 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.774-6C>T single nucleotide variant not provided [RCV000883351] Chr10:71361948 [GRCh38]
Chr10:73121705 [GRCh37]
Chr10:10q22.1
benign
NM_018344.6(SLC29A3):c.804T>C (p.His268=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001102753]|not provided [RCV000927634] Chr10:71361984 [GRCh38]
Chr10:73121741 [GRCh37]
Chr10:10q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018344.6(SLC29A3):c.640G>A (p.Val214Met) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000879275] Chr10:71356110 [GRCh38]
Chr10:73115867 [GRCh37]
Chr10:10q22.1
benign|likely benign
NM_018344.6(SLC29A3):c.1294C>T (p.Leu432=) single nucleotide variant not provided [RCV000937500] Chr10:71362474 [GRCh38]
Chr10:73122231 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.987C>T (p.Asn329=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000880516] Chr10:71362167 [GRCh38]
Chr10:73121924 [GRCh37]
Chr10:10q22.1
likely benign|conflicting interpretations of pathogenicity
NM_018344.6(SLC29A3):c.193C>T (p.Leu65=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000952606] Chr10:71322947 [GRCh38]
Chr10:73082704 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.339G>A (p.Val113=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001429249]|not provided [RCV000977147] Chr10:71344247 [GRCh38]
Chr10:73104004 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.1137C>T (p.Leu379=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000895392] Chr10:71362317 [GRCh38]
Chr10:73122074 [GRCh37]
Chr10:10q22.1
benign
NM_018344.6(SLC29A3):c.1134G>A (p.Ala378=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000907838] Chr10:71362314 [GRCh38]
Chr10:73122071 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.719T>G (p.Phe240Cys) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000817402] Chr10:71356189 [GRCh38]
Chr10:73115946 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.517G>A (p.Val173Met) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000810764] Chr10:71351695 [GRCh38]
Chr10:73111452 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.798G>A (p.Ala266=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000819659] Chr10:71361978 [GRCh38]
Chr10:73121735 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.334A>G (p.Thr112Ala) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000893376] Chr10:71344242 [GRCh38]
Chr10:73103999 [GRCh37]
Chr10:10q22.1
benign
NM_018344.6(SLC29A3):c.629C>T (p.Thr210Met) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000807867] Chr10:71356099 [GRCh38]
Chr10:73115856 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.1010C>T (p.Ser337Leu) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000808166] Chr10:71362190 [GRCh38]
Chr10:73121947 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.914_915delinsTC (p.Thr305Ile) indel Histiocytosis-lymphadenopathy plus syndrome [RCV000812250] Chr10:71362094..71362095 [GRCh38]
Chr10:73121851..73121852 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.984del (p.Asn329fs) deletion Histiocytosis-lymphadenopathy plus syndrome [RCV000822325] Chr10:71362163 [GRCh38]
Chr10:73121920 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_018344.6(SLC29A3):c.366C>A (p.Asn122Lys) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000816914] Chr10:71344274 [GRCh38]
Chr10:73104031 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.770C>G (p.Ala257Gly) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000800534] Chr10:71356240 [GRCh38]
Chr10:73115997 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.420G>A (p.Thr140=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000811598] Chr10:71351598 [GRCh38]
Chr10:73111355 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.424A>G (p.Ile142Val) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000810726] Chr10:71351602 [GRCh38]
Chr10:73111359 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.1373G>A (p.Cys458Tyr) single nucleotide variant not provided [RCV000994436] Chr10:71362553 [GRCh38]
Chr10:73122310 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.800C>A (p.Ala267Asp) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000807094]|not provided [RCV001090810] Chr10:71361980 [GRCh38]
Chr10:73121737 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.269C>T (p.Thr90Ile) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000818619]|not provided [RCV001093314] Chr10:71323023 [GRCh38]
Chr10:73082780 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.383+7_383+8delinsAG indel Histiocytosis-lymphadenopathy plus syndrome [RCV000917970] Chr10:71344298..71344299 [GRCh38]
Chr10:73104055..73104056 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.243del (p.Lys81fs) deletion Histiocytosis-lymphadenopathy plus syndrome [RCV000023940]|not provided [RCV000788967] Chr10:71322995 [GRCh38]
Chr10:73082752 [GRCh37]
Chr10:10q22.1
pathogenic
NM_018344.6(SLC29A3):c.611-1G>T single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000816718] Chr10:71356080 [GRCh38]
Chr10:73115837 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_018344.6(SLC29A3):c.484C>T (p.Arg162Cys) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000817156] Chr10:71351662 [GRCh38]
Chr10:73111419 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.1180G>A (p.Val394Met) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000820707] Chr10:71362360 [GRCh38]
Chr10:73122117 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.570C>T (p.Thr190=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001483801]|not provided [RCV000920594] Chr10:71351748 [GRCh38]
Chr10:73111505 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.872T>C (p.Ile291Thr) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001065349] Chr10:71362052 [GRCh38]
Chr10:73121809 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.708G>A (p.Thr236=) single nucleotide variant not provided [RCV000994434] Chr10:71356178 [GRCh38]
Chr10:73115935 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.225G>A (p.Lys75=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001242461] Chr10:71322979 [GRCh38]
Chr10:73082736 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.1133C>T (p.Ala378Val) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001242909] Chr10:71362313 [GRCh38]
Chr10:73122070 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.145C>T (p.Arg49Cys) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001209538] Chr10:71322899 [GRCh38]
Chr10:73082656 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.971C>T (p.Pro324Leu) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001237894] Chr10:71362151 [GRCh38]
Chr10:73121908 [GRCh37]
Chr10:10q22.1
likely pathogenic
NM_018344.6(SLC29A3):c.59C>G (p.Thr20Arg) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001206948] Chr10:71322813 [GRCh38]
Chr10:73082570 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.605T>C (p.Ile202Thr) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001225386] Chr10:71351783 [GRCh38]
Chr10:73111540 [GRCh37]
Chr10:10q22.1
uncertain significance
GRCh37/hg19 10q22.1(chr10:73047984-73385448)x3 copy number gain not provided [RCV000847114] Chr10:73047984..73385448 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.*384C>T single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001108079] Chr10:71362992 [GRCh38]
Chr10:73122749 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.1017A>G (p.Ser339=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001105840] Chr10:71362197 [GRCh38]
Chr10:73121954 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001595493] Chr10:71319390 [GRCh38]
Chr10:73079147 [GRCh37]
Chr10:10q22.1
benign
NM_018344.6(SLC29A3):c.1380C>T (p.Gly460=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001394083]|not provided [RCV000930510] Chr10:71362560 [GRCh38]
Chr10:73122317 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.301-6T>C single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000886179] Chr10:71344203 [GRCh38]
Chr10:73103960 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.972C>T (p.Pro324=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV000888822] Chr10:71362152 [GRCh38]
Chr10:73121909 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.159A>T (p.Thr53=) single nucleotide variant not provided [RCV000887077] Chr10:71322913 [GRCh38]
Chr10:73082670 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.874G>C (p.Asp292His) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001244325] Chr10:71362054 [GRCh38]
Chr10:73121811 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.530G>A (p.Gly177Asp) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001107985] Chr10:71351708 [GRCh38]
Chr10:73111465 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.*111A>G single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001108075] Chr10:71362719 [GRCh38]
Chr10:73122476 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.*321C>G single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001108077] Chr10:71362929 [GRCh38]
Chr10:73122686 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.*379A>G single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001108078] Chr10:71362987 [GRCh38]
Chr10:73122744 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.122del (p.Pro41fs) deletion Histiocytosis-lymphadenopathy plus syndrome [RCV001169953] Chr10:71322872 [GRCh38]
Chr10:73082629 [GRCh37]
Chr10:10q22.1
pathogenic
NM_018344.6(SLC29A3):c.464T>C (p.Val155Ala) single nucleotide variant not provided [RCV001090809] Chr10:71351642 [GRCh38]
Chr10:73111399 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.770C>T (p.Ala257Val) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001221626] Chr10:71356240 [GRCh38]
Chr10:73115997 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.1290C>T (p.Ser430=) single nucleotide variant not provided [RCV000911447] Chr10:71362470 [GRCh38]
Chr10:73122227 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.474C>T (p.Ser158=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001485210]|not provided [RCV000934889] Chr10:71351652 [GRCh38]
Chr10:73111409 [GRCh37]
Chr10:10q22.1
likely benign
null single nucleotide variant not provided [RCV001637138] Chr10:71344421 [GRCh38]
Chr10:73104178 [GRCh37]
Chr10:10q22.1
benign
null single nucleotide variant not provided [RCV001637516] Chr10:71351501 [GRCh38]
Chr10:73111258 [GRCh37]
Chr10:10q22.1
benign
NM_018344.6(SLC29A3):c.1006G>A (p.Gly336Ser) single nucleotide variant not provided [RCV000994435] Chr10:71362186 [GRCh38]
Chr10:73121943 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, single nucleotide variant not provided [RCV001639599] Chr10:71361834 [GRCh38]
Chr10:73121591 [GRCh37]
Chr10:10q22.1
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001688573] Chr10:71319105 [GRCh38]
Chr10:73078862 [GRCh37]
Chr10:10q22.1
benign
null single nucleotide variant not provided [RCV001637872] Chr10:71319545 [GRCh38]
Chr10:73079302 [GRCh37]
Chr10:10q22.1
benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant not provided [RCV001678567] Chr10:71351220 [GRCh38]
Chr10:73110977 [GRCh37]
Chr10:10q22.1
benign
NM_018344.6(SLC29A3):c.138C>T (p.Pro46=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001104579] Chr10:71322892 [GRCh38]
Chr10:73082649 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.-7C>T single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001102665] Chr10:71319303 [GRCh38]
Chr10:73079060 [GRCh37]
Chr10:10q22.1
benign
NM_018344.6(SLC29A3):c.*220A>G single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001108076] Chr10:71362828 [GRCh38]
Chr10:73122585 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.139G>T (p.Glu47Ter) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001069573] Chr10:71322893 [GRCh38]
Chr10:73082650 [GRCh37]
Chr10:10q22.1
pathogenic
NM_018344.6(SLC29A3):c.914C>T (p.Thr305Met) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001071698] Chr10:71362094 [GRCh38]
Chr10:73121851 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.674A>G (p.Asp225Gly) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001042265] Chr10:71356144 [GRCh38]
Chr10:73115901 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.18G>A (p.Glu6=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001247985] Chr10:71322772 [GRCh38]
Chr10:73082529 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.1124A>G (p.Asn375Ser) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001070191] Chr10:71362304 [GRCh38]
Chr10:73122061 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.303_320dup (p.Tyr102_Leu107dup) duplication Histiocytosis-lymphadenopathy plus syndrome [RCV001202556] Chr10:71344210..71344211 [GRCh38]
Chr10:73103967..73103968 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.116C>T (p.Pro39Leu) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001208217] Chr10:71322870 [GRCh38]
Chr10:73082627 [GRCh37]
Chr10:10q22.1
uncertain significance
NC_000010.11:g.(?_71288568)_(71617480_?)dup duplication not provided [RCV001033062] Chr10:73048325..73377237 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.*744G>A single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001102864] Chr10:71363352 [GRCh38]
Chr10:73123109 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.624C>T (p.Gly208=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001107986] Chr10:71356094 [GRCh38]
Chr10:73115851 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.743A>G (p.Tyr248Cys) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001055788] Chr10:71356213 [GRCh38]
Chr10:73115970 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.1135C>T (p.Leu379Phe) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001063083] Chr10:71362315 [GRCh38]
Chr10:73122072 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.219T>C (p.Thr73=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001104580] Chr10:71322973 [GRCh38]
Chr10:73082730 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.242A>G (p.Lys81Arg) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001048715] Chr10:71322996 [GRCh38]
Chr10:73082753 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.*755G>A single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001104788] Chr10:71363363 [GRCh38]
Chr10:73123120 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.300+5G>A single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001214266] Chr10:71323059 [GRCh38]
Chr10:73082816 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.737G>A (p.Gly246Glu) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001340883] Chr10:71356207 [GRCh38]
Chr10:73115964 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.508G>C (p.Val170Leu) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001327174] Chr10:71351686 [GRCh38]
Chr10:73111443 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.587G>A (p.Arg196Lys) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001342971] Chr10:71351765 [GRCh38]
Chr10:73111522 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.395A>G (p.His132Arg) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001349779] Chr10:71351573 [GRCh38]
Chr10:73111330 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.723C>T (p.Leu241=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001414677] Chr10:71356193 [GRCh38]
Chr10:73115950 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.1235A>G (p.Asp412Gly) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001363056] Chr10:71362415 [GRCh38]
Chr10:73122172 [GRCh37]
Chr10:10q22.1
uncertain significance
NC_000010.10:g.(?_73079047)_(73079087_?)del deletion Histiocytosis-lymphadenopathy plus syndrome [RCV001383363] Chr10:73079047..73079087 [GRCh37]
Chr10:10q22.1
pathogenic
NM_018344.6(SLC29A3):c.1135C>G (p.Leu379Val) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001299142] Chr10:71362315 [GRCh38]
Chr10:73122072 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.506T>C (p.Ile169Thr) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001352081] Chr10:71351684 [GRCh38]
Chr10:73111441 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.5C>T (p.Ala2Val) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001318775] Chr10:71322759 [GRCh38]
Chr10:73082516 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.799G>A (p.Ala267Thr) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001323522] Chr10:71361979 [GRCh38]
Chr10:73121736 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.1292C>T (p.Thr431Ile) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001364483] Chr10:71362472 [GRCh38]
Chr10:73122229 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.1142G>C (p.Gly381Ala) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001319771] Chr10:71362322 [GRCh38]
Chr10:73122079 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.676G>T (p.Val226Leu) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001359818] Chr10:71356146 [GRCh38]
Chr10:73115903 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.1147G>C (p.Val383Leu) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001325449] Chr10:71362327 [GRCh38]
Chr10:73122084 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.1285C>A (p.Leu429Ile) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001340370] Chr10:71362465 [GRCh38]
Chr10:73122222 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.529G>A (p.Gly177Ser) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001341013] Chr10:71351707 [GRCh38]
Chr10:73111464 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.637G>A (p.Ala213Thr) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001297604] Chr10:71356107 [GRCh38]
Chr10:73115864 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.112C>T (p.Arg38Cys) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001325992] Chr10:71322866 [GRCh38]
Chr10:73082623 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.1121C>T (p.Pro374Leu) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001294843] Chr10:71362301 [GRCh38]
Chr10:73122058 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.89C>T (p.Ala30Val) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001359602] Chr10:71322843 [GRCh38]
Chr10:73082600 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.431C>G (p.Ala144Gly) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001370117] Chr10:71351609 [GRCh38]
Chr10:73111366 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.713_715del (p.Thr238_Val239delinsIle) deletion Histiocytosis-lymphadenopathy plus syndrome [RCV001294944] Chr10:71356183..71356185 [GRCh38]
Chr10:73115940..73115942 [GRCh37]
Chr10:10q22.1
uncertain significance
NM_018344.6(SLC29A3):c.454C>T (p.Leu152=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001402624] Chr10:71351632 [GRCh38]
Chr10:73111389 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.177C>T (p.Ser59=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001505930] Chr10:71322931 [GRCh38]
Chr10:73082688 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.120C>T (p.Pro40=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001398387] Chr10:71322874 [GRCh38]
Chr10:73082631 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.1278C>T (p.Asn426=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001500988] Chr10:71362458 [GRCh38]
Chr10:73122215 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.1326C>T (p.Pro442=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001461101] Chr10:71362506 [GRCh38]
Chr10:73122263 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.1419C>T (p.His473=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001505276] Chr10:71362599 [GRCh38]
Chr10:73122356 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.1269G>A (p.Gly423=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001467876] Chr10:71362449 [GRCh38]
Chr10:73122206 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.324C>T (p.Ala108=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001430304] Chr10:71344232 [GRCh38]
Chr10:73103989 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.1011G>A (p.Ser337=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001449278] Chr10:71362191 [GRCh38]
Chr10:73121948 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.774-13C>T single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001449466] Chr10:71361941 [GRCh38]
Chr10:73121698 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.144C>T (p.Asp48=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001408773] Chr10:71322898 [GRCh38]
Chr10:73082655 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.111C>T (p.Asp37=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001408661] Chr10:71322865 [GRCh38]
Chr10:73082622 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.1173C>T (p.Pro391=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001409107] Chr10:71362353 [GRCh38]
Chr10:73122110 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.270C>T (p.Thr90=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001454359] Chr10:71323024 [GRCh38]
Chr10:73082781 [GRCh37]
Chr10:10q22.1
likely benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001686641] Chr10:71319472 [GRCh38]
Chr10:73079229 [GRCh37]
Chr10:10q22.1
benign
NM_018344.6(SLC29A3):c.165C>T (p.Ile55=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001502543] Chr10:71322919 [GRCh38]
Chr10:73082676 [GRCh37]
Chr10:10q22.1
likely benign
null single nucleotide variant not provided [RCV001669787] Chr10:71361888 [GRCh38]
Chr10:73121645 [GRCh37]
Chr10:10q22.1
benign
NM_018344.6(SLC29A3):c.630G>A (p.Thr210=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001453777] Chr10:71356100 [GRCh38]
Chr10:73115857 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.465G>A (p.Val155=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001513326] Chr10:71351643 [GRCh38]
Chr10:73111400 [GRCh37]
Chr10:10q22.1
benign
NM_018344.6(SLC29A3):c.1098C>T (p.Thr366=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001438256] Chr10:71362278 [GRCh38]
Chr10:73122035 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.1233C>T (p.Ser411=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001438280] Chr10:71362413 [GRCh38]
Chr10:73122170 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.21C>T (p.Asp7=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001425906] Chr10:71322775 [GRCh38]
Chr10:73082532 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.751C>T (p.Leu251=) single nucleotide variant Histiocytosis-lymphadenopathy plus syndrome [RCV001471746] Chr10:71356221 [GRCh38]
Chr10:73115978 [GRCh37]
Chr10:10q22.1
likely benign
NM_018344.6(SLC29A3):c.269_275del (p.Thr90fs) deletion Histiocytosis-lymphadenopathy plus syndrome [RCV001380759] Chr10:71323022..71323028 [GRCh38]
Chr10:73082779..73082785 [GRCh37]
Chr10:10q22.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23096 AgrOrtholog
COSMIC SLC29A3 COSMIC
Ensembl Genes ENSG00000198246 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000362285 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000493872 UniProtKB/TrEMBL
  ENSP00000493995 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000494066 UniProtKB/TrEMBL
  ENSP00000494378 UniProtKB/TrEMBL
  ENSP00000494827 UniProtKB/TrEMBL
  ENSP00000495000 UniProtKB/TrEMBL
  ENSP00000495041 UniProtKB/TrEMBL
  ENSP00000495077 UniProtKB/TrEMBL
  ENSP00000495859 UniProtKB/TrEMBL
  ENSP00000496664 UniProtKB/TrEMBL
  ENSP00000496674 UniProtKB/TrEMBL
Ensembl Transcript ENST00000373189 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000479577 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000642198 UniProtKB/TrEMBL
  ENST00000642772 UniProtKB/TrEMBL
  ENST00000643042 UniProtKB/TrEMBL
  ENST00000643619 UniProtKB/TrEMBL
  ENST00000643752 UniProtKB/TrEMBL
  ENST00000644088 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000644591 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000644895 UniProtKB/TrEMBL
  ENST00000645345 UniProtKB/TrEMBL
  ENST00000647524 UniProtKB/TrEMBL
GTEx ENSG00000198246 GTEx
HGNC ID HGNC:23096 ENTREZGENE
Human Proteome Map SLC29A3 Human Proteome Map
InterPro ENT3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Eqnu_transpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55315 UniProtKB/Swiss-Prot
NCBI Gene 55315 ENTREZGENE
OMIM 602782 OMIM
  612373 OMIM
PANTHER PTHR10332 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10332:SF17 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Nucleoside_tran UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134950750 PharmGKB
PIRSF ENT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS DERENTRNSPRT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y4B7_HUMAN UniProtKB/TrEMBL
  A0A2R8Y4I0_HUMAN UniProtKB/TrEMBL
  A0A2R8Y5R8_HUMAN UniProtKB/TrEMBL
  A0A2R8Y5U2_HUMAN UniProtKB/TrEMBL
  A0A2R8Y657_HUMAN UniProtKB/TrEMBL
  A0A2R8Y863_HUMAN UniProtKB/TrEMBL
  A0A2R8YDA4_HUMAN UniProtKB/TrEMBL
  A0A2R8YDR8_HUMAN UniProtKB/TrEMBL
  A0A2R8YGC2_HUMAN UniProtKB/TrEMBL
  Q9BZD2 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2RB50 UniProtKB/Swiss-Prot
  B4E2Z9 UniProtKB/Swiss-Prot
  B7ZA37 UniProtKB/Swiss-Prot
  Q0VAM9 UniProtKB/Swiss-Prot
  Q5T465 UniProtKB/Swiss-Prot
  Q7RTT8 UniProtKB/Swiss-Prot
  Q8IVZ0 UniProtKB/Swiss-Prot
  Q9BWI2 UniProtKB/Swiss-Prot
  Q9NUS9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-08 SLC29A3  solute carrier family 29 member 3    solute carrier family 29 (equilibrative nucleoside transporter), member 3  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC29A3  solute carrier family 29 (equilibrative nucleoside transporter), member 3    solute carrier family 29 (nucleoside transporters), member 3  Symbol and/or name change 5135510 APPROVED