RARS1 (arginyl-tRNA synthetase 1) - Rat Genome Database

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Gene: RARS1 (arginyl-tRNA synthetase 1) Homo sapiens
Analyze
Symbol: RARS1
Name: arginyl-tRNA synthetase 1
RGD ID: 1319432
HGNC Page HGNC:9870
Description: Enables arginine-tRNA ligase activity. Involved in arginyl-tRNA aminoacylation. Located in cytosol; nucleolus; and nucleoplasm. Part of aminoacyl-tRNA synthetase multienzyme complex. Implicated in hypomyelinating leukodystrophy 9.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: arginine tRNA ligase 1, cytoplasmic; arginine--tRNA ligase; arginine--tRNA ligase, cytoplasmic; arginyl-tRNA synthetase; arginyl-tRNA synthetase, cytoplasmic; ArgRS; DALRD1; HLD9; MGC8641; RARS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: RARS1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385168,486,471 - 168,519,301 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5168,486,451 - 168,519,301 (+)EnsemblGRCh38hg38GRCh38
GRCh375167,913,476 - 167,946,306 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365167,846,041 - 167,878,889 (+)NCBINCBI36Build 36hg18NCBI36
Build 345167,846,040 - 167,878,885NCBI
Celera5163,948,808 - 163,981,683 (+)NCBICelera
Cytogenetic Map5q34NCBI
HuRef5163,012,238 - 163,045,058 (+)NCBIHuRef
CHM1_15167,346,530 - 167,379,378 (+)NCBICHM1_1
T2T-CHM13v2.05169,021,262 - 169,054,094 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dimethoxyphenol  (EXP)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3-chloropropane-1,2-diol  (ISO)
actinomycin D  (EXP)
all-trans-retinoic acid  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
azoxystrobin  (ISO)
benzo[a]pyrene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP)
Brodifacoum  (ISO)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
casticin  (ISO)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
chromium(6+)  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
DDE  (EXP)
Di-n-octyl phthalate  (ISO)
diarsenic trioxide  (EXP)
dicrotophos  (EXP)
diuron  (ISO)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
flutamide  (ISO)
furfural  (EXP)
gentamycin  (ISO)
glyphosate  (ISO)
hydrogen peroxide  (EXP)
imidacloprid  (ISO)
ivermectin  (EXP)
lead diacetate  (ISO)
lead(0)  (EXP)
maneb  (ISO)
methylparaben  (EXP)
nefazodone  (ISO)
Nutlin-3  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
potassium chromate  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
sodium chloride  (EXP)
sodium dichromate  (ISO)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
thiabendazole  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trimellitic anhydride  (ISO)
valproic acid  (ISO)
zearalenone  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

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
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:562050   PMID:1651330   PMID:6530022   PMID:7590355   PMID:8052601   PMID:8078941   PMID:8125298   PMID:8188258   PMID:8449960   PMID:8889548   PMID:9278442   PMID:9556618  
PMID:9878398   PMID:10358004   PMID:10791971   PMID:10801842   PMID:10913161   PMID:11714285   PMID:12477932   PMID:12665801   PMID:15489334   PMID:16055448   PMID:16196087   PMID:16344560  
PMID:17353931   PMID:17443684   PMID:18029348   PMID:18781797   PMID:19056867   PMID:19131329   PMID:19289464   PMID:19380743   PMID:19738201   PMID:19946888   PMID:20877624   PMID:20923763  
PMID:21081503   PMID:21081666   PMID:21139048   PMID:21145461   PMID:21150319   PMID:21844884   PMID:21873635   PMID:21890473   PMID:21906983   PMID:21963094   PMID:21987572   PMID:22053931  
PMID:22190034   PMID:22268729   PMID:22863883   PMID:22939629   PMID:23000965   PMID:23125841   PMID:23349634   PMID:23376485   PMID:23443559   PMID:23956138   PMID:24147044   PMID:24457600  
PMID:24656866   PMID:24711643   PMID:24777941   PMID:24816145   PMID:24859084   PMID:24898251   PMID:25010285   PMID:25288775   PMID:25437307   PMID:25468996   PMID:25724651   PMID:25756610  
PMID:25921289   PMID:25940091   PMID:25963833   PMID:26186194   PMID:26344197   PMID:26472760   PMID:26496610   PMID:26549023   PMID:26618866   PMID:26725010   PMID:26831064   PMID:27025967  
PMID:27377895   PMID:27432908   PMID:27462432   PMID:27591049   PMID:27684187   PMID:28431233   PMID:28514442   PMID:28515276   PMID:28533407   PMID:28581483   PMID:28685749   PMID:28712289  
PMID:28869606   PMID:28902428   PMID:28905880   PMID:28986522   PMID:29117863   PMID:29128334   PMID:29133573   PMID:29180619   PMID:29229926   PMID:29298432   PMID:29331416   PMID:29467282  
PMID:29478914   PMID:29507755   PMID:29509190   PMID:29615496   PMID:29676528   PMID:29845934   PMID:30006346   PMID:30021884   PMID:30097533   PMID:30196744   PMID:30425250   PMID:30455355  
PMID:30463901   PMID:30575818   PMID:30619736   PMID:30711629   PMID:30737378   PMID:30745168   PMID:30884312   PMID:30948266   PMID:31048545   PMID:31059266   PMID:31073040   PMID:31091453  
PMID:31300519   PMID:31324722   PMID:31409639   PMID:31478661   PMID:31527615   PMID:31536960   PMID:31586073   PMID:31620119   PMID:31792442   PMID:31814314   PMID:31980649   PMID:31995728  
PMID:32129710   PMID:32176739   PMID:32296183   PMID:32382008   PMID:32460013   PMID:32552912   PMID:32786267   PMID:32807901   PMID:32850835   PMID:32929329   PMID:32994395   PMID:33022573  
PMID:33024031   PMID:33144569   PMID:33226137   PMID:33239621   PMID:33397691   PMID:33472061   PMID:33515434   PMID:33545068   PMID:33567341   PMID:33658012   PMID:33853758   PMID:33961781  
PMID:34133714   PMID:34189442   PMID:34316702   PMID:34373451   PMID:34445801   PMID:34709727   PMID:34718347   PMID:34728620   PMID:34732716   PMID:34901782   PMID:35032548   PMID:35140242  
PMID:35235311   PMID:35256949   PMID:35271311   PMID:35338135   PMID:35384245   PMID:35439318   PMID:35446349   PMID:35509820   PMID:35546148   PMID:35562734   PMID:35563538   PMID:35652658  
PMID:35676659   PMID:35687106   PMID:35777956   PMID:35819319   PMID:35831314   PMID:35944360   PMID:36057605   PMID:36114006   PMID:36168627   PMID:36180527   PMID:36215168   PMID:36244648  
PMID:36261009   PMID:36282215   PMID:36347866   PMID:36424410   PMID:36517590   PMID:36526897   PMID:36574265   PMID:36652389   PMID:36779763   PMID:36912080   PMID:37059091   PMID:37071682  
PMID:37120454   PMID:37223481   PMID:37314180   PMID:37314216   PMID:37317656   PMID:37536630   PMID:37827155   PMID:38113892   PMID:38280479   PMID:39147351  


Genomics

Comparative Map Data
RARS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385168,486,471 - 168,519,301 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5168,486,451 - 168,519,301 (+)EnsemblGRCh38hg38GRCh38
GRCh375167,913,476 - 167,946,306 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365167,846,041 - 167,878,889 (+)NCBINCBI36Build 36hg18NCBI36
Build 345167,846,040 - 167,878,885NCBI
Celera5163,948,808 - 163,981,683 (+)NCBICelera
Cytogenetic Map5q34NCBI
HuRef5163,012,238 - 163,045,058 (+)NCBIHuRef
CHM1_15167,346,530 - 167,379,378 (+)NCBICHM1_1
T2T-CHM13v2.05169,021,262 - 169,054,094 (+)NCBIT2T-CHM13v2.0
Rars1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391135,699,207 - 35,725,355 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1135,699,208 - 35,725,333 (-)EnsemblGRCm39 Ensembl
GRCm381135,808,381 - 35,834,528 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1135,808,381 - 35,834,506 (-)EnsemblGRCm38mm10GRCm38
MGSCv371135,621,883 - 35,648,030 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361135,651,806 - 35,677,929 (-)NCBIMGSCv36mm8
Celera1139,591,462 - 39,617,635 (-)NCBICelera
Cytogenetic Map11A4NCBI
cM Map1121.96NCBI
Rars1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81020,774,804 - 20,799,251 (-)NCBIGRCr8
mRatBN7.21020,270,744 - 20,295,192 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1020,270,483 - 20,295,196 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1025,021,858 - 25,046,283 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01024,510,383 - 24,534,811 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01019,994,537 - 20,018,847 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01020,633,630 - 20,658,074 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1020,633,632 - 20,658,100 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01020,505,807 - 20,530,334 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41020,721,170 - 20,745,484 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11020,722,223 - 20,746,536 (-)NCBI
Celera1019,889,464 - 19,913,910 (-)NCBICelera
Cytogenetic Map10q12NCBI
Rars1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495540821,536,426 - 21,574,683 (+)NCBIChiLan1.0ChiLan1.0
RARS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24163,649,100 - 163,682,236 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15161,788,645 - 161,821,781 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05163,851,644 - 163,884,787 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15170,616,819 - 170,649,655 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5170,616,819 - 170,649,655 (+)Ensemblpanpan1.1panPan2
RARS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1443,237,499 - 43,260,738 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl443,237,499 - 43,260,677 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha443,193,938 - 43,217,200 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0443,659,249 - 43,682,521 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl443,650,992 - 43,682,460 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1443,428,969 - 43,452,203 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0443,623,543 - 43,646,768 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0444,129,367 - 44,152,642 (-)NCBIUU_Cfam_GSD_1.0
Rars1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721397,268,905 - 97,302,352 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936622884,423 - 918,650 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936622884,324 - 917,964 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RARS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1655,373,727 - 55,412,112 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11655,373,739 - 55,412,076 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21659,959,187 - 59,972,120 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RARS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12370,711,435 - 70,746,000 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2370,711,016 - 70,745,884 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660347,934,274 - 7,970,520 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rars1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473321,487,847 - 21,535,797 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473321,487,847 - 21,535,487 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RARS1
294 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3
pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|See cases [RCV000051865] Chr5:160029980..181269805 [GRCh38]
Chr5:159456987..180696806 [GRCh37]
Chr5:159389565..180629412 [NCBI36]
Chr5:5q33.3-35.3
pathogenic
GRCh38/hg38 5q34-35.1(chr5:166371405-171390034)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052148]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052148]|See cases [RCV000052148] Chr5:166371405..171390034 [GRCh38]
Chr5:165798410..170817038 [GRCh37]
Chr5:165730988..170749643 [NCBI36]
Chr5:5q34-35.1
pathogenic
NM_002887.4(RARS1):c.1453-17T>G single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV002491247]|not provided [RCV002232570]|not specified [RCV000603039] Chr5:168516761 [GRCh38]
Chr5:167943766 [GRCh37]
Chr5:5q34
benign|likely benign
NM_002887.4(RARS1):c.1535G>A (p.Arg512Gln) single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV000149502]|not provided [RCV002228538] Chr5:168516860 [GRCh38]
Chr5:167943865 [GRCh37]
Chr5:5q34
pathogenic|likely pathogenic
NM_002887.4(RARS1):c.1A>G (p.Met1Val) single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV000149501]|not provided [RCV000314506] Chr5:168486499 [GRCh38]
Chr5:167913504 [GRCh37]
Chr5:5q34
pathogenic
NM_002887.3(RARS):c.1441G>A (p.Glu481Lys) single nucleotide variant Malignant melanoma [RCV000061207] Chr5:168510675 [GRCh38]
Chr5:167937680 [GRCh37]
Chr5:167870258 [NCBI36]
Chr5:5q34
not provided
NM_002887.4(RARS1):c.5A>G (p.Asp2Gly) single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV000149498]|not provided [RCV002228537] Chr5:168486503 [GRCh38]
Chr5:167913508 [GRCh37]
Chr5:5q34
pathogenic
NM_002887.4(RARS1):c.45+1G>T single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV000149499] Chr5:168486544 [GRCh38]
Chr5:167913549 [GRCh37]
Chr5:5q34
pathogenic
NM_002887.4(RARS1):c.96_97del (p.Cys32fs) microsatellite Hypomyelinating leukodystrophy 9 [RCV000149500] Chr5:168488650..168488651 [GRCh38]
Chr5:167915655..167915656 [GRCh37]
Chr5:5q34
pathogenic
NM_002887.4(RARS1):c.793C>T (p.Pro265Ser) single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV001332194]|Inborn genetic diseases [RCV004656529] Chr5:168497319 [GRCh38]
Chr5:167924324 [GRCh37]
Chr5:5q34
likely benign|uncertain significance
NM_002887.4(RARS1):c.1057+279del deletion not provided [RCV001564752] Chr5:168502384 [GRCh38]
Chr5:167929389 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1846_1847del (p.Tyr616fs) deletion Hypomyelinating leukodystrophy 9 [RCV000256225] Chr5:168518035..168518036 [GRCh38]
Chr5:167945040..167945041 [GRCh37]
Chr5:5q34
pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3 copy number gain See cases [RCV000133847] Chr5:156825512..181269805 [GRCh38]
Chr5:156252523..180696806 [GRCh37]
Chr5:156185101..180629412 [NCBI36]
Chr5:5q33.3-35.3
pathogenic
GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3 copy number gain See cases [RCV000135546] Chr5:164386701..181269805 [GRCh38]
Chr5:163813707..180696806 [GRCh37]
Chr5:163746285..180629412 [NCBI36]
Chr5:5q34-35.3
pathogenic
GRCh38/hg38 5q34-35.1(chr5:168234662-169027391)x3 copy number gain See cases [RCV000137176] Chr5:168234662..169027391 [GRCh38]
Chr5:167661667..168454396 [GRCh37]
Chr5:167594245..168386974 [NCBI36]
Chr5:5q34-35.1
likely benign|uncertain significance
GRCh38/hg38 5q34-35.1(chr5:168433412-171417179)x1 copy number loss See cases [RCV000140907] Chr5:168433412..171417179 [GRCh38]
Chr5:167860417..170844183 [GRCh37]
Chr5:167792995..170776788 [NCBI36]
Chr5:5q34-35.1
uncertain significance
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu) single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV000256219]|Inborn genetic diseases [RCV004021037]|not provided [RCV001532053] Chr5:168510601 [GRCh38]
Chr5:167937606 [GRCh37]
Chr5:5q34
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_002887.3:c.1846-1847delTA deletion Leukodystrophy, hypomyelinating, 9 [RCV000256225] Chr5:5q34 pathogenic
GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1 copy number loss See cases [RCV000240059] Chr5:154886174..169757448 [GRCh37]
Chr5:5q33.2-35.1
pathogenic
NM_002887.4(RARS1):c.2T>A (p.Met1Lys) single nucleotide variant not provided [RCV000579090] Chr5:168486500 [GRCh38]
Chr5:167913505 [GRCh37]
Chr5:5q34
pathogenic
NM_002887.4(RARS1):c.1443_1446del (p.Arg482fs) microsatellite Inborn genetic diseases [RCV004659018]|not provided [RCV000413106] Chr5:168510672..168510675 [GRCh38]
Chr5:167937677..167937680 [GRCh37]
Chr5:5q34
pathogenic
GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)x1 copy number loss See cases [RCV000447112] Chr5:164207156..172799124 [GRCh37]
Chr5:5q34-35.1
pathogenic
NM_002887.4(RARS1):c.243A>G (p.Gln81=) single nucleotide variant not provided [RCV001513705]|not specified [RCV000438227] Chr5:168492721 [GRCh38]
Chr5:167919726 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.9A>G (p.Val3=) single nucleotide variant not specified [RCV000441800] Chr5:168486507 [GRCh38]
Chr5:167913512 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.7G>A (p.Val3Ile) single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV000986120]|not provided [RCV001511711]|not specified [RCV000427919] Chr5:168486505 [GRCh38]
Chr5:167913510 [GRCh37]
Chr5:5q34
benign
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
NM_002887.4(RARS1):c.19G>C (p.Glu7Gln) single nucleotide variant not provided [RCV002283074] Chr5:168486517 [GRCh38]
Chr5:167913522 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.3(RARS1):c.-45C>A single nucleotide variant not specified [RCV000427552] Chr5:168486454 [GRCh38]
Chr5:167913459 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1497G>A (p.Ala499=) single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV001796040]|not provided [RCV001511712]|not specified [RCV000424065] Chr5:168516822 [GRCh38]
Chr5:167943827 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1190T>A (p.Phe397Tyr) single nucleotide variant not provided [RCV001513710]|not specified [RCV000428034] Chr5:168506153 [GRCh38]
Chr5:167933158 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1188A>G (p.Leu396=) single nucleotide variant not provided [RCV001513709]|not specified [RCV000418252] Chr5:168506151 [GRCh38]
Chr5:167933156 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1239T>G (p.Ser413=) single nucleotide variant RARS1-related disorder [RCV003972650]|not provided [RCV002522409]|not specified [RCV000418449] Chr5:168506724 [GRCh38]
Chr5:167933729 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1236+11A>G single nucleotide variant not provided [RCV001515838]|not specified [RCV000438722] Chr5:168506210 [GRCh38]
Chr5:167933215 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1092A>G (p.Val364=) single nucleotide variant not provided [RCV001513708]|not specified [RCV000438930] Chr5:168506055 [GRCh38]
Chr5:167933060 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1428G>A (p.Lys476=) single nucleotide variant not specified [RCV000421815] Chr5:168510662 [GRCh38]
Chr5:167937667 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1368G>A (p.Ser456=) single nucleotide variant not provided [RCV001521047]|not specified [RCV000432208] Chr5:168510602 [GRCh38]
Chr5:167937607 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1917A>G (p.Glu639=) single nucleotide variant not provided [RCV001704527] Chr5:168519124 [GRCh38]
Chr5:167946129 [GRCh37]
Chr5:5q34
benign|likely benign
NM_002887.4(RARS1):c.701+20G>A single nucleotide variant not provided [RCV002230254]|not specified [RCV000439602] Chr5:168495456 [GRCh38]
Chr5:167922461 [GRCh37]
Chr5:5q34
benign|likely benign
NM_002887.4(RARS1):c.1874-10A>G single nucleotide variant not provided [RCV001513711]|not specified [RCV000422247] Chr5:168519071 [GRCh38]
Chr5:167946076 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1626-5T>C single nucleotide variant not specified [RCV000443496] Chr5:168517810 [GRCh38]
Chr5:167944815 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.823-20T>A single nucleotide variant not provided [RCV001523102]|not specified [RCV000443508] Chr5:168500571 [GRCh38]
Chr5:167927576 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.479-5A>G single nucleotide variant not provided [RCV001697810] Chr5:168494545 [GRCh38]
Chr5:167921550 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.342G>A (p.Gln114=) single nucleotide variant not provided [RCV001513706]|not specified [RCV000420149] Chr5:168492820 [GRCh38]
Chr5:167919825 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.2T>C (p.Met1Thr) single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV000785104]|Inborn genetic diseases [RCV004659032]|not provided [RCV000440377] Chr5:168486500 [GRCh38]
Chr5:167913505 [GRCh37]
Chr5:5q34
pathogenic|likely pathogenic
NM_002887.4(RARS1):c.1410A>T (p.Leu470=) single nucleotide variant not provided [RCV000946897]|not specified [RCV000426970] Chr5:168510644 [GRCh38]
Chr5:167937649 [GRCh37]
Chr5:5q34
benign|likely benign
NM_002887.4(RARS1):c.729C>A (p.Thr243=) single nucleotide variant not provided [RCV001513707]|not specified [RCV000430829] Chr5:168497255 [GRCh38]
Chr5:167924260 [GRCh37]
Chr5:5q34
benign
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
NM_002887.4(RARS1):c.823-16AT[7] microsatellite RARS1-related disorder [RCV003962334]|not provided [RCV001704600] Chr5:168500574..168500575 [GRCh38]
Chr5:167927579..167927580 [GRCh37]
Chr5:5q34
benign|likely benign
NM_002887.4(RARS1):c.448_456del (p.Cys150_Glu152del) deletion not provided [RCV000485131] Chr5:168493968..168493976 [GRCh38]
Chr5:167920973..167920981 [GRCh37]
Chr5:5q34
likely pathogenic
NM_002887.3(RARS1):c.-57_-32del26 deletion not specified [RCV000486761] Chr5:168486429..168486454 [GRCh38]
Chr5:167913434..167913459 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1568T>A (p.Met523Lys) single nucleotide variant not provided [RCV000478126] Chr5:168516893 [GRCh38]
Chr5:167943898 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.198G>A (p.Arg66=) single nucleotide variant not specified [RCV000610544] Chr5:168492676 [GRCh38]
Chr5:167919681 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.46-16G>T single nucleotide variant not specified [RCV000603930] Chr5:168488586 [GRCh38]
Chr5:167915591 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1650T>C (p.Ile550=) single nucleotide variant not provided [RCV002232737]|not specified [RCV000607613] Chr5:168517839 [GRCh38]
Chr5:167944844 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.822+139C>T single nucleotide variant not provided [RCV001566281] Chr5:168497487 [GRCh38]
Chr5:167924492 [GRCh37]
Chr5:5q34
likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_002887.4(RARS1):c.580-299dup duplication not provided [RCV001708993] Chr5:168495002..168495003 [GRCh38]
Chr5:167922007..167922008 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.478+40C>G single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV001796636]|not provided [RCV001648826] Chr5:168494042 [GRCh38]
Chr5:167921047 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1414C>T (p.Arg472Ter) single nucleotide variant not provided [RCV000760708]|not specified [RCV001449756] Chr5:168510648 [GRCh38]
Chr5:167937653 [GRCh37]
Chr5:5q34
pathogenic|likely pathogenic|uncertain significance
NM_002887.4(RARS1):c.1057+277A>T single nucleotide variant not provided [RCV001640840] Chr5:168502382 [GRCh38]
Chr5:167929387 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.181-136G>A single nucleotide variant not provided [RCV001578253] Chr5:168492523 [GRCh38]
Chr5:167919528 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.370-243_370-240dup duplication not provided [RCV001609101] Chr5:168493633..168493634 [GRCh38]
Chr5:167920638..167920639 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.370-244_370-240dup duplication not provided [RCV001568537] Chr5:168493633..168493634 [GRCh38]
Chr5:167920638..167920639 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1873+9C>T single nucleotide variant not provided [RCV000882722] Chr5:168518071 [GRCh38]
Chr5:167945076 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.204A>G (p.Lys68=) single nucleotide variant not provided [RCV000924053] Chr5:168492682 [GRCh38]
Chr5:167919687 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1873+8_1873+9insTTTTTTTTTTTTTTTTTTTTTTT insertion not provided [RCV000882721] Chr5:168518069..168518070 [GRCh38]
Chr5:167945074..167945075 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1873+8_1873+9insTTTTTTTTTTTTTTTTTTTTTTTTT insertion not provided [RCV000895337] Chr5:168518069..168518070 [GRCh38]
Chr5:167945074..167945075 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.823-12A>G single nucleotide variant not provided [RCV000841532] Chr5:168500579 [GRCh38]
Chr5:167927584 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1625+249G>A single nucleotide variant not provided [RCV000828633] Chr5:168517199 [GRCh38]
Chr5:167944204 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1873+162C>T single nucleotide variant not provided [RCV000828636] Chr5:168518224 [GRCh38]
Chr5:167945229 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.370-302C>G single nucleotide variant not provided [RCV000828621] Chr5:168493592 [GRCh38]
Chr5:167920597 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1346+235G>T single nucleotide variant not provided [RCV000832499] Chr5:168507066 [GRCh38]
Chr5:167934071 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.479-166A>G single nucleotide variant not provided [RCV000843823] Chr5:168494384 [GRCh38]
Chr5:167921389 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.46-251C>T single nucleotide variant not provided [RCV000833455] Chr5:168488351 [GRCh38]
Chr5:167915356 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1626-278C>T single nucleotide variant not provided [RCV000828634] Chr5:168517537 [GRCh38]
Chr5:167944542 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.479-201G>A single nucleotide variant not provided [RCV000833456] Chr5:168494349 [GRCh38]
Chr5:167921354 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1626-259C>A single nucleotide variant not provided [RCV000833457] Chr5:168517556 [GRCh38]
Chr5:167944561 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.369+217A>G single nucleotide variant not provided [RCV000831904] Chr5:168493064 [GRCh38]
Chr5:167920069 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1057+235C>G single nucleotide variant not provided [RCV000831906] Chr5:168502340 [GRCh38]
Chr5:167929345 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1626-279C>T single nucleotide variant not provided [RCV000832500] Chr5:168517536 [GRCh38]
Chr5:167944541 [GRCh37]
Chr5:5q34
benign
GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1 copy number loss Atrial septal defect 7 [RCV000853560] Chr5:166421173..173324843 [GRCh37]
Chr5:5q34-35.2
pathogenic
NM_002887.4(RARS1):c.947G>A (p.Arg316His) single nucleotide variant Inborn genetic diseases [RCV003273570] Chr5:168500715 [GRCh38]
Chr5:167927720 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1346+14A>G single nucleotide variant not provided [RCV001560028] Chr5:168506845 [GRCh38]
Chr5:167933850 [GRCh37]
Chr5:5q34
benign|likely benign
NM_002887.4(RARS1):c.1626-73_1626-72insTGATTTACGTGAATCACTTAGTACATATTTTC insertion not provided [RCV001717018] Chr5:168517738..168517739 [GRCh38]
Chr5:167944743..167944744 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.701+192T>G single nucleotide variant not provided [RCV001679342] Chr5:168495628 [GRCh38]
Chr5:167922633 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1346+117A>G single nucleotide variant not provided [RCV001648148] Chr5:168506948 [GRCh38]
Chr5:167933953 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.579+146G>A single nucleotide variant not provided [RCV001617928] Chr5:168494796 [GRCh38]
Chr5:167921801 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.45+116_45+117del microsatellite not provided [RCV001725545] Chr5:168486657..168486658 [GRCh38]
Chr5:167913662..167913663 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.580-43T>C single nucleotide variant not provided [RCV001580891] Chr5:168495272 [GRCh38]
Chr5:167922277 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1057+277del deletion not provided [RCV001586899] Chr5:168502382 [GRCh38]
Chr5:167929387 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.45+252C>T single nucleotide variant not provided [RCV001611477] Chr5:168486795 [GRCh38]
Chr5:167913800 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1626-230A>C single nucleotide variant not provided [RCV001581651] Chr5:168517585 [GRCh38]
Chr5:167944590 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1057+281T>A single nucleotide variant not provided [RCV001657024] Chr5:168502386 [GRCh38]
Chr5:167929391 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1494T>G (p.Val498=) single nucleotide variant not provided [RCV000958093] Chr5:168516819 [GRCh38]
Chr5:167943824 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.45+276G>A single nucleotide variant not provided [RCV001561916] Chr5:168486819 [GRCh38]
Chr5:167913824 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1347-164T>C single nucleotide variant not provided [RCV001563575] Chr5:168510417 [GRCh38]
Chr5:167937422 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.181-41T>A single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV001796619]|not provided [RCV001621746] Chr5:168492618 [GRCh38]
Chr5:167919623 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.181-116G>A single nucleotide variant not provided [RCV001718009] Chr5:168492543 [GRCh38]
Chr5:167919548 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1057+278_1057+279insTT insertion not provided [RCV001555449] Chr5:168502382..168502383 [GRCh38]
Chr5:167929387..167929388 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.180+175G>A single nucleotide variant not provided [RCV001569158] Chr5:168488911 [GRCh38]
Chr5:167915916 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1058-288_1058-286del deletion not provided [RCV001545422] Chr5:168505715..168505717 [GRCh38]
Chr5:167932720..167932722 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.702-110T>C single nucleotide variant not provided [RCV001717013] Chr5:168497118 [GRCh38]
Chr5:167924123 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.701+22A>G single nucleotide variant not provided [RCV001718026] Chr5:168495458 [GRCh38]
Chr5:167922463 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.3G>T (p.Met1Ile) single nucleotide variant not provided [RCV001593924] Chr5:168486501 [GRCh38]
Chr5:167913506 [GRCh37]
Chr5:5q34
pathogenic
NM_002887.4(RARS1):c.1058-286del deletion not provided [RCV001693457] Chr5:168505715 [GRCh38]
Chr5:167932720 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.369+170del deletion not provided [RCV001636142] Chr5:168493012 [GRCh38]
Chr5:167920017 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1452+1G>A single nucleotide variant not provided [RCV001091692] Chr5:168510687 [GRCh38]
Chr5:167937692 [GRCh37]
Chr5:5q34
pathogenic|likely pathogenic
NM_002887.4(RARS1):c.45+55C>T single nucleotide variant not provided [RCV001644210] Chr5:168486598 [GRCh38]
Chr5:167913603 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1057+292A>T single nucleotide variant not provided [RCV001678859] Chr5:168502397 [GRCh38]
Chr5:167929402 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1057+276_1057+277insTTT insertion not provided [RCV001616786] Chr5:168502380..168502381 [GRCh38]
Chr5:167929385..167929386 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.580-247T>C single nucleotide variant not provided [RCV001587590] Chr5:168495068 [GRCh38]
Chr5:167922073 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.822+184del deletion not provided [RCV001713652] Chr5:168497523 [GRCh38]
Chr5:167924528 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.44A>G (p.Gln15Arg) single nucleotide variant not provided [RCV001215565] Chr5:168486542 [GRCh38]
Chr5:167913547 [GRCh37]
Chr5:5q34
uncertain significance
GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1 copy number loss not provided [RCV001005746] Chr5:156347980..169959880 [GRCh37]
Chr5:5q33.3-35.1
pathogenic
NM_002887.4(RARS1):c.1316C>A (p.Ala439Asp) single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV001255852]|Leukodystrophy [RCV004798897] Chr5:168506801 [GRCh38]
Chr5:167933806 [GRCh37]
Chr5:5q34
likely pathogenic
NM_002887.4(RARS1):c.1816A>T (p.Thr606Ser) single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV001332193]|Inborn genetic diseases [RCV004035734]|not provided [RCV003120557] Chr5:168518005 [GRCh38]
Chr5:167945010 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.11T>A (p.Leu4Gln) single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV001330998] Chr5:168486509 [GRCh38]
Chr5:167913514 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.2T>G (p.Met1Arg) single nucleotide variant Leukodystrophy, hypomyelinating, 9 [RCV001335989] Chr5:168486500 [GRCh38]
Chr5:167913505 [GRCh37]
Chr5:5q34
pathogenic
NM_002887.4(RARS1):c.36G>C (p.Leu12=) single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV001335990]|not provided [RCV002546755] Chr5:168486534 [GRCh38]
Chr5:167913539 [GRCh37]
Chr5:5q34
likely benign|uncertain significance
NM_002887.4(RARS1):c.1441G>T (p.Glu481Ter) single nucleotide variant Leukodystrophy, hypomyelinating, 9 [RCV001335986] Chr5:168510675 [GRCh38]
Chr5:167937680 [GRCh37]
Chr5:5q34
pathogenic
NM_002887.4(RARS1):c.1716G>A (p.Trp572Ter) single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV003484443] Chr5:168517905 [GRCh38]
Chr5:167944910 [GRCh37]
Chr5:5q34
pathogenic|likely pathogenic
NM_002887.4(RARS1):c.161G>A (p.Arg54Gln) single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV001330999]|not provided [RCV002546435] Chr5:168488717 [GRCh38]
Chr5:167915722 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.370-241_370-240dup duplication not provided [RCV001671544] Chr5:168493633..168493634 [GRCh38]
Chr5:167920638..167920639 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1058-290_1058-286del deletion not provided [RCV001715895] Chr5:168505715..168505719 [GRCh38]
Chr5:167932720..167932724 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1057+280_1057+281insA insertion not provided [RCV001649426] Chr5:168502385..168502386 [GRCh38]
Chr5:167929390..167929391 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1626-4dup duplication not provided [RCV001512665] Chr5:168517803..168517804 [GRCh38]
Chr5:167944808..167944809 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1237-43del deletion not provided [RCV001587144] Chr5:168506669 [GRCh38]
Chr5:167933674 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1873+77G>A single nucleotide variant not provided [RCV001672221] Chr5:168518139 [GRCh38]
Chr5:167945144 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1625+220T>C single nucleotide variant not provided [RCV001680983] Chr5:168517170 [GRCh38]
Chr5:167944175 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1237-44_1237-43dup duplication not provided [RCV001592149] Chr5:168506668..168506669 [GRCh38]
Chr5:167933673..167933674 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1453-15T>G single nucleotide variant not provided [RCV001513737] Chr5:168516763 [GRCh38]
Chr5:167943768 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.776A>G (p.Tyr259Cys) single nucleotide variant not provided [RCV001515897] Chr5:168497302 [GRCh38]
Chr5:167924307 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1347-20G>C single nucleotide variant not provided [RCV002238062] Chr5:168510561 [GRCh38]
Chr5:167937566 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1127T>A (p.Val376Glu) single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV001731680]|RARS1-related disorder [RCV003959899]|not provided [RCV002525344]|not specified [RCV000428474] Chr5:168506090 [GRCh38]
Chr5:167933095 [GRCh37]
Chr5:5q34
benign|likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_002887.3(RARS1):c.-45C>T single nucleotide variant not specified [RCV000432583] Chr5:168486454 [GRCh38]
Chr5:167913459 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1236+17G>A single nucleotide variant not provided [RCV002230248]|not specified [RCV000422419] Chr5:168506216 [GRCh38]
Chr5:167933221 [GRCh37]
Chr5:5q34
benign|likely benign
NM_002887.4(RARS1):c.982G>A (p.Val328Ile) single nucleotide variant RARS1-related disorder [RCV003972597]|not provided [RCV000973186]|not specified [RCV000444672] Chr5:168502030 [GRCh38]
Chr5:167929035 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.668G>A (p.Arg223His) single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV002470873]|not provided [RCV000484732] Chr5:168495403 [GRCh38]
Chr5:167922408 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1853_1854del (p.Val618fs) microsatellite not provided [RCV000486727] Chr5:168518038..168518039 [GRCh38]
Chr5:167945043..167945044 [GRCh37]
Chr5:5q34
pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_002887.4(RARS1):c.822+15C>T single nucleotide variant not provided [RCV002233004]|not specified [RCV000613529] Chr5:168497363 [GRCh38]
Chr5:167924368 [GRCh37]
Chr5:5q34
benign|likely benign
NM_002887.4(RARS1):c.1696T>C (p.Leu566=) single nucleotide variant RARS1-related disorder [RCV003935666]|not provided [RCV001697570] Chr5:168517885 [GRCh38]
Chr5:167944890 [GRCh37]
Chr5:5q34
likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3 copy number gain not provided [RCV000745284] Chr5:155344802..180693344 [GRCh37]
Chr5:5q33.2-35.3
pathogenic
NM_002887.4(RARS1):c.370-273G>A single nucleotide variant not provided [RCV001645843] Chr5:168493621 [GRCh38]
Chr5:167920626 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.181-193C>A single nucleotide variant not provided [RCV001585330] Chr5:168492466 [GRCh38]
Chr5:167919471 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1142G>A (p.Gly381Asp) single nucleotide variant not provided [RCV000998487] Chr5:168506105 [GRCh38]
Chr5:167933110 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1665C>G (p.Leu555=) single nucleotide variant not provided [RCV000998489] Chr5:168517854 [GRCh38]
Chr5:167944859 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.181-10T>A single nucleotide variant not provided [RCV000905989] Chr5:168492649 [GRCh38]
Chr5:167919654 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1873+8_1873+9insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT insertion not provided [RCV000900325] Chr5:168518069..168518070 [GRCh38]
Chr5:167945074..167945075 [GRCh37]
Chr5:5q34
benign
GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3 copy number gain not provided [RCV000845588] Chr5:156597181..171166353 [GRCh37]
Chr5:5q33.3-35.1
pathogenic
NM_002887.4(RARS1):c.953-272_953-271insTAT insertion not provided [RCV000832674] Chr5:168501727..168501728 [GRCh38]
Chr5:167928732..167928733 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1346+161A>C single nucleotide variant not provided [RCV000831908] Chr5:168506992 [GRCh38]
Chr5:167933997 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.370-174G>T single nucleotide variant not provided [RCV000828622] Chr5:168493720 [GRCh38]
Chr5:167920725 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1236+226A>G single nucleotide variant not provided [RCV000828627] Chr5:168506425 [GRCh38]
Chr5:167933430 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.580-225A>G single nucleotide variant not provided [RCV000828624] Chr5:168495090 [GRCh38]
Chr5:167922095 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.953-260G>A single nucleotide variant not provided [RCV000828626] Chr5:168501741 [GRCh38]
Chr5:167928746 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1347-333C>G single nucleotide variant not provided [RCV000828628] Chr5:168510248 [GRCh38]
Chr5:167937253 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1347-171G>A single nucleotide variant not provided [RCV000828630] Chr5:168510410 [GRCh38]
Chr5:167937415 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1452+233G>A single nucleotide variant not provided [RCV000828631] Chr5:168510919 [GRCh38]
Chr5:167937924 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1452+271A>T single nucleotide variant not provided [RCV000828632] Chr5:168510957 [GRCh38]
Chr5:167937962 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1626-255T>C single nucleotide variant not provided [RCV000828635] Chr5:168517560 [GRCh38]
Chr5:167944565 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1534C>T (p.Arg512Trp) single nucleotide variant not provided [RCV000998488] Chr5:168516859 [GRCh38]
Chr5:167943864 [GRCh37]
Chr5:5q34
likely pathogenic
NM_002887.4(RARS1):c.370-120T>A single nucleotide variant not provided [RCV001545888] Chr5:168493774 [GRCh38]
Chr5:167920779 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1057+278dup duplication not provided [RCV001597785] Chr5:168502382..168502383 [GRCh38]
Chr5:167929387..167929388 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.702-59T>G single nucleotide variant not provided [RCV001639496] Chr5:168497169 [GRCh38]
Chr5:167924174 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1057+257AT[13] microsatellite not provided [RCV001577438] Chr5:168502361..168502362 [GRCh38]
Chr5:167929366..167929367 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.952+218A>T single nucleotide variant not provided [RCV001557649] Chr5:168500938 [GRCh38]
Chr5:167927943 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1237-180G>A single nucleotide variant not provided [RCV001683834] Chr5:168506542 [GRCh38]
Chr5:167933547 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1057+276dup duplication not provided [RCV001609727] Chr5:168502380..168502381 [GRCh38]
Chr5:167929385..167929386 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.82C>T (p.Arg28Trp) single nucleotide variant RARS1-related disorder [RCV003931215]|not provided [RCV001574454] Chr5:168488638 [GRCh38]
Chr5:167915643 [GRCh37]
Chr5:5q34
benign|likely benign
NM_002887.4(RARS1):c.823-55A>T single nucleotide variant not provided [RCV001637408] Chr5:168500536 [GRCh38]
Chr5:167927541 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1452+110A>C single nucleotide variant not provided [RCV001555850] Chr5:168510796 [GRCh38]
Chr5:167937801 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1626-127C>T single nucleotide variant not provided [RCV001651586] Chr5:168517688 [GRCh38]
Chr5:167944693 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.370-240dup duplication not provided [RCV001669861] Chr5:168493633..168493634 [GRCh38]
Chr5:167920638..167920639 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1057+278_1057+279insTTT insertion not provided [RCV001652610] Chr5:168502382..168502383 [GRCh38]
Chr5:167929387..167929388 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1058-190T>C single nucleotide variant not provided [RCV001670225] Chr5:168505831 [GRCh38]
Chr5:167932836 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1237-43dup duplication Hypomyelinating leukodystrophy 9 [RCV001796592]|not provided [RCV001534178] Chr5:168506668..168506669 [GRCh38]
Chr5:167933673..167933674 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1058-287_1058-286del deletion not provided [RCV001648182] Chr5:168505715..168505716 [GRCh38]
Chr5:167932720..167932721 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.180+61C>G single nucleotide variant not provided [RCV001567017] Chr5:168488797 [GRCh38]
Chr5:167915802 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.580-299del deletion not provided [RCV001612842] Chr5:168495003 [GRCh38]
Chr5:167922008 [GRCh37]
Chr5:5q34
benign
GRCh37/hg19 5q32-35.3(chr5:149010383-180719789) copy number gain Hunter-McAlpine craniosynostosis [RCV002280612] Chr5:149010383..180719789 [GRCh37]
Chr5:5q32-35.3
pathogenic
GRCh37/hg19 5q34-35.1(chr5:166378793-170174830)x1 copy number loss not provided [RCV001259927] Chr5:166378793..170174830 [GRCh37]
Chr5:5q34-35.1
likely pathogenic
NM_002887.4(RARS1):c.76A>T (p.Ile26Phe) single nucleotide variant not provided [RCV001327089] Chr5:168488632 [GRCh38]
Chr5:167915637 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.180+2T>C single nucleotide variant not provided [RCV002790959] Chr5:168488738 [GRCh38]
Chr5:167915743 [GRCh37]
Chr5:5q34
pathogenic|likely pathogenic
NM_002887.4(RARS1):c.860A>G (p.Lys287Arg) single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV001332195] Chr5:168500628 [GRCh38]
Chr5:167927633 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1625+83dup duplication not provided [RCV001679526] Chr5:168517020..168517021 [GRCh38]
Chr5:167944025..167944026 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1057+276_1057+277insTT insertion not provided [RCV001645535] Chr5:168502380..168502381 [GRCh38]
Chr5:167929385..167929386 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.701+137C>T single nucleotide variant not provided [RCV001714307] Chr5:168495573 [GRCh38]
Chr5:167922578 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1057+195A>G single nucleotide variant not provided [RCV001590088] Chr5:168502300 [GRCh38]
Chr5:167929305 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.206C>T (p.Pro69Leu) single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV003147641]|Inborn genetic diseases [RCV004039551]|RARS1-related disorder [RCV003968430]|not provided [RCV001652969] Chr5:168492684 [GRCh38]
Chr5:167919689 [GRCh37]
Chr5:5q34
likely benign|uncertain significance
NM_002887.4(RARS1):c.220A>G (p.Ile74Val) single nucleotide variant Inborn genetic diseases [RCV004039518]|not provided [RCV001592283] Chr5:168492698 [GRCh38]
Chr5:167919703 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1453-151C>T single nucleotide variant not provided [RCV001717014] Chr5:168516627 [GRCh38]
Chr5:167943632 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.6C>T (p.Asp2=) single nucleotide variant not provided [RCV002238038] Chr5:168486504 [GRCh38]
Chr5:167913509 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.10C>T (p.Leu4=) single nucleotide variant not provided [RCV002238040] Chr5:168486508 [GRCh38]
Chr5:167913513 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.15G>T (p.Val5=) single nucleotide variant not provided [RCV002238041] Chr5:168486513 [GRCh38]
Chr5:167913518 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.23G>T (p.Cys8Phe) single nucleotide variant not provided [RCV002238042] Chr5:168486521 [GRCh38]
Chr5:167913526 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.24C>T (p.Cys8=) single nucleotide variant not provided [RCV002238043] Chr5:168486522 [GRCh38]
Chr5:167913527 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.45+19G>A single nucleotide variant not provided [RCV002238044] Chr5:168486562 [GRCh38]
Chr5:167913567 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.46-8T>C single nucleotide variant not provided [RCV002238045] Chr5:168488594 [GRCh38]
Chr5:167915599 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.449G>A (p.Cys150Tyr) single nucleotide variant not provided [RCV002238047] Chr5:168493973 [GRCh38]
Chr5:167920978 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.823-8A>G single nucleotide variant not provided [RCV002238052] Chr5:168500583 [GRCh38]
Chr5:167927588 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.826T>G (p.Ser276Ala) single nucleotide variant not provided [RCV002238054] Chr5:168500594 [GRCh38]
Chr5:167927599 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1058-16G>A single nucleotide variant not provided [RCV002238055] Chr5:168506005 [GRCh38]
Chr5:167933010 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1165C>T (p.Leu389=) single nucleotide variant not provided [RCV002238056] Chr5:168506128 [GRCh38]
Chr5:167933133 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1200A>G (p.Lys400=) single nucleotide variant not provided [RCV002238058] Chr5:168506163 [GRCh38]
Chr5:167933168 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1209G>A (p.Met403Ile) single nucleotide variant not provided [RCV002238059] Chr5:168506172 [GRCh38]
Chr5:167933177 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1236+20T>C single nucleotide variant not provided [RCV002238060] Chr5:168506219 [GRCh38]
Chr5:167933224 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1251G>A (p.Gln417=) single nucleotide variant not provided [RCV002238061] Chr5:168506736 [GRCh38]
Chr5:167933741 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1347-9A>G single nucleotide variant not provided [RCV002238063] Chr5:168510572 [GRCh38]
Chr5:167937577 [GRCh37]
Chr5:5q34
likely benign|conflicting interpretations of pathogenicity
NM_002887.4(RARS1):c.1347-7T>G single nucleotide variant not provided [RCV002238064] Chr5:168510574 [GRCh38]
Chr5:167937579 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1347-3T>C single nucleotide variant not provided [RCV002238065] Chr5:168510578 [GRCh38]
Chr5:167937583 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1492G>A (p.Val498Ile) single nucleotide variant not provided [RCV002238067] Chr5:168516817 [GRCh38]
Chr5:167943822 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1500T>C (p.Tyr500=) single nucleotide variant not provided [RCV002238068] Chr5:168516825 [GRCh38]
Chr5:167943830 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1536G>T (p.Arg512=) single nucleotide variant not provided [RCV002238069] Chr5:168516861 [GRCh38]
Chr5:167943866 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1692T>G (p.Ile564Met) single nucleotide variant not provided [RCV002238070] Chr5:168517881 [GRCh38]
Chr5:167944886 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1873+5G>A single nucleotide variant not provided [RCV002238073] Chr5:168518067 [GRCh38]
Chr5:167945072 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1903A>T (p.Met635Leu) single nucleotide variant Inborn genetic diseases [RCV003164327]|not provided [RCV002238074] Chr5:168519110 [GRCh38]
Chr5:167946115 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1912T>A (p.Cys638Ser) single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV003152788]|Inborn genetic diseases [RCV004047277]|not provided [RCV002238075] Chr5:168519119 [GRCh38]
Chr5:167946124 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1532A>G (p.Asn511Ser) single nucleotide variant not provided [RCV003106951] Chr5:168516857 [GRCh38]
Chr5:167943862 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1423G>A (p.Asp475Asn) single nucleotide variant not provided [RCV002236526] Chr5:168510657 [GRCh38]
Chr5:167937662 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1873+33_1873+34insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT insertion not provided [RCV002236527] Chr5:168518071..168518072 [GRCh38]
Chr5:167945076..167945077 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1873+18_1873+33del deletion not provided [RCV002236528] Chr5:168518072..168518087 [GRCh38]
Chr5:167945077..167945092 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1873+33del deletion not provided [RCV002236529] Chr5:168518072 [GRCh38]
Chr5:167945077 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.445G>T (p.Glu149Ter) single nucleotide variant not provided [RCV001727341] Chr5:168493969 [GRCh38]
Chr5:167920974 [GRCh37]
Chr5:5q34
pathogenic
NM_002887.4(RARS1):c.9A>C (p.Val3=) single nucleotide variant not provided [RCV002238039] Chr5:168486507 [GRCh38]
Chr5:167913512 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.370-12A>G single nucleotide variant not provided [RCV002238046] Chr5:168493882 [GRCh38]
Chr5:167920887 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.469G>C (p.Ala157Pro) single nucleotide variant not provided [RCV002238048] Chr5:168493993 [GRCh38]
Chr5:167920998 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.574A>C (p.Lys192Gln) single nucleotide variant not provided [RCV002238049] Chr5:168494645 [GRCh38]
Chr5:167921650 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.701+19C>T single nucleotide variant not provided [RCV002238050] Chr5:168495455 [GRCh38]
Chr5:167922460 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.747C>T (p.Ile249=) single nucleotide variant not provided [RCV002238051] Chr5:168497273 [GRCh38]
Chr5:167924278 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.825dup (p.Ser276fs) duplication not provided [RCV002238053] Chr5:168500591..168500592 [GRCh38]
Chr5:167927596..167927597 [GRCh37]
Chr5:5q34
pathogenic|conflicting interpretations of pathogenicity
NM_002887.4(RARS1):c.1197A>C (p.Glu399Asp) single nucleotide variant not provided [RCV002238057] Chr5:168506160 [GRCh38]
Chr5:167933165 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1465G>A (p.Glu489Lys) single nucleotide variant Inborn genetic diseases [RCV004047276]|RARS1-related disorder [RCV003926335]|not provided [RCV002238066] Chr5:168516790 [GRCh38]
Chr5:167943795 [GRCh37]
Chr5:5q34
likely benign|conflicting interpretations of pathogenicity
NM_002887.4(RARS1):c.1835A>G (p.Tyr612Cys) single nucleotide variant not provided [RCV002238071] Chr5:168518024 [GRCh38]
Chr5:167945029 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1869G>C (p.Gln623His) single nucleotide variant not provided [RCV002238072] Chr5:168518058 [GRCh38]
Chr5:167945063 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1939A>G (p.Lys647Glu) single nucleotide variant not provided [RCV002238076] Chr5:168519146 [GRCh38]
Chr5:167946151 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.614_615del (p.Lys205fs) deletion Hypomyelinating leukodystrophy 9 [RCV001783665] Chr5:168495348..168495349 [GRCh38]
Chr5:167922353..167922354 [GRCh37]
Chr5:5q34
likely pathogenic
NM_002887.4(RARS1):c.208A>G (p.Thr70Ala) single nucleotide variant not provided [RCV001787436] Chr5:168492686 [GRCh38]
Chr5:167919691 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.104T>G (p.Leu35Ter) single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV001783669] Chr5:168488660 [GRCh38]
Chr5:167915665 [GRCh37]
Chr5:5q34
likely pathogenic
NM_002887.4(RARS1):c.204del (p.Lys68fs) deletion Hypomyelinating leukodystrophy 9 [RCV001783667] Chr5:168492680 [GRCh38]
Chr5:167919685 [GRCh37]
Chr5:5q34
likely pathogenic
NM_002887.4(RARS1):c.1863_1866del (p.Gln623fs) deletion Hypomyelinating leukodystrophy 9 [RCV001783668] Chr5:168518049..168518052 [GRCh38]
Chr5:167945054..167945057 [GRCh37]
Chr5:5q34
likely pathogenic
NM_002887.4(RARS1):c.175C>T (p.Arg59Ter) single nucleotide variant not provided [RCV001806950] Chr5:168488731 [GRCh38]
Chr5:167915736 [GRCh37]
Chr5:5q34
likely pathogenic
GRCh37/hg19 5q34-35.1(chr5:164207156-172799124) copy number loss not specified [RCV002053537] Chr5:164207156..172799124 [GRCh37]
Chr5:5q34-35.1
pathogenic
NM_002887.4(RARS1):c.369+14A>G single nucleotide variant not provided [RCV002236520] Chr5:168492861 [GRCh38]
Chr5:167919866 [GRCh37]
Chr5:5q34
likely benign
NC_000005.9:g.(?_167849013)_(169661202_?)del deletion DOCK2 deficiency [RCV003113614] Chr5:167849013..169661202 [GRCh37]
Chr5:5q34-35.1
pathogenic
NM_002887.4(RARS1):c.1208T>C (p.Met403Thr) single nucleotide variant not provided [RCV003122085] Chr5:168506171 [GRCh38]
Chr5:167933176 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.675T>G (p.Phe225Leu) single nucleotide variant not provided [RCV004777359] Chr5:168495410 [GRCh38]
Chr5:167922415 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.847G>A (p.Glu283Lys) single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV003130388] Chr5:168500615 [GRCh38]
Chr5:167927620 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1535G>T (p.Arg512Leu) single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV003130387] Chr5:168516860 [GRCh38]
Chr5:167943865 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.370-26A>G single nucleotide variant not provided [RCV002276446] Chr5:168493868 [GRCh38]
Chr5:167920873 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.17C>T (p.Ser6Phe) single nucleotide variant not provided [RCV002291890] Chr5:168486515 [GRCh38]
Chr5:167913520 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.180+5G>A single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV003148162] Chr5:168488741 [GRCh38]
Chr5:167915746 [GRCh37]
Chr5:5q34
uncertain significance
GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3 copy number gain not provided [RCV002474507] Chr5:150535183..172906793 [GRCh37]
Chr5:5q33.1-35.2
pathogenic
NM_002887.4(RARS1):c.400C>T (p.Pro134Ser) single nucleotide variant Inborn genetic diseases [RCV004661530]|not provided [RCV002995649] Chr5:168493924 [GRCh38]
Chr5:167920929 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1473G>T (p.Leu491Phe) single nucleotide variant not provided [RCV002975648] Chr5:168516798 [GRCh38]
Chr5:167943803 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1295A>T (p.Lys432Ile) single nucleotide variant not provided [RCV002794979] Chr5:168506780 [GRCh38]
Chr5:167933785 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.838_850del (p.Phe280fs) deletion not provided [RCV002858665] Chr5:168500602..168500614 [GRCh38]
Chr5:167927607..167927619 [GRCh37]
Chr5:5q34
pathogenic
NM_002887.4(RARS1):c.311C>T (p.Pro104Leu) single nucleotide variant Inborn genetic diseases [RCV004065908]|not provided [RCV002614759] Chr5:168492789 [GRCh38]
Chr5:167919794 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.702-10T>A single nucleotide variant not provided [RCV003076521] Chr5:168497218 [GRCh38]
Chr5:167924223 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1805_1806dup (p.Glu603fs) microsatellite Hypomyelinating leukodystrophy 9 [RCV001783666] Chr5:168517986..168517987 [GRCh38]
Chr5:167944991..167944992 [GRCh37]
Chr5:5q34
likely pathogenic
NM_002887.4(RARS1):c.999del (p.Glu335fs) deletion Hypomyelinating leukodystrophy 9 [RCV004800028] Chr5:168502047 [GRCh38]
Chr5:167929052 [GRCh37]
Chr5:5q34
pathogenic
NM_002887.4(RARS1):c.885T>C (p.Val295=) single nucleotide variant not provided [RCV002236521] Chr5:168500653 [GRCh38]
Chr5:167927658 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.944C>T (p.Ser315Phe) single nucleotide variant not provided [RCV002236523] Chr5:168500712 [GRCh38]
Chr5:167927717 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1361C>T (p.Thr454Ile) single nucleotide variant not provided [RCV002236525] Chr5:168510595 [GRCh38]
Chr5:167937600 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.897T>C (p.Gly299=) single nucleotide variant not provided [RCV002236522] Chr5:168500665 [GRCh38]
Chr5:167927670 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.946C>T (p.Arg316Cys) single nucleotide variant Inborn genetic diseases [RCV004047275]|not provided [RCV002236524] Chr5:168500714 [GRCh38]
Chr5:167927719 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1874-1G>C single nucleotide variant not provided [RCV002236530] Chr5:168519080 [GRCh38]
Chr5:167946085 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.272C>T (p.Ala91Val) single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV002471260]|not provided [RCV002236518] Chr5:168492750 [GRCh38]
Chr5:167919755 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.369+10T>A single nucleotide variant not provided [RCV002236519] Chr5:168492857 [GRCh38]
Chr5:167919862 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1820C>T (p.Ala607Val) single nucleotide variant not provided [RCV003156645] Chr5:168518009 [GRCh38]
Chr5:167945014 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1625+191_1625+192del deletion not provided [RCV003151976] Chr5:168517134..168517135 [GRCh38]
Chr5:167944139..167944140 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.305T>A (p.Val102Glu) single nucleotide variant not provided [RCV002288129] Chr5:168492783 [GRCh38]
Chr5:167919788 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1873+30_1873+33dup duplication not provided [RCV002815848] Chr5:168518071..168518072 [GRCh38]
Chr5:167945076..167945077 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.1649T>C (p.Ile550Thr) single nucleotide variant not provided [RCV003017251] Chr5:168517838 [GRCh38]
Chr5:167944843 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.535C>G (p.Leu179Val) single nucleotide variant not provided [RCV003017054] Chr5:168494606 [GRCh38]
Chr5:167921611 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.467T>A (p.Ile156Asn) single nucleotide variant not provided [RCV003015829] Chr5:168493991 [GRCh38]
Chr5:167920996 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.741G>A (p.Met247Ile) single nucleotide variant not provided [RCV002462490] Chr5:168497267 [GRCh38]
Chr5:167924272 [GRCh37]
Chr5:5q34
conflicting interpretations of pathogenicity|uncertain significance
NM_002887.4(RARS1):c.531TCT[1] (p.Leu179del) microsatellite not provided [RCV002995815] Chr5:168494602..168494604 [GRCh38]
Chr5:167921607..167921609 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1292C>G (p.Pro431Arg) single nucleotide variant not provided [RCV003034771] Chr5:168506777 [GRCh38]
Chr5:167933782 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.231T>C (p.Ile77=) single nucleotide variant not provided [RCV002903536] Chr5:168492709 [GRCh38]
Chr5:167919714 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.85T>C (p.Leu29=) single nucleotide variant not provided [RCV002623214] Chr5:168488641 [GRCh38]
Chr5:167915646 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1873+18_1873+33dup duplication not provided [RCV002952774] Chr5:168518071..168518072 [GRCh38]
Chr5:167945076..167945077 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1873+8_1873+9insTTTTTTTTTTTTTTT insertion not provided [RCV002948846] Chr5:168518069..168518070 [GRCh38]
Chr5:167945074..167945075 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1873+20_1873+33dup duplication not provided [RCV002949522] Chr5:168518071..168518072 [GRCh38]
Chr5:167945076..167945077 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1738C>T (p.Arg580Trp) single nucleotide variant not provided [RCV002591752] Chr5:168517927 [GRCh38]
Chr5:167944932 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1058-5C>T single nucleotide variant not provided [RCV002706100] Chr5:168506016 [GRCh38]
Chr5:167933021 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1266T>C (p.Ala422=) single nucleotide variant not provided [RCV002619683] Chr5:168506751 [GRCh38]
Chr5:167933756 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1013A>G (p.Tyr338Cys) single nucleotide variant not provided [RCV002570941] Chr5:168502061 [GRCh38]
Chr5:167929066 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.620T>C (p.Met207Thr) single nucleotide variant not provided [RCV003019304] Chr5:168495355 [GRCh38]
Chr5:167922360 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1873+19_1873+33dup duplication not provided [RCV002923925] Chr5:168518071..168518072 [GRCh38]
Chr5:167945076..167945077 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.675T>C (p.Phe225=) single nucleotide variant not provided [RCV003082714] Chr5:168495410 [GRCh38]
Chr5:167922415 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.790C>T (p.Pro264Ser) single nucleotide variant not provided [RCV002933447] Chr5:168497316 [GRCh38]
Chr5:167924321 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.579+12C>T single nucleotide variant not provided [RCV003041660] Chr5:168494662 [GRCh38]
Chr5:167921667 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1429T>C (p.Leu477=) single nucleotide variant not provided [RCV003041110] Chr5:168510663 [GRCh38]
Chr5:167937668 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.575A>G (p.Lys192Arg) single nucleotide variant not provided [RCV002700228] Chr5:168494646 [GRCh38]
Chr5:167921651 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.257A>G (p.His86Arg) single nucleotide variant not provided [RCV003040528] Chr5:168492735 [GRCh38]
Chr5:167919740 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1690A>T (p.Ile564Phe) single nucleotide variant not provided [RCV003007629] Chr5:168517879 [GRCh38]
Chr5:167944884 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1726C>T (p.Arg576Trp) single nucleotide variant not provided [RCV002576003] Chr5:168517915 [GRCh38]
Chr5:167944920 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.20A>T (p.Glu7Val) single nucleotide variant not provided [RCV002626720] Chr5:168486518 [GRCh38]
Chr5:167913523 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1194G>A (p.Glu398=) single nucleotide variant not provided [RCV002917309] Chr5:168506157 [GRCh38]
Chr5:167933162 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1456T>G (p.Leu486Val) single nucleotide variant not provided [RCV002631185] Chr5:168516781 [GRCh38]
Chr5:167943786 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.822+19T>G single nucleotide variant not provided [RCV002856646] Chr5:168497367 [GRCh38]
Chr5:167924372 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.7G>C (p.Val3Leu) single nucleotide variant Inborn genetic diseases [RCV003269485]|not provided [RCV002632430] Chr5:168486505 [GRCh38]
Chr5:167913510 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1415G>A (p.Arg472Gln) single nucleotide variant not provided [RCV002646832] Chr5:168510649 [GRCh38]
Chr5:167937654 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1168G>A (p.Ala390Thr) single nucleotide variant not provided [RCV002938090] Chr5:168506131 [GRCh38]
Chr5:167933136 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1715G>A (p.Trp572Ter) single nucleotide variant not provided [RCV002899297] Chr5:168517904 [GRCh38]
Chr5:167944909 [GRCh37]
Chr5:5q34
pathogenic
NM_002887.4(RARS1):c.968A>G (p.Tyr323Cys) single nucleotide variant Inborn genetic diseases [RCV003250600]|not provided [RCV002856918] Chr5:168502016 [GRCh38]
Chr5:167929021 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1881A>G (p.Ile627Met) single nucleotide variant not provided [RCV002963373] Chr5:168519088 [GRCh38]
Chr5:167946093 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1557C>T (p.Ser519=) single nucleotide variant not provided [RCV002602208] Chr5:168516882 [GRCh38]
Chr5:167943887 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1873+33_1873+34insTTTTTTTTTTTTTTTTTTTTTTTTTT insertion not provided [RCV002967082] Chr5:168518071..168518072 [GRCh38]
Chr5:167945076..167945077 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.538G>A (p.Val180Met) single nucleotide variant not provided [RCV003047992] Chr5:168494609 [GRCh38]
Chr5:167921614 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.823-15T>A single nucleotide variant not provided [RCV002583181] Chr5:168500576 [GRCh38]
Chr5:167927581 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1873+33_1873+34insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT insertion not provided [RCV002942375] Chr5:168518071..168518072 [GRCh38]
Chr5:167945076..167945077 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.882A>G (p.Val294=) single nucleotide variant not provided [RCV002943620] Chr5:168500650 [GRCh38]
Chr5:167927655 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.365C>T (p.Ser122Phe) single nucleotide variant not provided [RCV002606509] Chr5:168492843 [GRCh38]
Chr5:167919848 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1911A>G (p.Leu637=) single nucleotide variant not provided [RCV002587837] Chr5:168519118 [GRCh38]
Chr5:167946123 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1237-13G>A single nucleotide variant not provided [RCV002608572] Chr5:168506709 [GRCh38]
Chr5:167933714 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1873+22_1873+33del deletion not provided [RCV002942569] Chr5:168518072..168518083 [GRCh38]
Chr5:167945077..167945088 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1807G>T (p.Glu603Ter) single nucleotide variant not provided [RCV002587374] Chr5:168517996 [GRCh38]
Chr5:167945001 [GRCh37]
Chr5:5q34
pathogenic
NM_002887.4(RARS1):c.1522C>A (p.Leu508Ile) single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV003134451]|Inborn genetic diseases [RCV004064506]|not provided [RCV002588996] Chr5:168516847 [GRCh38]
Chr5:167943852 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1873+21_1873+33del deletion not provided [RCV003093255] Chr5:168518072..168518084 [GRCh38]
Chr5:167945077..167945089 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1662_1663delinsTT (p.Met554_Leu555delinsIlePhe) indel Hypomyelinating leukodystrophy 9 [RCV003155901] Chr5:168517851..168517852 [GRCh38]
Chr5:167944856..167944857 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1452+12C>A single nucleotide variant Hypomyelinating leukodystrophy 9 [RCV003135209] Chr5:168510698 [GRCh38]
Chr5:167937703 [GRCh37]
Chr5:5q34
likely benign|uncertain significance
NM_002887.4(RARS1):c.748G>A (p.Ala250Thr) single nucleotide variant Inborn genetic diseases [RCV003262478]|not provided [RCV004784134] Chr5:168497274 [GRCh38]
Chr5:167924279 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1171G>T (p.Ala391Ser) single nucleotide variant Inborn genetic diseases [RCV003352598] Chr5:168506134 [GRCh38]
Chr5:167933139 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1795del (p.Asp599fs) deletion RARS1-related disorder [RCV003406235] Chr5:168517984 [GRCh38]
Chr5:167944989 [GRCh37]
Chr5:5q34
likely pathogenic
NM_002887.4(RARS1):c.29C>T (p.Ala10Val) single nucleotide variant not provided [RCV003579623] Chr5:168486527 [GRCh38]
Chr5:167913532 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1873+23_1873+33dup duplication not provided [RCV003702239] Chr5:168518071..168518072 [GRCh38]
Chr5:167945076..167945077 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.580-20T>A single nucleotide variant not provided [RCV003843524] Chr5:168495295 [GRCh38]
Chr5:167922300 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.579+8T>G single nucleotide variant not provided [RCV003726860] Chr5:168494658 [GRCh38]
Chr5:167921663 [GRCh37]
Chr5:5q34
likely benign
GRCh37/hg19 5q34-35.1(chr5:167580162-168867423)x1 copy number loss not specified [RCV003986582] Chr5:167580162..168867423 [GRCh37]
Chr5:5q34-35.1
uncertain significance
NM_002887.4(RARS1):c.1870_1873+4dup duplication not provided [RCV003565745] Chr5:168518058..168518059 [GRCh38]
Chr5:167945063..167945064 [GRCh37]
Chr5:5q34
uncertain significance
GRCh37/hg19 5q34-35.1(chr5:165763259-170909410)x1 copy number loss not specified [RCV003986566] Chr5:165763259..170909410 [GRCh37]
Chr5:5q34-35.1
pathogenic
NM_002887.4(RARS1):c.580-4C>G single nucleotide variant not provided [RCV003567578] Chr5:168495311 [GRCh38]
Chr5:167922316 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.12G>C (p.Leu4=) single nucleotide variant not provided [RCV003712123] Chr5:168486510 [GRCh38]
Chr5:167913515 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1221T>C (p.Val407=) single nucleotide variant RARS1-related disorder [RCV003971372] Chr5:168506184 [GRCh38]
Chr5:167933189 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1381C>T (p.Arg461Cys) single nucleotide variant Inborn genetic diseases [RCV004660532] Chr5:168510615 [GRCh38]
Chr5:167937620 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.689A>G (p.Tyr230Cys) single nucleotide variant Inborn genetic diseases [RCV004660533] Chr5:168495424 [GRCh38]
Chr5:167922429 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.242A>G (p.Gln81Arg) single nucleotide variant not provided [RCV004781117] Chr5:168492720 [GRCh38]
Chr5:167919725 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1801A>T (p.Ile601Leu) single nucleotide variant not provided [RCV004792920] Chr5:168517990 [GRCh38]
Chr5:167944995 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.694G>A (p.Val232Met) single nucleotide variant not provided [RCV004769152] Chr5:168495429 [GRCh38]
Chr5:167922434 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1798T>A (p.Tyr600Asn) single nucleotide variant not provided [RCV004794774] Chr5:168517987 [GRCh38]
Chr5:167944992 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1826C>G (p.Thr609Arg) single nucleotide variant not provided [RCV004760875]   uncertain significance
NM_002887.4(RARS1):c.1579dup (p.Arg527fs) duplication not provided [RCV004791161] Chr5:168516903..168516904 [GRCh38]
Chr5:167943908..167943909 [GRCh37]
Chr5:5q34
likely pathogenic
NM_002887.4(RARS1):c.734T>G (p.Phe245Cys) single nucleotide variant not provided [RCV002842943] Chr5:168497260 [GRCh38]
Chr5:167924265 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1873+15_1873+33dup duplication not provided [RCV003080266] Chr5:168518071..168518072 [GRCh38]
Chr5:167945076..167945077 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.838T>A (p.Phe280Ile) single nucleotide variant not provided [RCV002824918] Chr5:168500606 [GRCh38]
Chr5:167927611 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.83G>A (p.Arg28Gln) single nucleotide variant not provided [RCV002570259] Chr5:168488639 [GRCh38]
Chr5:167915644 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1277T>C (p.Ile426Thr) single nucleotide variant not provided [RCV002875739] Chr5:168506762 [GRCh38]
Chr5:167933767 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.953-16T>G single nucleotide variant not provided [RCV002626284] Chr5:168501985 [GRCh38]
Chr5:167928990 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.777T>C (p.Tyr259=) single nucleotide variant not provided [RCV002900180] Chr5:168497303 [GRCh38]
Chr5:167924308 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1873+32_1873+33del deletion not provided [RCV002900434] Chr5:168518072..168518073 [GRCh38]
Chr5:167945077..167945078 [GRCh37]
Chr5:5q34
benign
NM_002887.4(RARS1):c.528C>T (p.Thr176=) single nucleotide variant not provided [RCV002792152] Chr5:168494599 [GRCh38]
Chr5:167921604 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1511A>T (p.Lys504Ile) single nucleotide variant not provided [RCV002676765] Chr5:168516836 [GRCh38]
Chr5:167943841 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.55A>G (p.Ile19Val) single nucleotide variant not provided [RCV002603923] Chr5:168488611 [GRCh38]
Chr5:167915616 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.41A>G (p.Gln14Arg) single nucleotide variant Inborn genetic diseases [RCV003194599] Chr5:168486539 [GRCh38]
Chr5:167913544 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.-5G>A single nucleotide variant not provided [RCV003225364] Chr5:168486494 [GRCh38]
Chr5:167913499 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.653G>C (p.Gly218Ala) single nucleotide variant not provided [RCV003225366] Chr5:168495388 [GRCh38]
Chr5:167922393 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.484A>G (p.Ile162Val) single nucleotide variant Inborn genetic diseases [RCV003179680] Chr5:168494555 [GRCh38]
Chr5:167921560 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.227TTA[1] (p.Ile77del) microsatellite Hypomyelinating leukodystrophy 9 [RCV004566077]|not provided [RCV003323093] Chr5:168492704..168492706 [GRCh38]
Chr5:167919709..167919711 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.361A>G (p.Ile121Val) single nucleotide variant not provided [RCV003332911] Chr5:168492839 [GRCh38]
Chr5:167919844 [GRCh37]
Chr5:5q34
uncertain significance
GRCh37/hg19 5q34(chr5:167244760-167992937)x3 copy number gain not provided [RCV003484631] Chr5:167244760..167992937 [GRCh37]
Chr5:5q34
uncertain significance
GRCh37/hg19 5q34(chr5:163825772-168355129)x1 copy number loss not provided [RCV003485490] Chr5:163825772..168355129 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1873+4A>T single nucleotide variant not provided [RCV003429980] Chr5:168518066 [GRCh38]
Chr5:167945071 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1149C>A (p.Thr383=) single nucleotide variant not provided [RCV003429979] Chr5:168506112 [GRCh38]
Chr5:167933117 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1058-5C>G single nucleotide variant not provided [RCV003714640] Chr5:168506016 [GRCh38]
Chr5:167933021 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.1873+16_1873+33dup duplication not provided [RCV003545404] Chr5:168518071..168518072 [GRCh38]
Chr5:167945076..167945077 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.101G>T (p.Cys34Phe) single nucleotide variant Inborn genetic diseases [RCV004438533] Chr5:168488657 [GRCh38]
Chr5:167915662 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1364G>A (p.Arg455His) single nucleotide variant Inborn genetic diseases [RCV004438535] Chr5:168510598 [GRCh38]
Chr5:167937603 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1729T>C (p.Cys577Arg) single nucleotide variant Inborn genetic diseases [RCV004438537] Chr5:168517918 [GRCh38]
Chr5:167944923 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.233GCC[1] (p.Arg79del) microsatellite Inborn genetic diseases [RCV004438540] Chr5:168492711..168492713 [GRCh38]
Chr5:167919716..167919718 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.782C>A (p.Thr261Lys) single nucleotide variant Inborn genetic diseases [RCV004438550] Chr5:168497308 [GRCh38]
Chr5:167924313 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.181-8T>A single nucleotide variant not provided [RCV003674263] Chr5:168492651 [GRCh38]
Chr5:167919656 [GRCh37]
Chr5:5q34
likely benign
NM_002887.4(RARS1):c.950A>C (p.Gln317Pro) single nucleotide variant Inborn genetic diseases [RCV004374140]|not provided [RCV003728666] Chr5:168500718 [GRCh38]
Chr5:167927723 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.235C>T (p.Arg79Cys) single nucleotide variant Inborn genetic diseases [RCV004438539] Chr5:168492713 [GRCh38]
Chr5:167919718 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.369+3G>A single nucleotide variant Inborn genetic diseases [RCV004438541] Chr5:168492850 [GRCh38]
Chr5:167919855 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.811G>A (p.Val271Ile) single nucleotide variant Inborn genetic diseases [RCV004438552] Chr5:168497337 [GRCh38]
Chr5:167924342 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.43C>G (p.Gln15Glu) single nucleotide variant Inborn genetic diseases [RCV004438542] Chr5:168486541 [GRCh38]
Chr5:167913546 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.608T>C (p.Ile203Thr) single nucleotide variant Inborn genetic diseases [RCV004438546] Chr5:168495343 [GRCh38]
Chr5:167922348 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1291C>A (p.Pro431Thr) single nucleotide variant Inborn genetic diseases [RCV004438534] Chr5:168506776 [GRCh38]
Chr5:167933781 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1453-5C>T single nucleotide variant Inborn genetic diseases [RCV004438536] Chr5:168516773 [GRCh38]
Chr5:167943778 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1967C>T (p.Pro656Leu) single nucleotide variant Inborn genetic diseases [RCV004438538] Chr5:168519174 [GRCh38]
Chr5:167946179 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.45+6G>A single nucleotide variant Inborn genetic diseases [RCV004438543] Chr5:168486549 [GRCh38]
Chr5:167913554 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.46-4A>G single nucleotide variant Inborn genetic diseases [RCV004438544] Chr5:168488598 [GRCh38]
Chr5:167915603 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.657G>T (p.Glu219Asp) single nucleotide variant Inborn genetic diseases [RCV004438547] Chr5:168495392 [GRCh38]
Chr5:167922397 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.784G>A (p.Val262Ile) single nucleotide variant Inborn genetic diseases [RCV004438551] Chr5:168497310 [GRCh38]
Chr5:167924315 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.568G>C (p.Glu190Gln) single nucleotide variant Inborn genetic diseases [RCV004438545] Chr5:168494639 [GRCh38]
Chr5:167921644 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.752A>G (p.His251Arg) single nucleotide variant Inborn genetic diseases [RCV004438548] Chr5:168497278 [GRCh38]
Chr5:167924283 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.753C>G (p.His251Gln) single nucleotide variant Inborn genetic diseases [RCV004438549] Chr5:168497279 [GRCh38]
Chr5:167924284 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.796A>G (p.Ile266Val) single nucleotide variant Inborn genetic diseases [RCV004660534] Chr5:168497322 [GRCh38]
Chr5:167924327 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.634C>G (p.Leu212Val) single nucleotide variant Inborn genetic diseases [RCV004660535] Chr5:168495369 [GRCh38]
Chr5:167922374 [GRCh37]
Chr5:5q34
uncertain significance
NM_002887.4(RARS1):c.1283G>A (p.Trp428Ter) single nucleotide variant not provided [RCV004791160] Chr5:168506768 [GRCh38]
Chr5:167933773 [GRCh37]
Chr5:5q34
likely pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR16-1hsa-miR-16-5pMirtarbaseexternal_infoNorthern blot//qRT-PCRFunctional MTI (Weak)12434020
MIR16-1hsa-miR-16-5pMirtarbaseexternal_infoqRT-PCRFunctional MTI (Weak)15648093
MIR16-2hsa-miR-16-5pMirtarbaseexternal_infoNorthern blot//qRT-PCRFunctional MTI (Weak)12434020
MIR16-2hsa-miR-16-5pMirtarbaseexternal_infoqRT-PCRFunctional MTI (Weak)15648093

Predicted Target Of
Summary Value
Count of predictions:1611
Count of miRNA genes:864
Interacting mature miRNAs:1014
Transcripts:ENST00000231572, ENST00000518757, ENST00000519346, ENST00000520013, ENST00000520421, ENST00000521329, ENST00000521939, ENST00000522834, ENST00000524082, ENST00000538719
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
2289409BW320_HBody weight QTL 320 (human)3.50.0002Body weightlean mass5160925164181538259Human
597209339GWAS1305413_Hthyroxine measurement, triiodothyronine measurement QTL GWAS1305413 (human)0.000004thyroxine measurement, triiodothyronine measurementblood triiodothyronine level (CMO:0001291)5168490499168490500Human
597357629GWAS1453703_Hbody height QTL GWAS1453703 (human)2e-26body height (VT:0001253)body height (CMO:0000106)5168490499168490500Human
597147994GWAS1244068_HCOVID-19 QTL GWAS1244068 (human)8e-08COVID-195168503872168503873Human
597281092GWAS1377166_Hhemoglobin A1 measurement QTL GWAS1377166 (human)4e-08hemoglobin A1 measurement5168504668168504669Human
597172886GWAS1268960_Hbody mass index QTL GWAS1268960 (human)4e-08body mass indexbody mass index (BMI) (CMO:0000105)5168519071168519072Human

Markers in Region
WI-16695  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375167,920,366 - 167,920,515UniSTSGRCh37
Build 365167,852,944 - 167,853,093RGDNCBI36
Celera5163,955,705 - 163,955,854RGD
Cytogenetic Map5q35.1UniSTS
HuRef5163,019,136 - 163,019,285UniSTS
GeneMap99-GB4 RH Map5626.62UniSTS
Whitehead-RH Map5530.2UniSTS
RH65982  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375167,921,621 - 167,921,788UniSTSGRCh37
Build 365167,854,199 - 167,854,366RGDNCBI36
Celera5163,956,960 - 163,957,127RGD
Cytogenetic Map5q35.1UniSTS
HuRef5163,020,391 - 163,020,558UniSTS
GeneMap99-GB4 RH Map5626.62UniSTS
RH12410  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375167,936,211 - 167,936,316UniSTSGRCh37
Build 365167,868,789 - 167,868,894RGDNCBI36
Celera5163,971,554 - 163,971,659RGD
Cytogenetic Map5q35.1UniSTS
HuRef5163,034,928 - 163,035,033UniSTS
GeneMap99-GB4 RH Map5626.67UniSTS
NCBI RH Map5973.0UniSTS
RH10999  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375167,946,110 - 167,946,289UniSTSGRCh37
Build 365167,878,688 - 167,878,867RGDNCBI36
Celera5163,981,482 - 163,981,661RGD
Cytogenetic Map5q35.1UniSTS
HuRef5163,044,857 - 163,045,036UniSTS
GeneMap99-GB4 RH Map5631.64UniSTS
RARS  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375167,933,089 - 167,933,199UniSTSGRCh37
Celera5163,968,431 - 163,968,541UniSTS
HuRef5163,031,805 - 163,031,915UniSTS
STS-AA011177  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375167,945,005 - 167,946,193UniSTSGRCh37
Celera5163,980,346 - 163,981,565UniSTS
Cytogenetic Map5q35.1UniSTS
HuRef5163,043,720 - 163,044,940UniSTS
GeneMap99-GB4 RH Map12105.2UniSTS
NCBI RH Map12322.1UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence


Ensembl Acc Id: ENST00000231572   ⟹   ENSP00000231572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5168,486,471 - 168,519,301 (+)Ensembl
Ensembl Acc Id: ENST00000518757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5168,497,012 - 168,506,030 (+)Ensembl
Ensembl Acc Id: ENST00000519346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5168,488,692 - 168,495,151 (+)Ensembl
Ensembl Acc Id: ENST00000520013   ⟹   ENSP00000429030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5168,486,491 - 168,519,298 (+)Ensembl
Ensembl Acc Id: ENST00000520421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5168,497,218 - 168,502,035 (+)Ensembl
Ensembl Acc Id: ENST00000521329   ⟹   ENSP00000428494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5168,486,470 - 168,493,958 (+)Ensembl
Ensembl Acc Id: ENST00000521939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5168,486,486 - 168,494,736 (+)Ensembl
Ensembl Acc Id: ENST00000522834   ⟹   ENSP00000430035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5168,486,482 - 168,495,333 (+)Ensembl
Ensembl Acc Id: ENST00000524082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5168,486,451 - 168,493,187 (+)Ensembl
Ensembl Acc Id: ENST00000626454   ⟹   ENSP00000486284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5168,486,499 - 168,488,615 (+)Ensembl
RefSeq Acc Id: NM_002887   ⟹   NP_002878
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385168,486,471 - 168,519,301 (+)NCBI
GRCh375167,913,463 - 167,946,311 (+)ENTREZGENE
Build 365167,846,041 - 167,878,889 (+)NCBI Archive
HuRef5163,012,238 - 163,045,058 (+)ENTREZGENE
CHM1_15167,346,530 - 167,379,378 (+)NCBI
T2T-CHM13v2.05169,021,262 - 169,054,094 (+)NCBI
Sequence:
RefSeq Acc Id: NP_002878   ⟸   NM_002887
- UniProtKB: P54136 (UniProtKB/Swiss-Prot),   Q53GY4 (UniProtKB/Swiss-Prot),   B2RBS9 (UniProtKB/Swiss-Prot),   Q9BWA1 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000486284   ⟸   ENST00000626454
Ensembl Acc Id: ENSP00000429030   ⟸   ENST00000520013
Ensembl Acc Id: ENSP00000231572   ⟸   ENST00000231572
Ensembl Acc Id: ENSP00000428494   ⟸   ENST00000521329
Ensembl Acc Id: ENSP00000430035   ⟸   ENST00000522834
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P54136-F1-model_v2 AlphaFold P54136 1-660 view protein structure

Promoters
RGD ID:6803493
Promoter ID:HG_KWN:51734
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000252794
Position:
Human AssemblyChrPosition (strand)Source
Build 365167,845,821 - 167,846,321 (+)MPROMDB
RGD ID:6852518
Promoter ID:EP74071
Type:initiation region
Name:HS_RARS
Description:Arginyl-tRNA synthetase.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 365167,846,054 - 167,846,114EPD
RGD ID:6871490
Promoter ID:EPDNEW_H8910
Type:initiation region
Name:RARS_1
Description:arginyl-tRNA synthetase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385168,486,471 - 168,486,531EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9870 AgrOrtholog
COSMIC RARS1 COSMIC
Ensembl Genes ENSG00000113643 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000231572 ENTREZGENE
  ENST00000231572.8 UniProtKB/Swiss-Prot
  ENST00000520013.5 UniProtKB/TrEMBL
  ENST00000521329.5 UniProtKB/TrEMBL
  ENST00000522834.5 UniProtKB/TrEMBL
  ENST00000626454.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.1360.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.620 UniProtKB/Swiss-Prot
  Isoleucyl-tRNA Synthetase, Domain 1 UniProtKB/Swiss-Prot
GTEx ENSG00000113643 GTEx
HGNC ID HGNC:9870 ENTREZGENE
Human Proteome Map RARS1 Human Proteome Map
InterPro aa-tRNA-synth_I_CS UniProtKB/Swiss-Prot
  Arg-tRNA-ligase UniProtKB/Swiss-Prot
  Arg-tRNA-synth_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Arg-tRNA-synth_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ArgRS_core UniProtKB/Swiss-Prot
  DALR_anticod-bd UniProtKB/Swiss-Prot
  Rossmann-like_a/b/a_fold UniProtKB/Swiss-Prot
  tRNAsynth_Ia_anticodon-bd UniProtKB/Swiss-Prot
KEGG Report hsa:5917 UniProtKB/Swiss-Prot
NCBI Gene 5917 ENTREZGENE
OMIM 107820 OMIM
PANTHER ARGININE--TRNA LIGASE, CYTOPLASMIC UniProtKB/Swiss-Prot
  PRIMATE-EXPANDED PROTEIN FAMILY UniProtKB/TrEMBL
  PTHR11956 UniProtKB/Swiss-Prot
  SAM DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
Pfam Arg_tRNA_synt_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DALR_1 UniProtKB/Swiss-Prot
  tRNA-synt_1d UniProtKB/Swiss-Prot
PharmGKB PA34231 PharmGKB
PRINTS TRNASYNTHARG UniProtKB/Swiss-Prot
PROSITE AA_TRNA_LIGASE_I UniProtKB/Swiss-Prot
SMART Arg_tRNA_synt_N UniProtKB/Swiss-Prot
  DALR_1 UniProtKB/Swiss-Prot
Superfamily-SCOP Nucleotidylyl transferase UniProtKB/Swiss-Prot
  SSF47323 UniProtKB/Swiss-Prot
  SSF55190 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RBS9 ENTREZGENE
  E5RH09_HUMAN UniProtKB/TrEMBL
  E5RI24_HUMAN UniProtKB/TrEMBL
  E5RJM9_HUMAN UniProtKB/TrEMBL
  P54136 ENTREZGENE
  Q53GY4 ENTREZGENE
  Q9BWA1 ENTREZGENE
  SYRC_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2RBS9 UniProtKB/Swiss-Prot
  Q53GY4 UniProtKB/Swiss-Prot
  Q9BWA1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-07-23 RARS1  arginyl-tRNA synthetase 1  RARS  arginyl-tRNA synthetase  Symbol and/or name change 5135510 APPROVED