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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | RARS1 | Human | hypomyelinating leukodystrophy 9 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | RARS1 | Human | hypomyelinating leukodystrophy 9 | | IAGP | | 7240710 | | OMIM | | |
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# | 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 |
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 |
RARS1 (Homo sapiens - human) |
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Rars1 (Mus musculus - house mouse) |
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Rars1 (Rattus norvegicus - Norway rat) |
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Rars1 (Chinchilla lanigera - long-tailed chinchilla) |
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RARS1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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RARS1 (Canis lupus familiaris - dog) |
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Rars1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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RARS1 (Sus scrofa - pig) |
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RARS1 (Chlorocebus sabaeus - green monkey) |
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Rars1 (Heterocephalus glaber - naked mole-rat) |
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Variants in RARS1
294 total 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 |
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. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
WI-16695 |
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RH65982 |
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RH12410 |
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RH10999 |
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RARS |
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STS-AA011177 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
|
ectoderm
|
endocrine system
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endoderm
|
entire extraembryonic component
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
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mesenchyme
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mesoderm
|
musculoskeletal system
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nervous system
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pharyngeal arch
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renal system
|
reproductive system
|
respiratory system
|
sensory system
|
visual system
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1204 | 2439 | 2788 | 2253 | 4974 | 1726 | 2351 | 6 | 624 | 1951 | 465 | 2270 | 7306 | 6472 | 53 | 3734 | 1 | 852 | 1744 | 1617 | 175 | 1 |
RefSeq Transcripts | NG_041809 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_002887 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC020894 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK222797 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK302161 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK314795 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AU125370 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC000528 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC014619 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM984528 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BT007394 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CA439316 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471062 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068273 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S80343 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000231572 ⟹ ENSP00000231572 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000518757 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000519346 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000520013 ⟹ ENSP00000429030 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000520421 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000521329 ⟹ ENSP00000428494 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000521939 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000522834 ⟹ ENSP00000430035 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000524082 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000626454 ⟹ ENSP00000486284 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_002887 ⟹ NP_002878 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_002878 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAB35627 | (Get FASTA) | NCBI Sequence Viewer |
AAH00528 | (Get FASTA) | NCBI Sequence Viewer | |
AAH14619 | (Get FASTA) | NCBI Sequence Viewer | |
AAP36058 | (Get FASTA) | NCBI Sequence Viewer | |
BAD96517 | (Get FASTA) | NCBI Sequence Viewer | |
BAG37326 | (Get FASTA) | NCBI Sequence Viewer | |
BAG63528 | (Get FASTA) | NCBI Sequence Viewer | |
EAW61507 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000231572 | ||
ENSP00000231572.3 | |||
ENSP00000428494.1 | |||
ENSP00000429030.1 | |||
ENSP00000430035.1 | |||
ENSP00000486284.1 | |||
GenBank Protein | P54136 | (Get FASTA) | NCBI Sequence Viewer |
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 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P54136-F1-model_v2 | AlphaFold | P54136 | 1-660 | view protein structure |
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: |
|
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: |
|
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: |
|
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 |
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 |