Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hypomyelinating leukodystrophy 15 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hypomyelinating leukodystrophy 15 | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
3. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
4. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:1556743 | PMID:1651330 | PMID:1756734 | PMID:1988429 | PMID:2227938 | PMID:3290852 | PMID:8052601 | PMID:8078941 | PMID:8188258 | PMID:8449960 | PMID:8889549 | PMID:9278442 |
PMID:9556618 | PMID:9878398 | PMID:10791971 | PMID:10913161 | PMID:11123902 | PMID:11142386 | PMID:11714285 | PMID:11829477 | PMID:12477932 | PMID:14744259 | PMID:15302935 | PMID:15479637 |
PMID:15994936 | PMID:16055448 | PMID:16055720 | PMID:16169070 | PMID:16964243 | PMID:17353931 | PMID:17400507 | PMID:18374644 | PMID:18457437 | PMID:19131329 | PMID:19135240 | PMID:19289464 |
PMID:19490893 | PMID:19647514 | PMID:19738201 | PMID:19946888 | PMID:20195357 | PMID:20348541 | PMID:20379614 | PMID:21081503 | PMID:21081666 | PMID:21145461 | PMID:21220307 | PMID:21319273 |
PMID:21873635 | PMID:21900206 | PMID:22190034 | PMID:22268729 | PMID:22386318 | PMID:22623428 | PMID:22658674 | PMID:22751010 | PMID:22863883 | PMID:22939629 | PMID:22963397 | PMID:23071094 |
PMID:23125841 | PMID:23263184 | PMID:23443559 | PMID:23956138 | PMID:24100331 | PMID:24312579 | PMID:24332808 | PMID:24337748 | PMID:24457600 | PMID:24606901 | PMID:24639526 | PMID:24711643 |
PMID:25010285 | PMID:25147182 | PMID:25437307 | PMID:25515538 | PMID:25631074 | PMID:25756610 | PMID:25796446 | PMID:25921289 | PMID:26186194 | PMID:26344197 | PMID:26472760 | PMID:26472928 |
PMID:26496610 | PMID:26508657 | PMID:26618866 | PMID:26641092 | PMID:26725010 | PMID:26816005 | PMID:26831064 | PMID:26885983 | PMID:26950368 | PMID:27025967 | PMID:27248496 | PMID:27342126 |
PMID:27377895 | PMID:27462432 | PMID:27503909 | PMID:27591049 | PMID:27612429 | PMID:27684187 | PMID:28178239 | PMID:28302793 | PMID:28319085 | PMID:28380382 | PMID:28431233 | PMID:28443643 |
PMID:28514442 | PMID:28515276 | PMID:28685749 | PMID:28700943 | PMID:28902428 | PMID:28977666 | PMID:29028794 | PMID:29128334 | PMID:29212245 | PMID:29229926 | PMID:29298432 | PMID:29331416 |
PMID:29467282 | PMID:29507755 | PMID:29509190 | PMID:29511261 | PMID:29511296 | PMID:29564676 | PMID:29568061 | PMID:29576217 | PMID:29643180 | PMID:29676528 | PMID:29704455 | PMID:29777862 |
PMID:29845934 | PMID:29991511 | PMID:30021884 | PMID:30258100 | PMID:30352685 | PMID:30442662 | PMID:30455355 | PMID:30463901 | PMID:30575818 | PMID:30581152 | PMID:30804502 | PMID:30809309 |
PMID:30890647 | PMID:30948266 | PMID:31048545 | PMID:31059266 | PMID:31073040 | PMID:31091453 | PMID:31239290 | PMID:31300519 | PMID:31409639 | PMID:31478661 | PMID:31536960 | PMID:31586073 |
PMID:31685992 | PMID:31792442 | PMID:31995728 | PMID:32041737 | PMID:32129710 | PMID:32460013 | PMID:32529326 | PMID:32552912 | PMID:32611237 | PMID:32698014 | PMID:32786267 | PMID:32807901 |
PMID:32850835 | PMID:32929329 | PMID:33005030 | PMID:33022573 | PMID:33024031 | PMID:33111431 | PMID:33144569 | PMID:33239621 | PMID:33306668 | PMID:33397691 | PMID:33472061 | PMID:33658012 |
PMID:33731348 | PMID:33916271 | PMID:33961781 | PMID:34079125 | PMID:34244482 | PMID:34373451 | PMID:34537243 | PMID:34645483 | PMID:34650049 | PMID:34709727 | PMID:34728620 | PMID:34732716 |
PMID:35013218 | PMID:35032548 | PMID:35102251 | PMID:35152003 | PMID:35256949 | PMID:35271311 | PMID:35338135 | PMID:35384245 | PMID:35439318 | PMID:35446349 | PMID:35449157 | PMID:35509820 |
PMID:35546148 | PMID:35563538 | PMID:35654790 | PMID:35676659 | PMID:35681168 | PMID:35777956 | PMID:35819319 | PMID:35831314 | PMID:35850772 | PMID:35914814 | PMID:35944360 | PMID:36055981 |
PMID:36057605 | PMID:36114006 | PMID:36215168 | PMID:36244648 | PMID:36282215 | PMID:36339263 | PMID:36347866 | PMID:36373674 | PMID:36376293 | PMID:36517590 | PMID:36526897 | PMID:36574265 |
PMID:36631435 | PMID:36724073 | PMID:37120454 | PMID:37536630 | PMID:37827155 | PMID:38113892 | PMID:38245532 | PMID:38280479 |
EPRS1 (Homo sapiens - human) |
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Eprs1 (Mus musculus - house mouse) |
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Eprs1 (Rattus norvegicus - Norway rat) |
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Eprs1 (Chinchilla lanigera - long-tailed chinchilla) |
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EPRS1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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EPRS1 (Canis lupus familiaris - dog) |
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Eprs1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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EPRS1 (Sus scrofa - pig) |
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EPRS1 (Chlorocebus sabaeus - green monkey) |
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Eprs1 (Heterocephalus glaber - naked mole-rat) |
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.
Variants in EPRS1
260 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_004446.3(EPRS1):c.3377T>C (p.Met1126Thr) | single nucleotide variant | Leukodystrophy, hypomyelinating, 15 [RCV000626410] | Chr1:219981454 [GRCh38] Chr1:220154796 [GRCh37] Chr1:1q41 |
pathogenic |
GRCh38/hg38 1q41(chr1:215206760-222004068)x1 | copy number loss | See cases [RCV000050298] | Chr1:215206760..222004068 [GRCh38] Chr1:215380103..222177410 [GRCh37] Chr1:213446726..220244033 [NCBI36] Chr1:1q41 |
pathogenic |
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 | copy number gain | See cases [RCV000050981] | Chr1:214023812..248918469 [GRCh38] Chr1:214197155..249212668 [GRCh37] Chr1:212263778..247179291 [NCBI36] Chr1:1q32.3-44 |
pathogenic |
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 | copy number gain | See cases [RCV000051857] | Chr1:187143981..224299417 [GRCh38] Chr1:187113113..224487119 [GRCh37] Chr1:185379736..222553742 [NCBI36] Chr1:1q31.1-42.11 |
pathogenic |
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 | copy number gain | See cases [RCV000051861] | Chr1:209646207..248931113 [GRCh38] Chr1:209819552..249225312 [GRCh37] Chr1:207886175..247191935 [NCBI36] Chr1:1q32.2-44 |
pathogenic |
GRCh38/hg38 1q41(chr1:215447347-221971832)x3 | copy number gain | See cases [RCV000051874] | Chr1:215447347..221971832 [GRCh38] Chr1:215620690..222145174 [GRCh37] Chr1:213687313..220211797 [NCBI36] Chr1:1q41 |
pathogenic |
NM_004446.2(EPRS):c.163C>T (p.Leu55Phe) | single nucleotide variant | Malignant melanoma [RCV000060087] | Chr1:220034982 [GRCh38] Chr1:220208324 [GRCh37] Chr1:218274947 [NCBI36] Chr1:1q41 |
not provided |
NM_004446.2(EPRS):c.2746C>T (p.Arg916Trp) | single nucleotide variant | Malignant melanoma [RCV000064539] | Chr1:219988619 [GRCh38] Chr1:220161961 [GRCh37] Chr1:218228584 [NCBI36] Chr1:1q41 |
not provided |
NM_004446.3(EPRS1):c.3782T>C (p.Ile1261Thr) | single nucleotide variant | Leukodystrophy, hypomyelinating, 15 [RCV001333246] | Chr1:219979545 [GRCh38] Chr1:220152887 [GRCh37] Chr1:1q41 |
uncertain significance |
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 | copy number gain | See cases [RCV000134979] | Chr1:209963625..248918469 [GRCh38] Chr1:210136970..249212668 [GRCh37] Chr1:208203593..247179291 [NCBI36] Chr1:1q32.2-44 |
pathogenic |
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 | copy number gain | See cases [RCV000142054] | Chr1:204764914..225408698 [GRCh38] Chr1:204734042..225596400 [GRCh37] Chr1:203000665..223663023 [NCBI36] Chr1:1q32.1-42.12 |
pathogenic |
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 | copy number gain | See cases [RCV000143727] | Chr1:207346642..248930485 [GRCh38] Chr1:207519987..249224684 [GRCh37] Chr1:205586610..247191307 [NCBI36] Chr1:1q32.2-44 |
pathogenic |
GRCh38/hg38 1q41(chr1:215206760-222004068)x1 | copy number loss | See cases [RCV000148255] | Chr1:215206760..222004068 [GRCh38] Chr1:215380103..222177410 [GRCh37] Chr1:213446726..220244033 [NCBI36] Chr1:1q41 |
pathogenic |
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 | copy number gain | See cases [RCV000240137] | Chr1:197811907..228997888 [GRCh37] Chr1:1q31.3-42.13 |
pathogenic |
Single allele | deletion | Loeys-Dietz syndrome 4 [RCV000210452] | Chr1:215588712..222145072 [GRCh37] Chr1:1q41 |
pathogenic |
Single allele | deletion | Loeys-Dietz syndrome 4 [RCV000210464] | Chr1:216672181..220202575 [GRCh37] Chr1:1q41 |
pathogenic |
NM_004446.3(EPRS1):c.4015A>T (p.Ile1339Phe) | single nucleotide variant | not provided [RCV003312153] | Chr1:219978614 [GRCh38] Chr1:220151956 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3478C>T (p.Pro1160Ser) | single nucleotide variant | Leukodystrophy, hypomyelinating, 15 [RCV000626408] | Chr1:219980833 [GRCh38] Chr1:220154175 [GRCh37] Chr1:1q41 |
pathogenic |
NM_004446.3(EPRS1):c.3344C>G (p.Pro1115Arg) | single nucleotide variant | Leukodystrophy, hypomyelinating, 15 [RCV000626406]|not provided [RCV002533152] | Chr1:219982801 [GRCh38] Chr1:220156143 [GRCh37] Chr1:1q41 |
pathogenic|uncertain significance |
Single allele | deletion | Usher syndrome [RCV000505151] | Chr1:216066818..222607612 [GRCh38] Chr1:216240159..222780953 [GRCh37] Chr1:1q41 |
likely pathogenic |
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 | copy number gain | See cases [RCV000449172] | Chr1:195483439..249213000 [GRCh37] Chr1:1q31.3-44 |
pathogenic |
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 | copy number gain | See cases [RCV000449210] | Chr1:214697099..249224684 [GRCh37] Chr1:1q41-44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 | copy number gain | See cases [RCV000510383] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) | copy number gain | See cases [RCV000510926] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_004446.3(EPRS1):c.3109A>G (p.Met1037Val) | single nucleotide variant | Inborn genetic diseases [RCV003255596] | Chr1:219983380 [GRCh38] Chr1:220156722 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.223C>T (p.His75Tyr) | single nucleotide variant | Inborn genetic diseases [RCV003258219] | Chr1:220034922 [GRCh38] Chr1:220208264 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3667del (p.Thr1223fs) | deletion | Leukodystrophy, hypomyelinating, 15 [RCV000626409] | Chr1:219980129 [GRCh38] Chr1:220153471 [GRCh37] Chr1:1q41 |
pathogenic |
NM_004446.3(EPRS1):c.1015C>T (p.Arg339Ter) | single nucleotide variant | Leukodystrophy, hypomyelinating, 15 [RCV000626407] | Chr1:220022447 [GRCh38] Chr1:220195789 [GRCh37] Chr1:1q41 |
pathogenic |
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 | copy number gain | not provided [RCV000684700] | Chr1:218252551..249224684 [GRCh37] Chr1:1q41-44 |
pathogenic |
GRCh37/hg19 1q41(chr1:219617666-220147653)x3 | copy number gain | not provided [RCV000684702] | Chr1:219617666..220147653 [GRCh37] Chr1:1q41 |
uncertain significance |
GRCh37/hg19 1q41(chr1:219379258-222049547)x3 | copy number gain | not provided [RCV000848714] | Chr1:219379258..222049547 [GRCh37] Chr1:1q41 |
uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 | copy number gain | not provided [RCV000736295] | Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 | copy number gain | not provided [RCV000736305] | Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 | copy number gain | not provided [RCV000749265] | Chr1:185644663..221698833 [GRCh37] Chr1:1q25.3-41 |
pathogenic |
NM_004446.3(EPRS1):c.2775+3T>C | single nucleotide variant | not provided [RCV000972670] | Chr1:219988587 [GRCh38] Chr1:220161929 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.2575T>A (p.Ser859Thr) | single nucleotide variant | not provided [RCV000903395] | Chr1:219988790 [GRCh38] Chr1:220162132 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.3148C>T (p.Arg1050Cys) | single nucleotide variant | Leukodystrophy, hypomyelinating, 15 [RCV000984871]|not provided [RCV002549632] | Chr1:219983341 [GRCh38] Chr1:220156683 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3344C>T (p.Pro1115Leu) | single nucleotide variant | Leukodystrophy, hypomyelinating, 15 [RCV000984872] | Chr1:219982801 [GRCh38] Chr1:220156143 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2513G>A (p.Arg838His) | single nucleotide variant | Leukodystrophy, hypomyelinating, 15 [RCV000984958]|not provided [RCV002550585] | Chr1:219997011 [GRCh38] Chr1:220170353 [GRCh37] Chr1:1q41 |
uncertain significance |
GRCh37/hg19 1q41(chr1:219959610-220609144)x3 | copy number gain | not provided [RCV001005177] | Chr1:219959610..220609144 [GRCh37] Chr1:1q41 |
uncertain significance |
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 | copy number gain | not provided [RCV000845852] | Chr1:182388773..249111240 [GRCh37] Chr1:1q25.3-44 |
pathogenic |
NM_004446.3(EPRS1):c.4147A>G (p.Arg1383Gly) | single nucleotide variant | Inborn genetic diseases [RCV003272465] | Chr1:219973335 [GRCh38] Chr1:220146677 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.1459A>G (p.Met487Val) | single nucleotide variant | Intellectual disability [RCV003126216] | Chr1:220018484 [GRCh38] Chr1:220191826 [GRCh37] Chr1:1q41 |
pathogenic |
NM_004446.3(EPRS1):c.676G>A (p.Val226Ile) | single nucleotide variant | Inborn genetic diseases [RCV003292491] | Chr1:220025206 [GRCh38] Chr1:220198548 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3373+24A>G | single nucleotide variant | Leukodystrophy, hypomyelinating, 15 [RCV001661287] | Chr1:219982748 [GRCh38] Chr1:220156090 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.886G>C (p.Ala296Pro) | single nucleotide variant | not provided [RCV000972671] | Chr1:220024321 [GRCh38] Chr1:220197663 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.1481C>T (p.Ala494Val) | single nucleotide variant | not provided [RCV000888445] | Chr1:220018462 [GRCh38] Chr1:220191804 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.3785C>T (p.Pro1262Leu) | single nucleotide variant | not provided [RCV000888635] | Chr1:219979542 [GRCh38] Chr1:220152884 [GRCh37] Chr1:1q41 |
benign |
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 | copy number gain | not provided [RCV001005175] | Chr1:219916966..239004378 [GRCh37] Chr1:1q41-43 |
pathogenic |
GRCh37/hg19 1q41(chr1:219936892-220199101)x3 | copy number gain | not provided [RCV001005176] | Chr1:219936892..220199101 [GRCh37] Chr1:1q41 |
uncertain significance |
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 | copy number gain | See cases [RCV001194578] | Chr1:210152794..249218992 [GRCh37] Chr1:1q32.2-44 |
pathogenic |
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 | copy number gain | See cases [RCV001007407] | Chr1:204045948..249218992 [GRCh37] Chr1:1q32.1-44 |
pathogenic |
GRCh37/hg19 1q41-42.11(chr1:219734913-224104993)x1 | copy number loss | not provided [RCV001005174] | Chr1:219734913..224104993 [GRCh37] Chr1:1q41-42.11 |
pathogenic |
NM_004446.3(EPRS1):c.4309C>G (p.Leu1437Val) | single nucleotide variant | not provided [RCV001093208] | Chr1:219972083 [GRCh38] Chr1:220145425 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.1043A>G (p.Asn348Ser) | single nucleotide variant | not provided [RCV001093209] | Chr1:220022419 [GRCh38] Chr1:220195761 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3972T>G (p.Ile1324Met) | single nucleotide variant | Leukodystrophy, hypomyelinating, 15 [RCV001329255]|not provided [RCV002242178] | Chr1:219978657 [GRCh38] Chr1:220151999 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2372A>G (p.Tyr791Cys) | single nucleotide variant | Leukodystrophy, hypomyelinating, 15 [RCV001329251] | Chr1:219997152 [GRCh38] Chr1:220170494 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2702C>T (p.Ala901Val) | single nucleotide variant | Leukodystrophy, hypomyelinating, 15 [RCV001329252]|not provided [RCV002546310] | Chr1:219988663 [GRCh38] Chr1:220162005 [GRCh37] Chr1:1q41 |
uncertain significance |
NC_000001.10:g.(?_130980840)_(248900000_?)dup | duplication | Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] | Chr1:130980840..248900000 [GRCh37] Chr1:1q12-44 |
uncertain significance |
NM_004446.3(EPRS1):c.3215G>A (p.Gly1072Asp) | single nucleotide variant | Leukodystrophy, hypomyelinating, 15 [RCV001329254]|not provided [RCV001443524] | Chr1:219983274 [GRCh38] Chr1:220156616 [GRCh37] Chr1:1q41 |
likely benign|uncertain significance |
NM_004446.3(EPRS1):c.4244+3A>C | single nucleotide variant | Leukodystrophy, hypomyelinating, 15 [RCV001329256]|not provided [RCV002242301] | Chr1:219973235 [GRCh38] Chr1:220146577 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2789T>C (p.Ile930Thr) | single nucleotide variant | Leukodystrophy, hypomyelinating, 15 [RCV001329253] | Chr1:219987391 [GRCh38] Chr1:220160733 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.231+5G>A | single nucleotide variant | not provided [RCV001520562] | Chr1:220034909 [GRCh38] Chr1:220208251 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.3405G>A (p.Gln1135=) | single nucleotide variant | Leukodystrophy, hypomyelinating, 15 [RCV001664927]|not provided [RCV001515005] | Chr1:219981426 [GRCh38] Chr1:220154768 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.3102G>A (p.Lys1034=) | single nucleotide variant | not provided [RCV001515006] | Chr1:219983387 [GRCh38] Chr1:220156729 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.2085C>T (p.Ala695=) | single nucleotide variant | not provided [RCV001515007] | Chr1:220001234 [GRCh38] Chr1:220174576 [GRCh37] Chr1:1q41 |
benign|likely benign |
NM_004446.3(EPRS1):c.2677C>A (p.Pro893Thr) | single nucleotide variant | not provided [RCV001408672] | Chr1:219988688 [GRCh38] Chr1:220162030 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.3127A>G (p.Ile1043Val) | single nucleotide variant | not provided [RCV001519092] | Chr1:219983362 [GRCh38] Chr1:220156704 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.924C>A (p.Asp308Glu) | single nucleotide variant | Leukodystrophy, hypomyelinating, 15 [RCV001664928]|not provided [RCV001515008] | Chr1:220024283 [GRCh38] Chr1:220197625 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.232-17G>A | single nucleotide variant | Leukodystrophy, hypomyelinating, 15 [RCV001664933]|not provided [RCV001515681] | Chr1:220033675 [GRCh38] Chr1:220207017 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.1256A>G (p.Tyr419Cys) | single nucleotide variant | not provided [RCV001511726] | Chr1:220020081 [GRCh38] Chr1:220193423 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.4008T>C (p.Ser1336=) | single nucleotide variant | not provided [RCV001521951] | Chr1:219978621 [GRCh38] Chr1:220151963 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.1115+7A>G | single nucleotide variant | not provided [RCV001512502] | Chr1:220022340 [GRCh38] Chr1:220195682 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.2738A>G (p.Glu913Gly) | single nucleotide variant | not provided [RCV001514445] | Chr1:219988627 [GRCh38] Chr1:220161969 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.2678C>A (p.Pro893His) | single nucleotide variant | not provided [RCV001512501] | Chr1:219988687 [GRCh38] Chr1:220162029 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.1638T>C (p.Tyr546=) | single nucleotide variant | not provided [RCV001517401] | Chr1:220007306 [GRCh38] Chr1:220180648 [GRCh37] Chr1:1q41 |
benign|likely benign |
NM_004446.3(EPRS1):c.1951-18dup | duplication | Leukodystrophy, hypomyelinating, 15 [RCV001664911]|not provided [RCV001511839] | Chr1:220005375..220005376 [GRCh38] Chr1:220178717..220178718 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.2991C>G (p.Leu997=) | single nucleotide variant | not provided [RCV001519957] | Chr1:219987189 [GRCh38] Chr1:220160531 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.1888A>G (p.Ile630Val) | single nucleotide variant | not provided [RCV002239518] | Chr1:220006168 [GRCh38] Chr1:220179510 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.234T>G (p.Ile78Met) | single nucleotide variant | not provided [RCV002239528] | Chr1:220033656 [GRCh38] Chr1:220206998 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.4428T>C (p.Ala1476=) | single nucleotide variant | not provided [RCV002238391] | Chr1:219968917 [GRCh38] Chr1:220142259 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.4300_4301delinsTT (p.Gln1434Leu) | indel | not provided [RCV002238392] | Chr1:219972091..219972092 [GRCh38] Chr1:220145433..220145434 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.4250C>T (p.Ser1417Phe) | single nucleotide variant | not provided [RCV002238393] | Chr1:219972142 [GRCh38] Chr1:220145484 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.4245-16T>C | single nucleotide variant | not provided [RCV002238394] | Chr1:219972163 [GRCh38] Chr1:220145505 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.4206A>G (p.Gln1402=) | single nucleotide variant | not provided [RCV002238395] | Chr1:219973276 [GRCh38] Chr1:220146618 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.4018C>T (p.Arg1340Cys) | single nucleotide variant | not provided [RCV002238396] | Chr1:219978611 [GRCh38] Chr1:220151953 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3763G>A (p.Val1255Ile) | single nucleotide variant | not provided [RCV002238400] | Chr1:219979564 [GRCh38] Chr1:220152906 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3633G>A (p.Thr1211=) | single nucleotide variant | not provided [RCV002238401] | Chr1:219980163 [GRCh38] Chr1:220153505 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.3548C>T (p.Ala1183Val) | single nucleotide variant | not provided [RCV002238402] | Chr1:219980763 [GRCh38] Chr1:220154105 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3374-11G>A | single nucleotide variant | not provided [RCV002238403] | Chr1:219981468 [GRCh38] Chr1:220154810 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.3331G>A (p.Glu1111Lys) | single nucleotide variant | not provided [RCV002238405] | Chr1:219982814 [GRCh38] Chr1:220156156 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3183G>A (p.Lys1061=) | single nucleotide variant | not provided [RCV002238414] | Chr1:219983306 [GRCh38] Chr1:220156648 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.3091-9T>G | single nucleotide variant | not provided [RCV002238423] | Chr1:219983407 [GRCh38] Chr1:220156749 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.3039-4G>T | single nucleotide variant | not provided [RCV002238427] | Chr1:219984261 [GRCh38] Chr1:220157603 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.2927A>G (p.Asn976Ser) | single nucleotide variant | not provided [RCV002238437] | Chr1:219987253 [GRCh38] Chr1:220160595 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2905_2908del (p.Glu969fs) | deletion | not provided [RCV002238438] | Chr1:219987272..219987275 [GRCh38] Chr1:220160614..220160617 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2773A>C (p.Lys925Gln) | single nucleotide variant | not provided [RCV002238443] | Chr1:219988592 [GRCh38] Chr1:220161934 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.2703G>A (p.Ala901=) | single nucleotide variant | not provided [RCV002238446] | Chr1:219988662 [GRCh38] Chr1:220162004 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.2425G>A (p.Gly809Arg) | single nucleotide variant | not provided [RCV002238461] | Chr1:219997099 [GRCh38] Chr1:220170441 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2229T>G (p.Asn743Lys) | single nucleotide variant | not provided [RCV002238469] | Chr1:219997295 [GRCh38] Chr1:220170637 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2228A>G (p.Asn743Ser) | single nucleotide variant | not provided [RCV002238471] | Chr1:219997296 [GRCh38] Chr1:220170638 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2181+14C>T | single nucleotide variant | not provided [RCV002238478] | Chr1:220001124 [GRCh38] Chr1:220174466 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.1940A>G (p.Lys647Arg) | single nucleotide variant | not provided [RCV002238484] | Chr1:220006116 [GRCh38] Chr1:220179458 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.1914C>T (p.Asp638=) | single nucleotide variant | not provided [RCV002238485] | Chr1:220006142 [GRCh38] Chr1:220179484 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.1637A>G (p.Tyr546Cys) | single nucleotide variant | not provided [RCV002238487] | Chr1:220007307 [GRCh38] Chr1:220180649 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.1349+11T>G | single nucleotide variant | not provided [RCV002238492] | Chr1:220019977 [GRCh38] Chr1:220193319 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.1296G>A (p.Val432=) | single nucleotide variant | not provided [RCV002238494] | Chr1:220020041 [GRCh38] Chr1:220193383 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.1134T>A (p.Asp378Glu) | single nucleotide variant | not provided [RCV002238495] | Chr1:220020203 [GRCh38] Chr1:220193545 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.1128A>G (p.Thr376=) | single nucleotide variant | not provided [RCV002238496] | Chr1:220020209 [GRCh38] Chr1:220193551 [GRCh37] Chr1:1q41 |
likely benign|uncertain significance |
NM_004446.3(EPRS1):c.1116-4C>G | single nucleotide variant | not provided [RCV002238497] | Chr1:220020225 [GRCh38] Chr1:220193567 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.873G>A (p.Val291=) | single nucleotide variant | not provided [RCV002238498] | Chr1:220024334 [GRCh38] Chr1:220197676 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.859G>A (p.Gly287Arg) | single nucleotide variant | not provided [RCV002238499] | Chr1:220024348 [GRCh38] Chr1:220197690 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.750+7A>G | single nucleotide variant | not provided [RCV002238501] | Chr1:220025125 [GRCh38] Chr1:220198467 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.732A>G (p.Glu244=) | single nucleotide variant | not provided [RCV002238502] | Chr1:220025150 [GRCh38] Chr1:220198492 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.700A>G (p.Met234Val) | single nucleotide variant | not provided [RCV002238503] | Chr1:220025182 [GRCh38] Chr1:220198524 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.624-8T>C | single nucleotide variant | not provided [RCV002238504] | Chr1:220025266 [GRCh38] Chr1:220198608 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.579G>A (p.Ala193=) | single nucleotide variant | not provided [RCV002238505] | Chr1:220030430 [GRCh38] Chr1:220203772 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.561T>A (p.Phe187Leu) | single nucleotide variant | Inborn genetic diseases [RCV003269136]|not provided [RCV002238506] | Chr1:220030448 [GRCh38] Chr1:220203790 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.132-18C>T | single nucleotide variant | not provided [RCV002238513] | Chr1:220035031 [GRCh38] Chr1:220208373 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.58G>A (p.Ala20Thr) | single nucleotide variant | not provided [RCV002238516] | Chr1:220040258 [GRCh38] Chr1:220213600 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.4077G>A (p.Glu1359=) | single nucleotide variant | not provided [RCV002239489] | Chr1:219978552 [GRCh38] Chr1:220151894 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.4020C>T (p.Arg1340=) | single nucleotide variant | not provided [RCV002239491] | Chr1:219978609 [GRCh38] Chr1:220151951 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.3246G>A (p.Val1082=) | single nucleotide variant | not provided [RCV002239492] | Chr1:219983243 [GRCh38] Chr1:220156585 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.3121C>T (p.His1041Tyr) | single nucleotide variant | not provided [RCV002239497] | Chr1:219983368 [GRCh38] Chr1:220156710 [GRCh37] Chr1:1q41 |
likely benign|uncertain significance |
NM_004446.3(EPRS1):c.2859G>C (p.Val953=) | single nucleotide variant | not provided [RCV002239503] | Chr1:219987321 [GRCh38] Chr1:220160663 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.2317C>A (p.Pro773Thr) | single nucleotide variant | not provided [RCV002239514] | Chr1:219997207 [GRCh38] Chr1:220170549 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2210C>T (p.Thr737Ile) | single nucleotide variant | not provided [RCV002239515] | Chr1:219997314 [GRCh38] Chr1:220170656 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.4488C>T (p.Val1496=) | single nucleotide variant | not provided [RCV002238389] | Chr1:219968857 [GRCh38] Chr1:220142199 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.4439G>A (p.Cys1480Tyr) | single nucleotide variant | not provided [RCV002238390] | Chr1:219968906 [GRCh38] Chr1:220142248 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3806A>G (p.Tyr1269Cys) | single nucleotide variant | not provided [RCV002238397] | Chr1:219979521 [GRCh38] Chr1:220152863 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.3781A>G (p.Ile1261Val) | single nucleotide variant | not provided [RCV002238398] | Chr1:219979546 [GRCh38] Chr1:220152888 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3776C>G (p.Pro1259Arg) | single nucleotide variant | not provided [RCV002238399] | Chr1:219979551 [GRCh38] Chr1:220152893 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3334C>T (p.Leu1112=) | single nucleotide variant | not provided [RCV002238404] | Chr1:219982811 [GRCh38] Chr1:220156153 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.3301-5A>C | single nucleotide variant | not provided [RCV002238406] | Chr1:219982849 [GRCh38] Chr1:220156191 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.3188T>C (p.Phe1063Ser) | single nucleotide variant | not provided [RCV002238408] | Chr1:219983301 [GRCh38] Chr1:220156643 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2949T>C (p.Asp983=) | single nucleotide variant | not provided [RCV002238435] | Chr1:219987231 [GRCh38] Chr1:220160573 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.2648C>T (p.Ser883Leu) | single nucleotide variant | not provided [RCV002238456] | Chr1:219988717 [GRCh38] Chr1:220162059 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2584G>C (p.Ala862Pro) | single nucleotide variant | not provided [RCV002238458] | Chr1:219988781 [GRCh38] Chr1:220162123 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.2405G>T (p.Gly802Val) | single nucleotide variant | not provided [RCV002238463] | Chr1:219997119 [GRCh38] Chr1:220170461 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2387G>T (p.Gly796Val) | single nucleotide variant | not provided [RCV002238464] | Chr1:219997137 [GRCh38] Chr1:220170479 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2181+19A>G | single nucleotide variant | not provided [RCV002238474] | Chr1:220001119 [GRCh38] Chr1:220174461 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.2141G>A (p.Gly714Glu) | single nucleotide variant | not provided [RCV002238479] | Chr1:220001178 [GRCh38] Chr1:220174520 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2135C>T (p.Thr712Ile) | single nucleotide variant | not provided [RCV002238480] | Chr1:220001184 [GRCh38] Chr1:220174526 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2088G>A (p.Pro696=) | single nucleotide variant | not provided [RCV002238481] | Chr1:220001231 [GRCh38] Chr1:220174573 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.2064-17C>T | single nucleotide variant | not provided [RCV002238482] | Chr1:220001272 [GRCh38] Chr1:220174614 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.2003A>G (p.Asp668Gly) | single nucleotide variant | not provided [RCV002238483] | Chr1:220005308 [GRCh38] Chr1:220178650 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.1742+11T>C | single nucleotide variant | not provided [RCV002238486] | Chr1:220007191 [GRCh38] Chr1:220180533 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.1605+10A>G | single nucleotide variant | not provided [RCV002238488] | Chr1:220010936 [GRCh38] Chr1:220184278 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.1495-10T>C | single nucleotide variant | not provided [RCV002238489] | Chr1:220011066 [GRCh38] Chr1:220184408 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.1494+20G>A | single nucleotide variant | not provided [RCV002238490] | Chr1:220018429 [GRCh38] Chr1:220191771 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.1350-10A>G | single nucleotide variant | not provided [RCV002238491] | Chr1:220019089 [GRCh38] Chr1:220192431 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.1328A>G (p.Asn443Ser) | single nucleotide variant | not provided [RCV002238493] | Chr1:220020009 [GRCh38] Chr1:220193351 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.795A>G (p.Gln265=) | single nucleotide variant | not provided [RCV002238500] | Chr1:220024412 [GRCh38] Chr1:220197754 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.528+14dup | duplication | not provided [RCV002238507] | Chr1:220032372..220032373 [GRCh38] Chr1:220205714..220205715 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.388+18T>C | single nucleotide variant | not provided [RCV002238508] | Chr1:220033484 [GRCh38] Chr1:220206826 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.388+5C>T | single nucleotide variant | not provided [RCV002238509] | Chr1:220033497 [GRCh38] Chr1:220206839 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.189T>C (p.Thr63=) | single nucleotide variant | not provided [RCV002238510] | Chr1:220034956 [GRCh38] Chr1:220208298 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.189T>A (p.Thr63=) | single nucleotide variant | not provided [RCV002238511] | Chr1:220034956 [GRCh38] Chr1:220208298 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.142T>A (p.Phe48Ile) | single nucleotide variant | not provided [RCV002238512] | Chr1:220035003 [GRCh38] Chr1:220208345 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.93C>T (p.Ser31=) | single nucleotide variant | not provided [RCV002238514] | Chr1:220040223 [GRCh38] Chr1:220213565 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.79G>A (p.Asp27Asn) | single nucleotide variant | not provided [RCV002238515] | Chr1:220040237 [GRCh38] Chr1:220213579 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.4151G>A (p.Arg1384Gln) | single nucleotide variant | not provided [RCV002239487] | Chr1:219973331 [GRCh38] Chr1:220146673 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.4143C>T (p.Ala1381=) | single nucleotide variant | not provided [RCV002239488] | Chr1:219973339 [GRCh38] Chr1:220146681 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.4033T>A (p.Leu1345Ile) | single nucleotide variant | not provided [RCV002239490] | Chr1:219978596 [GRCh38] Chr1:220151938 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3014_3015delinsTA (p.Gly1005Val) | indel | not provided [RCV002239501] | Chr1:219987165..219987166 [GRCh38] Chr1:220160507..220160508 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2797C>G (p.Gln933Glu) | single nucleotide variant | not provided [RCV002239504] | Chr1:219987383 [GRCh38] Chr1:220160725 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2747G>A (p.Arg916Gln) | single nucleotide variant | Leukodystrophy, hypomyelinating, 15 [RCV002471261]|not provided [RCV002239506] | Chr1:219988618 [GRCh38] Chr1:220161960 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2598A>G (p.Glu866=) | single nucleotide variant | not provided [RCV002239512] | Chr1:219988767 [GRCh38] Chr1:220162109 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.1819G>C (p.Val607Leu) | single nucleotide variant | not provided [RCV002239519] | Chr1:220006237 [GRCh38] Chr1:220179579 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.1749A>G (p.Ala583=) | single nucleotide variant | not provided [RCV002239520] | Chr1:220006307 [GRCh38] Chr1:220179649 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.1743-6A>G | single nucleotide variant | not provided [RCV002239521] | Chr1:220006319 [GRCh38] Chr1:220179661 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.1084C>G (p.Gln362Glu) | single nucleotide variant | not provided [RCV002239522] | Chr1:220022378 [GRCh38] Chr1:220195720 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.970G>A (p.Glu324Lys) | single nucleotide variant | not provided [RCV002239523] | Chr1:220022492 [GRCh38] Chr1:220195834 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.964A>G (p.Met322Val) | single nucleotide variant | not provided [RCV002239524] | Chr1:220022498 [GRCh38] Chr1:220195840 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.900A>G (p.Lys300=) | single nucleotide variant | not provided [RCV002239525] | Chr1:220024307 [GRCh38] Chr1:220197649 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.883C>T (p.Pro295Ser) | single nucleotide variant | not provided [RCV002239526] | Chr1:220024324 [GRCh38] Chr1:220197666 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.345C>T (p.Asn115=) | single nucleotide variant | not provided [RCV002239527] | Chr1:220033545 [GRCh38] Chr1:220206887 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.231+6C>T | single nucleotide variant | not provided [RCV002239529] | Chr1:220034908 [GRCh38] Chr1:220208250 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.227C>T (p.Thr76Ile) | single nucleotide variant | not provided [RCV002239530] | Chr1:220034918 [GRCh38] Chr1:220208260 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2950G>A (p.Gly984Ser) | single nucleotide variant | See cases [RCV002252440] | Chr1:219987230 [GRCh38] Chr1:220160572 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.1745A>G (p.Asn582Ser) | single nucleotide variant | not provided [RCV001814680] | Chr1:220006311 [GRCh38] Chr1:220179653 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3832C>T (p.Arg1278Ter) | single nucleotide variant | Leukodystrophy, hypomyelinating, 15 [RCV001814812]|not provided [RCV002541499] | Chr1:219979495 [GRCh38] Chr1:220152837 [GRCh37] Chr1:1q41 |
likely pathogenic|uncertain significance |
Single allele | deletion | Loeys-Dietz syndrome 4 [RCV001837015] | Chr1:215199578..223035427 [GRCh37] Chr1:1q41 |
pathogenic |
Single allele | deletion | Loeys-Dietz syndrome 4 [RCV001837012] | Chr1:216243817..220231236 [GRCh37] Chr1:1q41 |
pathogenic |
GRCh37/hg19 1q41(chr1:220070126-220600061)x3 | copy number gain | not provided [RCV001829108] | Chr1:220070126..220600061 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2293C>T (p.Arg765Cys) | single nucleotide variant | Inborn genetic diseases [RCV003162170]|not provided [RCV003116128] | Chr1:219997231 [GRCh38] Chr1:220170573 [GRCh37] Chr1:1q41 |
uncertain significance |
NC_000001.10:g.(?_220088791)_(220406225_?)dup | duplication | Martsolf syndrome [RCV003116595] | Chr1:220088791..220406225 [GRCh37] Chr1:1q41 |
uncertain significance |
NC_000001.10:g.(?_218520044)_(220986760_?)del | deletion | Martsolf syndrome [RCV003116596] | Chr1:218520044..220986760 [GRCh37] Chr1:1q41 |
pathogenic |
NM_004446.3(EPRS1):c.901G>A (p.Ala301Thr) | single nucleotide variant | not provided [RCV003115135] | Chr1:220024306 [GRCh38] Chr1:220197648 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2747G>C (p.Arg916Pro) | single nucleotide variant | not provided [RCV003118568] | Chr1:219988618 [GRCh38] Chr1:220161960 [GRCh37] Chr1:1q41 |
uncertain significance |
NC_000001.10:g.(?_220088791)_(220445679_?)del | deletion | not provided [RCV003119869] | Chr1:220088791..220445679 [GRCh37] Chr1:1q41 |
pathogenic |
NC_000001.10:g.(?_220088791)_(220986760_?)dup | duplication | not provided [RCV003119870] | Chr1:220088791..220986760 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.635T>C (p.Ile212Thr) | single nucleotide variant | Global developmental delay [RCV003126215] | Chr1:220025247 [GRCh38] Chr1:220198589 [GRCh37] Chr1:1q41 |
pathogenic |
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 | copy number gain | See cases [RCV002287837] | Chr1:197867914..249224684 [GRCh37] Chr1:1q31.3-44 |
pathogenic |
NM_004446.3(EPRS1):c.2472A>C (p.Lys824Asn) | single nucleotide variant | Inborn genetic diseases [RCV003282678] | Chr1:219997052 [GRCh38] Chr1:220170394 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.1399A>G (p.Thr467Ala) | single nucleotide variant | Leukodystrophy, hypomyelinating, 15 [RCV003148252] | Chr1:220019030 [GRCh38] Chr1:220192372 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3404A>C (p.Gln1135Pro) | single nucleotide variant | Leukodystrophy, hypomyelinating, 15 [RCV002472196] | Chr1:219981427 [GRCh38] Chr1:220154769 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3189T>C (p.Phe1063=) | single nucleotide variant | not provided [RCV002616877] | Chr1:219983300 [GRCh38] Chr1:220156642 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.4238T>G (p.Phe1413Cys) | single nucleotide variant | not provided [RCV002615080] | Chr1:219973244 [GRCh38] Chr1:220146586 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3712-13C>T | single nucleotide variant | not provided [RCV002839386] | Chr1:219979628 [GRCh38] Chr1:220152970 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.3279T>C (p.His1093=) | single nucleotide variant | not provided [RCV002511609] | Chr1:219983210 [GRCh38] Chr1:220156552 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.1033A>G (p.Ser345Gly) | single nucleotide variant | not provided [RCV002616718] | Chr1:220022429 [GRCh38] Chr1:220195771 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.4441A>G (p.Ile1481Val) | single nucleotide variant | not provided [RCV002995335] | Chr1:219968904 [GRCh38] Chr1:220142246 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2279A>G (p.Gln760Arg) | single nucleotide variant | not provided [RCV002975144] | Chr1:219997245 [GRCh38] Chr1:220170587 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2049T>C (p.Pro683=) | single nucleotide variant | not provided [RCV002947159] | Chr1:220005262 [GRCh38] Chr1:220178604 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.4456C>T (p.Leu1486Phe) | single nucleotide variant | not provided [RCV003076022] | Chr1:219968889 [GRCh38] Chr1:220142231 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.520G>A (p.Ala174Thr) | single nucleotide variant | not provided [RCV002618449] | Chr1:220032395 [GRCh38] Chr1:220205737 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3396A>G (p.Lys1132=) | single nucleotide variant | not provided [RCV003013689] | Chr1:219981435 [GRCh38] Chr1:220154777 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.10C>T (p.Leu4Phe) | single nucleotide variant | not provided [RCV002947386] | Chr1:220046379 [GRCh38] Chr1:220219721 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.830T>C (p.Met277Thr) | single nucleotide variant | not provided [RCV002617552] | Chr1:220024377 [GRCh38] Chr1:220197719 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.94G>A (p.Val32Ile) | single nucleotide variant | not provided [RCV002615556] | Chr1:220040222 [GRCh38] Chr1:220213564 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3090+14C>T | single nucleotide variant | not provided [RCV002862599] | Chr1:219984192 [GRCh38] Chr1:220157534 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.3374-4del | deletion | not provided [RCV002947270] | Chr1:219981461 [GRCh38] Chr1:220154803 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.4019G>A (p.Arg1340His) | single nucleotide variant | not provided [RCV003015417] | Chr1:219978610 [GRCh38] Chr1:220151952 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2778T>C (p.Asp926=) | single nucleotide variant | not provided [RCV002755820] | Chr1:219987402 [GRCh38] Chr1:220160744 [GRCh37] Chr1:1q41 |
likely benign |
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 | copy number loss | Orofacial cleft 2 [RCV002481175] | Chr1:228006998..228061271 [GRCh38] Chr1:1q32.2-42.13 |
association |
NM_004446.3(EPRS1):c.732A>C (p.Glu244Asp) | single nucleotide variant | not provided [RCV002839256] | Chr1:220025150 [GRCh38] Chr1:220198492 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2716_2717delinsT (p.Asp906fs) | indel | not provided [RCV003014164] | Chr1:219988648..219988649 [GRCh38] Chr1:220161990..220161991 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.368G>A (p.Cys123Tyr) | single nucleotide variant | not provided [RCV002847896] | Chr1:220033522 [GRCh38] Chr1:220206864 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.4206A>C (p.Gln1402His) | single nucleotide variant | not provided [RCV002623065] | Chr1:219973276 [GRCh38] Chr1:220146618 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3060A>G (p.Lys1020=) | single nucleotide variant | not provided [RCV003035987] | Chr1:219984236 [GRCh38] Chr1:220157578 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.388+20A>G | single nucleotide variant | not provided [RCV002570262] | Chr1:220033482 [GRCh38] Chr1:220206824 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.3856G>C (p.Val1286Leu) | single nucleotide variant | not provided [RCV002871153] | Chr1:219979471 [GRCh38] Chr1:220152813 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.4292A>G (p.Glu1431Gly) | single nucleotide variant | not provided [RCV003055652] | Chr1:219972100 [GRCh38] Chr1:220145442 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.231+7A>C | single nucleotide variant | not provided [RCV003077645] | Chr1:220034907 [GRCh38] Chr1:220208249 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.3830C>T (p.Thr1277Ile) | single nucleotide variant | not provided [RCV002638648] | Chr1:219979497 [GRCh38] Chr1:220152839 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2877G>A (p.Glu959=) | single nucleotide variant | not provided [RCV002621693] | Chr1:219987303 [GRCh38] Chr1:220160645 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.1724A>G (p.Asn575Ser) | single nucleotide variant | not provided [RCV002976047] | Chr1:220007220 [GRCh38] Chr1:220180562 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.46+18A>G | single nucleotide variant | not provided [RCV002590508] | Chr1:220046325 [GRCh38] Chr1:220219667 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.4323+4AG[2] | microsatellite | not provided [RCV002658541] | Chr1:219972060..219972061 [GRCh38] Chr1:220145402..220145403 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.1434+8A>C | single nucleotide variant | not provided [RCV002866756] | Chr1:220018987 [GRCh38] Chr1:220192329 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.4528C>T (p.Arg1510Cys) | single nucleotide variant | not provided [RCV002636917] | Chr1:219968817 [GRCh38] Chr1:220142159 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.1655T>C (p.Ile552Thr) | single nucleotide variant | not provided [RCV002659548] | Chr1:220007289 [GRCh38] Chr1:220180631 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2241T>C (p.Ser747=) | single nucleotide variant | not provided [RCV002866257] | Chr1:219997283 [GRCh38] Chr1:220170625 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.4472C>T (p.Pro1491Leu) | single nucleotide variant | not provided [RCV002948647] | Chr1:219968873 [GRCh38] Chr1:220142215 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.117T>C (p.Ile39=) | single nucleotide variant | not provided [RCV002658925] | Chr1:220040199 [GRCh38] Chr1:220213541 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.1495-10T>A | single nucleotide variant | not provided [RCV003080636] | Chr1:220011066 [GRCh38] Chr1:220184408 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.3775C>G (p.Pro1259Ala) | single nucleotide variant | not provided [RCV002885786] | Chr1:219979552 [GRCh38] Chr1:220152894 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.1371G>T (p.Thr457=) | single nucleotide variant | not provided [RCV002790993] | Chr1:220019058 [GRCh38] Chr1:220192400 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.61G>A (p.Val21Ile) | single nucleotide variant | not provided [RCV002710152] | Chr1:220040255 [GRCh38] Chr1:220213597 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.4230C>T (p.Val1410=) | single nucleotide variant | not provided [RCV002958822] | Chr1:219973252 [GRCh38] Chr1:220146594 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.2552A>G (p.Asn851Ser) | single nucleotide variant | not provided [RCV003040500] | Chr1:219988813 [GRCh38] Chr1:220162155 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3910-3T>C | single nucleotide variant | not provided [RCV003024097] | Chr1:219978722 [GRCh38] Chr1:220152064 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2775+5G>A | single nucleotide variant | not provided [RCV002932514] | Chr1:219988585 [GRCh38] Chr1:220161927 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.1951-8C>G | single nucleotide variant | not provided [RCV002643649] | Chr1:220005368 [GRCh38] Chr1:220178710 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.4241C>A (p.Thr1414Lys) | single nucleotide variant | not provided [RCV002740698] | Chr1:219973241 [GRCh38] Chr1:220146583 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3712-15C>G | single nucleotide variant | not provided [RCV002800790] | Chr1:219979630 [GRCh38] Chr1:220152972 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.2881A>G (p.Lys961Glu) | single nucleotide variant | not provided [RCV002710563] | Chr1:219987299 [GRCh38] Chr1:220160641 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.1950+18C>G | single nucleotide variant | not provided [RCV002594875] | Chr1:220006088 [GRCh38] Chr1:220179430 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.1494+1G>T | single nucleotide variant | not provided [RCV002766348] | Chr1:220018448 [GRCh38] Chr1:220191790 [GRCh37] Chr1:1q41 |
likely pathogenic|uncertain significance |
NM_004446.3(EPRS1):c.1494+14CT[2] | microsatellite | not provided [RCV002626924] | Chr1:220018430..220018431 [GRCh38] Chr1:220191772..220191773 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.3556-16A>G | single nucleotide variant | not provided [RCV002700168] | Chr1:219980256 [GRCh38] Chr1:220153598 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.3261A>G (p.Leu1087=) | single nucleotide variant | not provided [RCV003007673] | Chr1:219983228 [GRCh38] Chr1:220156570 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.2338G>T (p.Ala780Ser) | single nucleotide variant | not provided [RCV003005816] | Chr1:219997186 [GRCh38] Chr1:220170528 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3256G>A (p.Ala1086Thr) | single nucleotide variant | not provided [RCV003005839] | Chr1:219983233 [GRCh38] Chr1:220156575 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.181G>C (p.Val61Leu) | single nucleotide variant | not provided [RCV002574922] | Chr1:220034964 [GRCh38] Chr1:220208306 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.1912G>A (p.Asp638Asn) | single nucleotide variant | not provided [RCV002982453] | Chr1:220006144 [GRCh38] Chr1:220179486 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.4529G>A (p.Arg1510His) | single nucleotide variant | not provided [RCV002580163] | Chr1:219968816 [GRCh38] Chr1:220142158 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2140G>T (p.Gly714Trp) | single nucleotide variant | not provided [RCV002647376] | Chr1:220001179 [GRCh38] Chr1:220174521 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3662A>C (p.Tyr1221Ser) | single nucleotide variant | not provided [RCV003031546] | Chr1:219980134 [GRCh38] Chr1:220153476 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2541+7A>C | single nucleotide variant | not provided [RCV002835299] | Chr1:219996976 [GRCh38] Chr1:220170318 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.1371G>A (p.Thr457=) | single nucleotide variant | not provided [RCV002597992] | Chr1:220019058 [GRCh38] Chr1:220192400 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.99A>G (p.Glu33=) | single nucleotide variant | not provided [RCV002720501] | Chr1:220040217 [GRCh38] Chr1:220213559 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.960A>G (p.Leu320=) | single nucleotide variant | not provided [RCV002599038] | Chr1:220022502 [GRCh38] Chr1:220195844 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.408A>C (p.Glu136Asp) | single nucleotide variant | not provided [RCV002857291] | Chr1:220032507 [GRCh38] Chr1:220205849 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3933T>C (p.Ile1311=) | single nucleotide variant | not provided [RCV002599662] | Chr1:219978696 [GRCh38] Chr1:220152038 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.208T>G (p.Ser70Ala) | single nucleotide variant | not provided [RCV003046773] | Chr1:220034937 [GRCh38] Chr1:220208279 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.1189A>G (p.Thr397Ala) | single nucleotide variant | not provided [RCV002647108] | Chr1:220020148 [GRCh38] Chr1:220193490 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.1116-5del | deletion | not provided [RCV002811564] | Chr1:220020226 [GRCh38] Chr1:220193568 [GRCh37] Chr1:1q41 |
benign |
NM_004446.3(EPRS1):c.46+9C>T | single nucleotide variant | not provided [RCV002746550] | Chr1:220046334 [GRCh38] Chr1:220219676 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.4092C>T (p.Pro1364=) | single nucleotide variant | not provided [RCV002599094] | Chr1:219973390 [GRCh38] Chr1:220146732 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.3910-8G>A | single nucleotide variant | not provided [RCV002576900] | Chr1:219978727 [GRCh38] Chr1:220152069 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.3858T>A (p.Val1286=) | single nucleotide variant | not provided [RCV002647043] | Chr1:219979469 [GRCh38] Chr1:220152811 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.3974C>A (p.Ala1325Glu) | single nucleotide variant | not provided [RCV002675503] | Chr1:219978655 [GRCh38] Chr1:220151997 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3229T>G (p.Tyr1077Asp) | single nucleotide variant | not provided [RCV002857331] | Chr1:219983260 [GRCh38] Chr1:220156602 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.4233C>T (p.Thr1411=) | single nucleotide variant | not provided [RCV002939001] | Chr1:219973249 [GRCh38] Chr1:220146591 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.4144G>A (p.Val1382Ile) | single nucleotide variant | not provided [RCV002895487] | Chr1:219973338 [GRCh38] Chr1:220146680 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3632C>T (p.Thr1211Met) | single nucleotide variant | not provided [RCV002631217] | Chr1:219980164 [GRCh38] Chr1:220153506 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3556-5T>C | single nucleotide variant | not provided [RCV002720654] | Chr1:219980245 [GRCh38] Chr1:220153587 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.2619A>T (p.Ile873=) | single nucleotide variant | not provided [RCV003087225] | Chr1:219988746 [GRCh38] Chr1:220162088 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.132-15G>A | single nucleotide variant | not provided [RCV002597884] | Chr1:220035028 [GRCh38] Chr1:220208370 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.3513A>G (p.Glu1171=) | single nucleotide variant | not provided [RCV002857187] | Chr1:219980798 [GRCh38] Chr1:220154140 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.3746C>T (p.Ser1249Phe) | single nucleotide variant | not provided [RCV002649893] | Chr1:219979581 [GRCh38] Chr1:220152923 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.623+11G>A | single nucleotide variant | not provided [RCV003049950] | Chr1:220030375 [GRCh38] Chr1:220203717 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.2405G>A (p.Gly802Glu) | single nucleotide variant | Inborn genetic diseases [RCV003167610]|not provided [RCV002654339] | Chr1:219997119 [GRCh38] Chr1:220170461 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.943C>T (p.Pro315Ser) | single nucleotide variant | not provided [RCV002582711] | Chr1:220024264 [GRCh38] Chr1:220197606 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.907C>T (p.Arg303Cys) | single nucleotide variant | not provided [RCV003052443] | Chr1:220024300 [GRCh38] Chr1:220197642 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3853A>G (p.Met1285Val) | single nucleotide variant | not provided [RCV003052171] | Chr1:219979474 [GRCh38] Chr1:220152816 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3651A>G (p.Ala1217=) | single nucleotide variant | not provided [RCV002657842] | Chr1:219980145 [GRCh38] Chr1:220153487 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.2606G>T (p.Gly869Val) | single nucleotide variant | not provided [RCV003066844] | Chr1:219988759 [GRCh38] Chr1:220162101 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.1128A>C (p.Thr376=) | single nucleotide variant | not provided [RCV002586611] | Chr1:220020209 [GRCh38] Chr1:220193551 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.231+8A>G | single nucleotide variant | not provided [RCV002635297] | Chr1:220034906 [GRCh38] Chr1:220208248 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.3252A>G (p.Gln1084=) | single nucleotide variant | not provided [RCV002814948] | Chr1:219983237 [GRCh38] Chr1:220156579 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.3555+20A>C | single nucleotide variant | not provided [RCV002604345] | Chr1:219980736 [GRCh38] Chr1:220154078 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.4067A>G (p.Asn1356Ser) | single nucleotide variant | Inborn genetic diseases [RCV003250779]|not provided [RCV002610212] | Chr1:219978562 [GRCh38] Chr1:220151904 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.1744A>G (p.Asn582Asp) | single nucleotide variant | not provided [RCV002657859] | Chr1:220006312 [GRCh38] Chr1:220179654 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.1840A>G (p.Thr614Ala) | single nucleotide variant | not provided [RCV002606966] | Chr1:220006216 [GRCh38] Chr1:220179558 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.1126A>G (p.Thr376Ala) | single nucleotide variant | not provided [RCV002653861] | Chr1:220020211 [GRCh38] Chr1:220193553 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.534T>G (p.Pro178=) | single nucleotide variant | not provided [RCV002586334] | Chr1:220030475 [GRCh38] Chr1:220203817 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.2703G>C (p.Ala901=) | single nucleotide variant | not provided [RCV002607968] | Chr1:219988662 [GRCh38] Chr1:220162004 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.804T>C (p.Tyr268=) | single nucleotide variant | not provided [RCV002585472] | Chr1:220024403 [GRCh38] Chr1:220197745 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.3712-15CT[2] | microsatellite | not provided [RCV002610879] | Chr1:219979623..219979626 [GRCh38] Chr1:220152965..220152968 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.1549C>A (p.Pro517Thr) | single nucleotide variant | not provided [RCV002611551] | Chr1:220011002 [GRCh38] Chr1:220184344 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.2548A>T (p.Ile850Leu) | single nucleotide variant | not provided [RCV002604185] | Chr1:219988817 [GRCh38] Chr1:220162159 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3992G>A (p.Arg1331Gln) | single nucleotide variant | not provided [RCV003073162] | Chr1:219978637 [GRCh38] Chr1:220151979 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.1726A>C (p.Ile576Leu) | single nucleotide variant | not provided [RCV002610695] | Chr1:220007218 [GRCh38] Chr1:220180560 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.4361A>G (p.Glu1454Gly) | single nucleotide variant | Leukodystrophy, hypomyelinating, 15 [RCV003147102] | Chr1:219969085 [GRCh38] Chr1:220142427 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2929A>G (p.Lys977Glu) | single nucleotide variant | Leukodystrophy, hypomyelinating, 15 [RCV003147103] | Chr1:219987251 [GRCh38] Chr1:220160593 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2611G>A (p.Glu871Lys) | single nucleotide variant | Inborn genetic diseases [RCV003213645] | Chr1:219988754 [GRCh38] Chr1:220162096 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2430G>C (p.Gln810His) | single nucleotide variant | Inborn genetic diseases [RCV003209961] | Chr1:219997094 [GRCh38] Chr1:220170436 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.2314G>C (p.Ala772Pro) | single nucleotide variant | Inborn genetic diseases [RCV003194829] | Chr1:219997210 [GRCh38] Chr1:220170552 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.619A>T (p.Ser207Cys) | single nucleotide variant | Leukodystrophy, hypomyelinating, 15 [RCV003448517] | Chr1:220030390 [GRCh38] Chr1:220203732 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.1783A>G (p.Asn595Asp) | single nucleotide variant | Inborn genetic diseases [RCV003344529] | Chr1:220006273 [GRCh38] Chr1:220179615 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.4130G>A (p.Cys1377Tyr) | single nucleotide variant | Inborn genetic diseases [RCV003347876] | Chr1:219973352 [GRCh38] Chr1:220146694 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.3155G>A (p.Trp1052Ter) | single nucleotide variant | not provided [RCV003571136] | Chr1:219983334 [GRCh38] Chr1:220156676 [GRCh37] Chr1:1q41 |
pathogenic |
GRCh37/hg19 1q41(chr1:214853277-222111742)x1 | copy number loss | not provided [RCV003484033] | Chr1:214853277..222111742 [GRCh37] Chr1:1q41 |
pathogenic |
NM_004446.3(EPRS1):c.641A>G (p.His214Arg) | single nucleotide variant | Leukodystrophy, hypomyelinating, 15 [RCV003448516] | Chr1:220025241 [GRCh38] Chr1:220198583 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_004446.3(EPRS1):c.1683G>A (p.Ser561=) | single nucleotide variant | not provided [RCV003414777] | Chr1:220007261 [GRCh38] Chr1:220180603 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.1938C>T (p.Asn646=) | single nucleotide variant | not provided [RCV003662733] | Chr1:220006118 [GRCh38] Chr1:220179460 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.3942A>C (p.Ala1314=) | single nucleotide variant | not provided [RCV003686948] | Chr1:219978687 [GRCh38] Chr1:220152029 [GRCh37] Chr1:1q41 |
likely benign |
NM_004446.3(EPRS1):c.4058G>A (p.Trp1353Ter) | single nucleotide variant | not provided [RCV003713561] | Chr1:219978571 [GRCh38] Chr1:220151913 [GRCh37] Chr1:1q41 |
pathogenic |
NM_004446.3(EPRS1):c.4299T>C (p.Phe1433=) | single nucleotide variant | not provided [RCV003824501] | Chr1:219972093 [GRCh38] Chr1:220145435 [GRCh37] Chr1:1q41 |
likely benign |
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. |
HUM000S513 |
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AL033652 |
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SHGC-79732 |
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SHGC-142608 |
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G34844 |
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SHGC-11953 |
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G34812 |
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RH70835 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 2423 | 2329 | 1583 | 494 | 1478 | 336 | 4355 | 2041 | 3402 | 381 | 1443 | 1602 | 171 | 1203 | 2788 | 4 | ||
Low | 14 | 662 | 143 | 130 | 473 | 129 | 2 | 156 | 332 | 38 | 16 | 11 | 4 | 1 | 1 | 2 | 2 | |
Below cutoff | 2 | 1 |
RefSeq Transcripts | NM_004446 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_017000614 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AA196283 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC103590 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK296755 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK298192 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK307534 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY493416 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC015494 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC034797 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC046156 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC058921 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC067841 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC105983 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC126275 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC136465 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471100 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR933648 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JQ080075 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
N85252 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X07466 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X54326 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X72396 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X72397 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X72398 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X72399 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X72400 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X72401 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X72402 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X72403 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X72404 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X72405 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X72406 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X72407 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X72408 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X72409 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X72410 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X72411 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X72412 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X72413 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X72414 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X72415 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X72416 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X72417 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X72418 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X72419 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X72420 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X72421 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000366923 ⟹ ENSP00000355890 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000464052 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000468487 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000477030 ⟹ ENSP00000477493 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000485821 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000609181 ⟹ ENSP00000477245 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_004446 ⟹ NP_004437 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_004437 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAH15494 | (Get FASTA) | NCBI Sequence Viewer |
AAH34797 | (Get FASTA) | NCBI Sequence Viewer | |
AAH46156 | (Get FASTA) | NCBI Sequence Viewer | |
AAH58921 | (Get FASTA) | NCBI Sequence Viewer | |
AAI05984 | (Get FASTA) | NCBI Sequence Viewer | |
AAI26276 | (Get FASTA) | NCBI Sequence Viewer | |
AAI36466 | (Get FASTA) | NCBI Sequence Viewer | |
AAS72877 | (Get FASTA) | NCBI Sequence Viewer | |
AFA28127 | (Get FASTA) | NCBI Sequence Viewer | |
BAG59337 | (Get FASTA) | NCBI Sequence Viewer | |
BAG60462 | (Get FASTA) | NCBI Sequence Viewer | |
CAA30354 | (Get FASTA) | NCBI Sequence Viewer | |
CAA38224 | (Get FASTA) | NCBI Sequence Viewer | |
CAI45949 | (Get FASTA) | NCBI Sequence Viewer | |
EAW93309 | (Get FASTA) | NCBI Sequence Viewer | |
EAW93310 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000355890 | ||
ENSP00000355890.3 | |||
ENSP00000477245.1 | |||
ENSP00000477493.1 | |||
GenBank Protein | P07814 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_004437 ⟸ NM_004446 |
- UniProtKB: | Q6PD57 (UniProtKB/Swiss-Prot), Q5H9S5 (UniProtKB/Swiss-Prot), Q5DSM1 (UniProtKB/Swiss-Prot), Q05DF8 (UniProtKB/Swiss-Prot), Q05BP6 (UniProtKB/Swiss-Prot), B9EGH3 (UniProtKB/Swiss-Prot), A0AVA9 (UniProtKB/Swiss-Prot), Q86X73 (UniProtKB/Swiss-Prot), P07814 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000477493 ⟸ ENST00000477030 |
RefSeq Acc Id: | ENSP00000477245 ⟸ ENST00000609181 |
RefSeq Acc Id: | ENSP00000355890 ⟸ ENST00000366923 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P07814-F1-model_v2 | AlphaFold | P07814 | 1-1512 | view protein structure |
RGD ID: | 6785541 | ||||||||
Promoter ID: | HG_KWN:7385 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | NM_004446, OTTHUMT00000091134, UC001HLZ.1, UC009XDT.1 | ||||||||
Position: |
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RGD ID: | 6859020 | ||||||||
Promoter ID: | EPDNEW_H2674 | ||||||||
Type: | initiation region | ||||||||
Name: | EPRS_1 | ||||||||
Description: | glutamyl-prolyl-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:3418 | AgrOrtholog |
COSMIC | EPRS1 | COSMIC |
Ensembl Genes | ENSG00000136628 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000366923 | ENTREZGENE |
ENST00000366923.8 | UniProtKB/Swiss-Prot | |
ENST00000477030.2 | UniProtKB/TrEMBL | |
ENST00000609181.5 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.1050.130 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
3.30.110.30 | UniProtKB/Swiss-Prot | |
3.40.50.620 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
3.40.50.800 | UniProtKB/Swiss-Prot | |
S15/NS1, RNA-binding | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000136628 | GTEx |
HGNC ID | HGNC:3418 | ENTREZGENE |
Human Proteome Map | EPRS1 | Human Proteome Map |
InterPro | aa-tRNA-synt_IIb | UniProtKB/Swiss-Prot |
aa-tRNA-synth_I_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
aa-tRNA-synth_II | UniProtKB/Swiss-Prot | |
aa-tRNA-synth_II/BPL/LPL | UniProtKB/Swiss-Prot | |
Anticodon-bd | UniProtKB/Swiss-Prot | |
Anticodon-bd_dom_sf | UniProtKB/Swiss-Prot | |
EEF1E1 | UniProtKB/TrEMBL | |
Glu-tRNA-synth_arc/euk | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Glu/Gln-tRNA-synth | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Glu/Gln-tRNA-synth_Ib_cat-dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Glu/Gln-tRNA-synth_Ib_codon-bd | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Glu_tRNA_lig_a-bdl | UniProtKB/TrEMBL | |
Glutathione-S-Trfase_C_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GST_C | UniProtKB/TrEMBL | |
Pro-tRNA-ligase_IIa_arc-type | UniProtKB/Swiss-Prot | |
Pro-tRNA_ligase_II_C | UniProtKB/Swiss-Prot | |
Pro-tRNA_synth_II | UniProtKB/Swiss-Prot | |
ProRS_core_arch_euk | UniProtKB/Swiss-Prot | |
Rbsml_L25/Gln-tRNA_synth_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ribosomal_L25/Gln-tRNA_synth | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Rossmann-like_a/b/a_fold | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
S15_NS1_RNA-bd | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
tRNA-synt_1c_C2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
WHEP-TRS_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:2058 | UniProtKB/Swiss-Prot |
NCBI Gene | 2058 | ENTREZGENE |
OMIM | 138295 | OMIM |
PANTHER | BIFUNCTIONAL GLUTAMATE/PROLINE--TRNA LIGASE | UniProtKB/Swiss-Prot |
EUKARYOTIC TRANSLATION ELONGATION FACTOR 1 EPSILON-1 | UniProtKB/TrEMBL | |
EUKARYOTIC TRANSLATION ELONGATION FACTOR 1 EPSILON-1 | UniProtKB/TrEMBL | |
GLUTAMINE-TRNA LIGASE | UniProtKB/TrEMBL | |
GLUTAMYL-TRNA SYNTHETASE | UniProtKB/TrEMBL | |
PTHR43382 | UniProtKB/Swiss-Prot | |
Pfam | GST_C | UniProtKB/TrEMBL |
HGTP_anticodon | UniProtKB/Swiss-Prot | |
ProRS-C_1 | UniProtKB/Swiss-Prot | |
tRNA-synt_1c | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
tRNA-synt_1c_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
tRNA-synt_1c_C2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
tRNA-synt_2b | UniProtKB/Swiss-Prot | |
WHEP-TRS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA27837 | PharmGKB |
PRINTS | TRNASYNTHGLU | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | AA_TRNA_LIGASE_I | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
AA_TRNA_LIGASE_II | UniProtKB/Swiss-Prot | |
WHEP_TRS_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
WHEP_TRS_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | ProRS-C_1 | UniProtKB/Swiss-Prot |
WHEP-TRS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | Class II aaRS ABD-related | UniProtKB/Swiss-Prot |
Nucleotidylyl transferase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF47060 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF47616 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF50715 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF55681 | UniProtKB/Swiss-Prot | |
SSF64586 | UniProtKB/Swiss-Prot | |
UniProt | A0AVA9 | ENTREZGENE |
B9EGH3 | ENTREZGENE | |
P07814 | ENTREZGENE | |
Q05BP6 | ENTREZGENE | |
Q05DF8 | ENTREZGENE | |
Q5DSM1 | ENTREZGENE | |
Q5H9S5 | ENTREZGENE | |
Q6PD57 | ENTREZGENE | |
Q86X73 | ENTREZGENE | |
SYEP_HUMAN | UniProtKB/Swiss-Prot | |
V9GYZ6_HUMAN | UniProtKB/TrEMBL | |
V9GZ76_HUMAN | UniProtKB/TrEMBL | |
UniProt Secondary | A0AVA9 | UniProtKB/Swiss-Prot |
B9EGH3 | UniProtKB/Swiss-Prot | |
Q05BP6 | UniProtKB/Swiss-Prot | |
Q05DF8 | UniProtKB/Swiss-Prot | |
Q5DSM1 | UniProtKB/Swiss-Prot | |
Q5H9S5 | UniProtKB/Swiss-Prot | |
Q6PD57 | UniProtKB/Swiss-Prot | |
Q86X73 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2019-08-20 | EPRS1 | glutamyl-prolyl-tRNA synthetase 1 | EPRS | glutamyl-prolyl-tRNA synthetase | Symbol and/or name change | 5135510 | APPROVED |