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Gene: KARS1 (lysyl-tRNA synthetase 1) Homo sapiens

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Symbol:

KARS1

Name:

lysyl-tRNA synthetase 1

RGD ID:

1345099

HGNC Page

HGNC:6215

Description:

Enables ATP:ADP adenylyltransferase activity; lysine-tRNA ligase activity; and protein homodimerization activity. Involved in several processes, including ERK1 and ERK2 cascade; diadenosine tetraphosphate biosynthetic process; and lysyl-tRNA aminoacylation. Located in several cellular components, including cytosol; extracellular space; and mitochondrion. Part of aminoacyl-tRNA synthetase multienzyme complex. Implicated in Charcot-Marie-Tooth disease recessive intermediate B and autosomal recessive nonsyndromic deafness 89.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

CMTRIB; DEAPLE; DFNB89; KARS; KARS2; KIAA0070; KRS; LEPID; lysine tRNA ligase; lysine--tRNA ligase; lysRS; lysyl-tRNA synthetase

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Kars1 (lysyl-tRNA synthetase 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Kars1 (lysyl-tRNA synthetase 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Kars1 (lysyl-tRNA synthetase 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	KARS1 (lysyl-tRNA synthetase 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	KARS1 (lysyl-tRNA synthetase 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Kars1 (lysyl-tRNA synthetase 1)	NCBI	Ortholog
Sus scrofa (pig):	KARS1 (lysyl-tRNA synthetase 1)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	KARS1 (lysyl-tRNA synthetase 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Kars1 (lysyl-tRNA synthetase 1)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Fam115e (family with sequence similarity 115, member E)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Kars1 (lysyl-tRNA synthetase 1)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Kars1 (lysyl-tRNA synthetase 1)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	kars (lysyl-tRNA synthetase)	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	KRS1	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	LysRS	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	kars-1	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	kars1.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	kars1	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	kars1.L	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

KARS1P1 KARS1P2 KARS1P3

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	75,627,724 - 75,647,665 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	75,627,474 - 75,648,643 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	75,661,622 - 75,681,563 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	74,219,131 - 74,239,078 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	74,219,130 - 74,239,078	NCBI
Celera	16	59,955,969 - 59,975,930 (-)	NCBI		Celera
Cytogenetic Map	16	q23.1	NCBI
HuRef	16	61,415,299 - 61,435,262 (-)	NCBI		HuRef
CHM1_1	16	77,074,018 - 77,093,985 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	16	81,676,020 - 81,695,962 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
KARS1	Human	sciatic neuropathy		ISO	RGD:1359653	12910554	mRNA,protein:decreased expression:dorsal root ganglion:	RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
KARS1	Human	autosomal recessive nonsyndromic deafness		IAGP	RGD:11060064	8554872	ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness	ClinVar	PMID:23596069\|PMID:25356970\|PMID:25741868\|PMID:28492532\|PMID:30252186\|PMID:30311386\|PMID:30369941\|PMID:31116475
KARS1	Human	autosomal recessive nonsyndromic deafness 89		IAGP	RGD:13797936	8554872	ClinVar Annotator: match by term: Deafness, autosomal recessive 89	ClinVar	PMID:30311386\|PMID:31116475
KARS1	Human	autosomal recessive nonsyndromic deafness 89		IAGP	RGD:596944314	8554872	ClinVar Annotator: match by term: Deafness, autosomal recessive 89	ClinVar	PMID:30311386
KARS1	Human	autosomal recessive nonsyndromic deafness 89		IAGP	RGD:11096448	8554872	ClinVar Annotator: match by term: Deafness, autosomal recessive 89	ClinVar	PMID:24033266\|PMID:25741868\|PMID:28492532
KARS1	Human	autosomal recessive nonsyndromic deafness 89		IAGP	RGD:11060064	8554872	ClinVar Annotator: match by term: Deafness, autosomal recessive 89	ClinVar	PMID:23596069\|PMID:25356970\|PMID:25741868\|PMID:28492532\|PMID:30252186\|PMID:30311386\|PMID:30369941\|PMID:31116475
KARS1	Human	autosomal recessive nonsyndromic deafness 89		IAGP	RGD:11612811\|RGD:152166853\|RGD:152999214\|RGD:401751393	8554872	ClinVar Annotator: match by term: Deafness, autosomal recessive 89	ClinVar	PMID:25741868
KARS1	Human	autosomal recessive nonsyndromic deafness 89		IAGP	RGD:15099291	8554872	ClinVar Annotator: match by term: Deafness, autosomal recessive 89	ClinVar	PMID:25741868\|PMID:28492532\|PMID:28496994\|PMID:33260297\|PMID:34172899
KARS1	Human	autosomal recessive nonsyndromic deafness 89		IAGP	RGD:126908922	8554872	ClinVar Annotator: match by term: Deafness, autosomal recessive 89	ClinVar	PMID:28492532\|PMID:30311386\|PMID:31192300\|PMID:34062854
KARS1	Human	autosomal recessive nonsyndromic deafness 89		IAGP	RGD:405801788\|RGD:405853815	8554872	ClinVar Annotator: match by term: Deafness, autosomal recessive 89	ClinVar
KARS1	Human	autosomal recessive nonsyndromic deafness 89		IAGP	RGD:21069581	8554872	ClinVar Annotator: match by term: Deafness, autosomal recessive 89	ClinVar	PMID:21427441\|PMID:28887846\|PMID:29615062\|PMID:31116475\|PMID:33260297
KARS1	Human	autosomal recessive nonsyndromic deafness 89		IAGP	RGD:152999221	8554872	ClinVar Annotator: match by term: Deafness, autosomal recessive 89	ClinVar	PMID:25741868\|PMID:28887846\|PMID:32730690
KARS1	Human	autosomal recessive nonsyndromic deafness 89		IAGP	RGD:8621346	8554872	ClinVar Annotator: match by term: Deafness, autosomal recessive 89	ClinVar	PMID:21181198\|PMID:23768514\|PMID:24824130
KARS1	Human	autosomal recessive nonsyndromic deafness 89		IAGP	RGD:8621345	8554872	ClinVar Annotator: match by term: Deafness, autosomal recessive 89	ClinVar	PMID:21181198\|PMID:23768514\|PMID:24824130\|PMID:25741868
KARS1	Human	Charcot-Marie-Tooth disease		IAGP	RGD:14700268	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	ClinVar	PMID:20920668\|PMID:28492532
KARS1	Human	Charcot-Marie-Tooth disease		IAGP	RGD:14700044	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	ClinVar	PMID:20920668
KARS1	Human	Charcot-Marie-Tooth disease recessive intermediate B		IAGP	RGD:13435819	8554872	ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE B	ClinVar	PMID:24033266\|PMID:28492532\|PMID:30311386
KARS1	Human	Charcot-Marie-Tooth disease recessive intermediate B		IAGP	RGD:11060064	8554872	ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE B	ClinVar	PMID:23596069\|PMID:25356970\|PMID:25741868\|PMID:28492532\|PMID:30252186\|PMID:30311386\|PMID:30369941\|PMID:31116475
KARS1	Human	Charcot-Marie-Tooth disease recessive intermediate B		IAGP	RGD:8560351\|RGD:8597799	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate B	ClinVar	PMID:20920668
KARS1	Human	Charcot-Marie-Tooth disease recessive intermediate B		IAGP	RGD:10449795\|RGD:13525885	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate B	ClinVar
KARS1	Human	Charcot-Marie-Tooth disease recessive intermediate B		IAGP	RGD:11088462\|RGD:14703670	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate B	ClinVar	PMID:24033266\|PMID:25741868\|PMID:28492532
KARS1	Human	Charcot-Marie-Tooth disease recessive intermediate B		IAGP	RGD:15102449\|RGD:152153929\|RGD:152985239	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate B	ClinVar	PMID:25741868\|PMID:28492532
KARS1	Human	Charcot-Marie-Tooth disease recessive intermediate B		IAGP	RGD:11060064	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate B	ClinVar	PMID:23596069\|PMID:25356970\|PMID:25741868\|PMID:28492532\|PMID:30252186\|PMID:30369941\|PMID:31116475
KARS1	Human	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY		IAGP	RGD:13797936	8554872	ClinVar Annotator: match by term: Deafness, congenital, and adult-onset progressive leukoencephalopathy	ClinVar	PMID:30311386\|PMID:31116475
KARS1	Human	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY		IAGP	RGD:11060064	8554872	ClinVar Annotator: match by term: Deafness, congenital, and adult-onset progressive leukoencephalopathy	ClinVar	PMID:23596069\|PMID:25356970\|PMID:25741868\|PMID:28492532\|PMID:30252186\|PMID:30311386\|PMID:30369941\|PMID:31116475
KARS1	Human	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY		IAGP	RGD:21069581	8554872	ClinVar Annotator: match by term: Deafness, congenital, and adult-onset progressive leukoencephalopathy	ClinVar	PMID:21427441\|PMID:28887846\|PMID:29615062\|PMID:31116475\|PMID:33260297
KARS1	Human	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY		IAGP	RGD:126729108	8554872	ClinVar Annotator: match by term: Deafness, congenital, and adult-onset progressive leukoencephalopathy	ClinVar	PMID:28887846
KARS1	Human	Developmental Disabilities		IAGP	RGD:152977950	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:25741868
KARS1	Human	Developmental Disabilities		IAGP	RGD:15099291	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:25741868\|PMID:28492532\|PMID:28496994\|PMID:33260297\|PMID:34172899
KARS1	Human	genetic disease		IAGP	RGD:11059996	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
KARS1	Human	genetic disease		IAGP	RGD:40887300	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:23596069\|PMID:25741868\|PMID:28492532\|PMID:31192300\|PMID:34172899
KARS1	Human	genetic disease		IAGP	RGD:11060064	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:23596069\|PMID:25356970\|PMID:25741868\|PMID:28492532\|PMID:30252186\|PMID:30311386\|PMID:30369941\|PMID:31116475
KARS1	Human	Hearing Loss		IAGP	RGD:12898871	8554872	ClinVar Annotator: match by term: Hearing impairment	ClinVar	PMID:24033266\|PMID:25741868\|PMID:28492532\|PMID:30311386
KARS1	Human	Hearing Loss		IAGP	RGD:11060064	8554872	ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	ClinVar	PMID:23596069\|PMID:25356970\|PMID:25741868\|PMID:28492532\|PMID:30252186\|PMID:30311386\|PMID:30369941\|PMID:31116475
KARS1	Human	Hearing Loss		IAGP	RGD:11094052	8554872	ClinVar Annotator: match by term: Hearing impairment	ClinVar	PMID:24033266\|PMID:25741868\|PMID:26467025\|PMID:28492532\|PMID:30311386
KARS1	Human	Hearing Loss		IAGP	RGD:13435819	8554872	ClinVar Annotator: match by term: Hearing impairment	ClinVar	PMID:24033266\|PMID:28492532\|PMID:30311386
KARS1	Human	Joubert syndrome 20		IAGP	RGD:151767989	8554872	ClinVar Annotator: match by term: Joubert syndrome 20	ClinVar	PMID:23012439\|PMID:23349226\|PMID:28492532
KARS1	Human	Joubert syndrome 20		IAGP	RGD:156450294	8554872	ClinVar Annotator: match by term: Joubert syndrome 20	ClinVar	PMID:28492532
KARS1	Human	leukodystrophy		IAGP	RGD:15099291	8554872	ClinVar Annotator: match by term: Leukodystrophy	ClinVar	PMID:25741868\|PMID:28492532\|PMID:28496994\|PMID:33260297\|PMID:34172899
KARS1	Human	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS		IAGP	RGD:40887300	8554872	ClinVar Annotator: match by term: Leukoencephalopathy, progressive, infantile-onset, with or without deafness	ClinVar	PMID:23596069\|PMID:25741868\|PMID:28492532\|PMID:31192300\|PMID:34172899
KARS1	Human	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS		IAGP	RGD:13798575	8554872	ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS	ClinVar	PMID:28492532\|PMID:30252186\|PMID:33942428
KARS1	Human	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS		IAGP	RGD:13706568	8554872	ClinVar Annotator: match by term: Leukoencephalopathy, progressive, infantile-onset, with or without deafness	ClinVar	PMID:25741868\|PMID:34172899\|PMID:34732400\|PMID:36344503\|PMID:38980148\|PMID:39062730
KARS1	Human	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS		IAGP	RGD:152977891\|RGD:156434511\|RGD:401751393\|RGD:401799275\|RGD:401799276\|RGD:401799277\|RGD:405855236\|RGD:408394269	8554872	ClinVar Annotator: match by term: Leukoencephalopathy, progressive, infantile-onset, with or without deafness	ClinVar	PMID:25741868
KARS1	Human	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS		IAGP	RGD:126729102\|RGD:126729104	8554872	ClinVar Annotator: match by term: Leukoencephalopathy, progressive, infantile-onset, with or without deafness	ClinVar
KARS1	Human	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS		IAGP	RGD:11060064	8554872	ClinVar Annotator: match by term: Leukoencephalopathy, progressive, infantile-onset, with or without deafness	ClinVar	PMID:23596069\|PMID:25356970\|PMID:25741868\|PMID:28492532\|PMID:30252186\|PMID:30311386\|PMID:30369941\|PMID:31116475
KARS1	Human	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS		IAGP	RGD:401940598	8554872	ClinVar Annotator: match by term: Leukoencephalopathy, progressive, infantile-onset, with or without deafness	ClinVar	PMID:23596069\|PMID:25330800\|PMID:25741868\|PMID:26741492\|PMID:30715177\|PMID:33942428\|PMID:34172899
KARS1	Human	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS		IAGP	RGD:8621345	8554872	ClinVar Annotator: match by term: Leukoencephalopathy, progressive, infantile-onset, with or without deafness	ClinVar	PMID:21181198\|PMID:23768514\|PMID:24824130\|PMID:25741868
KARS1	Human	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS		IAGP	RGD:329355652	8554872	ClinVar Annotator: match by term: Leukoencephalopathy, progressive, infantile-onset, with or without deafness	ClinVar	PMID:25741868\|PMID:32730690
KARS1	Human	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS		IAGP	RGD:21069581	8554872	ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS	ClinVar	PMID:21427441\|PMID:28887846\|PMID:29615062\|PMID:31116475\|PMID:33260297
KARS1	Human	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS		IAGP	RGD:152979478	8554872	ClinVar Annotator: match by term: Leukoencephalopathy, progressive, infantile-onset, with or without deafness	ClinVar	PMID:25741868\|PMID:27243033\|PMID:28492532\|PMID:32730690\|PMID:33942428
KARS1	Human	nonsyndromic deafness		IAGP	RGD:8621345	8554872	ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness	ClinVar	PMID:21181198\|PMID:23768514\|PMID:24824130\|PMID:25741868
KARS1	Human	optic nerve disease		IAGP	RGD:13797936	8554872	ClinVar Annotator: match by term: Optic neuropathy	ClinVar	PMID:30311386\|PMID:31116475
KARS1	Human	optic nerve disease		IAGP	RGD:11060064	8554872	ClinVar Annotator: match by term: Optic neuropathy	ClinVar	PMID:23596069\|PMID:25356970\|PMID:25741868\|PMID:28492532\|PMID:30252186\|PMID:30311386\|PMID:30369941\|PMID:31116475
KARS1	Human	sensorineural hearing loss		IAGP	RGD:13797936	8554872	ClinVar Annotator: match by term: Congenital sensorineural hearing impairment	ClinVar	PMID:30311386\|PMID:31116475
KARS1	Human	sensorineural hearing loss		IAGP	RGD:13798575	8554872	ClinVar Annotator: match by term: Sensorineural hearing loss disorder	ClinVar	PMID:28492532\|PMID:30252186\|PMID:33942428
KARS1	Human	sensorineural hearing loss		IAGP	RGD:11060064	8554872	ClinVar Annotator: match by term: Congenital sensorineural hearing impairment	ClinVar	PMID:23596069\|PMID:25356970\|PMID:25741868\|PMID:28492532\|PMID:30252186\|PMID:30311386\|PMID:30369941\|PMID:31116475
KARS1	Human	sensorineural hearing loss		IAGP	RGD:15099291	8554872	ClinVar Annotator: match by term: Sensorineural hearing loss disorder	ClinVar	PMID:25741868\|PMID:28492532\|PMID:28496994\|PMID:33260297\|PMID:34172899

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
KARS1	Human	autosomal recessive nonsyndromic deafness 89		IAGP		7240710		OMIM
KARS1	Human	Charcot-Marie-Tooth disease recessive intermediate B		IAGP		7240710		OMIM
KARS1	Human	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY		IAGP		7240710		OMIM
KARS1	Human	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS		IAGP		7240710		OMIM

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
KARS1	Human	1,2-dimethylhydrazine	increases expression	ISO	RGD:1550396	6480464	1,2-Dimethylhydrazine results in increased expression of KARS1 mRNA	CTD	PMID:22206623
KARS1	Human	17alpha-ethynylestradiol	increases expression	ISO	RGD:1550396	6480464	Ethinyl Estradiol results in increased expression of KARS1 mRNA	CTD	PMID:17555576\|PMID:17942748
KARS1	Human	17beta-estradiol	multiple interactions	EXP		6480464	Estradiol promotes the reaction [KARS1 protein binds to ESR1 protein]	CTD	PMID:27156127
KARS1	Human	2,2',4,4'-Tetrabromodiphenyl ether	affects expression	ISO	RGD:1550396	6480464	2,2',4,4'-tetrabromodiphenyl ether affects the expression of KARS1 mRNA	CTD	PMID:30294300
KARS1	Human	2,2',4,4'-Tetrabromodiphenyl ether	increases expression	ISO	RGD:1359653	6480464	2,2',4,4'-tetrabromodiphenyl ether results in increased expression of KARS1 mRNA	CTD	PMID:27291303
KARS1	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	RGD:1359653	6480464	Tetrachlorodibenzodioxin results in increased expression of KARS1 mRNA	CTD	PMID:33387578
KARS1	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	RGD:1550396	6480464	Tetrachlorodibenzodioxin results in increased expression of KARS1 mRNA	CTD	PMID:17942748
KARS1	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:1550396	6480464	Tetrachlorodibenzodioxin affects the expression of KARS1 mRNA	CTD	PMID:21570461
KARS1	Human	2,6-dimethoxyphenol	multiple interactions	EXP		6480464	[pyrogallol 1,3-dimethyl ether co-treated with Furaldehyde] results in increased expression of and affects the localization more ...	CTD	PMID:38598786
KARS1	Human	3-chloropropane-1,2-diol	increases expression	ISO	RGD:1359653	6480464	alpha-Chlorohydrin results in increased expression of KARS1 protein	CTD	PMID:34915118
KARS1	Human	4,4'-sulfonyldiphenol	increases expression	ISO	RGD:1550396	6480464	bisphenol S results in increased expression of KARS1 mRNA	CTD	PMID:31881267\|PMID:39298647
KARS1	Human	acrylamide	increases expression	ISO	RGD:1359653	6480464	Acrylamide results in increased expression of KARS1 mRNA	CTD	PMID:28959563
KARS1	Human	all-trans-retinoic acid	decreases expression	EXP		6480464	Tretinoin results in decreased expression of KARS1 mRNA	CTD	PMID:33167477
KARS1	Human	atrazine	increases expression	EXP		6480464	Atrazine results in increased expression of KARS1 mRNA	CTD	PMID:22378314
KARS1	Human	benzatropine	multiple interactions	EXP		6480464	[Cuprizone co-treated with Benztropine] results in decreased expression of KARS1 protein	CTD	PMID:34122009
KARS1	Human	bisphenol A	increases expression	ISO	RGD:1550396	6480464	bisphenol A results in increased expression of KARS1 mRNA	CTD	PMID:26063408
KARS1	Human	bisphenol A	decreases expression	EXP		6480464	bisphenol A results in decreased expression of KARS1 protein	CTD	PMID:37567409
KARS1	Human	bisphenol A	increases expression	ISO	RGD:1359653	6480464	bisphenol A results in increased expression of KARS1 mRNA	CTD	PMID:25181051
KARS1	Human	bisphenol A	increases methylation	ISO	RGD:1359653	6480464	bisphenol A results in increased methylation of KARS1 gene	CTD	PMID:28505145
KARS1	Human	caffeine	increases phosphorylation	EXP		6480464	Caffeine results in increased phosphorylation of KARS1 protein	CTD	PMID:35688186
KARS1	Human	captan	decreases expression	ISO	RGD:1550396	6480464	Captan results in decreased expression of KARS1 mRNA	CTD	PMID:31558096
KARS1	Human	carbon nanotube	increases expression	ISO	RGD:1550396	6480464	Nanotubes, Carbon analog results in increased expression of KARS1 mRNA	CTD	PMID:25554681
KARS1	Human	chlorpyrifos	decreases expression	ISO	RGD:1550396	6480464	Chlorpyrifos results in decreased expression of KARS1 mRNA	CTD	PMID:37019170
KARS1	Human	copper(II) sulfate	decreases expression	EXP		6480464	Copper Sulfate results in decreased expression of KARS1 mRNA	CTD	PMID:19549813
KARS1	Human	Cuprizon	multiple interactions	EXP		6480464	[Cuprizone co-treated with Benztropine] results in decreased expression of KARS1 protein	CTD	PMID:34122009
KARS1	Human	decabromodiphenyl ether	decreases expression	ISO	RGD:1359653	6480464	decabromobiphenyl ether results in decreased expression of KARS1 mRNA	CTD	PMID:23914054
KARS1	Human	doxorubicin	decreases expression	EXP		6480464	Doxorubicin results in decreased expression of KARS1 mRNA	CTD	PMID:29803840
KARS1	Human	ethanol	decreases expression	ISO	RGD:1359653	6480464	Ethanol results in decreased expression of KARS1 protein	CTD	PMID:19609968
KARS1	Human	flutamide	increases expression	ISO	RGD:1359653	6480464	Flutamide results in increased expression of KARS1 mRNA	CTD	PMID:24136188
KARS1	Human	folpet	decreases expression	ISO	RGD:1550396	6480464	folpet results in decreased expression of KARS1 mRNA	CTD	PMID:31558096
KARS1	Human	furfural	multiple interactions	EXP		6480464	[pyrogallol 1,3-dimethyl ether co-treated with Furaldehyde] results in increased expression of and affects the localization more ...	CTD	PMID:38598786
KARS1	Human	gentamycin	increases expression	ISO	RGD:1359653	6480464	Gentamicins results in increased expression of KARS1 protein	CTD	PMID:22061828
KARS1	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of KARS1 protein	CTD	PMID:32959892
KARS1	Human	kojic acid	decreases expression	EXP		6480464	kojic acid results in decreased expression of KARS1 mRNA	CTD	PMID:16595896
KARS1	Human	lead(0)	decreases expression	EXP		6480464	Lead results in decreased expression of KARS1 mRNA	CTD	PMID:19921347
KARS1	Human	methidathion	increases expression	ISO	RGD:1550396	6480464	methidathion results in increased expression of KARS1 mRNA	CTD	PMID:34813904
KARS1	Human	N-methyl-4-phenylpyridinium	decreases expression	EXP		6480464	1-Methyl-4-phenylpyridinium results in decreased expression of KARS1 protein	CTD	PMID:24806433
KARS1	Human	nitrates	multiple interactions	ISO	RGD:1550396	6480464	[Particulate Matter results in increased abundance of Nitrates] which results in increased expression of KARS1 more ...	CTD	PMID:35964746
KARS1	Human	paracetamol	decreases expression	EXP		6480464	Acetaminophen results in decreased expression of KARS1 mRNA	CTD	PMID:21420995\|PMID:25704631
KARS1	Human	paracetamol	increases expression	ISO	RGD:1359653	6480464	Acetaminophen results in increased expression of KARS1 mRNA	CTD	PMID:33387578
KARS1	Human	pentachlorophenol	increases expression	ISO	RGD:1550396	6480464	Pentachlorophenol results in increased expression of KARS1 mRNA	CTD	PMID:23892564
KARS1	Human	SB 431542	multiple interactions	EXP		6480464	[LDN 193189 co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide co-treated with FGF2 protein] results in decreased expression of KARS1 more ...	CTD	PMID:37664457
KARS1	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of KARS1 mRNA	CTD	PMID:38568856
KARS1	Human	sodium chloride	multiple interactions	EXP		6480464	[Sodium Chloride co-treated with Furaldehyde] results in increased expression of and affects the localization of more ...	CTD	PMID:38598786
KARS1	Human	tamoxifen	affects expression	ISO	RGD:1550396	6480464	Tamoxifen affects the expression of KARS1 mRNA	CTD	PMID:17555576
KARS1	Human	tetrachloromethane	increases expression	ISO	RGD:1550396	6480464	Carbon Tetrachloride results in increased expression of KARS1 mRNA	CTD	PMID:31919559
KARS1	Human	thifluzamide	decreases expression	EXP		6480464	thifluzamide results in decreased expression of KARS1 mRNA	CTD	PMID:33512557
KARS1	Human	trimellitic anhydride	increases expression	ISO	RGD:1550396	6480464	trimellitic anhydride results in increased expression of KARS1 mRNA	CTD	PMID:19042947
KARS1	Human	triptonide	increases expression	ISO	RGD:1550396	6480464	triptonide results in increased expression of KARS1 mRNA	CTD	PMID:33045310
KARS1	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of KARS1 mRNA	CTD	PMID:25979313

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
KARS1	Human	basophil activation involved in immune response	involved_in	IEA	UniProtKB:Q5XIM7\|ensembl:ENSRNOP00000044454	150520179		Ensembl	GO_REF:0000107
KARS1	Human	basophil activation involved in immune response	involved_in	IBA	PANTHER:PTN002873036\|RGD:1359653\|UniProtKB:Q15046	150520179		GO_Central	GO_REF:0000033
KARS1	Human	basophil activation involved in immune response	involved_in	IGI	UniProtKB:Q5XIM7	150520179	PMID:19524539	CAFA	PMID:19524539
KARS1	Human	diadenosine tetraphosphate biosynthetic process		ISO	RGD:1359653	9068941		RGD	PMID:3988754\|PMID:6626505\|REF_RGD_ID:2303395\|REF_RGD_ID:2303396
KARS1	Human	diadenosine tetraphosphate biosynthetic process	involved_in	IBA	PANTHER:PTN002873036\|RGD:1359653\|UniProtKB:Q15046	150520179		GO_Central	GO_REF:0000033
KARS1	Human	diadenosine tetraphosphate biosynthetic process	involved_in	IGI	UniProtKB:Q5XIM7	150520179	PMID:19524539	CAFA	PMID:19524539
KARS1	Human	diadenosine tetraphosphate biosynthetic process	involved_in	IDA		150520179	PMID:23159739	UniProt	PMID:23159739
KARS1	Human	diadenosine tetraphosphate biosynthetic process	involved_in	IEA	UniProtKB:Q5XIM7\|ensembl:ENSRNOP00000044454	150520179		Ensembl	GO_REF:0000107
KARS1	Human	ERK1 and ERK2 cascade	involved_in	IEA	UniProtKB:Q5XIM7\|ensembl:ENSRNOP00000044454	150520179		Ensembl	GO_REF:0000107
KARS1	Human	ERK1 and ERK2 cascade	involved_in	IGI	UniProtKB:Q5XIM7	150520179	PMID:19524539	CAFA	PMID:19524539
KARS1	Human	lysyl-tRNA aminoacylation		ISO	RGD:1359653	9068941		RGD	PMID:7082655\|PMID:7372681\|REF_RGD_ID:2303393\|REF_RGD_ID:2303394
KARS1	Human	lysyl-tRNA aminoacylation	involved_in	IBA	PANTHER:PTN000502669\|RGD:1359653\|SGD:S000002444\|SGD:S000005017\|UniProtKB:P0A8N3\|UniProtKB:P0A8N5\|UniProtKB:P9WFU7\|UniProtKB:Q15046	150520179		GO_Central	GO_REF:0000033
KARS1	Human	lysyl-tRNA aminoacylation	involved_in	IEA	InterPro:IPR002313\|InterPro:IPR018149\|InterPro:IPR034762	150520179		InterPro	GO_REF:0000002
KARS1	Human	lysyl-tRNA aminoacylation	involved_in	IDA		150520179	PMID:10952987, PMID:23159739, PMID:9278442	UniProt	PMID:10952987\|PMID:23159739\|PMID:9278442
KARS1	Human	lysyl-tRNA aminoacylation	involved_in	IEA	UniProtKB:Q5XIM7\|ensembl:ENSRNOP00000044454	150520179		Ensembl	GO_REF:0000107
KARS1	Human	positive regulation of DNA-templated transcription	involved_in	IEA	UniProtKB:Q5XIM7\|ensembl:ENSRNOP00000044454	150520179		Ensembl	GO_REF:0000107
KARS1	Human	positive regulation of DNA-templated transcription	involved_in	IGI	UniProtKB:Q5XIM7	150520179	PMID:19524539	CAFA	PMID:19524539
KARS1	Human	positive regulation of inflammatory response to antigenic stimulus	involved_in	IDA		150520179	PMID:15851690	CAFA	PMID:15851690
KARS1	Human	positive regulation of macrophage activation	involved_in	IDA		150520179	PMID:15851690	CAFA	PMID:15851690
KARS1	Human	positive regulation of macrophage activation	involved_in	IBA	PANTHER:PTN002873036\|UniProtKB:Q15046	150520179		GO_Central	GO_REF:0000033
KARS1	Human	response to X-ray		ISO	RGD:1359653	9068941		RGD	PMID:4001316\|REF_RGD_ID:12910553
KARS1	Human	response to X-ray	involved_in	IEA	UniProtKB:Q5XIM7\|ensembl:ENSRNOP00000044454	150520179		Ensembl	GO_REF:0000107
KARS1	Human	translation	involved_in	IEA	UniProtKB-KW:KW-0648	150520179		UniProt	GO_REF:0000043
KARS1	Human	tRNA aminoacylation for protein translation	involved_in	IEA	InterPro:IPR004364	150520179		InterPro	GO_REF:0000002
KARS1	Human	tRNA processing	involved_in	NAS		150520179	PMID:10952987	UniProt	PMID:10952987

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
KARS1	Human	aminoacyl-tRNA synthetase multienzyme complex		ISO	RGD:1359653	9068941		RGD	PMID:3988754\|PMID:7082655\|PMID:7372681\|REF_RGD_ID:2303393\|REF_RGD_ID:2303394\|REF_RGD_ID:2303396
KARS1	Human	aminoacyl-tRNA synthetase multienzyme complex	part_of	IEA	UniProtKB:Q5XIM7\|ensembl:ENSRNOP00000044454	150520179		Ensembl	GO_REF:0000107
KARS1	Human	aminoacyl-tRNA synthetase multienzyme complex	part_of	IDA		150520179	PMID:19131329	UniProt	PMID:19131329
KARS1	Human	aminoacyl-tRNA synthetase multienzyme complex	part_of	IBA	FB:FBgn0027084\|MGI:1934754\|PANTHER:PTN001097557\|RGD:1359653\|UniProtKB:Q15046	150520179		GO_Central	GO_REF:0000033
KARS1	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
KARS1	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
KARS1	Human	cytoplasm	located_in	IEA	UniProtKB:Q5XIM7\|ensembl:ENSRNOP00000044454	150520179		Ensembl	GO_REF:0000107
KARS1	Human	cytoplasm	located_in	IEA	InterPro:IPR018149	150520179		InterPro	GO_REF:0000002
KARS1	Human	cytoplasm	is_active_in	IBA	PANTHER:PTN000502669\|RGD:1359653\|SGD:S000002444\|SGD:S000005017\|TAIR:locus:2092850\|UniProtKB:P0A8N3\|UniProtKB:P0A8N5\|UniProtKB:P0A8N7\|UniProtKB:Q15046\|UniProtKB:Q580G3\|UniProtKB:Q8ILS8	150520179		GO_Central	GO_REF:0000033
KARS1	Human	cytosol	located_in	IDA		150520179	PMID:19289464, PMID:23159739	HPA	GO_REF:0000052\|PMID:19289464\|PMID:23159739
KARS1	Human	cytosol	located_in	IEA	UniProtKB-SubCell:SL-0091	150520179		UniProt	GO_REF:0000044
KARS1	Human	cytosol	located_in	TAS		150520179		Reactome	Reactome:R-HSA-379861\|Reactome:R-HSA-379865\|Reactome:R-HSA-379867\|Reactome:R-HSA-379893\|Reactome:R-HSA-379974\|Reactome:R-HSA-379982\|Reactome:R-HSA-379993\|Reactome:R-HSA-379994\|Reactome:R-HSA-380008\|Reactome:R-HSA-9825759\|Reactome:R-HSA-9825783
KARS1	Human	extracellular region	located_in	IEA	UniProtKB-SubCell:SL-0243	150520179		UniProt	GO_REF:0000044
KARS1	Human	extracellular region	located_in	IEA	UniProtKB-KW:KW-0964	150520179		UniProt	GO_REF:0000043
KARS1	Human	extracellular space	located_in	IDA		150520179	PMID:15851690	CAFA	PMID:15851690
KARS1	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
KARS1	Human	mitochondrial matrix	located_in	TAS		150520179		Reactome	Reactome:R-HSA-380233
KARS1	Human	mitochondrion	located_in	IEA	UniProtKB-SubCell:SL-0173	150520179		UniProt	GO_REF:0000044
KARS1	Human	mitochondrion	is_active_in	IBA	PANTHER:PTN001097557\|UniProtKB:Q15046	150520179		GO_Central	GO_REF:0000033
KARS1	Human	mitochondrion	located_in	HTP		150520179	PMID:34800366	FlyBase	PMID:34800366
KARS1	Human	mitochondrion	located_in	IEA	UniProtKB-KW:KW-0496	150520179		UniProt	GO_REF:0000043
KARS1	Human	mitochondrion	located_in	IDA		150520179	PMID:10952987	UniProt	PMID:10952987
KARS1	Human	nucleoplasm	located_in	TAS		150520179		Reactome	Reactome:R-HSA-9825782\|Reactome:R-HSA-9825783\|Reactome:R-HSA-9825788\|Reactome:R-HSA-9825790
KARS1	Human	nucleus	located_in	IDA		150520179	PMID:23159739	UniProt	PMID:23159739
KARS1	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
KARS1	Human	nucleus	located_in	IEA	UniProtKB:Q5XIM7\|ensembl:ENSRNOP00000044454	150520179		Ensembl	GO_REF:0000107
KARS1	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
KARS1	Human	plasma membrane	located_in	IEA	UniProtKB-KW:KW-1003	150520179		UniProt	GO_REF:0000043
KARS1	Human	plasma membrane	located_in	IEA	UniProtKB-SubCell:SL-0039	150520179		UniProt	GO_REF:0000044
KARS1	Human	plasma membrane	located_in	IDA		150520179		HPA	GO_REF:0000052

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
KARS1	Human	amino acid binding		ISO	RGD:1359653	9068941	lysine	RGD	PMID:3988754\|PMID:7082655\|PMID:7372681\|REF_RGD_ID:2303393\|REF_RGD_ID:2303394\|REF_RGD_ID:2303396
KARS1	Human	amino acid binding	enables	IEA	UniProtKB:Q5XIM7\|ensembl:ENSRNOP00000044454	150520179		Ensembl	GO_REF:0000107
KARS1	Human	aminoacyl-tRNA ligase activity	enables	IEA	InterPro:IPR004364	150520179		InterPro	GO_REF:0000002
KARS1	Human	aminoacyl-tRNA ligase activity	enables	IEA	UniProtKB-KW:KW-0030	150520179		UniProt	GO_REF:0000043
KARS1	Human	ATP binding		ISO	RGD:1359653	9068941		RGD	PMID:3988754\|PMID:7082655\|PMID:7372681\|REF_RGD_ID:2303393\|REF_RGD_ID:2303394\|REF_RGD_ID:2303396
KARS1	Human	ATP binding	enables	IEA	UniProtKB-KW:KW-0067	150520179		UniProt	GO_REF:0000043
KARS1	Human	ATP binding	enables	IEA	InterPro:IPR002313\|InterPro:IPR004364\|InterPro:IPR018149\|InterPro:IPR034762	150520179		InterPro	GO_REF:0000002
KARS1	Human	ATP binding	enables	IEA	UniProtKB:Q5XIM7\|ensembl:ENSRNOP00000044454	150520179		Ensembl	GO_REF:0000107
KARS1	Human	ATP:ADP adenylyltransferase activity	enables	IDA		150520179	PMID:23159739	UniProt	PMID:23159739
KARS1	Human	ATP:ADP adenylyltransferase activity	enables	IBA	PANTHER:PTN002873036\|UniProtKB:Q15046	150520179		GO_Central	GO_REF:0000033
KARS1	Human	identical protein binding	enables	IPI	UniProtKB:Q15046	150520179	PMID:18272479, PMID:21536907, PMID:24212136	IntAct	PMID:18272479\|PMID:21536907\|PMID:24212136
KARS1	Human	ligase activity	enables	IEA	UniProtKB-KW:KW-0436	150520179		UniProt	GO_REF:0000043
KARS1	Human	lysine-tRNA ligase activity		ISO	RGD:1359653	9068941		RGD	PMID:7082655\|PMID:7372681\|REF_RGD_ID:2303393\|REF_RGD_ID:2303394
KARS1	Human	lysine-tRNA ligase activity	enables	IBA	PANTHER:PTN000502669\|RGD:1359653\|SGD:S000002444\|SGD:S000005017\|TAIR:locus:2098348\|UniProtKB:P0A8N3\|UniProtKB:P0A8N5\|UniProtKB:Q15046	150520179		GO_Central	GO_REF:0000033
KARS1	Human	lysine-tRNA ligase activity	enables	IEA	RHEA:20792	150520179		RHEA	GO_REF:0000116
KARS1	Human	lysine-tRNA ligase activity	enables	IEA	InterPro:IPR002313\|InterPro:IPR018149\|InterPro:IPR034762	150520179		InterPro	GO_REF:0000002
KARS1	Human	lysine-tRNA ligase activity	enables	IEA	UniProtKB:Q5XIM7\|ensembl:ENSRNOP00000044454	150520179		Ensembl	GO_REF:0000107
KARS1	Human	lysine-tRNA ligase activity	enables	IDA		150520179	PMID:10952987, PMID:23159739, PMID:9278442	UniProt	PMID:10952987\|PMID:23159739\|PMID:9278442
KARS1	Human	lysine-tRNA ligase activity	enables	IEA	EC:6.1.1.6	150520179		UniProt	GO_REF:0000003
KARS1	Human	nucleic acid binding	enables	IEA	InterPro:IPR004365	150520179		InterPro	GO_REF:0000002
KARS1	Human	nucleotide binding	enables	IEA	UniProtKB-KW:KW-0547	150520179		UniProt	GO_REF:0000043
KARS1	Human	nucleotide binding	enables	IEA	InterPro:IPR004364\|InterPro:IPR018149\|InterPro:IPR044136	150520179		InterPro	GO_REF:0000002
KARS1	Human	protein binding	enables	IPI	UniProtKB:P07814\|UniProtKB:Q13155	150520179	PMID:33961781	IntAct	PMID:33961781
KARS1	Human	protein binding	enables	IPI	UniProtKB:P07814	150520179	PMID:21220307, PMID:22386318	IntAct	PMID:21220307\|PMID:22386318
KARS1	Human	protein binding	enables	IPI	UniProtKB:A2RTX5	150520179	PMID:24312579	UniProt	PMID:24312579
KARS1	Human	protein binding	enables	IPI	UniProtKB:P00441\|UniProtKB:Q13155	150520179	PMID:32814053	IntAct	PMID:32814053
KARS1	Human	protein binding	enables	IPI	UniProtKB:P08865	150520179	PMID:24983501	IntAct	PMID:24983501
KARS1	Human	protein binding	enables	IPI	UniProtKB:Q13155	150520179	PMID:16189514, PMID:21536907, PMID:21900206, PMID:21988832, PMID:25416956, PMID:29997244, PMID:31116475, PMID:32296183	IntAct	PMID:16189514\|PMID:21536907\|PMID:21900206\|PMID:21988832\|PMID:25416956\|PMID:29997244\|PMID:31116475\|PMID:32296183
KARS1	Human	protein binding	enables	IPI	UniProtKB:P08865\|UniProtKB:Q13155	150520179	PMID:24212136	IntAct	PMID:24212136
KARS1	Human	protein binding	enables	IPI	UniProtKB:Q13155\|UniProtKB:Q15046	150520179	PMID:23159739	UniProt	PMID:23159739
KARS1	Human	protein homodimerization activity	enables	IPI	UniProtKB:Q15046	150520179	PMID:23159739	UniProt	PMID:23159739
KARS1	Human	scaffold protein binding	enables	ISO	UniProtKB:Q8R010	9068941	PMID:12060739	CAFA	PMID:12060739
KARS1	Human	transferase activity	enables	IEA	UniProtKB-KW:KW-0808	150520179		UniProt	GO_REF:0000043
KARS1	Human	tRNA binding		ISO	RGD:1359653	9068941		RGD	PMID:7082655\|PMID:7372681\|REF_RGD_ID:2303393\|REF_RGD_ID:2303394
KARS1	Human	tRNA binding	enables	IBA	PANTHER:PTN000502669\|RGD:1359653	150520179		GO_Central	GO_REF:0000033
KARS1	Human	tRNA binding	enables	IEA	UniProtKB:Q5XIM7\|ensembl:ENSRNOP00000044454	150520179		Ensembl	GO_REF:0000107
KARS1	Human	tRNA binding	enables	NAS		150520179	PMID:10952987	UniProt	PMID:10952987

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
KARS1	Human	Abnormal pyramidal sign		IAGP		8699517		HPO	MIM:619196\|PMID:30737337\|PMID:31116475
KARS1	Human	Absent brainstem auditory responses		IAGP		8699517		HPO	ORPHA:3240
KARS1	Human	Absent speech		IAGP		8699517		HPO	MIM:619147\|PMID:30715177\|ORPHA:3240
KARS1	Human	Akinesia		IAGP		8699517		HPO	MIM:619147\|PMID:21427441
KARS1	Human	Anemia		IAGP		8699517		HPO	MIM:619147\|PMID:30715177
KARS1	Human	Areflexia		IAGP		8699517		HPO	MIM:613641
KARS1	Human	Ataxia		IAGP		8699517		HPO	MIM:619196\|PMID:31116475
KARS1	Human	Atopic dermatitis		IAGP		8699517		HPO	ORPHA:3240
KARS1	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:613641\|PMID:20920668\|MIM:613916\|PMID:23768514\|MIM:619196\|PMID:28887846\|MIM:619147\|PMID:21427441
KARS1	Human	Axial hypotonia		IAGP		8699517		HPO	ORPHA:3240
KARS1	Human	Cerebellar hypoplasia		IAGP		8699517		HPO	ORPHA:3240
KARS1	Human	Cerebral calcification		IAGP		8699517		HPO	MIM:619147\|PMID:21427441\|PMID:30715177
KARS1	Human	Cognitive impairment		IAGP		8699517		HPO	MIM:619196\|PMID:28887846
KARS1	Human	Congenital onset		IAGP		8699517		HPO	MIM:619147\|PMID:30715177
KARS1	Human	Congenital sensorineural hearing impairment		IAGP		8699517		HPO	MIM:619147\|PMID:30715177
KARS1	Human	Death in childhood		IAGP		8699517		HPO	MIM:619147\|PMID:30715177
KARS1	Human	Decreased activity of mitochondrial respiratory chain		IAGP		8699517		HPO	MIM:619147\|PMID:25330800
KARS1	Human	Decreased compound muscle action potential amplitude		IAGP		8699517		HPO	MIM:613641\|PMID:20920668
KARS1	Human	Decreased CSF biopterin level		IAGP		8699517		HPO	MIM:619147\|PMID:21427441
KARS1	Human	Delayed ability to walk		IAGP		8699517		HPO	MIM:619147\|PMID:30715177
KARS1	Human	Delayed skeletal maturation		IAGP		8699517		HPO	MIM:619147\|PMID:21427441
KARS1	Human	Developmental regression		IAGP		8699517		HPO	MIM:619147\|PMID:30715177\|ORPHA:3240
KARS1	Human	Diarrhea		IAGP		8699517		HPO	ORPHA:3240
KARS1	Human	Diffuse cerebral atrophy		IAGP		8699517		HPO	ORPHA:3240
KARS1	Human	Distal sensory impairment		IAGP		8699517		HPO	MIM:613641
KARS1	Human	Dystonia		IAGP		8699517		HPO	MIM:619196\|PMID:31116475\|ORPHA:3240
KARS1	Human	Elevated brain lactate level by MRS		IAGP		8699517		HPO	MIM:619196\|PMID:30737337
KARS1	Human	Failure to thrive		IAGP		8699517		HPO	MIM:619147\|PMID:25330800
KARS1	Human	Foot dorsiflexor weakness		IAGP		8699517		HPO	MIM:613641
KARS1	Human	Generalized tonic seizure		IAGP		8699517		HPO	MIM:619147\|PMID:21427441
KARS1	Human	Gliosis		IAGP		8699517		HPO	ORPHA:3240
KARS1	Human	Global developmental delay		IAGP		8699517		HPO	MIM:613641\|PMID:20920668\|MIM:619147\|PMID:21427441\|PMID:25330800
KARS1	Human	Growth delay		IAGP		8699517		HPO	MIM:619147\|PMID:25330800\|ORPHA:3240
KARS1	Human	Head titubation		IAGP		8699517		HPO	ORPHA:3240
KARS1	Human	Hearing impairment		IAGP		8699517		HPO	MIM:619196\|PMID:31116475
KARS1	Human	Hyperalaninemia		IAGP		8699517		HPO	MIM:619147\|PMID:21427441
KARS1	Human	Hyperreflexia		IAGP		8699517		HPO	ORPHA:3240
KARS1	Human	Hypertonia		IAGP		8699517		HPO	MIM:619147\|PMID:30715177
KARS1	Human	Hypochromic microcytic anemia		IAGP		8699517		HPO	MIM:619147\|PMID:21427441\|ORPHA:3240
KARS1	Human	Hypointensity of cerebral white matter on MRI		IAGP		8699517		HPO	MIM:619196\|PMID:28887846
KARS1	Human	Hyporeflexia		IAGP		8699517		HPO	MIM:613641
KARS1	Human	Hypothyroidism		IAGP		8699517		HPO	MIM:619147\|PMID:25330800
KARS1	Human	Hypotonia		IAGP		8699517		HPO	MIM:619147\|PMID:25330800\|PMID:30715177
KARS1	Human	Increased circulating ferritin concentration		IAGP		8699517		HPO	ORPHA:3240
KARS1	Human	Increased circulating lactate concentration		IAGP		8699517		HPO	MIM:619147\|PMID:25330800\|PMID:30715177\|MIM:619196\|PMID:31116475
KARS1	Human	Infantile onset		IAGP		8699517		HPO	MIM:613916\|PMID:23768514
KARS1	Human	Ketosis		IAGP		8699517		HPO	MIM:619147\|PMID:21427441
KARS1	Human	Leukodystrophy		IAGP		8699517		HPO	MIM:619196\|PMID:30737337
KARS1	Human	Leukoencephalopathy		IAGP		8699517		HPO	MIM:619147\|PMID:21427441
KARS1	Human	Long philtrum		IAGP		8699517		HPO	MIM:619147\|PMID:25330800
KARS1	Human	Mental deterioration		IAGP		8699517		HPO	MIM:619196\|PMID:31116475
KARS1	Human	Microcephaly		IAGP		8699517		HPO	MIM:619147\|PMID:21427441
KARS1	Human	Mild proteinuria		IAGP		8699517		HPO	MIM:619147\|PMID:21427441
KARS1	Human	Motor delay		IAGP		8699517		HPO	MIM:619196\|PMID:31116475
KARS1	Human	Narrow mouth		IAGP		8699517		HPO	MIM:619147\|PMID:25330800
KARS1	Human	Nystagmus		IAGP		8699517		HPO	MIM:619147\|PMID:30715177
KARS1	Human	Osteopetrosis		IAGP		8699517		HPO	ORPHA:3240
KARS1	Human	Peripheral axonal neuropathy		IAGP		8699517		HPO	MIM:619196\|PMID:31116475
KARS1	Human	Pes cavus		IAGP		8699517		HPO	MIM:613641
KARS1	Human	Profound sensorineural hearing impairment		IAGP		8699517		HPO	MIM:619196\|PMID:28887846
KARS1	Human	Progressive neurologic deterioration		IAGP		8699517		HPO	MIM:619196\|PMID:30737337
KARS1	Human	Progressive visual loss		IAGP		8699517		HPO	MIM:619196\|PMID:31116475
KARS1	Human	Renal insufficiency		IAGP		8699517		HPO	MIM:619147\|PMID:30715177
KARS1	Human	Respiratory failure		IAGP		8699517		HPO	ORPHA:3240
KARS1	Human	Seizure		IAGP		8699517		HPO	MIM:619147\|PMID:30715177\|ORPHA:3240
KARS1	Human	Self-injurious behavior		IAGP		8699517		HPO	MIM:613641\|PMID:20920668
KARS1	Human	Sensorineural hearing impairment		IAGP		8699517		HPO	MIM:613916\|PMID:23768514\|MIM:619196\|PMID:30737337\|MIM:619147\|PMID:21427441\|PMID:25330800
KARS1	Human	Severe global developmental delay		IAGP		8699517		HPO	MIM:619147\|PMID:30715177
KARS1	Human	Small for gestational age		IAGP		8699517		HPO	MIM:619147\|PMID:25330800
KARS1	Human	Spastic tetraplegia		IAGP		8699517		HPO	MIM:619147\|PMID:21427441\|ORPHA:3240
KARS1	Human	Steppage gait		IAGP		8699517		HPO	MIM:613641
KARS1	Human	Subcortical white matter calcifications		IAGP		8699517		HPO	ORPHA:3240
KARS1	Human	Thrombocytopenia		IAGP		8699517		HPO	ORPHA:3240
KARS1	Human	Vestibular areflexia		IAGP		8699517		HPO	ORPHA:3240
KARS1	Human	Vestibular hyporeflexia		IAGP		8699517		HPO	MIM:613916\|PMID:23768514
KARS1	Human	Vestibular schwannoma		IAGP		8699517		HPO	MIM:613641\|PMID:20920668
KARS1	Human	Vomiting		IAGP		8699517		HPO	MIM:619147\|PMID:25330800\|ORPHA:3240

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
KARS1	Human	Abnormal cerebral white matter morphology		IAGP	RGD:13797936	8554872	ClinVar Annotator: match by term: Leukoaraiosis	ClinVar	PMID:30311386\|PMID:31116475
KARS1	Human	Abnormal cerebral white matter morphology		IAGP	RGD:11060064	8554872	ClinVar Annotator: match by term: Abnormality of the cerebral white matter	ClinVar	PMID:23596069\|PMID:25356970\|PMID:25741868\|PMID:28492532\|PMID:30252186\|PMID:30311386\|PMID:30369941\|PMID:31116475
KARS1	Human	Abnormal pyramidal sign		IAGP	RGD:13797936	8554872	ClinVar Annotator: match by term: Pyramidal signs	ClinVar	PMID:30311386\|PMID:31116475
KARS1	Human	Abnormal pyramidal sign		IAGP	RGD:11060064	8554872	ClinVar Annotator: match by term: Abnormal pyramidal sign	ClinVar	PMID:23596069\|PMID:25356970\|PMID:25741868\|PMID:28492532\|PMID:30252186\|PMID:30311386\|PMID:30369941\|PMID:31116475
KARS1	Human	Congenital sensorineural hearing impairment		IAGP	RGD:13797936	8554872	ClinVar Annotator: match by term: Congenital sensorineural hearing loss	ClinVar	PMID:30311386\|PMID:31116475
KARS1	Human	Congenital sensorineural hearing impairment		IAGP	RGD:11060064	8554872	ClinVar Annotator: match by term: Congenital sensorineural hearing impairment	ClinVar	PMID:23596069\|PMID:25356970\|PMID:25741868\|PMID:28492532\|PMID:30252186\|PMID:30311386\|PMID:30369941\|PMID:31116475
KARS1	Human	Global developmental delay		IAGP	RGD:152977950	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:25741868
KARS1	Human	Global developmental delay		IAGP	RGD:15099291	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:25741868\|PMID:28492532\|PMID:28496994\|PMID:33260297\|PMID:34172899
KARS1	Human	Global developmental delay		IAGP	RGD:13798575	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:28492532\|PMID:30252186\|PMID:33942428
KARS1	Human	Hearing impairment		IAGP	RGD:12898871	8554872	ClinVar Annotator: match by term: Hearing impairment	ClinVar	PMID:24033266\|PMID:25741868\|PMID:28492532\|PMID:30311386
KARS1	Human	Hearing impairment		IAGP	RGD:13435819	8554872	ClinVar Annotator: match by term: Hearing impairment	ClinVar	PMID:24033266\|PMID:28492532\|PMID:30311386
KARS1	Human	Hearing impairment		IAGP	RGD:11094052	8554872	ClinVar Annotator: match by term: Hearing impairment	ClinVar	PMID:24033266\|PMID:25741868\|PMID:26467025\|PMID:28492532\|PMID:30311386
KARS1	Human	Hypotonia		IAGP	RGD:13798575	8554872	ClinVar Annotator: match by term: Hypotonia	ClinVar	PMID:28492532\|PMID:30252186\|PMID:33942428
KARS1	Human	Lactic acidosis		IAGP	RGD:13798575	8554872	ClinVar Annotator: match by term: Lactic acidosis	ClinVar	PMID:28492532\|PMID:30252186\|PMID:33942428
KARS1	Human	Leukodystrophy		IAGP	RGD:15099291	8554872	ClinVar Annotator: match by term: Leukodystrophy	ClinVar	PMID:25741868\|PMID:28492532\|PMID:28496994\|PMID:33260297\|PMID:34172899
KARS1	Human	Optic neuropathy		IAGP	RGD:13797936	8554872	ClinVar Annotator: match by term: Optic neuropathy	ClinVar	PMID:30311386\|PMID:31116475
KARS1	Human	Optic neuropathy		IAGP	RGD:11060064	8554872	ClinVar Annotator: match by term: Optic neuropathy	ClinVar	PMID:23596069\|PMID:25356970\|PMID:25741868\|PMID:28492532\|PMID:30252186\|PMID:30311386\|PMID:30369941\|PMID:31116475
KARS1	Human	Progressive cerebellar ataxia		IAGP	RGD:13797936	8554872	ClinVar Annotator: match by term: Progressive ataxia	ClinVar	PMID:30311386\|PMID:31116475
KARS1	Human	Progressive cerebellar ataxia		IAGP	RGD:11060064	8554872	ClinVar Annotator: match by term: Progressive cerebellar ataxia	ClinVar	PMID:23596069\|PMID:25356970\|PMID:25741868\|PMID:28492532\|PMID:30252186\|PMID:30311386\|PMID:30369941\|PMID:31116475
KARS1	Human	Sensorineural hearing impairment		IAGP	RGD:15099291	8554872	ClinVar Annotator: match by term: Sensorineural hearing loss	ClinVar	PMID:25741868\|PMID:28492532\|PMID:28496994\|PMID:33260297\|PMID:34172899
KARS1	Human	Sensorineural hearing impairment		IAGP	RGD:13798575	8554872	ClinVar Annotator: match by term: Sensorineural hearing loss	ClinVar	PMID:28492532\|PMID:30252186\|PMID:33942428

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
3.	Expression profile of aminoacyl-tRNA synthetases in dorsal root ganglion neurons after peripheral nerve injury.	Park BS, etal., J Mol Histol. 2015 Feb;46(1):115-22. doi: 10.1007/s10735-014-9601-4. Epub 2014 Dec 3.
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
6.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

PMID:1651330	PMID:7584044	PMID:8052601	PMID:8078941	PMID:8188258	PMID:8449960	PMID:8812440	PMID:9278442	PMID:9525626	PMID:9878398	PMID:10952987	PMID:11333884
PMID:11714285	PMID:11829477	PMID:12477932	PMID:12729910	PMID:12756246	PMID:12819782	PMID:12869526	PMID:15078180	PMID:15142377	PMID:15183344	PMID:15220430	PMID:15479637
PMID:15489334	PMID:15851690	PMID:15888436	PMID:16055448	PMID:16120388	PMID:16169070	PMID:16189514	PMID:16341674	PMID:16702215	PMID:17560997	PMID:17607528	PMID:17724017
PMID:18029348	PMID:18272479	PMID:18708237	PMID:18715867	PMID:18842718	PMID:18854154	PMID:19131329	PMID:19289464	PMID:19458171	PMID:19490893	PMID:19524539	PMID:19584093
PMID:19738201	PMID:19825046	PMID:19844255	PMID:19914238	PMID:20056178	PMID:20186120	PMID:20348541	PMID:20699648	PMID:20877624	PMID:20920668	PMID:21058683	PMID:21093454
PMID:21145461	PMID:21181198	PMID:21220307	PMID:21318276	PMID:21536907	PMID:21763493	PMID:21873635	PMID:21900206	PMID:21988832	PMID:21994608	PMID:22079093	PMID:22190034
PMID:22235746	PMID:22268729	PMID:22276994	PMID:22386318	PMID:22539966	PMID:22586326	PMID:22698876	PMID:22751010	PMID:22863883	PMID:22939629	PMID:23095741	PMID:23159739
PMID:23208549	PMID:23414517	PMID:23768514	PMID:23799079	PMID:23972532	PMID:24130170	PMID:24147044	PMID:24212136	PMID:24312579	PMID:24981860	PMID:24983501	PMID:25010285
PMID:25086665	PMID:25281560	PMID:25416956	PMID:25437307	PMID:25659154	PMID:25918939	PMID:25921289	PMID:25963833	PMID:26091349	PMID:26264872	PMID:26344197	PMID:26472760
PMID:26496610	PMID:26499835	PMID:26643967	PMID:26752685	PMID:26816005	PMID:26831064	PMID:26891990	PMID:27025967	PMID:27173435	PMID:27342126	PMID:27377895	PMID:27462432
PMID:27591049	PMID:27609421	PMID:27880917	PMID:27891585	PMID:28431233	PMID:28443643	PMID:28514442	PMID:28515276	PMID:28611052	PMID:28611094	PMID:28685749	PMID:28887846
PMID:29128334	PMID:29229926	PMID:29298432	PMID:29357390	PMID:29395067	PMID:29467282	PMID:29507755	PMID:29509190	PMID:29509794	PMID:29511261	PMID:29568061	PMID:29676528
PMID:29778605	PMID:29845934	PMID:29859926	PMID:29955894	PMID:29997244	PMID:30006346	PMID:30033366	PMID:30188867	PMID:30224337	PMID:30282926	PMID:30455355	PMID:30463901
PMID:30715177	PMID:30737337	PMID:30804502	PMID:30809309	PMID:30833792	PMID:30884312	PMID:30948266	PMID:31048545	PMID:31059266	PMID:31073040	PMID:31091453	PMID:31116475
PMID:31300519	PMID:31409639	PMID:31478661	PMID:31536960	PMID:31586073	PMID:31665637	PMID:31792442	PMID:31980649	PMID:32041737	PMID:32129710	PMID:32235678	PMID:32296183
PMID:32382008	PMID:32416067	PMID:32460013	PMID:32611767	PMID:32687490	PMID:32786267	PMID:32807901	PMID:32814053	PMID:32941674	PMID:32971831	PMID:32994395	PMID:33022573
PMID:33111431	PMID:33239621	PMID:33658012	PMID:33784510	PMID:33916271	PMID:33942428	PMID:33961781	PMID:34079125	PMID:34172899	PMID:34189442	PMID:34349018	PMID:34373451
PMID:34709727	PMID:34728620	PMID:34732716	PMID:34800366	PMID:35008187	PMID:35013218	PMID:35032548	PMID:35235311	PMID:35253629	PMID:35256949	PMID:35271311	PMID:35384245
PMID:35439318	PMID:35446349	PMID:35509820	PMID:35562734	PMID:35563538	PMID:35652658	PMID:35676659	PMID:35687106	PMID:35777956	PMID:35819319	PMID:35831314	PMID:35896951
PMID:35906200	PMID:35912727	PMID:35915203	PMID:35944360	PMID:36057605	PMID:36114006	PMID:36215168	PMID:36244648	PMID:36424410	PMID:36526897	PMID:36574265	PMID:36811957
PMID:37167062	PMID:37314180	PMID:37314216	PMID:37317656	PMID:37536630	PMID:37770806	PMID:37827155	PMID:37933844	PMID:38113892	PMID:38177924	PMID:38697112	PMID:38878758
PMID:39147351

KARS1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	75,627,724 - 75,647,665 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	75,627,474 - 75,648,643 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	75,661,622 - 75,681,563 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	74,219,131 - 74,239,078 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	74,219,130 - 74,239,078	NCBI
Celera	16	59,955,969 - 59,975,930 (-)	NCBI		Celera
Cytogenetic Map	16	q23.1	NCBI
HuRef	16	61,415,299 - 61,435,262 (-)	NCBI		HuRef
CHM1_1	16	77,074,018 - 77,093,985 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	16	81,676,020 - 81,695,962 (-)	NCBI		T2T-CHM13v2.0

Kars1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	112,720,071 - 112,737,986 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	8	112,720,075 - 112,737,955 (-)	Ensembl		GRCm39 Ensembl
GRCm38	8	111,993,439 - 112,011,354 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	111,993,443 - 112,011,323 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	114,517,340 - 114,535,205 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	8	114,880,116 - 114,897,941 (-)	NCBI		MGSCv36	mm8
Celera	8	116,222,771 - 116,240,662 (-)	NCBI		Celera
Cytogenetic Map	8	E1	NCBI
cM Map	8	58.27	NCBI

Kars1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	19	56,867,096 - 56,886,151 (-)	NCBI		GRCr8
mRatBN7.2	19	39,957,846 - 39,976,837 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	19	39,957,846 - 39,977,632 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	19	46,821,408 - 46,840,370 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	19	47,474,740 - 47,493,706 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	19	49,723,690 - 49,742,981 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	19	44,212,205 - 44,231,209 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	19	44,212,206 - 44,231,157 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	19	55,018,815 - 55,037,820 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	19	41,927,508 - 41,946,461 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	19	41,932,389 - 41,951,342 (-)	NCBI
Celera	19	39,318,292 - 39,337,236 (-)	NCBI		Celera
Cytogenetic Map	19	q12	NCBI

Kars1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955484	1,924,523 - 1,940,552 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955484	1,924,523 - 1,939,777 (+)	NCBI	ChiLan1.0	ChiLan1.0

KARS1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	18	85,345,486 - 85,365,514 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	16	91,268,093 - 91,288,098 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	16	56,196,867 - 56,216,909 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	16	75,544,996 - 75,565,947 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	16	75,545,002 - 75,565,043 (-)	Ensembl	panpan1.1		panPan2

KARS1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	75,172,976 - 75,188,197 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	75,173,032 - 75,188,197 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	75,150,330 - 75,165,555 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	75,486,891 - 75,502,304 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	75,486,958 - 75,502,304 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	75,423,065 - 75,438,308 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	75,258,329 - 75,273,495 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	75,749,065 - 75,764,469 (+)	NCBI		UU_Cfam_GSD_1.0

Kars1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024409349	35,277,014 - 35,294,415 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936475	24,292,876 - 24,312,076 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936475	24,294,699 - 24,312,051 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

KARS1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	12,056,571 - 12,073,748 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	12,057,475 - 12,073,749 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	11,898,371 - 11,914,646 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

KARS1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	5	61,113,215 - 61,133,093 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	5	61,113,213 - 61,132,995 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666047	14,926,869 - 14,946,419 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Kars1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624746	11,337,529 - 11,353,797 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624746	11,337,505 - 11,354,950 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in KARS1
435 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_005548.3(KARS1):c.1493C>T (p.Ala498Val)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 89 [RCV000986181]\|Leukodystrophy [RCV000856838]\|Sensorineural hearing loss disorder [RCV001269077]\|not provided [RCV003558621]	Chr16:75629473 [GRCh38] Chr16:75663371 [GRCh37] Chr16:16q23.1	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005548.3(KARS1):c.430_431dup (p.Tyr145fs)	duplication	Charcot-Marie-Tooth disease recessive intermediate B [RCV000008648]	Chr16:75636504..75636505 [GRCh38] Chr16:75670402..75670403 [GRCh37] Chr16:16q23.1	pathogenic
NM_005548.3(KARS1):c.314T>A (p.Leu105His)	single nucleotide variant	Charcot-Marie-Tooth disease recessive intermediate B [RCV000008647]	Chr16:75640258 [GRCh38] Chr16:75674156 [GRCh37] Chr16:16q23.1	pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	copy number gain	See cases [RCV000052422]	Chr16:70514631..90081985 [GRCh38] Chr16:70548534..90148393 [GRCh37] Chr16:69106035..88675894 [NCBI36] Chr16:16q22.1-24.3	pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	copy number gain	See cases [RCV000052421]	Chr16:65313395..90081985 [GRCh38] Chr16:65347298..90148393 [GRCh37] Chr16:63904799..88675894 [NCBI36] Chr16:16q21-24.3	pathogenic
GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	copy number loss	See cases [RCV000053356]	Chr16:69918076..76723348 [GRCh38] Chr16:69951979..76757245 [GRCh37] Chr16:68509480..75314746 [NCBI36] Chr16:16q22.1-23.1	pathogenic
GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	copy number loss	See cases [RCV000053357]	Chr16:73049467..82576326 [GRCh38] Chr16:73083366..82609931 [GRCh37] Chr16:71640867..81167432 [NCBI36] Chr16:16q22.3-23.3	pathogenic
GRCh38/hg38 16q23.1(chr16:75163906-78064640)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053358]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053358]\|See cases [RCV000053358]	Chr16:75163906..78064640 [GRCh38] Chr16:75197804..78098537 [GRCh37] Chr16:73755305..76656038 [NCBI36] Chr16:16q23.1	pathogenic
NM_005548.3(KARS1):c.433T>C (p.Tyr145His)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 89 [RCV000054525]\|Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV001807772]\|Nonsyndromic genetic hearing loss [RCV000627042]	Chr16:75636503 [GRCh38] Chr16:75670401 [GRCh37] Chr16:16q23.1	pathogenic\|uncertain significance
NM_005548.3(KARS1):c.1045G>A (p.Asp349Asn)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 89 [RCV000054526]\|not provided [RCV001775565]	Chr16:75631726 [GRCh38] Chr16:75665624 [GRCh37] Chr16:16q23.1	pathogenic\|uncertain significance
GRCh38/hg38 16q23.1(chr16:75581049-76337261)x3	copy number gain	See cases [RCV000053895]	Chr16:75581049..76337261 [GRCh38] Chr16:75614947..76371158 [GRCh37] Chr16:74172448..74928659 [NCBI36] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.805C>G (p.Pro269Ala)	single nucleotide variant	Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV003126398]	Chr16:75634283 [GRCh38] Chr16:75668181 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1573G>A (p.Glu525Lys)	single nucleotide variant	Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV001293657]	Chr16:75628691 [GRCh38] Chr16:75662589 [GRCh37] Chr16:16q23.1	pathogenic
GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	copy number loss	See cases [RCV000133814]	Chr16:70414573..84908120 [GRCh38] Chr16:70448476..84941726 [GRCh37] Chr16:69005977..83499227 [NCBI36] Chr16:16q22.1-24.1	pathogenic
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	copy number gain	See cases [RCV000135863]	Chr16:62925929..84585795 [GRCh38] Chr16:62959833..84619401 [GRCh37] Chr16:61517334..83176902 [NCBI36] Chr16:16q21-24.1	pathogenic
GRCh38/hg38 16q23.1(chr16:75541502-79154140)x1	copy number loss	See cases [RCV000135449]	Chr16:75541502..79154140 [GRCh38] Chr16:75575400..79188037 [GRCh37] Chr16:74132901..77745538 [NCBI36] Chr16:16q23.1	pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	copy number gain	See cases [RCV000137495]	Chr16:70749398..90096995 [GRCh38] Chr16:70783301..90163403 [GRCh37] Chr16:69340802..88690904 [NCBI36] Chr16:16q22.1-24.3	pathogenic
NM_005548.3(KARS1):c.223-6del	deletion	Charcot-Marie-Tooth disease recessive intermediate B [RCV000625092]\|not provided [RCV001573008]\|not specified [RCV000202918]	Chr16:75640355 [GRCh38] Chr16:75674253 [GRCh37] Chr16:16q23.1	benign\|likely benign
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	copy number gain	See cases [RCV000139426]	Chr16:65511483..90096995 [GRCh38] Chr16:65545386..90163403 [GRCh37] Chr16:64102887..88690904 [NCBI36] Chr16:16q21-24.3	pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	copy number gain	See cases [RCV000139302]	Chr16:75377981..90081992 [GRCh38] Chr16:75411879..90148400 [GRCh37] Chr16:73969380..88675901 [NCBI36] Chr16:16q23.1-24.3	pathogenic
GRCh38/hg38 16q23.1(chr16:74811982-75698467)x3	copy number gain	See cases [RCV000139130]	Chr16:74811982..75698467 [GRCh38] Chr16:74845880..75732365 [GRCh37] Chr16:73403381..74289866 [NCBI36] Chr16:16q23.1	uncertain significance
GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	copy number gain	See cases [RCV000142038]	Chr16:69053457..83274681 [GRCh38] Chr16:69087360..83308286 [GRCh37] Chr16:67644861..81865787 [NCBI36] Chr16:16q22.1-23.3	pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	copy number gain	See cases [RCV000142578]	Chr16:64389378..90081985 [GRCh38] Chr16:64423281..90148393 [GRCh37] Chr16:62980782..88675894 [NCBI36] Chr16:16q21-24.3	pathogenic\|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	copy number gain	See cases [RCV000143425]	Chr16:52899183..90088654 [GRCh38] Chr16:52933095..90155062 [GRCh37] Chr16:51490596..88682563 [NCBI36] Chr16:16q12.2-24.3	pathogenic
GRCh38/hg38 16q23.1(chr16:75227456-75731127)x3	copy number gain	See cases [RCV000143189]	Chr16:75227456..75731127 [GRCh38] Chr16:75261354..75765025 [GRCh37] Chr16:73818855..74322526 [NCBI36] Chr16:16q23.1	uncertain significance
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	copy number gain	See cases [RCV000143742]	Chr16:65957829..83611443 [GRCh38] Chr16:65991732..83645048 [GRCh37] Chr16:64549233..82202549 [NCBI36] Chr16:16q21-23.3	pathogenic
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	copy number gain	See cases [RCV000240108]	Chr16:74872514..90274440 [GRCh37] Chr16:16q23.1-24.3	pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	copy number loss	Breast ductal adenocarcinoma [RCV000207138]	Chr16:46615804..90142285 [GRCh37] Chr16:16q11.2-24.3	uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	copy number loss	Breast ductal adenocarcinoma [RCV000207182]	Chr16:72107834..90142285 [GRCh37] Chr16:16q22.2-24.3	uncertain significance
NM_005548.3(KARS1):c.1079-7C>T	single nucleotide variant	not provided [RCV000712052]\|not specified [RCV000219543]	Chr16:75631596 [GRCh38] Chr16:75665494 [GRCh37] Chr16:16q23.1	benign\|likely benign
NM_005548.3(KARS1):c.1784C>G (p.Thr595Ser)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 89 [RCV000986180]\|not provided [RCV001511647]\|not specified [RCV000223592]	Chr16:75627905 [GRCh38] Chr16:75661803 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.-1G>T	single nucleotide variant	not specified [RCV000217361]	Chr16:75647640 [GRCh38] Chr16:75681538 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.612A>G (p.Thr204=)	single nucleotide variant	KARS1-related disorder [RCV004530295]\|not provided [RCV000959291]\|not specified [RCV000219788]	Chr16:75635969 [GRCh38] Chr16:75669867 [GRCh37] Chr16:16q23.1	benign\|likely benign\|uncertain significance
NM_005548.3(KARS1):c.22G>T (p.Glu8Ter)	single nucleotide variant	Inborn genetic diseases [RCV000210604]	Chr16:75647618 [GRCh38] Chr16:75681516 [GRCh37] Chr16:16q23.1	likely pathogenic
NM_005548.3(KARS1):c.708G>C (p.Leu236=)	single nucleotide variant	not specified [RCV000213450]	Chr16:75635767 [GRCh38] Chr16:75669665 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 89 [RCV000986183]\|Charcot-Marie-Tooth disease recessive intermediate B [RCV003147413]\|Deafness, congenital, and adult-onset progressive leukoencephalopathy [RCV001293662]\|Hearing loss, autosomal recessive [RCV004699121]\|Inborn genetic diseases [RCV000210691]\|KARS-related disorder [RCV001265601]\|KARS1-related disorder [RCV001526444]\|LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS [RCV001293661]\|Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV002463662]\|Optic neuropathy [RCV000681462]\|not provided [RCV001775672]	Chr16:75635982 [GRCh38] Chr16:75669880 [GRCh37] Chr16:16q23.1	pathogenic\|likely pathogenic
NM_005548.3(KARS1):c.274G>C (p.Glu92Gln)	single nucleotide variant	Charcot-Marie-Tooth disease recessive intermediate B [RCV002485386]\|not provided [RCV001507345]\|not specified [RCV000213605]	Chr16:75640298 [GRCh38] Chr16:75674196 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1551+10G>A	single nucleotide variant	not provided [RCV003565394]\|not specified [RCV000218072]	Chr16:75629405 [GRCh38] Chr16:75663303 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.601T>C (p.Tyr201His)	single nucleotide variant	not provided [RCV001521070]\|not specified [RCV000220351]	Chr16:75635980 [GRCh38] Chr16:75669878 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.5C>T (p.Ala2Val)	single nucleotide variant	not specified [RCV000213993]	Chr16:75647635 [GRCh38] Chr16:75681533 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1485A>G (p.Ile495Met)	single nucleotide variant	Hearing impairment [RCV001375243]\|not provided [RCV000992213]\|not specified [RCV000220555]	Chr16:75629481 [GRCh38] Chr16:75663379 [GRCh37] Chr16:16q23.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_005548.3(KARS1):c.75A>G (p.Arg25=)	single nucleotide variant	not provided [RCV001513117]\|not specified [RCV000216275]	Chr16:75641711 [GRCh38] Chr16:75675609 [GRCh37] Chr16:16q23.1	benign\|likely benign
NM_005548.3(KARS1):c.1674C>T (p.Leu558=)	single nucleotide variant	not provided [RCV000957451]\|not specified [RCV000218685]	Chr16:75628590 [GRCh38] Chr16:75662488 [GRCh37] Chr16:16q23.1	benign\|likely benign\|conflicting interpretations of pathogenicity
Single allele	complex	Breast ductal adenocarcinoma [RCV000207314]	Chr16:56368689..90141355 [GRCh37] Chr16:16q12.2-24.3	uncertain significance
NM_005548.3(KARS1):c.170A>G (p.Asn57Ser)	single nucleotide variant	not provided [RCV000843286]\|not specified [RCV000216707]	Chr16:75641616 [GRCh38] Chr16:75675514 [GRCh37] Chr16:16q23.1	benign\|likely benign
NM_005548.3(KARS1):c.1258C>T (p.Arg420Cys)	single nucleotide variant	KARS1-related disorder [RCV004530270]\|not provided [RCV000957423]\|not specified [RCV000223236]	Chr16:75631248 [GRCh38] Chr16:75665146 [GRCh37] Chr16:16q23.1	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_005548.3(KARS1):c.1438G>C (p.Glu480Gln)	single nucleotide variant	not provided [RCV002517557]\|not specified [RCV000216965]	Chr16:75629528 [GRCh38] Chr16:75663426 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.797T>C (p.Ile266Thr)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 89 [RCV001374668]\|not provided [RCV002469383]	Chr16:75634291 [GRCh38] Chr16:75668189 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.*33G>A	single nucleotide variant	not provided [RCV001592305]	Chr16:75627862 [GRCh38] Chr16:75661760 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1350G>C (p.Glu450Asp)	single nucleotide variant	not provided [RCV002522891]\|not specified [RCV000604193]	Chr16:75630497 [GRCh38] Chr16:75664395 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1782C>T (p.Gly594=)	single nucleotide variant	KARS1-related disorder [RCV004536234]\|not provided [RCV001613485]	Chr16:75627907 [GRCh38] Chr16:75661805 [GRCh37] Chr16:16q23.1	benign\|uncertain significance
NM_005548.3(KARS1):c.1695+5G>A	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 89 [RCV001290015]	Chr16:75628564 [GRCh38] Chr16:75662462 [GRCh37] Chr16:16q23.1	likely benign\|uncertain significance
NM_001130089.1(KARS1):c.-108C>T	single nucleotide variant	Charcot-Marie-Tooth, Intermediate [RCV000366025]	Chr16:75647651 [GRCh38] Chr16:75681549 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.63-2663C>T	single nucleotide variant	not provided [RCV001812853]\|not specified [RCV004021676]	Chr16:75644386 [GRCh38] Chr16:75678284 [GRCh37] Chr16:16q23.1	uncertain significance
NM_001130089.1(KARS1):c.1554C>T (p.Val518=)	single nucleotide variant	Charcot-Marie-Tooth, Intermediate [RCV000277669]	Chr16:75629496 [GRCh38] Chr16:75663394 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.*59G>A	single nucleotide variant	not provided [RCV001565801]	Chr16:75627836 [GRCh38] Chr16:75661734 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.-11C>T	single nucleotide variant	not provided [RCV001759093]	Chr16:75647650 [GRCh38] Chr16:75681548 [GRCh37] Chr16:16q23.1	likely benign\|uncertain significance
NM_005548.3(KARS1):c.222+10C>T	single nucleotide variant	not provided [RCV000841321]	Chr16:75641554 [GRCh38] Chr16:75675452 [GRCh37] Chr16:16q23.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005548.3(KARS1):c.1259G>A (p.Arg420His)	single nucleotide variant	not provided [RCV002579865]\|not specified [RCV004631998]	Chr16:75631247 [GRCh38] Chr16:75665145 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.669+6C>T	single nucleotide variant	not provided [RCV001560453]	Chr16:75635906 [GRCh38] Chr16:75669804 [GRCh37] Chr16:16q23.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005548.3(KARS1):c.482+8G>A	single nucleotide variant	not provided [RCV000731339]	Chr16:75636446 [GRCh38] Chr16:75670344 [GRCh37] Chr16:16q23.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_001130089.1(KARS1):c.1551T>G (p.Phe517Leu)	single nucleotide variant	Charcot-Marie-Tooth, Intermediate [RCV000332659]	Chr16:75629499 [GRCh38] Chr16:75663397 [GRCh37] Chr16:16q23.1	uncertain significance
NM_001130089.1(KARS1):c.1333G>A (p.Glu445Lys)	single nucleotide variant	Charcot-Marie-Tooth, Intermediate [RCV000383604]	Chr16:75631419 [GRCh38] Chr16:75665317 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.600G>A (p.Pro200=)	single nucleotide variant	not provided [RCV001757545]	Chr16:75635981 [GRCh38] Chr16:75669879 [GRCh37] Chr16:16q23.1	likely benign\|uncertain significance
NM_005548.3(KARS1):c.1725C>T (p.Pro575=)	single nucleotide variant	not provided [RCV002589157]	Chr16:75627964 [GRCh38] Chr16:75661862 [GRCh37] Chr16:16q23.1	benign\|uncertain significance
NM_005548.3(KARS1):c.1695+4C>T	single nucleotide variant	not provided [RCV001508414]	Chr16:75628565 [GRCh38] Chr16:75662463 [GRCh37] Chr16:16q23.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_005548.3(KARS1):c.1425-13C>T	single nucleotide variant	not provided [RCV001539199]	Chr16:75629554 [GRCh38] Chr16:75663452 [GRCh37] Chr16:16q23.1	likely benign\|uncertain significance
NM_005548.3(KARS1):c.916-10T>G	single nucleotide variant	not provided [RCV002237049]	Chr16:75631865 [GRCh38] Chr16:75665763 [GRCh37] Chr16:16q23.1	likely benign\|uncertain significance
NM_005548.3(KARS1):c.*26C>G	single nucleotide variant	not provided [RCV001567060]	Chr16:75627869 [GRCh38] Chr16:75661767 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.967C>T (p.Arg323Trp)	single nucleotide variant	not provided [RCV000489266]	Chr16:75631804 [GRCh38] Chr16:75665702 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.904C>T (p.Leu302Phe)	single nucleotide variant	not provided [RCV000489757]	Chr16:75634184 [GRCh38] Chr16:75668082 [GRCh37] Chr16:16q23.1	uncertain significance
NM_001130089.1(KARS1):c.1634A>G (p.Lys545Arg)	single nucleotide variant	Charcot-Marie-Tooth, Intermediate [RCV000367658]	Chr16:75629416 [GRCh38] Chr16:75663314 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.157G>A (p.Ala53Thr)	single nucleotide variant	not provided [RCV004592965]\|not specified [RCV000600033]	Chr16:75641629 [GRCh38] Chr16:75675527 [GRCh37] Chr16:16q23.1	likely benign\|uncertain significance
NM_005548.3(KARS1):c.170A>T (p.Asn57Ile)	single nucleotide variant	not provided [RCV002291679]\|not specified [RCV000601549]	Chr16:75641616 [GRCh38] Chr16:75675514 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1472T>C (p.Met491Thr)	single nucleotide variant	not provided [RCV004808803]\|not specified [RCV004025268]	Chr16:75629494 [GRCh38] Chr16:75663392 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1015G>A (p.Glu339Lys)	single nucleotide variant	not specified [RCV004025267]	Chr16:75631756 [GRCh38] Chr16:75665654 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1486T>C (p.Cys496Arg)	single nucleotide variant	not provided [RCV000732327]	Chr16:75629480 [GRCh38] Chr16:75663378 [GRCh37] Chr16:16q23.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_005548.3(KARS1):c.93G>T (p.Lys31Asn)	single nucleotide variant	not provided [RCV000731554]	Chr16:75641693 [GRCh38] Chr16:75675591 [GRCh37] Chr16:16q23.1	uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3	copy number gain	See cases [RCV000446110]	Chr16:46464488..90155062 [GRCh37] Chr16:16q11.2-24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	copy number gain	See cases [RCV000446684]	Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16q23.1(chr16:74150909-77077326)x1	copy number loss	See cases [RCV000512133]	Chr16:74150909..77077326 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.717T>G (p.Phe239Leu)	single nucleotide variant	Hearing impairment [RCV001375254]\|not provided [RCV000767138]\|not specified [RCV000478894]	Chr16:75635758 [GRCh38] Chr16:75669656 [GRCh37] Chr16:16q23.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln)	single nucleotide variant	Charcot-Marie-Tooth disease recessive intermediate B [RCV000625381]\|Hearing impairment [RCV001375150]\|KARS1-related disorder [RCV004541585]\|not provided [RCV000755555]\|not specified [RCV000506064]	Chr16:75631490 [GRCh38] Chr16:75665388 [GRCh37] Chr16:16q23.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	copy number gain	See cases [RCV000511622]	Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3	uncertain significance
NM_005548.3(KARS1):c.222+3G>A	single nucleotide variant	not specified [RCV000507810]	Chr16:75641561 [GRCh38] Chr16:75675459 [GRCh37] Chr16:16q23.1	pathogenic\|uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	copy number gain	See cases [RCV000512138]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
NM_005548.3(KARS1):c.421A>C (p.Lys141Gln)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 89 [RCV003318463]	Chr16:75636515 [GRCh38] Chr16:75670413 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1184A>G (p.Asn395Ser)	single nucleotide variant	not provided [RCV002233897]\|not specified [RCV000601714]	Chr16:75631484 [GRCh38] Chr16:75665382 [GRCh37] Chr16:16q23.1	likely benign\|uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	copy number gain	See cases [RCV000511296]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429]	Chr16:46497599..90354753 [GRCh37] Chr16:16q11.2-24.3	drug response
NM_005548.3(KARS1):c.1448C>G (p.Thr483Ser)	single nucleotide variant	not provided [RCV002529299]\|not specified [RCV000615627]	Chr16:75629518 [GRCh38] Chr16:75663416 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.898C>T (p.Pro300Ser)	single nucleotide variant	not specified [RCV000613113]	Chr16:75634190 [GRCh38] Chr16:75668088 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.159T>A (p.Ala53=)	single nucleotide variant	not specified [RCV000610613]	Chr16:75641627 [GRCh38] Chr16:75675525 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1677G>A (p.Thr559=)	single nucleotide variant	not specified [RCV000613574]	Chr16:75628587 [GRCh38] Chr16:75662485 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.759T>C (p.Tyr253=)	single nucleotide variant	not provided [RCV001537229]\|not specified [RCV000613739]	Chr16:75635716 [GRCh38] Chr16:75669614 [GRCh37] Chr16:16q23.1	benign\|likely benign
NM_005548.3(KARS1):c.426C>T (p.Leu142=)	single nucleotide variant	KARS1-related disorder [RCV004544771]\|not provided [RCV000879410]	Chr16:75636510 [GRCh38] Chr16:75670408 [GRCh37] Chr16:16q23.1	benign\|likely benign
NM_005548.3(KARS1):c.223-7_223-6del	deletion	Charcot-Marie-Tooth disease recessive intermediate B [RCV000625093]\|not specified [RCV001701409]	Chr16:75640355..75640356 [GRCh38] Chr16:75674253..75674254 [GRCh37] Chr16:16q23.1	benign
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	copy number gain	See cases [RCV000512511]	Chr16:57051473..89797669 [GRCh37] Chr16:16q13-24.3	pathogenic
NM_005548.3(KARS1):c.989C>T (p.Thr330Met)	single nucleotide variant	not provided [RCV000597828]	Chr16:75631782 [GRCh38] Chr16:75665680 [GRCh37] Chr16:16q23.1	uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435]	Chr16:46455960..90354753 [GRCh37] Chr16:16q11.2-24.3	drug response
NM_005548.3(KARS1):c.690A>T (p.Arg230Ser)	single nucleotide variant	Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV003322806]\|not provided [RCV000660587]\|not specified [RCV004026058]	Chr16:75635785 [GRCh38] Chr16:75669683 [GRCh37] Chr16:16q23.1	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005548.3(KARS1):c.787T>G (p.Phe263Val)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 89 [RCV001374667]\|Deafness, congenital, and adult-onset progressive leukoencephalopathy [RCV001293664]\|Optic neuropathy [RCV000681463]\|not provided [RCV001200599]	Chr16:75635688 [GRCh38] Chr16:75669586 [GRCh37] Chr16:16q23.1	pathogenic\|uncertain significance
NM_005548.3(KARS1):c.1354del (p.Leu452fs)	deletion	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS [RCV001293663]\|Sensorineural hearing loss disorder [RCV000678489]\|not provided [RCV005091975]	Chr16:75630493 [GRCh38] Chr16:75664391 [GRCh37] Chr16:16q23.1	pathogenic\|likely pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	copy number gain	not provided [RCV000683831]	Chr16:72515938..90155062 [GRCh37] Chr16:16q22.2-24.3	pathogenic
NM_005548.3(KARS1):c.223-23dup	duplication	not provided [RCV001572682]\|not specified [RCV001701198]	Chr16:75640354..75640355 [GRCh38] Chr16:75674252..75674253 [GRCh37] Chr16:16q23.1	benign\|likely benign
NM_005548.3(KARS1):c.222+86del	deletion	not provided [RCV001571237]	Chr16:75641478 [GRCh38] Chr16:75675376 [GRCh37] Chr16:16q23.1	likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3	copy number gain	not provided [RCV000738918]	Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3	copy number gain	not provided [RCV000738915]	Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3	copy number gain	not provided [RCV000738917]	Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16q23.1(chr16:75428474-75729424)x3	copy number gain	not provided [RCV000739215]	Chr16:75428474..75729424 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.1338+169G>A	single nucleotide variant	not provided [RCV001611410]	Chr16:75630999 [GRCh38] Chr16:75664897 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.1339-272C>T	single nucleotide variant	not provided [RCV001709318]	Chr16:75630780 [GRCh38] Chr16:75664678 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.1079-14G>A	single nucleotide variant	not provided [RCV001585487]	Chr16:75631603 [GRCh38] Chr16:75665501 [GRCh37] Chr16:16q23.1	benign\|likely benign
NM_005548.3(KARS1):c.1629C>A (p.Pro543=)	single nucleotide variant	not provided [RCV003312350]	Chr16:75628635 [GRCh38] Chr16:75662533 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.307A>G (p.Ile103Val)	single nucleotide variant	not provided [RCV003312351]\|not specified [RCV004333258]	Chr16:75640265 [GRCh38] Chr16:75674163 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1552-263C>G	single nucleotide variant	not provided [RCV001551285]	Chr16:75628975 [GRCh38] Chr16:75662873 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1552-257C>T	single nucleotide variant	not provided [RCV001581522]	Chr16:75628969 [GRCh38] Chr16:75662867 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1552-220del	deletion	not provided [RCV001547071]	Chr16:75628932 [GRCh38] Chr16:75662830 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1132C>T (p.Pro378Ser)	single nucleotide variant	not provided [RCV005054810]	Chr16:75631536 [GRCh38] Chr16:75665434 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1161C>T (p.Phe387=)	single nucleotide variant	KARS1-related disorder [RCV004533553]\|not provided [RCV000922743]	Chr16:75631507 [GRCh38] Chr16:75665405 [GRCh37] Chr16:16q23.1	benign\|likely benign
NM_005548.3(KARS1):c.1256C>T (p.Thr419Ile)	single nucleotide variant	Charcot-Marie-Tooth disease recessive intermediate B [RCV002221587]\|not provided [RCV002235473]\|not specified [RCV000825349]	Chr16:75631250 [GRCh38] Chr16:75665148 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.2(KARS1):c.581dup (p.Gly194_Glu195insTer)	duplication	Charcot-Marie-Tooth, Intermediate [RCV000778480]	Chr16:75635999..75636000 [GRCh38] Chr16:75669897..75669898 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1253-77del	deletion	not provided [RCV000842038]\|not specified [RCV004594213]	Chr16:75631330 [GRCh38] Chr16:75665228 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.223-8_223-6del	deletion	Charcot-Marie-Tooth disease recessive intermediate B [RCV002489340]\|not provided [RCV000959292]	Chr16:75640355..75640357 [GRCh38] Chr16:75674253..75674255 [GRCh37] Chr16:16q23.1	benign\|likely benign
NM_005548.3(KARS1):c.915+8G>A	single nucleotide variant	not provided [RCV000966400]	Chr16:75634165 [GRCh38] Chr16:75668063 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.62+56A>G	single nucleotide variant	not provided [RCV000839265]	Chr16:75647522 [GRCh38] Chr16:75681420 [GRCh37] Chr16:16q23.1	likely benign
NM_001130089.1:c.306+10C>T	single nucleotide variant	not provided [RCV000841321]	Chr16:75675452 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1704T>C (p.Leu568=)	single nucleotide variant	not provided [RCV000841417]	Chr16:75627985 [GRCh38] Chr16:75661883 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1275T>C (p.Asp425=)	single nucleotide variant	not specified [RCV000825174]	Chr16:75631231 [GRCh38] Chr16:75665129 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1232C>T (p.Thr411Met)	single nucleotide variant	not provided [RCV002235475]\|not specified [RCV000825942]	Chr16:75631436 [GRCh38] Chr16:75665334 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1380A>C (p.Thr460=)	single nucleotide variant	not provided [RCV000840678]	Chr16:75630467 [GRCh38] Chr16:75664365 [GRCh37] Chr16:16q23.1	likely benign
NM_001130089.1:c.566+8G>A	single nucleotide variant	not provided [RCV000840708]	Chr16:75670344 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.330A>G (p.Gln110=)	single nucleotide variant	KARS1-related disorder [RCV004540126]\|not provided [RCV000827321]	Chr16:75640242 [GRCh38] Chr16:75674140 [GRCh37] Chr16:16q23.1	likely benign
GRCh37/hg19 16q23.1(chr16:75275780-75684031)x1	copy number loss	not provided [RCV000846687]	Chr16:75275780..75684031 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.916-85A>G	single nucleotide variant	not provided [RCV000838661]	Chr16:75631940 [GRCh38] Chr16:75665838 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.388+74G>A	single nucleotide variant	not provided [RCV000842039]	Chr16:75640110 [GRCh38] Chr16:75674008 [GRCh37] Chr16:16q23.1	benign
GRCh37/hg19 16q22.2-23.1(chr16:72677179-77439111)x1	copy number loss	not provided [RCV000847084]	Chr16:72677179..77439111 [GRCh37] Chr16:16q22.2-23.1	uncertain significance
NM_001130089.1(KARS1):c.-184C>T	single nucleotide variant	not provided [RCV000843664]	Chr16:75647727 [GRCh38] Chr16:75681625 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.440_441dup (p.Arg148fs)	duplication	Charcot-Marie-Tooth disease [RCV000789690]	Chr16:75636494..75636495 [GRCh38] Chr16:75670392..75670393 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.411T>C (p.Ala137=)	single nucleotide variant	not provided [RCV000940400]	Chr16:75636525 [GRCh38] Chr16:75670423 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.63-2670G>T	single nucleotide variant	not provided [RCV000942503]	Chr16:75644393 [GRCh38] Chr16:75678291 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1552-6T>G	single nucleotide variant	KARS1-related disorder [RCV004543440]\|not provided [RCV000916645]	Chr16:75628718 [GRCh38] Chr16:75662616 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1724C>G (p.Pro575Arg)	single nucleotide variant	not provided [RCV000992214]	Chr16:75627965 [GRCh38] Chr16:75661863 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1430G>A (p.Arg477His)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 89 [RCV000986182]\|Deafness, congenital, and adult-onset progressive leukoencephalopathy [RCV001293658]\|LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS [RCV001293659]	Chr16:75629536 [GRCh38] Chr16:75663434 [GRCh37] Chr16:16q23.1	pathogenic\|likely pathogenic
NM_005548.3(KARS1):c.1732AAG[1] (p.Lys579del)	microsatellite	not specified [RCV001195495]	Chr16:75627952..75627954 [GRCh38] Chr16:75661850..75661852 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1450G>A (p.Glu484Lys)	single nucleotide variant	not provided [RCV000996344]	Chr16:75629516 [GRCh38] Chr16:75663414 [GRCh37] Chr16:16q23.1	uncertain significance
NC_000016.9:g.(?_75674062)_(75674267_?)del	deletion	not provided [RCV003105475]	Chr16:75674062..75674267 [GRCh37] Chr16:16q23.1	pathogenic
NM_005548.3(KARS1):c.1425-31T>C	single nucleotide variant	not provided [RCV001582040]	Chr16:75629572 [GRCh38] Chr16:75663470 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.223-251T>C	single nucleotide variant	not provided [RCV001568630]	Chr16:75640600 [GRCh38] Chr16:75674498 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1696-21G>A	single nucleotide variant	not provided [RCV001574199]	Chr16:75628014 [GRCh38] Chr16:75661912 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1634C>G (p.Ala545Gly)	single nucleotide variant	not provided [RCV003318079]	Chr16:75628630 [GRCh38] Chr16:75662528 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1339-143TAA[7]	microsatellite	not provided [RCV001653188]	Chr16:75630628..75630630 [GRCh38] Chr16:75664526..75664528 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.1551+207C>T	single nucleotide variant	not provided [RCV001666377]	Chr16:75629208 [GRCh38] Chr16:75663106 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.1551+211T>C	single nucleotide variant	not provided [RCV001556570]	Chr16:75629204 [GRCh38] Chr16:75663102 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1695+247G>A	single nucleotide variant	not provided [RCV001717731]	Chr16:75628322 [GRCh38] Chr16:75662220 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.62+269G>C	single nucleotide variant	not provided [RCV001592179]	Chr16:75647309 [GRCh38] Chr16:75681207 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.915+56C>G	single nucleotide variant	not provided [RCV001717897]	Chr16:75634117 [GRCh38] Chr16:75668015 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.1338+47T>C	single nucleotide variant	not provided [RCV001717726]\|not specified [RCV004594565]	Chr16:75631121 [GRCh38] Chr16:75665019 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.1552-315A>C	single nucleotide variant	not provided [RCV001651791]	Chr16:75629027 [GRCh38] Chr16:75662925 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.795+312C>T	single nucleotide variant	not provided [RCV001680268]	Chr16:75635368 [GRCh38] Chr16:75669266 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.916-189G>A	single nucleotide variant	not provided [RCV001714822]	Chr16:75632044 [GRCh38] Chr16:75665942 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.1424+253C>G	single nucleotide variant	not provided [RCV001616162]	Chr16:75630170 [GRCh38] Chr16:75664068 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.1695+187del	deletion	not provided [RCV001540608]	Chr16:75628382 [GRCh38] Chr16:75662280 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.1707G>C (p.Leu569=)	single nucleotide variant	not provided [RCV000930460]	Chr16:75627982 [GRCh38] Chr16:75661880 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.771C>T (p.Phe257=)	single nucleotide variant	not provided [RCV000932019]	Chr16:75635704 [GRCh38] Chr16:75669602 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.223-7_223-6dup	duplication	KARS1-related disorder [RCV004738059]\|not provided [RCV000892991]	Chr16:75640354..75640355 [GRCh38] Chr16:75674252..75674253 [GRCh37] Chr16:16q23.1	benign\|likely benign
NM_005548.3(KARS1):c.1368C>T (p.Cys456=)	single nucleotide variant	not provided [RCV000910959]	Chr16:75630479 [GRCh38] Chr16:75664377 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1662C>T (p.Val554=)	single nucleotide variant	not provided [RCV000911559]	Chr16:75628602 [GRCh38] Chr16:75662500 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1476G>A (p.Lys492=)	single nucleotide variant	not provided [RCV000911454]	Chr16:75629490 [GRCh38] Chr16:75663388 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.63-2653C>T	single nucleotide variant	not provided [RCV000912056]	Chr16:75644376 [GRCh38] Chr16:75678274 [GRCh37] Chr16:16q23.1	benign\|likely benign
NM_005548.3(KARS1):c.222+166G>A	single nucleotide variant	not provided [RCV001569839]	Chr16:75641398 [GRCh38] Chr16:75675296 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1424+246T>C	single nucleotide variant	not provided [RCV001558025]	Chr16:75630177 [GRCh38] Chr16:75664075 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.222+71G>A	single nucleotide variant	not provided [RCV001558203]	Chr16:75641493 [GRCh38] Chr16:75675391 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.63-20C>T	single nucleotide variant	not provided [RCV001558232]	Chr16:75641743 [GRCh38] Chr16:75675641 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.388+130A>T	single nucleotide variant	not provided [RCV001558248]	Chr16:75640054 [GRCh38] Chr16:75673952 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.388+58A>T	single nucleotide variant	not provided [RCV001558250]	Chr16:75640126 [GRCh38] Chr16:75674024 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.915+117G>A	single nucleotide variant	not provided [RCV001717724]	Chr16:75634056 [GRCh38] Chr16:75667954 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.63-19G>A	single nucleotide variant	not provided [RCV001553285]	Chr16:75641742 [GRCh38] Chr16:75675640 [GRCh37] Chr16:16q23.1	benign\|likely benign
NM_005548.3(KARS1):c.1657C>T (p.Arg553Ter)	single nucleotide variant	not provided [RCV003231059]	Chr16:75628607 [GRCh38] Chr16:75662505 [GRCh37] Chr16:16q23.1	likely pathogenic
NM_005548.3(KARS1):c.388+44A>C	single nucleotide variant	not provided [RCV001576602]	Chr16:75640140 [GRCh38] Chr16:75674038 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.796-282C>A	single nucleotide variant	not provided [RCV001550491]	Chr16:75634574 [GRCh38] Chr16:75668472 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.916-147G>A	single nucleotide variant	not provided [RCV001556191]	Chr16:75632002 [GRCh38] Chr16:75665900 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.973G>A (p.Glu325Lys)	single nucleotide variant	not provided [RCV002469810]	Chr16:75631798 [GRCh38] Chr16:75665696 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1294G>A (p.Val432Ile)	single nucleotide variant	not provided [RCV004819139]	Chr16:75631212 [GRCh38] Chr16:75665110 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1552-273G>A	single nucleotide variant	not provided [RCV001659240]	Chr16:75628985 [GRCh38] Chr16:75662883 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.483-132G>T	single nucleotide variant	not provided [RCV001621633]	Chr16:75636230 [GRCh38] Chr16:75670128 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.389-95dup	duplication	not provided [RCV001619168]	Chr16:75636631..75636632 [GRCh38] Chr16:75670529..75670530 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.795+281_795+284del	deletion	not provided [RCV001717907]	Chr16:75635396..75635399 [GRCh38] Chr16:75669294..75669297 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.62+208G>A	single nucleotide variant	not provided [RCV001621644]	Chr16:75647370 [GRCh38] Chr16:75681268 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.223-229G>A	single nucleotide variant	not provided [RCV001598815]	Chr16:75640578 [GRCh38] Chr16:75674476 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.1551+123dup	duplication	not provided [RCV001674775]	Chr16:75629290..75629291 [GRCh38] Chr16:75663188..75663189 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.388+129C>T	single nucleotide variant	not provided [RCV001618854]	Chr16:75640055 [GRCh38] Chr16:75673953 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.796-135C>T	single nucleotide variant	not provided [RCV001684415]	Chr16:75634427 [GRCh38] Chr16:75668325 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.389-85del	deletion	not provided [RCV001647729]\|not specified [RCV004598064]	Chr16:75636632 [GRCh38] Chr16:75670530 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.483-29T>C	single nucleotide variant	not provided [RCV001538651]	Chr16:75636127 [GRCh38] Chr16:75670025 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.63-258G>A	single nucleotide variant	not provided [RCV001545466]	Chr16:75641981 [GRCh38] Chr16:75675879 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.222+231C>T	single nucleotide variant	not provided [RCV001566922]	Chr16:75641333 [GRCh38] Chr16:75675231 [GRCh37] Chr16:16q23.1	likely benign
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	copy number gain	not provided [RCV001249359]	Chr16:61524229..90155062 [GRCh37] Chr16:16q21-24.3	not provided
NM_005548.3(KARS1):c.1335C>G (p.Asp445Glu)	single nucleotide variant	not provided [RCV002280414]\|not specified [RCV004047546]	Chr16:75631171 [GRCh38] Chr16:75665069 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1676C>T (p.Thr559Met)	single nucleotide variant	Inborn genetic diseases [RCV001266817]\|Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV002463798]\|not provided [RCV001760311]	Chr16:75628588 [GRCh38] Chr16:75662486 [GRCh37] Chr16:16q23.1	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_005548.3(KARS1):c.1424+34C>T	single nucleotide variant	not provided [RCV001565045]	Chr16:75630389 [GRCh38] Chr16:75664287 [GRCh37] Chr16:16q23.1	likely benign
GRCh37/hg19 16q23.1(chr16:75554118-75823234)x3	copy number gain	not provided [RCV001259870]	Chr16:75554118..75823234 [GRCh37] Chr16:16q23.1	uncertain significance
GRCh37/hg19 16q23.1(chr16:75281963-75665698)x3	copy number gain	not provided [RCV001259871]	Chr16:75281963..75665698 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.979A>G (p.Ile327Val)	single nucleotide variant	not provided [RCV001812355]\|not specified [RCV004035530]	Chr16:75631792 [GRCh38] Chr16:75665690 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1513C>T (p.Pro505Ser)	single nucleotide variant	Deafness, congenital, and adult-onset progressive leukoencephalopathy [RCV001293660]	Chr16:75629453 [GRCh38] Chr16:75663351 [GRCh37] Chr16:16q23.1	pathogenic
NM_005548.3(KARS1):c.1702C>T (p.Leu568Phe)	single nucleotide variant	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS [RCV001293665]	Chr16:75627987 [GRCh38] Chr16:75661885 [GRCh37] Chr16:16q23.1	pathogenic
NM_005548.3(KARS1):c.1663G>A (p.Ala555Thr)	single nucleotide variant	not provided [RCV001787432]\|not specified [RCV004040835]	Chr16:75628601 [GRCh38] Chr16:75662499 [GRCh37] Chr16:16q23.1	likely benign\|uncertain significance
NM_005548.3(KARS1):c.1312C>T (p.Arg438Trp)	single nucleotide variant	KARS1-related disorder [RCV004531073]\|Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV001293656]	Chr16:75631194 [GRCh38] Chr16:75665092 [GRCh37] Chr16:16q23.1	pathogenic\|likely pathogenic
NM_005548.3(KARS1):c.1742A>C (p.Asn581Thr)	single nucleotide variant	not specified [RCV001449842]	Chr16:75627947 [GRCh38] Chr16:75661845 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.299A>C (p.His100Pro)	single nucleotide variant	not provided [RCV001507344]	Chr16:75640273 [GRCh38] Chr16:75674171 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.795+1G>A	single nucleotide variant	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS [RCV001293666]	Chr16:75635679 [GRCh38] Chr16:75669577 [GRCh37] Chr16:16q23.1	pathogenic
NM_005548.3(KARS1):c.750C>G (p.Ile250Met)	single nucleotide variant	not provided [RCV001507343]	Chr16:75635725 [GRCh38] Chr16:75669623 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.916-110C>T	single nucleotide variant	not provided [RCV001538317]	Chr16:75631965 [GRCh38] Chr16:75665863 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.915+280G>A	single nucleotide variant	not provided [RCV001536523]	Chr16:75633893 [GRCh38] Chr16:75667791 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.1338+61C>T	single nucleotide variant	not provided [RCV001540315]	Chr16:75631107 [GRCh38] Chr16:75665005 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.434A>G (p.Tyr145Cys)	single nucleotide variant	not provided [RCV001588670]	Chr16:75636502 [GRCh38] Chr16:75670400 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.916-180C>G	single nucleotide variant	not provided [RCV001618928]	Chr16:75632035 [GRCh38] Chr16:75665933 [GRCh37] Chr16:16q23.1	benign
NM_018975.4(TERF2IP):c.-25C>A	single nucleotide variant	not provided [RCV001649983]\|not specified [RCV002268547]	Chr16:75647858 [GRCh38] Chr16:75681756 [GRCh37] Chr16:16q23.1	benign
NM_005548.3(KARS1):c.1551+302G>T	single nucleotide variant	not provided [RCV001545700]	Chr16:75629113 [GRCh38] Chr16:75663011 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1424+49G>A	single nucleotide variant	not provided [RCV001592228]	Chr16:75630374 [GRCh38] Chr16:75664272 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1252+9A>C	single nucleotide variant	not provided [RCV001592288]	Chr16:75631407 [GRCh38] Chr16:75665305 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1262A>G (p.Lys421Arg)	single nucleotide variant	not provided [RCV001508415]	Chr16:75631244 [GRCh38] Chr16:75665142 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1175G>A (p.Arg392Gln)	single nucleotide variant	not provided [RCV001755633]\|not specified [RCV004040739]	Chr16:75631493 [GRCh38] Chr16:75665391 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.779A>C (p.Glu260Ala)	single nucleotide variant	not provided [RCV002237051]	Chr16:75635696 [GRCh38] Chr16:75669594 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.515T>A (p.Ile172Asn)	single nucleotide variant	not provided [RCV002237057]\|not specified [RCV004631982]	Chr16:75636066 [GRCh38] Chr16:75669964 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.450G>A (p.Glu150=)	single nucleotide variant	KARS1-related disorder [RCV004533990]\|not provided [RCV002237058]	Chr16:75636486 [GRCh38] Chr16:75670384 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.223-6T>A	single nucleotide variant	KARS1-related disorder [RCV004533991]\|not provided [RCV002237063]	Chr16:75640355 [GRCh38] Chr16:75674253 [GRCh37] Chr16:16q23.1	benign\|likely benign
NM_005548.3(KARS1):c.795+3A>C	single nucleotide variant	not provided [RCV003109021]	Chr16:75635677 [GRCh38] Chr16:75669575 [GRCh37] Chr16:16q23.1	uncertain significance
NC_000016.9:g.(?_75428968)_(75690509_?)del	deletion	not provided [RCV002239772]	Chr16:75428968..75690509 [GRCh37] Chr16:16q23.1	pathogenic\|uncertain significance
NC_000016.9:g.(?_75661793)_(75690509_?)dup	duplication	not provided [RCV002239773]	Chr16:75661793..75690509 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1688A>T (p.Asn563Ile)	single nucleotide variant	not provided [RCV002239866]	Chr16:75628576 [GRCh38] Chr16:75662474 [GRCh37] Chr16:16q23.1	pathogenic\|likely pathogenic\|uncertain significance
NM_005548.3(KARS1):c.1660G>T (p.Val554Phe)	single nucleotide variant	not provided [RCV002239867]	Chr16:75628604 [GRCh38] Chr16:75662502 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1660G>A (p.Val554Ile)	single nucleotide variant	not provided [RCV002239868]	Chr16:75628604 [GRCh38] Chr16:75662502 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1570G>C (p.Asp524His)	single nucleotide variant	not provided [RCV002239869]	Chr16:75628694 [GRCh38] Chr16:75662592 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1201G>C (p.Glu401Gln)	single nucleotide variant	not provided [RCV002239870]	Chr16:75631467 [GRCh38] Chr16:75665365 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1149C>T (p.Tyr383=)	single nucleotide variant	not provided [RCV002239871]	Chr16:75631519 [GRCh38] Chr16:75665417 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1127A>G (p.Asp376Gly)	single nucleotide variant	not provided [RCV002239872]	Chr16:75631541 [GRCh38] Chr16:75665439 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.63-2576T>C	single nucleotide variant	not provided [RCV002239881]	Chr16:75644299 [GRCh38] Chr16:75678197 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1464G>A (p.Leu488=)	single nucleotide variant	not provided [RCV002237035]	Chr16:75629502 [GRCh38] Chr16:75663400 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.739C>T (p.Arg247Cys)	single nucleotide variant	not provided [RCV002237054]	Chr16:75635736 [GRCh38] Chr16:75669634 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1753A>G (p.Thr585Ala)	single nucleotide variant	not provided [RCV002237033]	Chr16:75627936 [GRCh38] Chr16:75661834 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.786A>C (p.Gly262=)	single nucleotide variant	not provided [RCV002237050]	Chr16:75635689 [GRCh38] Chr16:75669587 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.321C>T (p.Asp107=)	single nucleotide variant	not provided [RCV002237061]	Chr16:75640251 [GRCh38] Chr16:75674149 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.699C>G (p.Asp233Glu)	single nucleotide variant	not provided [RCV003126981]	Chr16:75635776 [GRCh38] Chr16:75669674 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.916-13G>C	single nucleotide variant	not provided [RCV002239873]	Chr16:75631868 [GRCh38] Chr16:75665766 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.908A>G (p.Tyr303Cys)	single nucleotide variant	not provided [RCV002239874]	Chr16:75634180 [GRCh38] Chr16:75668078 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.814A>T (p.Asn272Tyr)	single nucleotide variant	not provided [RCV002239875]	Chr16:75634274 [GRCh38] Chr16:75668172 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.429C>T (p.Ile143=)	single nucleotide variant	not provided [RCV002239876]	Chr16:75636507 [GRCh38] Chr16:75670405 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.385G>A (p.Ala129Thr)	single nucleotide variant	not provided [RCV002239877]	Chr16:75640187 [GRCh38] Chr16:75674085 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.382G>A (p.Val128Met)	single nucleotide variant	Charcot-Marie-Tooth disease recessive intermediate B [RCV003147741]\|not provided [RCV002239878]	Chr16:75640190 [GRCh38] Chr16:75674088 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.374C>T (p.Thr125Ile)	single nucleotide variant	not provided [RCV002239879]	Chr16:75640198 [GRCh38] Chr16:75674096 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.63-2545C>T	single nucleotide variant	not provided [RCV002239880]	Chr16:75644268 [GRCh38] Chr16:75678166 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.388+19A>T	single nucleotide variant	not provided [RCV001757771]	Chr16:75640165 [GRCh38] Chr16:75674063 [GRCh37] Chr16:16q23.1	benign\|likely benign
NM_005548.3(KARS1):c.415G>T (p.Gly139Trp)	single nucleotide variant	not provided [RCV001757281]	Chr16:75636521 [GRCh38] Chr16:75670419 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.63-2684A>T	single nucleotide variant	not provided [RCV001776922]\|not specified [RCV004040782]	Chr16:75644407 [GRCh38] Chr16:75678305 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.232A>G (p.Lys78Glu)	single nucleotide variant	not provided [RCV001812576]	Chr16:75640340 [GRCh38] Chr16:75674238 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.682C>T (p.Arg228Cys)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 89 [RCV004808540]	Chr16:75635793 [GRCh38] Chr16:75669691 [GRCh37] Chr16:16q23.1	pathogenic
NM_005548.3(KARS1):c.1078+7C>T	single nucleotide variant	not provided [RCV001811923]	Chr16:75631686 [GRCh38] Chr16:75665584 [GRCh37] Chr16:16q23.1	uncertain significance
NC_000016.9:g.(?_75573892)_(75690509_?)del	deletion	Joubert syndrome 20 [RCV002044963]	Chr16:75573892..75690509 [GRCh37] Chr16:16q23.1	pathogenic
NM_005548.3(KARS1):c.874A>G (p.Met292Val)	single nucleotide variant	not provided [RCV001837161]	Chr16:75634214 [GRCh38] Chr16:75668112 [GRCh37] Chr16:16q23.1	uncertain significance
NC_000016.9:g.(?_75327850)_(75664426_?)dup	duplication	Joubert syndrome 20 [RCV001875411]	Chr16:75327850..75664426 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1424+6A>T	single nucleotide variant	not provided [RCV002237036]	Chr16:75630417 [GRCh38] Chr16:75664315 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1313G>A (p.Arg438Gln)	single nucleotide variant	not provided [RCV002237038]	Chr16:75631193 [GRCh38] Chr16:75665091 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1013G>C (p.Cys338Ser)	single nucleotide variant	not provided [RCV002237045]	Chr16:75631758 [GRCh38] Chr16:75665656 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.951A>C (p.Glu317Asp)	single nucleotide variant	not provided [RCV002237046]	Chr16:75631820 [GRCh38] Chr16:75665718 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.916-11GTT[2]	microsatellite	not provided [RCV002237048]	Chr16:75631858..75631860 [GRCh38] Chr16:75665756..75665758 [GRCh37] Chr16:16q23.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005548.3(KARS1):c.588G>A (p.Leu196=)	single nucleotide variant	not provided [RCV002237055]	Chr16:75635993 [GRCh38] Chr16:75669891 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.363G>A (p.Leu121=)	single nucleotide variant	not provided [RCV002237059]	Chr16:75640209 [GRCh38] Chr16:75674107 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.63-2657A>T	single nucleotide variant	not provided [RCV002237072]\|not specified [RCV004045115]	Chr16:75644380 [GRCh38] Chr16:75678278 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.63-2661C>G	single nucleotide variant	not provided [RCV002237073]	Chr16:75644384 [GRCh38] Chr16:75678282 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1270G>C (p.Asp424His)	single nucleotide variant	not provided [RCV002237039]	Chr16:75631236 [GRCh38] Chr16:75665134 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1078+12TC[5]	microsatellite	not provided [RCV002237043]	Chr16:75631673..75631674 [GRCh38] Chr16:75665571..75665572 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.940C>T (p.Arg314Trp)	single nucleotide variant	not provided [RCV002237047]	Chr16:75631831 [GRCh38] Chr16:75665729 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.773_774insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGGGAGAGGGAGACCGAGAGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGAGAGGCAGGGGCAGGGGCAGGGGCAGGGCACATATATAAGAAGTTTCTT (p.Leu258delinsPhePhePhePhePhePhePheXaaXaaXaaXaaGlyArgGlyArgProArgGlyArgGlyGluArgGlyGluGlyArgGlyGluArgGlyGluGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgAlaHisIleTer)	insertion	not provided [RCV002237052]	Chr16:75635701..75635702 [GRCh38] Chr16:75669599..75669600 [GRCh37] Chr16:16q23.1	pathogenic
NM_005548.3(KARS1):c.343C>T (p.Leu115=)	single nucleotide variant	not provided [RCV002237060]	Chr16:75640229 [GRCh38] Chr16:75674127 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.181G>A (p.Asp61Asn)	single nucleotide variant	not provided [RCV002237065]	Chr16:75641605 [GRCh38] Chr16:75675503 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.85G>C (p.Ala29Pro)	single nucleotide variant	KARS1-related disorder [RCV004529106]\|Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV003223432]\|not provided [RCV002237067]	Chr16:75641701 [GRCh38] Chr16:75675599 [GRCh37] Chr16:16q23.1	pathogenic\|likely pathogenic\|uncertain significance
NM_005548.3(KARS1):c.186T>C (p.Asn62=)	single nucleotide variant	not provided [RCV002237064]	Chr16:75641600 [GRCh38] Chr16:75675498 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.76C>T (p.Arg26Cys)	single nucleotide variant	not provided [RCV002237068]\|not specified [RCV004045113]	Chr16:75641710 [GRCh38] Chr16:75675608 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.63-12T>C	single nucleotide variant	not provided [RCV002237069]	Chr16:75641735 [GRCh38] Chr16:75675633 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1356G>A (p.Leu452=)	single nucleotide variant	not provided [RCV002237037]	Chr16:75630491 [GRCh38] Chr16:75664389 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1207G>A (p.Ala403Thr)	single nucleotide variant	not provided [RCV002237040]	Chr16:75631461 [GRCh38] Chr16:75665359 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1078+20A>C	single nucleotide variant	not provided [RCV002237044]	Chr16:75631673 [GRCh38] Chr16:75665571 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1696-2A>C	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 89 [RCV002204554]	Chr16:75627995 [GRCh38] Chr16:75661893 [GRCh37] Chr16:16q23.1	pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	copy number gain	not provided [RCV002221458]	Chr16:46503968..90155062 [GRCh37] Chr16:16q11.2-24.3	pathogenic
NM_005548.3(KARS1):c.1520G>A (p.Arg507Gln)	single nucleotide variant	Charcot-Marie-Tooth disease recessive intermediate B [RCV002221641]\|not provided [RCV002243452]\|not specified [RCV004040017]	Chr16:75629446 [GRCh38] Chr16:75663344 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.250A>G (p.Ile84Val)	single nucleotide variant	not provided [RCV003118049]\|not specified [RCV004244604]	Chr16:75640322 [GRCh38] Chr16:75674220 [GRCh37] Chr16:16q23.1	likely benign\|uncertain significance
NM_005548.3(KARS1):c.1425-5C>T	single nucleotide variant	not provided [RCV003120226]	Chr16:75629546 [GRCh38] Chr16:75663444 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.131G>A (p.Ser44Asn)	single nucleotide variant	not provided [RCV004784432]	Chr16:75641655 [GRCh38] Chr16:75675553 [GRCh37] Chr16:16q23.1	uncertain significance
NC_000016.9:g.(?_75589682)_(75690509_?)dup	duplication	Joubert syndrome 20 [RCV003122449]	Chr16:75589682..75690509 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1067A>G (p.Lys356Arg)	single nucleotide variant	not provided [RCV004795182]	Chr16:75631704 [GRCh38] Chr16:75665602 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1606G>T (p.Ala536Ser)	single nucleotide variant	not provided [RCV004795184]	Chr16:75628658 [GRCh38] Chr16:75662556 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1525C>T (p.Arg509Trp)	single nucleotide variant	not provided [RCV002237034]	Chr16:75629441 [GRCh38] Chr16:75663339 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1097C>T (p.Thr366Ile)	single nucleotide variant	not provided [RCV002237042]	Chr16:75631571 [GRCh38] Chr16:75665469 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.743C>G (p.Ser248Cys)	single nucleotide variant	not provided [RCV002237053]	Chr16:75635732 [GRCh38] Chr16:75669630 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.563C>T (p.Pro188Leu)	single nucleotide variant	not provided [RCV002237056]	Chr16:75636018 [GRCh38] Chr16:75669916 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.63-2623G>A	single nucleotide variant	not provided [RCV002237071]\|not specified [RCV004045114]	Chr16:75644346 [GRCh38] Chr16:75678244 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1181T>A (p.Ile394Asn)	single nucleotide variant	Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV002226922]	Chr16:75631487 [GRCh38] Chr16:75665385 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.256C>T (p.Gln86Ter)	single nucleotide variant	Global developmental delay [RCV002226985]	Chr16:75640316 [GRCh38] Chr16:75674214 [GRCh37] Chr16:16q23.1	likely pathogenic
NM_005548.3(KARS1):c.1357G>C (p.Glu453Gln)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 89 [RCV002251047]	Chr16:75630490 [GRCh38] Chr16:75664388 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1513C>G (p.Pro505Ala)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 89 [RCV002251054]	Chr16:75629453 [GRCh38] Chr16:75663351 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1115C>T (p.Thr372Ile)	single nucleotide variant	not provided [RCV002237041]	Chr16:75631553 [GRCh38] Chr16:75665451 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.225A>G (p.Gln75=)	single nucleotide variant	not provided [RCV002237062]	Chr16:75640347 [GRCh38] Chr16:75674245 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.123A>G (p.Lys41=)	single nucleotide variant	not provided [RCV002237066]	Chr16:75641663 [GRCh38] Chr16:75675561 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.63-2583C>T	single nucleotide variant	not provided [RCV002237070]	Chr16:75644306 [GRCh38] Chr16:75678204 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.63-2662G>A	single nucleotide variant	not provided [RCV002237074]	Chr16:75644385 [GRCh38] Chr16:75678283 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1734G>C (p.Lys578Asn)	single nucleotide variant	not provided [RCV002273465]	Chr16:75627955 [GRCh38] Chr16:75661853 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.450G>C (p.Glu150Asp)	single nucleotide variant	not provided [RCV002267468]\|not specified [RCV004047466]	Chr16:75636486 [GRCh38] Chr16:75670384 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1225C>G (p.Pro409Ala)	single nucleotide variant	not provided [RCV002292164]	Chr16:75631443 [GRCh38] Chr16:75665341 [GRCh37] Chr16:16q23.1	uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	copy number gain	Syndromic anorectal malformation [RCV002286607]	Chr16:71641395..90161959 [GRCh37] Chr16:16q22.2-24.3	likely pathogenic
NM_005548.3(KARS1):c.63-2739G>A	single nucleotide variant	not provided [RCV002285632]	Chr16:75644462 [GRCh38] Chr16:75678360 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1585A>G (p.Ile529Val)	single nucleotide variant	not provided [RCV002267342]\|not specified [RCV004047459]	Chr16:75628679 [GRCh38] Chr16:75662577 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.299A>G (p.His100Arg)	single nucleotide variant	not specified [RCV004307892]	Chr16:75640273 [GRCh38] Chr16:75674171 [GRCh37] Chr16:16q23.1	uncertain significance
GRCh37/hg19 16q22.3-23.1(chr16:73673334-76105189)x4	copy number gain	not provided [RCV002475008]	Chr16:73673334..76105189 [GRCh37] Chr16:16q22.3-23.1	uncertain significance
GRCh37/hg19 16q22.3-23.1(chr16:73673334-78137887)x1	copy number loss	not provided [RCV002475774]	Chr16:73673334..78137887 [GRCh37] Chr16:16q22.3-23.1	uncertain significance
NM_005548.3(KARS1):c.1592A>G (p.Glu531Gly)	single nucleotide variant	not provided [RCV002462582]	Chr16:75628672 [GRCh38] Chr16:75662570 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.281C>T (p.Pro94Leu)	single nucleotide variant	not provided [RCV002991354]	Chr16:75640291 [GRCh38] Chr16:75674189 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1649G>A (p.Gly550Asp)	single nucleotide variant	not provided [RCV002686156]	Chr16:75628615 [GRCh38] Chr16:75662513 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1338+12C>T	single nucleotide variant	not provided [RCV002862684]	Chr16:75631156 [GRCh38] Chr16:75665054 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.986T>C (p.Leu329Ser)	single nucleotide variant	not provided [RCV003013564]	Chr16:75631785 [GRCh38] Chr16:75665683 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.90G>A (p.Glu30=)	single nucleotide variant	not provided [RCV002971685]	Chr16:75641696 [GRCh38] Chr16:75675594 [GRCh37] Chr16:16q23.1	likely benign
GRCh37/hg19 16q22.3-23.1(chr16:73858079-75855162)x1	copy number loss	not provided [RCV002475848]	Chr16:73858079..75855162 [GRCh37] Chr16:16q22.3-23.1	uncertain significance
NM_005548.3(KARS1):c.1542A>G (p.Glu514=)	single nucleotide variant	not provided [RCV002755746]	Chr16:75629424 [GRCh38] Chr16:75663322 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.239G>C (p.Arg80Pro)	single nucleotide variant	not provided [RCV002842846]	Chr16:75640333 [GRCh38] Chr16:75674231 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1745_1746delinsAG (p.Val582Glu)	indel	not provided [RCV002618932]	Chr16:75627943..75627944 [GRCh38] Chr16:75661841..75661842 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1115C>G (p.Thr372Ser)	single nucleotide variant	not provided [RCV002755778]	Chr16:75631553 [GRCh38] Chr16:75665451 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.66G>A (p.Glu22=)	single nucleotide variant	not provided [RCV002681966]	Chr16:75641720 [GRCh38] Chr16:75675618 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1679A>G (p.Asp560Gly)	single nucleotide variant	not provided [RCV002842845]	Chr16:75628585 [GRCh38] Chr16:75662483 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1338+16C>G	single nucleotide variant	not provided [RCV003022063]	Chr16:75631152 [GRCh38] Chr16:75665050 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1726G>A (p.Glu576Lys)	single nucleotide variant	not provided [RCV002622855]	Chr16:75627963 [GRCh38] Chr16:75661861 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.439C>A (p.Leu147Ile)	single nucleotide variant	not provided [RCV003022064]	Chr16:75636497 [GRCh38] Chr16:75670395 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.346C>T (p.Gln116Ter)	single nucleotide variant	not provided [RCV003055524]	Chr16:75640226 [GRCh38] Chr16:75674124 [GRCh37] Chr16:16q23.1	pathogenic
NM_005548.3(KARS1):c.600G>C (p.Pro200=)	single nucleotide variant	not provided [RCV002620722]	Chr16:75635981 [GRCh38] Chr16:75669879 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.498A>G (p.Glu166=)	single nucleotide variant	KARS1-related disorder [RCV004545351]\|not provided [RCV002590772]	Chr16:75636083 [GRCh38] Chr16:75669981 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1253-3C>T	single nucleotide variant	not provided [RCV002781377]	Chr16:75631256 [GRCh38] Chr16:75665154 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.916-5G>C	single nucleotide variant	not provided [RCV003036443]	Chr16:75631860 [GRCh38] Chr16:75665758 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1080G>C (p.Gly360=)	single nucleotide variant	not provided [RCV002569722]	Chr16:75631588 [GRCh38] Chr16:75665486 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1480G>C (p.Glu494Gln)	single nucleotide variant	not provided [RCV003054398]	Chr16:75629486 [GRCh38] Chr16:75663384 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.669+17T>C	single nucleotide variant	not provided [RCV003038307]	Chr16:75635895 [GRCh38] Chr16:75669793 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.63-2541C>A	single nucleotide variant	not provided [RCV002796751]	Chr16:75644264 [GRCh38] Chr16:75678162 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.669+10_669+23del	deletion	not provided [RCV002621564]	Chr16:75635889..75635902 [GRCh38] Chr16:75669787..75669800 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.483-17A>T	single nucleotide variant	not provided [RCV002760254]	Chr16:75636115 [GRCh38] Chr16:75670013 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.115A>G (p.Lys39Glu)	single nucleotide variant	not provided [RCV002666827]	Chr16:75641671 [GRCh38] Chr16:75675569 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1170C>A (p.Pro390=)	single nucleotide variant	not provided [RCV002626565]	Chr16:75631498 [GRCh38] Chr16:75665396 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1552-16C>G	single nucleotide variant	not provided [RCV002597235]	Chr16:75628728 [GRCh38] Chr16:75662626 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1252+4A>C	single nucleotide variant	not provided [RCV002663375]	Chr16:75631412 [GRCh38] Chr16:75665310 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.63-2700G>C	single nucleotide variant	not provided [RCV003006206]	Chr16:75644423 [GRCh38] Chr16:75678321 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1184A>T (p.Asn395Ile)	single nucleotide variant	not provided [RCV002917539]	Chr16:75631484 [GRCh38] Chr16:75665382 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1338+19C>G	single nucleotide variant	not provided [RCV002625676]	Chr16:75631149 [GRCh38] Chr16:75665047 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.384G>A (p.Val128=)	single nucleotide variant	not provided [RCV002623337]	Chr16:75640188 [GRCh38] Chr16:75674086 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.170A>C (p.Asn57Thr)	single nucleotide variant	not provided [RCV003042202]	Chr16:75641616 [GRCh38] Chr16:75675514 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1031A>G (p.Tyr344Cys)	single nucleotide variant	not provided [RCV002875969]	Chr16:75631740 [GRCh38] Chr16:75665638 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1382T>G (p.Phe461Cys)	single nucleotide variant	not provided [RCV003058508]	Chr16:75630465 [GRCh38] Chr16:75664363 [GRCh37] Chr16:16q23.1	likely pathogenic\|uncertain significance
NM_005548.3(KARS1):c.388+20A>G	single nucleotide variant	not provided [RCV002626705]	Chr16:75640164 [GRCh38] Chr16:75674062 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1404A>T (p.Ile468=)	single nucleotide variant	not provided [RCV002700933]	Chr16:75630443 [GRCh38] Chr16:75664341 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.692A>T (p.Tyr231Phe)	single nucleotide variant	not provided [RCV002801606]	Chr16:75635783 [GRCh38] Chr16:75669681 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1044C>G (p.His348Gln)	single nucleotide variant	not provided [RCV002631726]	Chr16:75631727 [GRCh38] Chr16:75665625 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.482+15C>T	single nucleotide variant	not provided [RCV003044441]	Chr16:75636439 [GRCh38] Chr16:75670337 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.572C>A (p.Thr191Asn)	single nucleotide variant	not provided [RCV002810995]	Chr16:75636009 [GRCh38] Chr16:75669907 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1609C>T (p.Leu537=)	single nucleotide variant	not provided [RCV002806245]	Chr16:75628655 [GRCh38] Chr16:75662553 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.463C>G (p.Gln155Glu)	single nucleotide variant	not provided [RCV002671762]	Chr16:75636473 [GRCh38] Chr16:75670371 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1339-6A>C	single nucleotide variant	not provided [RCV002630539]	Chr16:75630514 [GRCh38] Chr16:75664412 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.815A>C (p.Asn272Thr)	single nucleotide variant	not provided [RCV002937938]	Chr16:75634273 [GRCh38] Chr16:75668171 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.63-2643G>A	single nucleotide variant	not provided [RCV002670815]	Chr16:75644366 [GRCh38] Chr16:75678264 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.181G>C (p.Asp61His)	single nucleotide variant	not provided [RCV002577892]	Chr16:75641605 [GRCh38] Chr16:75675503 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.806C>A (p.Pro269His)	single nucleotide variant	not provided [RCV003029812]	Chr16:75634282 [GRCh38] Chr16:75668180 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.402C>G (p.Ala134=)	single nucleotide variant	not provided [RCV002810407]	Chr16:75636534 [GRCh38] Chr16:75670432 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.696G>C (p.Leu232Phe)	single nucleotide variant	not provided [RCV002810994]	Chr16:75635779 [GRCh38] Chr16:75669677 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1696-11A>G	single nucleotide variant	not provided [RCV002922128]	Chr16:75628004 [GRCh38] Chr16:75661902 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1551+14C>G	single nucleotide variant	not provided [RCV003028820]	Chr16:75629401 [GRCh38] Chr16:75663299 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1486T>G (p.Cys496Gly)	single nucleotide variant	not provided [RCV002671215]	Chr16:75629480 [GRCh38] Chr16:75663378 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1753A>T (p.Thr585Ser)	single nucleotide variant	not provided [RCV002832815]	Chr16:75627936 [GRCh38] Chr16:75661834 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1425-3T>C	single nucleotide variant	not provided [RCV002628012]	Chr16:75629544 [GRCh38] Chr16:75663442 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.241A>C (p.Ser81Arg)	single nucleotide variant	not provided [RCV002635066]	Chr16:75640331 [GRCh38] Chr16:75674229 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.770T>G (p.Phe257Cys)	single nucleotide variant	not provided [RCV002943251]	Chr16:75635705 [GRCh38] Chr16:75669603 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1339-17T>C	single nucleotide variant	not provided [RCV002604928]	Chr16:75630525 [GRCh38] Chr16:75664423 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.916-5G>A	single nucleotide variant	not provided [RCV002606151]	Chr16:75631860 [GRCh38] Chr16:75665758 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.162T>C (p.Ala54=)	single nucleotide variant	not provided [RCV002582284]	Chr16:75641624 [GRCh38] Chr16:75675522 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.766A>G (p.Ser256Gly)	single nucleotide variant	not provided [RCV002583423]	Chr16:75635709 [GRCh38] Chr16:75669607 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1573G>C (p.Glu525Gln)	single nucleotide variant	not provided [RCV002609404]	Chr16:75628691 [GRCh38] Chr16:75662589 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.69G>A (p.Leu23=)	single nucleotide variant	not provided [RCV002605817]	Chr16:75641717 [GRCh38] Chr16:75675615 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1752C>G (p.Thr584=)	single nucleotide variant	KARS1-related disorder [RCV004534134]\|not provided [RCV002589622]	Chr16:75627937 [GRCh38] Chr16:75661835 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.482+7C>T	single nucleotide variant	KARS1-related disorder [RCV004738586]\|not provided [RCV002583766]	Chr16:75636447 [GRCh38] Chr16:75670345 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.331A>C (p.Lys111Gln)	single nucleotide variant	not provided [RCV002587260]	Chr16:75640241 [GRCh38] Chr16:75674139 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1080G>T (p.Gly360=)	single nucleotide variant	not provided [RCV002634498]	Chr16:75631588 [GRCh38] Chr16:75665486 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1716C>T (p.Ala572=)	single nucleotide variant	not provided [RCV002582623]	Chr16:75627973 [GRCh38] Chr16:75661871 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.496GAA[2] (p.Glu168del)	microsatellite	not provided [RCV002943875]\|not specified [RCV004068118]	Chr16:75636077..75636079 [GRCh38] Chr16:75669975..75669977 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1304C>G (p.Pro435Arg)	single nucleotide variant	not provided [RCV002658013]	Chr16:75631202 [GRCh38] Chr16:75665100 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.369C>T (p.Asp123=)	single nucleotide variant	not provided [RCV002725506]	Chr16:75640203 [GRCh38] Chr16:75674101 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1425-10C>T	single nucleotide variant	not provided [RCV003070306]	Chr16:75629551 [GRCh38] Chr16:75663449 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.63-2704T>C	single nucleotide variant	not provided [RCV003149539]	Chr16:75644427 [GRCh38] Chr16:75678325 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1514C>G (p.Pro505Arg)	single nucleotide variant	Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV003223482]\|not provided [RCV004801330]	Chr16:75629452 [GRCh38] Chr16:75663350 [GRCh37] Chr16:16q23.1	likely pathogenic
NM_005548.3(KARS1):c.1349A>C (p.Glu450Ala)	single nucleotide variant	not specified [RCV004251236]	Chr16:75630498 [GRCh38] Chr16:75664396 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1051A>G (p.Met351Val)	single nucleotide variant	not provided [RCV003133777]	Chr16:75631720 [GRCh38] Chr16:75665618 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1326G>C (p.Arg442Ser)	single nucleotide variant	not provided [RCV003224021]	Chr16:75631180 [GRCh38] Chr16:75665078 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.2T>A (p.Met1Lys)	single nucleotide variant	not provided [RCV003229207]	Chr16:75647638 [GRCh38] Chr16:75681536 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1519C>T (p.Arg507Trp)	single nucleotide variant	not specified [RCV004248844]	Chr16:75629447 [GRCh38] Chr16:75663345 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1040A>G (p.Tyr347Cys)	single nucleotide variant	not provided [RCV003133779]	Chr16:75631731 [GRCh38] Chr16:75665629 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1367G>A (p.Cys456Tyr)	single nucleotide variant	not provided [RCV003323172]	Chr16:75630480 [GRCh38] Chr16:75664378 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1601G>A (p.Cys534Tyr)	single nucleotide variant	Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV003323262]\|not provided [RCV003443201]	Chr16:75628663 [GRCh38] Chr16:75662561 [GRCh37] Chr16:16q23.1	likely pathogenic\|uncertain significance
NM_005548.3(KARS1):c.1328T>C (p.Leu443Pro)	single nucleotide variant	Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV003323263]	Chr16:75631178 [GRCh38] Chr16:75665076 [GRCh37] Chr16:16q23.1	likely pathogenic
NM_005548.3(KARS1):c.1076C>T (p.Ser359Leu)	single nucleotide variant	Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV003323264]	Chr16:75631695 [GRCh38] Chr16:75665593 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1540G>T (p.Glu514Ter)	single nucleotide variant	not provided [RCV003319633]	Chr16:75629426 [GRCh38] Chr16:75663324 [GRCh37] Chr16:16q23.1	likely pathogenic
NM_005548.3(KARS1):c.1078+5C>G	single nucleotide variant	not provided [RCV003328519]	Chr16:75631688 [GRCh38] Chr16:75665586 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.670-1G>A	single nucleotide variant	not provided [RCV003328520]	Chr16:75635806 [GRCh38] Chr16:75669704 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1671T>C (p.Phe557=)	single nucleotide variant	not provided [RCV003334192]	Chr16:75628593 [GRCh38] Chr16:75662491 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1615T>C (p.Tyr539His)	single nucleotide variant	not specified [RCV004357308]	Chr16:75628649 [GRCh38] Chr16:75662547 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1152_1177dup (p.Arg393fs)	duplication	KARS1-related disorder [RCV004527905]	Chr16:75631490..75631491 [GRCh38] Chr16:75665388..75665389 [GRCh37] Chr16:16q23.1	likely pathogenic
NM_005548.3(KARS1):c.1271A>G (p.Asp424Gly)	single nucleotide variant	not provided [RCV003482483]	Chr16:75631235 [GRCh38] Chr16:75665133 [GRCh37] Chr16:16q23.1	uncertain significance
GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	copy number gain	not provided [RCV003485121]	Chr16:70607067..81561138 [GRCh37] Chr16:16q22.1-23.2	pathogenic
NM_005548.3(KARS1):c.122_125del (p.Lys41fs)	deletion	KARS1-related disorder [RCV004536823]\|not provided [RCV005062977]	Chr16:75641661..75641664 [GRCh38] Chr16:75675559..75675562 [GRCh37] Chr16:16q23.1	pathogenic
NM_005548.3(KARS1):c.849C>T (p.Phe283=)	single nucleotide variant	not provided [RCV003429129]	Chr16:75634239 [GRCh38] Chr16:75668137 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.63-2700G>T	single nucleotide variant	not provided [RCV003411427]\|not specified [RCV004364543]	Chr16:75644423 [GRCh38] Chr16:75678321 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1490A>G (p.Asn497Ser)	single nucleotide variant	KARS1-related disorder [RCV004531704]	Chr16:75629476 [GRCh38] Chr16:75663374 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.238C>T (p.Arg80Cys)	single nucleotide variant	not provided [RCV003441468]	Chr16:75640334 [GRCh38] Chr16:75674232 [GRCh37] Chr16:16q23.1	likely pathogenic
NM_005548.3(KARS1):c.953T>C (p.Ile318Thr)	single nucleotide variant	Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV003459156]\|not specified [RCV004364764]	Chr16:75631818 [GRCh38] Chr16:75665716 [GRCh37] Chr16:16q23.1	likely pathogenic\|uncertain significance
NM_005548.3(KARS1):c.1173C>T (p.Phe391=)	single nucleotide variant	not provided [RCV003829993]	Chr16:75631495 [GRCh38] Chr16:75665393 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1611G>C (p.Leu537=)	single nucleotide variant	not provided [RCV003827397]	Chr16:75628653 [GRCh38] Chr16:75662551 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.936C>T (p.Ile312=)	single nucleotide variant	not provided [RCV003663262]	Chr16:75631835 [GRCh38] Chr16:75665733 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1695+12C>A	single nucleotide variant	not provided [RCV003692991]	Chr16:75628557 [GRCh38] Chr16:75662455 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1711C>T (p.Pro571Ser)	single nucleotide variant	not provided [RCV003573453]	Chr16:75627978 [GRCh38] Chr16:75661876 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1420A>T (p.Lys474Ter)	single nucleotide variant	not provided [RCV003697967]	Chr16:75630427 [GRCh38] Chr16:75664325 [GRCh37] Chr16:16q23.1	pathogenic
NM_005548.3(KARS1):c.102A>G (p.Ala34=)	single nucleotide variant	not provided [RCV003665664]	Chr16:75641684 [GRCh38] Chr16:75675582 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.672A>G (p.Glu224=)	single nucleotide variant	not provided [RCV003832617]	Chr16:75635803 [GRCh38] Chr16:75669701 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.336T>C (p.Tyr112=)	single nucleotide variant	not provided [RCV003833793]	Chr16:75640236 [GRCh38] Chr16:75674134 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.63-13A>G	single nucleotide variant	not provided [RCV003561702]	Chr16:75641736 [GRCh38] Chr16:75675634 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.210C>T (p.Ser70=)	single nucleotide variant	KARS1-related disorder [RCV004539163]\|not provided [RCV003839743]	Chr16:75641576 [GRCh38] Chr16:75675474 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1695+13C>G	single nucleotide variant	not provided [RCV003811930]	Chr16:75628556 [GRCh38] Chr16:75662454 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1166C>T (p.Pro389Leu)	single nucleotide variant	not provided [RCV003580807]	Chr16:75631502 [GRCh38] Chr16:75665400 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.916-17C>T	single nucleotide variant	not provided [RCV003667921]	Chr16:75631872 [GRCh38] Chr16:75665770 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.604G>A (p.Glu202Lys)	single nucleotide variant	not provided [RCV003701302]	Chr16:75635977 [GRCh38] Chr16:75669875 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.108G>A (p.Lys36=)	single nucleotide variant	not provided [RCV003724931]	Chr16:75641678 [GRCh38] Chr16:75675576 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.67C>T (p.Leu23=)	single nucleotide variant	not provided [RCV003842533]	Chr16:75641719 [GRCh38] Chr16:75675617 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1253-18T>C	single nucleotide variant	not provided [RCV003712292]	Chr16:75631271 [GRCh38] Chr16:75665169 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.63-2599C>G	single nucleotide variant	not provided [RCV003863705]	Chr16:75644322 [GRCh38] Chr16:75678220 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.613C>G (p.Leu205Val)	single nucleotide variant	not provided [RCV003845512]	Chr16:75635968 [GRCh38] Chr16:75669866 [GRCh37] Chr16:16q23.1	pathogenic\|likely pathogenic
NM_005548.3(KARS1):c.417G>T (p.Gly139=)	single nucleotide variant	not provided [RCV003554350]	Chr16:75636519 [GRCh38] Chr16:75670417 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.309C>G (p.Ile103Met)	single nucleotide variant	not provided [RCV003818892]	Chr16:75640263 [GRCh38] Chr16:75674161 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1626C>T (p.Pro542=)	single nucleotide variant	not provided [RCV003842745]	Chr16:75628638 [GRCh38] Chr16:75662536 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1494G>A (p.Ala498=)	single nucleotide variant	KARS1-related disorder [RCV004542315]\|not provided [RCV003885729]	Chr16:75629472 [GRCh38] Chr16:75663370 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1552-14C>G	single nucleotide variant	not provided [RCV003564724]	Chr16:75628726 [GRCh38] Chr16:75662624 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.223-7T>A	single nucleotide variant	KARS1-related disorder [RCV004537006]	Chr16:75640356 [GRCh38] Chr16:75674254 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1590T>C (p.Asp530=)	single nucleotide variant	KARS1-related disorder [RCV004539503]	Chr16:75628674 [GRCh38] Chr16:75662572 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.63-2697G>A	single nucleotide variant	KARS1-related disorder [RCV004543953]	Chr16:75644420 [GRCh38] Chr16:75678318 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.336T>G (p.Tyr112Ter)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 89 [RCV004555374]	Chr16:75640236 [GRCh38] Chr16:75674134 [GRCh37] Chr16:16q23.1	pathogenic
NM_005548.3(KARS1):c.-10C>T	single nucleotide variant	KARS1-related disorder [RCV004537084]	Chr16:75647649 [GRCh38] Chr16:75681547 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.-4G>A	single nucleotide variant	KARS1-related disorder [RCV004532169]	Chr16:75647643 [GRCh38] Chr16:75681541 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1658G>A (p.Arg553Gln)	single nucleotide variant	KARS1-related disorder [RCV004532119]	Chr16:75628606 [GRCh38] Chr16:75662504 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1389T>C (p.Cys463=)	single nucleotide variant	KARS1-related disorder [RCV004540748]	Chr16:75630458 [GRCh38] Chr16:75664356 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1695+5G>T	single nucleotide variant	not specified [RCV004403605]	Chr16:75628564 [GRCh38] Chr16:75662462 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1A>G (p.Met1Val)	single nucleotide variant	not specified [RCV004403606]	Chr16:75647639 [GRCh38] Chr16:75681537 [GRCh37] Chr16:16q23.1	likely pathogenic
NM_005548.3(KARS1):c.193G>C (p.Gly65Arg)	single nucleotide variant	not specified [RCV004403607]	Chr16:75641593 [GRCh38] Chr16:75675491 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.221A>G (p.Asn74Ser)	single nucleotide variant	not specified [RCV004403608]	Chr16:75641565 [GRCh38] Chr16:75675463 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.269A>G (p.Asn90Ser)	single nucleotide variant	not specified [RCV004403609]	Chr16:75640303 [GRCh38] Chr16:75674201 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.35A>G (p.Asp12Gly)	single nucleotide variant	not specified [RCV004403610]	Chr16:75647605 [GRCh38] Chr16:75681503 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.370A>G (p.Ile124Val)	single nucleotide variant	not specified [RCV004403611]	Chr16:75640202 [GRCh38] Chr16:75674100 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.636G>A (p.Met212Ile)	single nucleotide variant	not specified [RCV004403612]	Chr16:75635945 [GRCh38] Chr16:75669843 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.658C>G (p.Leu220Val)	single nucleotide variant	not specified [RCV004403613]	Chr16:75635923 [GRCh38] Chr16:75669821 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.795+5G>A	single nucleotide variant	not specified [RCV004403614]	Chr16:75635675 [GRCh38] Chr16:75669573 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1486T>A (p.Cys496Ser)	single nucleotide variant	Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV004547224]	Chr16:75629480 [GRCh38] Chr16:75663378 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.920T>C (p.Leu307Pro)	single nucleotide variant	not specified [RCV004403595]	Chr16:75631851 [GRCh38] Chr16:75665749 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.944T>C (p.Val315Ala)	single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 89 [RCV004556879]\|not specified [RCV004403596]	Chr16:75631827 [GRCh38] Chr16:75665725 [GRCh37] Chr16:16q23.1	likely pathogenic\|uncertain significance
NM_005548.3(KARS1):c.63-2588A>G	single nucleotide variant	not specified [RCV004403597]	Chr16:75644311 [GRCh38] Chr16:75678209 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1109A>G (p.Lys370Arg)	single nucleotide variant	not specified [RCV004403598]	Chr16:75631559 [GRCh38] Chr16:75665457 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1373A>G (p.Asn458Ser)	single nucleotide variant	not specified [RCV004403599]	Chr16:75630474 [GRCh38] Chr16:75664372 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1490A>T (p.Asn497Ile)	single nucleotide variant	not specified [RCV004403601]	Chr16:75629476 [GRCh38] Chr16:75663374 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1551+5G>A	single nucleotide variant	not specified [RCV004403602]	Chr16:75629410 [GRCh38] Chr16:75663308 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.85G>A (p.Ala29Thr)	single nucleotide variant	not specified [RCV004403604]	Chr16:75641701 [GRCh38] Chr16:75675599 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.63-2692C>G	single nucleotide variant	not specified [RCV004635916]	Chr16:75644415 [GRCh38] Chr16:75678313 [GRCh37] Chr16:16q23.1	uncertain significance
NC_000016.9:g.(?_75678161)_(75690509_?)del	deletion	not provided [RCV004582887]	Chr16:75678161..75690509 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1368C>G (p.Cys456Trp)	single nucleotide variant	not specified [RCV004635913]	Chr16:75630479 [GRCh38] Chr16:75664377 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1346G>C (p.Gly449Ala)	single nucleotide variant	not provided [RCV004598914]	Chr16:75630501 [GRCh38] Chr16:75664399 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.745A>C (p.Lys249Gln)	single nucleotide variant	not specified [RCV004635914]	Chr16:75635730 [GRCh38] Chr16:75669628 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1173C>G (p.Phe391Leu)	single nucleotide variant	not specified [RCV004635915]	Chr16:75631495 [GRCh38] Chr16:75665393 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1062G>A (p.Thr354=)	single nucleotide variant	not provided [RCV004811869]	Chr16:75631709 [GRCh38] Chr16:75665607 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.454G>A (p.Val152Met)	single nucleotide variant	not provided [RCV004781045]	Chr16:75636482 [GRCh38] Chr16:75670380 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.264G>C (p.Lys88Asn)	single nucleotide variant	not provided [RCV004794199]	Chr16:75640308 [GRCh38] Chr16:75674206 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.874A>C (p.Met292Leu)	single nucleotide variant	not provided [RCV004798437]	Chr16:75634214 [GRCh38] Chr16:75668112 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1393C>T (p.His465Tyr)	single nucleotide variant	not provided [RCV004761407]		uncertain significance
NM_005548.3(KARS1):c.658C>T (p.Leu220Phe)	single nucleotide variant	not provided [RCV004762511]		uncertain significance
NM_005548.3(KARS1):c.731T>G (p.Phe244Cys)	single nucleotide variant	not provided [RCV004724232]	Chr16:75635744 [GRCh38] Chr16:75669642 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.533G>A (p.Arg178Gln)	single nucleotide variant	Leukoencephalopathy, progressive, infantile-onset, with or without deafness [RCV004764683]	Chr16:75636048 [GRCh38] Chr16:75669946 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.139C>G (p.Gln47Glu)	single nucleotide variant	not provided [RCV004772689]	Chr16:75641647 [GRCh38] Chr16:75675545 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.194G>A (p.Gly65Asp)	single nucleotide variant	not provided [RCV004767915]	Chr16:75641592 [GRCh38] Chr16:75675490 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1435A>G (p.Lys479Glu)	single nucleotide variant	not provided [RCV004761255]		uncertain significance
NM_005548.3(KARS1):c.697G>C (p.Asp233His)	single nucleotide variant	not provided [RCV004769126]	Chr16:75635778 [GRCh38] Chr16:75669676 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.280C>T (p.Pro94Ser)	single nucleotide variant	not provided [RCV004769127]	Chr16:75640292 [GRCh38] Chr16:75674190 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.364A>G (p.Thr122Ala)	single nucleotide variant	not provided [RCV004774230]	Chr16:75640208 [GRCh38] Chr16:75674106 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.749T>C (p.Ile250Thr)	single nucleotide variant	not provided [RCV004820555]	Chr16:75635726 [GRCh38] Chr16:75669624 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.708G>A (p.Leu236=)	single nucleotide variant	not provided [RCV004820416]	Chr16:75635767 [GRCh38] Chr16:75669665 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.63-4A>G	single nucleotide variant	not provided [RCV005004108]	Chr16:75641727 [GRCh38] Chr16:75675625 [GRCh37] Chr16:16q23.1	uncertain significance
GRCh37/hg19 16q21-24.1(chr16:62746020-84485022)x3	copy number gain	not provided [RCV004819314]	Chr16:62746020..84485022 [GRCh37] Chr16:16q21-24.1	pathogenic
NM_005548.3(KARS1):c.1422A>G (p.Lys474=)	single nucleotide variant	not provided [RCV005175344]	Chr16:75630425 [GRCh38] Chr16:75664323 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.63-2602T>A	single nucleotide variant	not specified [RCV004932234]	Chr16:75644325 [GRCh38] Chr16:75678223 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1186A>G (p.Met396Val)	single nucleotide variant	not specified [RCV004932235]	Chr16:75631482 [GRCh38] Chr16:75665380 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.215A>G (p.Asp72Gly)	single nucleotide variant	not specified [RCV004932237]	Chr16:75641571 [GRCh38] Chr16:75675469 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.937G>A (p.Asp313Asn)	single nucleotide variant	not specified [RCV004932238]	Chr16:75631834 [GRCh38] Chr16:75665732 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1051A>C (p.Met351Leu)	single nucleotide variant	not specified [RCV004932239]	Chr16:75631720 [GRCh38] Chr16:75665618 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1760C>A (p.Thr587Lys)	single nucleotide variant	not specified [RCV004932240]	Chr16:75627929 [GRCh38] Chr16:75661827 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.505T>A (p.Phe169Ile)	single nucleotide variant	not specified [RCV004932241]	Chr16:75636076 [GRCh38] Chr16:75669974 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1220A>T (p.Lys407Met)	single nucleotide variant	not specified [RCV004932242]	Chr16:75631448 [GRCh38] Chr16:75665346 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.63-2661C>T	single nucleotide variant	not provided [RCV005087447]	Chr16:75644384 [GRCh38] Chr16:75678282 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1388G>A (p.Cys463Tyr)	single nucleotide variant	not provided [RCV005054886]	Chr16:75630459 [GRCh38] Chr16:75664357 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1621C>G (p.Leu541Val)	single nucleotide variant	not specified [RCV004932243]	Chr16:75628643 [GRCh38] Chr16:75662541 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1557G>T (p.Lys519Asn)	single nucleotide variant	not specified [RCV004932244]	Chr16:75628707 [GRCh38] Chr16:75662605 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.155C>G (p.Thr52Ser)	single nucleotide variant	not specified [RCV005088624]	Chr16:75641631 [GRCh38] Chr16:75675529 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1694A>G (p.Lys565Arg)	single nucleotide variant	not specified [RCV005088626]	Chr16:75628570 [GRCh38] Chr16:75662468 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1551+14C>A	single nucleotide variant	not provided [RCV005117153]	Chr16:75629401 [GRCh38] Chr16:75663299 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.63-16T>C	single nucleotide variant	not provided [RCV005124733]	Chr16:75641739 [GRCh38] Chr16:75675637 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.388+13C>A	single nucleotide variant	not provided [RCV005071292]	Chr16:75640171 [GRCh38] Chr16:75674069 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.409G>C (p.Ala137Pro)	single nucleotide variant	not provided [RCV005143825]	Chr16:75636527 [GRCh38] Chr16:75670425 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.669+7G>A	single nucleotide variant	not provided [RCV005144320]	Chr16:75635905 [GRCh38] Chr16:75669803 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.855T>C (p.Thr285=)	single nucleotide variant	not provided [RCV005188483]	Chr16:75634233 [GRCh38] Chr16:75668131 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.188G>A (p.Gly63Asp)	single nucleotide variant	not provided [RCV005234348]	Chr16:75641598 [GRCh38] Chr16:75675496 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.63-2609G>C	single nucleotide variant	not provided [RCV005169410]	Chr16:75644332 [GRCh38] Chr16:75678230 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.1761A>G (p.Thr587=)	single nucleotide variant	not provided [RCV005080116]	Chr16:75627928 [GRCh38] Chr16:75661826 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1253-10del	deletion	not provided [RCV005194074]	Chr16:75631263 [GRCh38] Chr16:75665161 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.796-9C>A	single nucleotide variant	not provided [RCV005163127]	Chr16:75634301 [GRCh38] Chr16:75668199 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.916-18G>A	single nucleotide variant	not provided [RCV005080373]	Chr16:75631873 [GRCh38] Chr16:75665771 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.1227A>G (p.Pro409=)	single nucleotide variant	not provided [RCV005205124]	Chr16:75631441 [GRCh38] Chr16:75665339 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.669+16C>T	single nucleotide variant	not provided [RCV005068533]	Chr16:75635896 [GRCh38] Chr16:75669794 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.375C>G (p.Thr125=)	single nucleotide variant	not provided [RCV005108643]	Chr16:75640197 [GRCh38] Chr16:75674095 [GRCh37] Chr16:16q23.1	likely benign
NM_005548.3(KARS1):c.872A>G (p.Asp291Gly)	single nucleotide variant	not provided [RCV001755407]	Chr16:75634216 [GRCh38] Chr16:75668114 [GRCh37] Chr16:16q23.1	uncertain significance
NM_005548.3(KARS1):c.822C>G (p.Ile274Met)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000789994]\|not provided [RCV001514740]	Chr16:75634266 [GRCh38] Chr16:75668164 [GRCh37] Chr16:16q23.1	benign\|uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	1815
Count of miRNA genes:	753
Interacting mature miRNAs:	848
Transcripts:	ENST00000302445, ENST00000319410, ENST00000562875, ENST00000564578, ENST00000565738, ENST00000566249, ENST00000566560, ENST00000566772, ENST00000568378, ENST00000568682, ENST00000569298, ENST00000570215
Prediction methods:	Microtar, Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597104757	GWAS1200831_H	post-traumatic stress disorder symptom measurement QTL GWAS1200831 (human)		0.000003	post-traumatic stress disorder symptom measurement		16	75643084	75643085	Human
597322529	GWAS1418603_H	smoking initiation QTL GWAS1418603 (human)		4e-27	smoking initiation		16	75629208	75629209	Human

D16S2968

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	75,661,654 - 75,661,769	UniSTS	GRCh37
Build 36	16	74,219,155 - 74,219,270	RGD	NCBI36
Celera	16	59,956,001 - 59,956,116	RGD
Cytogenetic Map	16	q23.1	UniSTS
Cytogenetic Map	5	q35.1	UniSTS
HuRef	16	61,415,331 - 61,415,446	UniSTS
GeneMap99-GB4 RH Map	16	447.24	UniSTS
Whitehead-RH Map	16	321.4	UniSTS
NCBI RH Map	16	584.6	UniSTS

RH103951

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	75,682,201 - 75,682,376	UniSTS	GRCh37
Build 36	16	74,239,702 - 74,239,877	RGD	NCBI36
Celera	16	59,976,546 - 59,976,721	RGD
Cytogenetic Map	16	q23.1	UniSTS
HuRef	16	61,435,878 - 61,436,053	UniSTS
GeneMap99-GB4 RH Map	16	446.95	UniSTS

SHGC-61037

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	75,661,673 - 75,661,836	UniSTS	GRCh37
Build 36	16	74,219,174 - 74,219,337	RGD	NCBI36
Celera	16	59,956,020 - 59,956,183	RGD
Cytogenetic Map	16	q23.1	UniSTS
HuRef	16	61,415,350 - 61,415,513	UniSTS
GeneMap99-GB4 RH Map	16	448.85	UniSTS
NCBI RH Map	16	584.6	UniSTS

SHGC-61044

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	13	42,501,133 - 42,501,450	UniSTS	GRCh37
Build 36	13	41,399,133 - 41,399,450	RGD	NCBI36
Celera	13	23,558,806 - 23,559,123	RGD
Cytogenetic Map	13	q14.11	UniSTS
Cytogenetic Map	16	q23.1	UniSTS
HuRef	13	23,304,045 - 23,304,362	UniSTS
GeneMap99-GB4 RH Map	16	446.75	UniSTS
NCBI RH Map	16	584.6	UniSTS

MARC_13466-13467:1002299828:1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	75,665,110 - 75,665,677	UniSTS	GRCh37
GRCh37	13	42,500,707 - 42,501,010	UniSTS	GRCh37
Build 36	13	41,398,707 - 41,399,010	RGD	NCBI36
Celera	16	59,959,457 - 59,960,024	UniSTS
Celera	13	23,558,380 - 23,558,683	RGD
HuRef	16	61,418,787 - 61,419,354	UniSTS
HuRef	13	23,303,619 - 23,303,922	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1


RefSeq Transcripts	NG_028025	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001130089	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001378148	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_005548	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA503390	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC025287	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF285758	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK126584	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK309168	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315687	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC004132	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC013246	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM781594	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471114	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D31890	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D32053	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000302445 ⟹ ENSP00000303043

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	75,627,724 - 75,647,665 (-)	Ensembl

Ensembl Acc Id:

ENST00000319410 ⟹ ENSP00000325448

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	75,627,474 - 75,647,665 (-)	Ensembl

Ensembl Acc Id:

ENST00000562875 ⟹ ENSP00000456185

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	75,631,722 - 75,647,651 (-)	Ensembl

Ensembl Acc Id:

ENST00000564578 ⟹ ENSP00000455818

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	75,627,770 - 75,647,648 (-)	Ensembl

Ensembl Acc Id:

ENST00000565738

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	75,639,782 - 75,641,602 (-)	Ensembl

Ensembl Acc Id:

ENST00000566249 ⟹ ENSP00000456786

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	75,634,241 - 75,647,607 (-)	Ensembl

Ensembl Acc Id:

ENST00000566560

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	75,633,971 - 75,648,643 (-)	Ensembl

Ensembl Acc Id:

ENST00000566772 ⟹ ENSP00000455488

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	75,635,324 - 75,636,073 (-)	Ensembl

Ensembl Acc Id:

ENST00000568378 ⟹ ENSP00000454512

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	75,627,758 - 75,647,624 (-)	Ensembl

Ensembl Acc Id:

ENST00000568682 ⟹ ENSP00000462057

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	75,635,699 - 75,647,650 (-)	Ensembl

Ensembl Acc Id:

ENST00000569298

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	75,627,846 - 75,629,009 (-)	Ensembl

Ensembl Acc Id:

ENST00000570215 ⟹ ENSP00000458028

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	75,635,791 - 75,647,655 (-)	Ensembl

RefSeq Acc Id:

NM_001130089 ⟹ NP_001123561

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	75,627,724 - 75,647,665 (-)	NCBI
GRCh37	16	75,661,622 - 75,681,585 (-)	ENTREZGENE
HuRef	16	61,415,299 - 61,435,262 (-)	ENTREZGENE
CHM1_1	16	77,074,018 - 77,093,985 (-)	NCBI
T2T-CHM13v2.0	16	81,676,020 - 81,695,962 (-)	NCBI

Sequence:

show sequence

ACTTTTGGGTCGGGCCCTCCGGGAAGATGGCGGCCGTGCAGGCGGCCGAGGTGAAAGTGGATGGCAGCGAGCCGAAACTGAGCAAGAAGTGGTGGTAATCATTAGTTCCAGGGTGCTCTGCCATGTTG
ACGCAAGCTGCTGTAAGGCTTGTTAGGGGGTCCCTGCGCAAAACCTCCTGGGCAGAGTGGGGTCACAGGGAACTGCGACTGGGTCAACTTGCTCCTTTCACAGCGCCTCACAAGGACAAGTCATTTTC
TGATCAAAGAAGTGAGCTGAAGAGACGCCTGAAAGCTGAGAAGAAAGTAGCAGAGAAGGAGGCCAAACAGAAAGAGCTCAGTGAGAAACAGCTAAGCCAAGCCACTGCTGCTGCCACCAACCACACCA
CTGATAATGGTGTGGGTCCTGAGGAAGAGAGCGTGGACCCAAATCAATACTACAAAATCCGCAGTCAAGCAATTCATCAGCTGAAGGTCAATGGGGAAGACCCATACCCACACAAGTTCCATGTAGAC
ATCTCACTCACTGACTTCATCCAAAAATATAGTCACCTGCAGCCTGGGGATCACCTGACTGACATCACCTTAAAGGTGGCAGGTAGGATCCATGCCAAAAGAGCTTCTGGGGGAAAGCTCATCTTCTA
TGATCTTCGAGGAGAGGGGGTGAAGTTGCAAGTCATGGCCAATTCCAGAAATTATAAATCAGAAGAAGAATTTATTCATATTAATAACAAACTGCGTCGGGGAGACATAATTGGAGTTCAGGGGAATC
CTGGTAAAACCAAGAAGGGTGAGCTGAGCATCATTCCGTATGAGATCACACTGCTGTCTCCCTGTTTGCATATGTTACCTCATCTTCACTTTGGCCTCAAAGACAAGGAAACAAGGTATCGCCAGAGA
TACTTGGACTTGATCCTGAATGACTTTGTGAGGCAGAAATTTATCATCCGCTCTAAGATCATCACATATATAAGAAGTTTCTTAGATGAGCTGGGATTCCTAGAGATTGAAACTCCCATGATGAACAT
CATCCCAGGGGGAGCCGTGGCCAAGCCTTTCATCACTTATCACAACGAGCTGGACATGAACTTATATATGAGAATTGCTCCAGAACTCTATCATAAGATGCTTGTGGTTGGTGGCATCGACCGGGTTT
ATGAAATTGGACGCCAGTTCCGGAATGAGGGGATTGATTTGACGCACAATCCTGAGTTCACCACCTGTGAGTTCTACATGGCCTATGCAGACTATCACGATCTCATGGAAATCACGGAGAAGATGGTT
TCAGGGATGGTGAAGCATATTACAGGCAGTTACAAGGTCACCTACCACCCAGATGGCCCAGAGGGCCAAGCCTACGATGTTGACTTCACCCCACCCTTCCGGCGAATCAACATGGTAGAAGAGCTTGA
GAAAGCCCTGGGGATGAAGCTGCCAGAAACGAACCTCTTTGAAACTGAAGAAACTCGCAAAATTCTTGATGATATCTGTGTGGCAAAAGCTGTTGAATGCCCTCCACCTCGGACCACAGCCAGGCTCC
TTGACAAGCTTGTTGGGGAGTTCCTGGAAGTGACTTGCATCAATCCTACATTCATCTGTGATCACCCACAGATAATGAGCCCTTTGGCTAAATGGCACCGCTCTAAAGAGGGTCTGACTGAGCGCTTT
GAGCTGTTTGTCATGAAGAAAGAGATATGCAATGCGTATACTGAGCTGAATGATCCCATGCGGCAGCGGCAGCTTTTTGAAGAACAGGCCAAGGCCAAGGCTGCAGGTGATGATGAGGCCATGTTCAT
AGATGAAAACTTCTGTACTGCCCTGGAATATGGGCTGCCCCCCACAGCTGGCTGGGGCATGGGCATTGATCGAGTCGCCATGTTTCTCACGGACTCCAACAACATCAAGGAAGTACTTCTGTTTCCTG
CCATGAAACCCGAAGACAAGAAGGAGAATGTAGCAACCACTGATACACTGGAAAGCACAACAGTTGGCACTTCTGTCTAGAAAATAATAATTGCAAGTTGTATAACTCAGGCGTCTTTGCATTTCTGC
GAAAGATCAAGGTCTGCAAGGGAATTCTTGTGTGCTGCTTTCCATTTGACACCGCAGTTCTGTTCAGCCATCAGAAGAGAGACAAGGAATTAAAAATTTCTTTTTAATCCTGTTACCAAATAA

hide sequence

RefSeq Acc Id:

NM_001378148 ⟹ NP_001365077

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	75,627,724 - 75,647,665 (-)	NCBI
T2T-CHM13v2.0	16	81,676,020 - 81,695,962 (-)	NCBI

Sequence:

show sequence

ACTTTTGGGTCGGGCCCTCCGGGAAGATGGCGGCCGTGCAGGCGGCCGAGGTGAAAGTGGATGGCAGCGAGCCGAAACTGAGCAAGAAGTGAGTGTCGCTGCGAGTCTTTAAAGCCTTTGCGGTAGGA
GAGTCTGGGCTGGGAAGCGCCGCGAGGTTCCCACCAAGGCTGCTGTGCCGGGGCCTTCTTGCCGGCTCTCGTGGTGAGCTGAAGAGACGCCTGAAAGCTGAGAAGAAAGTAGCAGAGAAGGAGGCCAA
ACAGAAAGAGCTCAGTGAGAAACAGCTAAGCCAAGCCACTGCTGCTGCCACCAACCACACCACTGATAATGGTGTGGGTCCTGAGGAAGAGAGCGTGGACCCAAATCAATACTACAAAATCCGCAGTC
AAGCAATTCATCAGCTGAAGGTCAATGGGGAAGACCCATACCCACACAAGTTCCATGTAGACATCTCACTCACTGACTTCATCCAAAAATATAGTCACCTGCAGCCTGGGGATCACCTGACTGACATC
ACCTTAAAGGTGGCAGGTAGGATCCATGCCAAAAGAGCTTCTGGGGGAAAGCTCATCTTCTATGATCTTCGAGGAGAGGGGGTGAAGTTGCAAGTCATGGCCAATTCCAGAAATTATAAATCAGAAGA
AGAATTTATTCATATTAATAACAAACTGCGTCGGGGAGACATAATTGGAGTTCAGGGGAATCCTGGTAAAACCAAGAAGGGTGAGCTGAGCATCATTCCGTATGAGATCACACTGCTGTCTCCCTGTT
TGCATATGTTACCTCATCTTCACTTTGGCCTCAAAGACAAGGAAACAAGGTATCGCCAGAGATACTTGGACTTGATCCTGAATGACTTTGTGAGGCAGAAATTTATCATCCGCTCTAAGATCATCACA
TATATAAGAAGTTTCTTAGATGAGCTGGGATTCCTAGAGATTGAAACTCCCATGATGAACATCATCCCAGGGGGAGCCGTGGCCAAGCCTTTCATCACTTATCACAACGAGCTGGACATGAACTTATA
TATGAGAATTGCTCCAGAACTCTATCATAAGATGCTTGTGGTTGGTGGCATCGACCGGGTTTATGAAATTGGACGCCAGTTCCGGAATGAGGGGATTGATTTGACGCACAATCCTGAGTTCACCACCT
GTGAGTTCTACATGGCCTATGCAGACTATCACGATCTCATGGAAATCACGGAGAAGATGGTTTCAGGGATGGTGAAGCATATTACAGGCAGTTACAAGGTCACCTACCACCCAGATGGCCCAGAGGGC
CAAGCCTACGATGTTGACTTCACCCCACCCTTCCGGCGAATCAACATGGTAGAAGAGCTTGAGAAAGCCCTGGGGATGAAGCTGCCAGAAACGAACCTCTTTGAAACTGAAGAAACTCGCAAAATTCT
TGATGATATCTGTGTGGCAAAAGCTGTTGAATGCCCTCCACCTCGGACCACAGCCAGGCTCCTTGACAAGCTTGTTGGGGAGTTCCTGGAAGTGACTTGCATCAATCCTACATTCATCTGTGATCACC
CACAGATAATGAGCCCTTTGGCTAAATGGCACCGCTCTAAAGAGGGTCTGACTGAGCGCTTTGAGCTGTTTGTCATGAAGAAAGAGATATGCAATGCGTATACTGAGCTGAATGATCCCATGCGGCAG
CGGCAGCTTTTTGAAGAACAGGCCAAGGCCAAGGCTGCAGGTGATGATGAGGCCATGTTCATAGATGAAAACTTCTGTACTGCCCTGGAATATGGGCTGCCCCCCACAGCTGGCTGGGGCATGGGCAT
TGATCGAGTCGCCATGTTTCTCACGGACTCCAACAACATCAAGGAAGTACTTCTGTTTCCTGCCATGAAACCCGAAGACAAGAAGGAGAATGTAGCAACCACTGATACACTGGAAAGCACAACAGTTG
GCACTTCTGTCTAGAAAATAATAATTGCAAGTTGTATAACTCAGGCGTCTTTGCATTTCTGCGAAAGATCAAGGTCTGCAAGGGAATTCTTGTGTGCTGCTTTCCATTTGACACCGCAGTTCTGTTCA
GCCATCAGAAGAGAGACAAGGAATTAAAAATTTCTTTTTAATCCTGTTACCAAATAA

hide sequence

RefSeq Acc Id:

NM_005548 ⟹ NP_005539

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	75,627,724 - 75,647,665 (-)	NCBI
GRCh37	16	75,661,622 - 75,681,585 (-)	ENTREZGENE
Build 36	16	74,219,131 - 74,239,078 (-)	NCBI Archive
HuRef	16	61,415,299 - 61,435,262 (-)	ENTREZGENE
CHM1_1	16	77,074,018 - 77,093,985 (-)	NCBI
T2T-CHM13v2.0	16	81,676,020 - 81,695,962 (-)	NCBI

Sequence:

show sequence

ACTTTTGGGTCGGGCCCTCCGGGAAGATGGCGGCCGTGCAGGCGGCCGAGGTGAAAGTGGATGG
CAGCGAGCCGAAACTGAGCAAGAATGAGCTGAAGAGACGCCTGAAAGCTGAGAAGAAAGTAGCAGAGAAGGAGGCCAAACAGAAAGAGCTCAGTGAGAAACAGCTAAGCCAAGCCACTGCTGCTGCCA
CCAACCACACCACTGATAATGGTGTGGGTCCTGAGGAAGAGAGCGTGGACCCAAATCAATACTACAAAATCCGCAGTCAAGCAATTCATCAGCTGAAGGTCAATGGGGAAGACCCATACCCACACAAG
TTCCATGTAGACATCTCACTCACTGACTTCATCCAAAAATATAGTCACCTGCAGCCTGGGGATCACCTGACTGACATCACCTTAAAGGTGGCAGGTAGGATCCATGCCAAAAGAGCTTCTGGGGGAAA
GCTCATCTTCTATGATCTTCGAGGAGAGGGGGTGAAGTTGCAAGTCATGGCCAATTCCAGAAATTATAAATCAGAAGAAGAATTTATTCATATTAATAACAAACTGCGTCGGGGAGACATAATTGGAG
TTCAGGGGAATCCTGGTAAAACCAAGAAGGGTGAGCTGAGCATCATTCCGTATGAGATCACACTGCTGTCTCCCTGTTTGCATATGTTACCTCATCTTCACTTTGGCCTCAAAGACAAGGAAACAAGG
TATCGCCAGAGATACTTGGACTTGATCCTGAATGACTTTGTGAGGCAGAAATTTATCATCCGCTCTAAGATCATCACATATATAAGAAGTTTCTTAGATGAGCTGGGATTCCTAGAGATTGAAACTCC
CATGATGAACATCATCCCAGGGGGAGCCGTGGCCAAGCCTTTCATCACTTATCACAACGAGCTGGACATGAACTTATATATGAGAATTGCTCCAGAACTCTATCATAAGATGCTTGTGGTTGGTGGCA
TCGACCGGGTTTATGAAATTGGACGCCAGTTCCGGAATGAGGGGATTGATTTGACGCACAATCCTGAGTTCACCACCTGTGAGTTCTACATGGCCTATGCAGACTATCACGATCTCATGGAAATCACG
GAGAAGATGGTTTCAGGGATGGTGAAGCATATTACAGGCAGTTACAAGGTCACCTACCACCCAGATGGCCCAGAGGGCCAAGCCTACGATGTTGACTTCACCCCACCCTTCCGGCGAATCAACATGGT
AGAAGAGCTTGAGAAAGCCCTGGGGATGAAGCTGCCAGAAACGAACCTCTTTGAAACTGAAGAAACTCGCAAAATTCTTGATGATATCTGTGTGGCAAAAGCTGTTGAATGCCCTCCACCTCGGACCA
CAGCCAGGCTCCTTGACAAGCTTGTTGGGGAGTTCCTGGAAGTGACTTGCATCAATCCTACATTCATCTGTGATCACCCACAGATAATGAGCCCTTTGGCTAAATGGCACCGCTCTAAAGAGGGTCTG
ACTGAGCGCTTTGAGCTGTTTGTCATGAAGAAAGAGATATGCAATGCGTATACTGAGCTGAATGATCCCATGCGGCAGCGGCAGCTTTTTGAAGAACAGGCCAAGGCCAAGGCTGCAGGTGATGATGA
GGCCATGTTCATAGATGAAAACTTCTGTACTGCCCTGGAATATGGGCTGCCCCCCACAGCTGGCTGGGGCATGGGCATTGATCGAGTCGCCATGTTTCTCACGGACTCCAACAACATCAAGGAAGTAC
TTCTGTTTCCTGCCATGAAACCCGAAGACAAGAAGGAGAATGTAGCAACCACTGATACACTGGAAAGCACAACAGTTGGCACTTCTGTCTAGAAAATAATAATTGCAAGTTGTATAACTCAGGCGTCT
TTGCATTTCTGCGAAAGATCAAGGTCTGCAAGGGAATTCTTGTGTGCTGCTTTCCATTTGACACCGCAGTTCTGTTCAGCCATCAGAAGAGAGACAAGGAATTAAAAATTTCTTTTTAATCCTGTTAC
CAAATAA

hide sequence


Protein RefSeqs	NP_001123561	(Get FASTA)	NCBI Sequence Viewer
	NP_001365077	(Get FASTA)	NCBI Sequence Viewer
	NP_005539	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAG30114	(Get FASTA)	NCBI Sequence Viewer
	AAH04132	(Get FASTA)	NCBI Sequence Viewer
	BAA06688	(Get FASTA)	NCBI Sequence Viewer
	BAA22084	(Get FASTA)	NCBI Sequence Viewer
	BAC86604	(Get FASTA)	NCBI Sequence Viewer
	EAW95619	(Get FASTA)	NCBI Sequence Viewer
	EAW95620	(Get FASTA)	NCBI Sequence Viewer
	EAW95621	(Get FASTA)	NCBI Sequence Viewer
	EAW95622	(Get FASTA)	NCBI Sequence Viewer
	EAW95623	(Get FASTA)	NCBI Sequence Viewer
	EAW95624	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000303043
	ENSP00000303043.3
	ENSP00000325448
	ENSP00000325448.5
GenBank Protein	Q15046	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_005539 ⟸ NM_005548
- Peptide Label:	isoform 2
- UniProtKB:	Q96J25 (UniProtKB/Swiss-Prot), O14946 (UniProtKB/Swiss-Prot), D3DUK4 (UniProtKB/Swiss-Prot), A8MSK1 (UniProtKB/Swiss-Prot), Q9HB23 (UniProtKB/Swiss-Prot), Q15046 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAAVQAAEVKVDGSEPKLSKNELKRRLKAEKKVAEKEAKQKELSEKQLSQATAAATNHTTDNGVGPEEESVDPNQYYKIRSQAIHQLKVNGEDPYPHKFHVDISLTDFIQKYSHLQPGDHLTDITLKV AGRIHAKRASGGKLIFYDLRGEGVKLQVMANSRNYKSEEEFIHINNKLRRGDIIGVQGNPGKTKKGELSIIPYEITLLSPCLHMLPHLHFGLKDKETRYRQRYLDLILNDFVRQKFIIRSKIITYIRS FLDELGFLEIETPMMNIIPGGAVAKPFITYHNELDMNLYMRIAPELYHKMLVVGGIDRVYEIGRQFRNEGIDLTHNPEFTTCEFYMAYADYHDLMEITEKMVSGMVKHITGSYKVTYHPDGPEGQAYD VDFTPPFRRINMVEELEKALGMKLPETNLFETEETRKILDDICVAKAVECPPPRTTARLLDKLVGEFLEVTCINPTFICDHPQIMSPLAKWHRSKEGLTERFELFVMKKEICNAYTELNDPMRQRQLF EEQAKAKAAGDDEAMFIDENFCTALEYGLPPTAGWGMGIDRVAMFLTDSNNIKEVLLFPAMKPEDKKENVATTDTLESTTVGTSV hide sequence

RefSeq Acc Id:	NP_001123561 ⟸ NM_001130089
- Peptide Label:	isoform 1
- UniProtKB:	Q15046 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLTQAAVRLVRGSLRKTSWAEWGHRELRLGQLAPFTAPHKDKSFSDQRSELKRRLKAEKKVAEKEAKQKELSEKQLSQATAAATNHTTDNGVGPEEESVDPNQYYKIRSQAIHQLKVNGEDPYPHKFH VDISLTDFIQKYSHLQPGDHLTDITLKVAGRIHAKRASGGKLIFYDLRGEGVKLQVMANSRNYKSEEEFIHINNKLRRGDIIGVQGNPGKTKKGELSIIPYEITLLSPCLHMLPHLHFGLKDKETRYR QRYLDLILNDFVRQKFIIRSKIITYIRSFLDELGFLEIETPMMNIIPGGAVAKPFITYHNELDMNLYMRIAPELYHKMLVVGGIDRVYEIGRQFRNEGIDLTHNPEFTTCEFYMAYADYHDLMEITEK MVSGMVKHITGSYKVTYHPDGPEGQAYDVDFTPPFRRINMVEELEKALGMKLPETNLFETEETRKILDDICVAKAVECPPPRTTARLLDKLVGEFLEVTCINPTFICDHPQIMSPLAKWHRSKEGLTE RFELFVMKKEICNAYTELNDPMRQRQLFEEQAKAKAAGDDEAMFIDENFCTALEYGLPPTAGWGMGIDRVAMFLTDSNNIKEVLLFPAMKPEDKKENVATTDTLESTTVGTSV hide sequence

RefSeq Acc Id:	NP_001365077 ⟸ NM_001378148
- Peptide Label:	isoform 3

Ensembl Acc Id:

ENSP00000458028 ⟸ ENST00000570215

Ensembl Acc Id:

ENSP00000456185 ⟸ ENST00000562875

Protein Domains

Aminoacyl-tRNA synthetase class II (D/K/N) OB

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q15046-F1-model_v2	AlphaFold	Q15046	1-597	view protein structure

RGD ID:

6852912

Promoter ID:

EP74274

Type:

initiation region

Name:

HS_KARS

Description:

Lysyl-tRNA synthetase.

SO ACC ID:

SO:0000170

Source:

EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Mammalian gene collection (MGC) full-length cDNA cloning

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	74,239,043 - 74,239,103	EPD

RGD ID:

6793217

Promoter ID:

HG_KWN:24287

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:

ENST00000378668, NM_001130089, NM_005548, NM_018975, UC002FES.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	74,239,056 - 74,240,057 (-)	MPROMDB

RGD ID:

6793211

Promoter ID:

HG_KWN:24288

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

UC010CHA.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	74,239,701 - 74,240,201 (-)	MPROMDB

RGD ID:

7232881

Promoter ID:

EPDNEW_H22186

Type:

initiation region

Name:

KARS_1

Description:

lysyl-tRNA synthetase

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H22188

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	75,647,665 - 75,647,725	EPDNEW

RGD ID:

7232885

Promoter ID:

EPDNEW_H22188

Type:

multiple initiation site

Name:

KARS_2

Description:

lysyl-tRNA synthetase

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H22186

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	75,648,650 - 75,648,710	EPDNEW

Database	Acc Id	Source(s)
COSMIC	KARS1	COSMIC
Ensembl Genes	ENSG00000065427	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000302445	ENTREZGENE
	ENST00000302445.8	UniProtKB/Swiss-Prot
	ENST00000319410	ENTREZGENE
	ENST00000319410.9	UniProtKB/Swiss-Prot
Gene3D-CATH	2.40.50.140	UniProtKB/Swiss-Prot
	Bira Bifunctional Protein, Domain 2	UniProtKB/Swiss-Prot
GTEx	ENSG00000065427	GTEx
HGNC ID	HGNC:6215	ENTREZGENE
Human Proteome Map	KARS1	Human Proteome Map
InterPro	aa-tRNA-synt_II	UniProtKB/Swiss-Prot
	aa-tRNA-synth_II	UniProtKB/Swiss-Prot
	aa-tRNA-synth_II/BPL/LPL	UniProtKB/Swiss-Prot
	Lys-tRNA-ligase_II	UniProtKB/Swiss-Prot
	Lys-tRNA-ligase_II_bac/euk	UniProtKB/Swiss-Prot
	Lys-tRNA-ligase_II_N	UniProtKB/Swiss-Prot
	Lys-tRNA-synth_II_C	UniProtKB/Swiss-Prot
	NA-bd_OB-fold	UniProtKB/Swiss-Prot
	NA-bd_OB_tRNA	UniProtKB/Swiss-Prot
KEGG Report	hsa:3735	UniProtKB/Swiss-Prot
NCBI Gene	3735	ENTREZGENE
OMIM	601421	OMIM
PANTHER	LYSINE--TRNA LIGASE	UniProtKB/Swiss-Prot
	LYSYL-TRNA SYNTHETASE	UniProtKB/Swiss-Prot
Pfam	tRNA-synt_2	UniProtKB/Swiss-Prot
	tRNA_anti-codon	UniProtKB/Swiss-Prot
PharmGKB	PA30016	PharmGKB
PIRSF	LysRS2	UniProtKB/Swiss-Prot
PRINTS	TRNASYNTHLYS	UniProtKB/Swiss-Prot
PROSITE	AA_TRNA_LIGASE_II	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF50249	UniProtKB/Swiss-Prot
	SSF55681	UniProtKB/Swiss-Prot
UniProt	A8MSK1	ENTREZGENE
	D3DUK4	ENTREZGENE
	H3BMR9_HUMAN	UniProtKB/TrEMBL
	H3BPV7_HUMAN	UniProtKB/TrEMBL
	H3BQK5_HUMAN	UniProtKB/TrEMBL
	H3BRC9_HUMAN	UniProtKB/TrEMBL
	H3BSN6_HUMAN	UniProtKB/TrEMBL
	H3BVA8_HUMAN	UniProtKB/TrEMBL
	J3KRL2_HUMAN	UniProtKB/TrEMBL
	O14946	ENTREZGENE
	Q15046	ENTREZGENE
	Q96J25	ENTREZGENE
	Q9HB23	ENTREZGENE
	SYK_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	A8MSK1	UniProtKB/Swiss-Prot
	D3DUK4	UniProtKB/Swiss-Prot
	O14946	UniProtKB/Swiss-Prot
	Q96J25	UniProtKB/Swiss-Prot
	Q9HB23	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-07-23	KARS1	lysyl-tRNA synthetase 1	KARS	lysyl-tRNA synthetase	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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