LIAS (lipoic acid synthetase) - Rat Genome Database

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Gene: LIAS (lipoic acid synthetase) Homo sapiens
Analyze
Symbol: LIAS
Name: lipoic acid synthetase
RGD ID: 1316364
HGNC Page HGNC:16429
Description: Predicted to enable lipoate synthase activity. Predicted to be involved in several processes, including lipoate biosynthetic process; response to lipopolysaccharide; and response to oxidative stress. Predicted to act upstream of or within neural tube closure. Located in mitochondrion. Implicated in pyruvate decarboxylase deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HGCLAS; HUSSY-01; LAS; lip-syn; LIP1; lipoate synthase; lipoic acid synthase; lipoyl synthase, mitochondrial; LS; MGC23245; PDHLD
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38439,459,056 - 39,479,506 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl439,459,004 - 39,485,109 (+)EnsemblGRCh38hg38GRCh38
GRCh37439,460,676 - 39,481,126 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36439,137,060 - 39,155,668 (+)NCBINCBI36Build 36hg18NCBI36
Build 34439,283,230 - 39,301,835NCBI
Celera439,898,493 - 39,917,063 (+)NCBICelera
Cytogenetic Map4p14NCBI
HuRef438,785,637 - 38,804,275 (+)NCBIHuRef
CHM1_1439,460,097 - 39,478,701 (+)NCBICHM1_1
T2T-CHM13v2.0439,428,708 - 39,449,155 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
mitochondrial matrix  (TAS)
mitochondrion  (HTP,IBA,IEA,ISS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# 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. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:11124703   PMID:11389890   PMID:12477932   PMID:15489334   PMID:17207965   PMID:18029348   PMID:19074983   PMID:20877624   PMID:21873635   PMID:22152680   PMID:24334290   PMID:26108146  
PMID:27717843   PMID:27923773   PMID:29676528   PMID:30033366   PMID:33562493   PMID:33961781   PMID:34079125   PMID:34373451   PMID:34709727   PMID:34800366   PMID:35156780   PMID:37453661  


Genomics

Comparative Map Data
LIAS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38439,459,056 - 39,479,506 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl439,459,004 - 39,485,109 (+)EnsemblGRCh38hg38GRCh38
GRCh37439,460,676 - 39,481,126 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36439,137,060 - 39,155,668 (+)NCBINCBI36Build 36hg18NCBI36
Build 34439,283,230 - 39,301,835NCBI
Celera439,898,493 - 39,917,063 (+)NCBICelera
Cytogenetic Map4p14NCBI
HuRef438,785,637 - 38,804,275 (+)NCBIHuRef
CHM1_1439,460,097 - 39,478,701 (+)NCBICHM1_1
T2T-CHM13v2.0439,428,708 - 39,449,155 (+)NCBIT2T-CHM13v2.0
Lias
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39565,548,840 - 65,567,766 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl565,548,840 - 65,568,036 (+)EnsemblGRCm39 Ensembl
GRCm38565,391,497 - 65,410,423 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl565,391,497 - 65,410,693 (+)EnsemblGRCm38mm10GRCm38
MGSCv37565,782,736 - 65,800,446 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36565,670,632 - 65,688,342 (+)NCBIMGSCv36mm8
Celera562,668,175 - 62,685,891 (+)NCBICelera
Cytogenetic Map5C3.1NCBI
cM Map533.66NCBI
Lias
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81443,230,369 - 43,247,469 (-)NCBIGRCr8
mRatBN7.21442,876,699 - 42,893,824 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1442,876,699 - 42,893,783 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1443,230,511 - 43,247,734 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01444,530,429 - 44,547,653 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01443,010,544 - 43,027,770 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01444,507,217 - 44,524,287 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1444,507,218 - 44,524,252 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01444,326,598 - 44,343,665 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41445,575,334 - 45,592,514 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11445,577,725 - 45,594,905 (-)NCBI
Celera1442,027,393 - 42,044,418 (-)NCBICelera
Cytogenetic Map14p11NCBI
Lias
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554437,889,467 - 7,907,437 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554437,889,274 - 7,907,560 (-)NCBIChiLan1.0ChiLan1.0
LIAS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2339,648,364 - 39,666,896 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1439,840,401 - 39,858,931 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0433,787,804 - 33,806,289 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1439,639,960 - 39,657,805 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl439,639,960 - 39,657,805 (+)Ensemblpanpan1.1panPan2
LIAS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1372,973,527 - 72,989,522 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl372,949,512 - 72,989,487 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha375,520,382 - 75,536,407 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0373,746,941 - 73,762,971 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl373,746,936 - 73,762,912 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1373,013,540 - 73,029,564 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0373,159,817 - 73,175,837 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0373,546,343 - 73,562,369 (-)NCBIUU_Cfam_GSD_1.0
Lias
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528539,212,659 - 39,229,901 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364827,068,445 - 7,084,504 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364827,068,326 - 7,085,571 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LIAS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl830,699,330 - 30,720,335 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1830,699,278 - 30,717,009 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2832,314,342 - 32,332,042 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LIAS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12710,832,384 - 10,850,517 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2710,829,865 - 10,850,552 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604757,224,471 - 57,242,633 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lias
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248704,809,154 - 4,825,676 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LIAS
361 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006859.4(LIAS):c.218G>C (p.Arg73Thr) single nucleotide variant Lipoic acid synthetase deficiency [RCV000526052] Chr4:39460962 [GRCh38]
Chr4:39462582 [GRCh37]
Chr4:4p14		 uncertain significance
NC_000004.11:g.(?_39460718)_(39478755_?)dup duplication Lipoic acid synthetase deficiency [RCV000549144] Chr4:39459098..39477135 [GRCh38]
Chr4:39460718..39478755 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.60T>C (p.Tyr20=) single nucleotide variant Lipoic acid synthetase deficiency [RCV000532731]|not provided [RCV001704682] Chr4:39460804 [GRCh38]
Chr4:39462424 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.746G>A (p.Arg249His) single nucleotide variant Lipoic acid synthetase deficiency [RCV000023604] Chr4:39470027 [GRCh38]
Chr4:39471647 [GRCh37]
Chr4:4p14		 pathogenic|uncertain significance
NM_006859.4(LIAS):c.120G>T (p.Gln40His) single nucleotide variant Lipoic acid synthetase deficiency [RCV000542397] Chr4:39460864 [GRCh38]
Chr4:39462484 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.726G>A (p.Pro242=) single nucleotide variant LIAS-related disorder [RCV004758037]|Lipoic acid synthetase deficiency [RCV000542906]|not provided [RCV001534075] Chr4:39467635 [GRCh38]
Chr4:39469255 [GRCh37]
Chr4:4p14		 benign|likely benign
NM_000661.4(RPL9):c.150G>A (p.Lys50=) single nucleotide variant Malignant melanoma [RCV000060987] Chr4:39458206 [GRCh38]
Chr4:39459826 [GRCh37]
Chr4:39136221 [NCBI36]
Chr4:4p14		 not provided
NM_006859.4(LIAS):c.884-14T>A single nucleotide variant Lipoic acid synthetase deficiency [RCV001517034]|not provided [RCV004717043]|not specified [RCV000126623] Chr4:39471222 [GRCh38]
Chr4:39472842 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.306C>A (p.Leu102=) single nucleotide variant Lipoic acid synthetase deficiency [RCV000540749]|not provided [RCV000677016]|not specified [RCV000126624] Chr4:39462283 [GRCh38]
Chr4:39463903 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.393+10G>A single nucleotide variant Lipoic acid synthetase deficiency [RCV000555762]|not specified [RCV000126625] Chr4:39463615 [GRCh38]
Chr4:39465235 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.-35C>T single nucleotide variant not specified [RCV000126626] Chr4:39459083 [GRCh38]
Chr4:39460703 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.-32A>T single nucleotide variant not specified [RCV000126627] Chr4:39459086 [GRCh38]
Chr4:39460706 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.507A>G (p.Glu169=) single nucleotide variant Lipoic acid synthetase deficiency [RCV001509664]|not provided [RCV000677017]|not specified [RCV000126628] Chr4:39465159 [GRCh38]
Chr4:39466779 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.737+13A>T single nucleotide variant Lipoic acid synthetase deficiency [RCV001511522]|not provided [RCV004715714]|not specified [RCV000126629] Chr4:39467659 [GRCh38]
Chr4:39469279 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.817A>G (p.Ile273Val) single nucleotide variant Lipoic acid synthetase deficiency [RCV002001874] Chr4:39470098 [GRCh38]
Chr4:39471718 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.76A>G (p.Arg26Gly) single nucleotide variant Lipoic acid synthetase deficiency [RCV001331651] Chr4:39460820 [GRCh38]
Chr4:39462440 [GRCh37]
Chr4:4p14		 conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3 copy number gain See cases [RCV000138039] Chr4:39444586..46117146 [GRCh38]
Chr4:39446206..46119163 [GRCh37]
Chr4:39122601..45813920 [NCBI36]
Chr4:4p14-12		 uncertain significance
GRCh38/hg38 4p14(chr4:39222108-39491610)x3 copy number gain See cases [RCV000141574] Chr4:39222108..39491610 [GRCh38]
Chr4:39223728..39493230 [GRCh37]
Chr4:38900123..39169625 [NCBI36]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.850G>A (p.Glu284Lys) single nucleotide variant Lipoic acid synthetase deficiency [RCV000801566]|not provided [RCV000188048] Chr4:39470131 [GRCh38]
Chr4:39471751 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.930G>A (p.Met310Ile) single nucleotide variant Lipoic acid synthetase deficiency [RCV001296340]|not provided [RCV000188050] Chr4:39471282 [GRCh38]
Chr4:39472902 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.89C>T (p.Ser30Phe) single nucleotide variant Lipoic acid synthetase deficiency [RCV001303796]|not provided [RCV000188052] Chr4:39460833 [GRCh38]
Chr4:39462453 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.292C>T (p.Arg98Trp) single nucleotide variant Lipoic acid synthetase deficiency [RCV000696446] Chr4:39462269 [GRCh38]
Chr4:39463889 [GRCh37]
Chr4:4p14		 likely pathogenic|uncertain significance
NM_006859.4(LIAS):c.217del (p.Arg73fs) deletion not provided [RCV000188055] Chr4:39460959 [GRCh38]
Chr4:39462579 [GRCh37]
Chr4:4p14		 pathogenic
NM_006859.4(LIAS):c.542A>T (p.Asp181Val) single nucleotide variant Lipoic acid synthetase deficiency [RCV001204325] Chr4:39465194 [GRCh38]
Chr4:39466814 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.297T>C (p.Asn99=) single nucleotide variant Lipoic acid synthetase deficiency [RCV000861542]|not provided [RCV003430737]|not specified [RCV000188044] Chr4:39462274 [GRCh38]
Chr4:39463894 [GRCh37]
Chr4:4p14		 benign|likely benign
NM_006859.4(LIAS):c.393+8C>A single nucleotide variant Lipoic acid synthetase deficiency [RCV000529515]|not provided [RCV002262778] Chr4:39463613 [GRCh38]
Chr4:39465233 [GRCh37]
Chr4:4p14		 benign|likely benign
NM_006859.4(LIAS):c.31A>T (p.Thr11Ser) single nucleotide variant Inborn genetic diseases [RCV004020275]|Lipoic acid synthetase deficiency [RCV000650027] Chr4:39459148 [GRCh38]
Chr4:39460768 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_006859.4(LIAS):c.849C>T (p.Gly283=) single nucleotide variant LIAS-related disorder [RCV003917714]|Lipoic acid synthetase deficiency [RCV001080362]|not provided [RCV000188047] Chr4:39470130 [GRCh38]
Chr4:39471750 [GRCh37]
Chr4:4p14		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006859.4(LIAS):c.872C>T (p.Ala291Val) single nucleotide variant Lipoic acid synthetase deficiency [RCV001852472]|not provided [RCV000188049] Chr4:39470153 [GRCh38]
Chr4:39471773 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.944G>A (p.Arg315His) single nucleotide variant Lipoic acid synthetase deficiency [RCV000650017]|not provided [RCV000712220] Chr4:39471296 [GRCh38]
Chr4:39472916 [GRCh37]
Chr4:4p14		 benign|uncertain significance
NM_006859.4(LIAS):c.122A>G (p.Asn41Ser) single nucleotide variant Lipoic acid synthetase deficiency [RCV000548048]|not provided [RCV000188053] Chr4:39460866 [GRCh38]
Chr4:39462486 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.637A>G (p.Thr213Ala) single nucleotide variant Inborn genetic diseases [RCV002516996]|Lipoic acid synthetase deficiency [RCV000822700]|not provided [RCV000188057] Chr4:39467546 [GRCh38]
Chr4:39469166 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3 copy number gain See cases [RCV000240190] Chr4:38532827..49064044 [GRCh37]
Chr4:4p14-11		 pathogenic
GRCh37/hg19 4p14(chr4:39478387-39478807)x1 copy number loss See cases [RCV000240073] Chr4:39478387..39478807 [GRCh37]
Chr4:4p14		 pathogenic
NM_006859.4(LIAS):c.645T>A (p.Asp215Glu) single nucleotide variant Lipoic acid synthetase deficiency [RCV000210212] Chr4:39467554 [GRCh38]
Chr4:39469174 [GRCh37]
Chr4:4p14		 pathogenic|uncertain significance
NM_006859.4(LIAS):c.475_477delinsAAA (p.Glu159Lys) indel Lipoic acid synthetase deficiency [RCV000210221] Chr4:39465127..39465129 [GRCh38]
Chr4:39466747..39466749 [GRCh37]
Chr4:4p14		 pathogenic
NM_006859.4(LIAS):c.173C>A (p.Thr58Asn) single nucleotide variant Lipoic acid synthetase deficiency [RCV001367966] Chr4:39460917 [GRCh38]
Chr4:39462537 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_006859.4(LIAS):c.301A>G (p.Asn101Asp) single nucleotide variant Lipoic acid synthetase deficiency [RCV001855181]|not provided [RCV000325207] Chr4:39462278 [GRCh38]
Chr4:39463898 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_006859.4(LIAS):c.114C>A (p.Leu38=) single nucleotide variant Lipoic acid synthetase deficiency [RCV000527383] Chr4:39460858 [GRCh38]
Chr4:39462478 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.905A>G (p.Asp302Gly) single nucleotide variant Lipoic acid synthetase deficiency [RCV000807984]|not provided [RCV000730707] Chr4:39471257 [GRCh38]
Chr4:39472877 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.877A>G (p.Met293Val) single nucleotide variant Lipoic acid synthetase deficiency [RCV001331649]|not provided [RCV000730292] Chr4:39470158 [GRCh38]
Chr4:39471778 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.-1A>G single nucleotide variant LIAS-related disorder [RCV003947954]|not provided [RCV000733780] Chr4:39459117 [GRCh38]
Chr4:39460737 [GRCh37]
Chr4:4p14		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006859.4(LIAS):c.529C>T (p.Leu177=) single nucleotide variant Lipoic acid synthetase deficiency [RCV001488393] Chr4:39465181 [GRCh38]
Chr4:39466801 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.45+15G>A single nucleotide variant Lipoic acid synthetase deficiency [RCV001509663]|not provided [RCV001619835]|not specified [RCV000734058] Chr4:39459177 [GRCh38]
Chr4:39460797 [GRCh37]
Chr4:4p14		 benign
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_006859.4(LIAS):c.-29C>T single nucleotide variant not specified [RCV000434316] Chr4:39459089 [GRCh38]
Chr4:39460709 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.807G>A (p.Gln269=) single nucleotide variant LIAS-related disorder [RCV004758010]|Lipoic acid synthetase deficiency [RCV000862428]|not provided [RCV001703461] Chr4:39470088 [GRCh38]
Chr4:39471708 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.393+4G>A single nucleotide variant Lipoic acid synthetase deficiency [RCV000650021]|not provided [RCV001697795] Chr4:39463609 [GRCh38]
Chr4:39465229 [GRCh37]
Chr4:4p14		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006859.4(LIAS):c.57A>C (p.Arg19Ser) single nucleotide variant Inborn genetic diseases [RCV003168627]|LIAS-related disorder [RCV003970117]|Lipoic acid synthetase deficiency [RCV001082170]|not provided [RCV000712219]|not specified [RCV000442643] Chr4:39460801 [GRCh38]
Chr4:39462421 [GRCh37]
Chr4:4p14		 benign|likely benign
NM_006859.4(LIAS):c.954+1G>A single nucleotide variant Lipoic acid synthetase deficiency [RCV002524852]|not provided [RCV000418957] Chr4:39471307 [GRCh38]
Chr4:39472927 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_006859.4(LIAS):c.708T>G (p.His236Gln) single nucleotide variant Inborn genetic diseases [RCV002525523]|Lipoic acid synthetase deficiency [RCV001861643]|not provided [RCV000426756] Chr4:39467617 [GRCh38]
Chr4:39469237 [GRCh37]
Chr4:4p14		 likely pathogenic|uncertain significance
NM_006859.4(LIAS):c.-45T>C single nucleotide variant not specified [RCV000432933] Chr4:39459073 [GRCh38]
Chr4:39460693 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.757G>C (p.Ala253Pro) single nucleotide variant not provided [RCV000433164] Chr4:39470038 [GRCh38]
Chr4:39471658 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_006859.4(LIAS):c.983T>A (p.Phe328Tyr) single nucleotide variant not provided [RCV000478591] Chr4:39473128 [GRCh38]
Chr4:39474748 [GRCh37]
Chr4:4p14		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
NM_006859.4(LIAS):c.889C>A (p.Arg297Ser) single nucleotide variant Inborn genetic diseases [RCV003287660] Chr4:39471241 [GRCh38]
Chr4:39472861 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.737+9G>A single nucleotide variant Lipoic acid synthetase deficiency [RCV000559589] Chr4:39467655 [GRCh38]
Chr4:39469275 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.387G>A (p.Thr129=) single nucleotide variant Lipoic acid synthetase deficiency [RCV001477961]|not specified [RCV000612717] Chr4:39463599 [GRCh38]
Chr4:39465219 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.7C>T (p.Leu3=) single nucleotide variant Lipoic acid synthetase deficiency [RCV000533614] Chr4:39459124 [GRCh38]
Chr4:39460744 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.884-18G>A single nucleotide variant Lipoic acid synthetase deficiency [RCV003528213]|not specified [RCV000610431] Chr4:39471218 [GRCh38]
Chr4:39472838 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.683T>C (p.Leu228Pro) single nucleotide variant Lipoic acid synthetase deficiency [RCV000650015] Chr4:39467592 [GRCh38]
Chr4:39469212 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.331T>A (p.Cys111Ser) single nucleotide variant Lipoic acid synthetase deficiency [RCV000650016]|not provided [RCV000730078] Chr4:39463543 [GRCh38]
Chr4:39465163 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.29G>A (p.Arg10His) single nucleotide variant Lipoic acid synthetase deficiency [RCV000650018] Chr4:39459146 [GRCh38]
Chr4:39460766 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.110A>T (p.Glu37Val) single nucleotide variant Lipoic acid synthetase deficiency [RCV000650019] Chr4:39460854 [GRCh38]
Chr4:39462474 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.173C>T (p.Thr58Ile) single nucleotide variant Inborn genetic diseases [RCV004025790]|Lipoic acid synthetase deficiency [RCV000650020] Chr4:39460917 [GRCh38]
Chr4:39462537 [GRCh37]
Chr4:4p14		 uncertain significance
NM_001363700.2(LIAS):c.299+1682_299+1690del deletion Lipoic acid synthetase deficiency [RCV000650022] Chr4:39465284..39465292 [GRCh38]
Chr4:39466904..39466912 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.64dup (p.Cys22fs) duplication Lipoic acid synthetase deficiency [RCV000650023] Chr4:39460803..39460804 [GRCh38]
Chr4:39462423..39462424 [GRCh37]
Chr4:4p14		 pathogenic
NM_006859.4(LIAS):c.363del (p.Glu122fs) deletion Lipoic acid synthetase deficiency [RCV000650024] Chr4:39463575 [GRCh38]
Chr4:39465195 [GRCh37]
Chr4:4p14		 pathogenic
NM_006859.4(LIAS):c.592T>A (p.Ser198Thr) single nucleotide variant Lipoic acid synthetase deficiency [RCV000650025] Chr4:39465326 [GRCh38]
Chr4:39466946 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.473G>C (p.Ser158Thr) single nucleotide variant Lipoic acid synthetase deficiency [RCV000650026] Chr4:39465125 [GRCh38]
Chr4:39466745 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.129A>G (p.Pro43=) single nucleotide variant Lipoic acid synthetase deficiency [RCV000650028]|not provided [RCV001692249] Chr4:39460873 [GRCh38]
Chr4:39462493 [GRCh37]
Chr4:4p14		 benign|likely benign
NM_006859.4(LIAS):c.-12C>T single nucleotide variant not specified [RCV000600638] Chr4:39459106 [GRCh38]
Chr4:39460726 [GRCh37]
Chr4:4p14		 likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_006859.4(LIAS):c.277del (p.Lys92_Leu93insTer) deletion Lipoic acid synthetase deficiency [RCV001208252]|not provided [RCV000627392] Chr4:39462254 [GRCh38]
Chr4:39463874 [GRCh37]
Chr4:4p14		 pathogenic|uncertain significance
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_006859.4(LIAS):c.140A>G (p.Asp47Gly) single nucleotide variant Lipoic acid synthetase deficiency [RCV000700357] Chr4:39460884 [GRCh38]
Chr4:39462504 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.244A>G (p.Thr82Ala) single nucleotide variant Lipoic acid synthetase deficiency [RCV000698183] Chr4:39462221 [GRCh38]
Chr4:39463841 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.403G>C (p.Asp135His) single nucleotide variant Lipoic acid synthetase deficiency [RCV000698810] Chr4:39465055 [GRCh38]
Chr4:39466675 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.1106_1110del (p.Thr369fs) deletion Lipoic acid synthetase deficiency [RCV000700186] Chr4:39477098..39477102 [GRCh38]
Chr4:39478718..39478722 [GRCh37]
Chr4:4p14		 conflicting interpretations of pathogenicity|uncertain significance
NM_006859.4(LIAS):c.80C>T (p.Pro27Leu) single nucleotide variant Inborn genetic diseases [RCV002544898]|Lipoic acid synthetase deficiency [RCV000690970] Chr4:39460824 [GRCh38]
Chr4:39462444 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.725C>T (p.Pro242Leu) single nucleotide variant Lipoic acid synthetase deficiency [RCV000693760] Chr4:39467634 [GRCh38]
Chr4:39469254 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.376G>A (p.Ala126Thr) single nucleotide variant Lipoic acid synthetase deficiency [RCV001222759]|not provided [RCV000712218] Chr4:39463588 [GRCh38]
Chr4:39465208 [GRCh37]
Chr4:4p14		 uncertain significance
NC_000004.11:g.(?_39459814)_(39528725_?)dup duplication Pyruvate dehydrogenase lipoic acid synthetase deficiency [RCV000708154] Chr4:39458194..39527105 [GRCh38]
Chr4:39459814..39528725 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.563G>C (p.Gly188Ala) single nucleotide variant Lipoic acid synthetase deficiency [RCV000706297] Chr4:39465297 [GRCh38]
Chr4:39466917 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.650G>A (p.Arg217Gln) single nucleotide variant Lipoic acid synthetase deficiency [RCV000700777]|not provided [RCV003480788] Chr4:39467559 [GRCh38]
Chr4:39469179 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.37G>A (p.Gly13Arg) single nucleotide variant Lipoic acid synthetase deficiency [RCV000697865] Chr4:39459154 [GRCh38]
Chr4:39460774 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.890G>A (p.Arg297His) single nucleotide variant Lipoic acid synthetase deficiency [RCV000704982] Chr4:39471242 [GRCh38]
Chr4:39472862 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.737+1G>A single nucleotide variant Lipoic acid synthetase deficiency [RCV000693572] Chr4:39467647 [GRCh38]
Chr4:39469267 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_006859.4(LIAS):c.550+4A>G single nucleotide variant Lipoic acid synthetase deficiency [RCV000695685] Chr4:39465206 [GRCh38]
Chr4:39466826 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.797A>G (p.Lys266Arg) single nucleotide variant Lipoic acid synthetase deficiency [RCV000698446] Chr4:39470078 [GRCh38]
Chr4:39471698 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.643G>A (p.Asp215Asn) single nucleotide variant Inborn genetic diseases [RCV003163178]|Lipoic acid synthetase deficiency [RCV000694316] Chr4:39467552 [GRCh38]
Chr4:39469172 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.751C>T (p.Pro251Ser) single nucleotide variant Lipoic acid synthetase deficiency [RCV000687154] Chr4:39470032 [GRCh38]
Chr4:39471652 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.35T>A (p.Leu12Gln) single nucleotide variant Lipoic acid synthetase deficiency [RCV000687196] Chr4:39459152 [GRCh38]
Chr4:39460772 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.657T>A (p.Asp219Glu) single nucleotide variant Lipoic acid synthetase deficiency [RCV000703724] Chr4:39467566 [GRCh38]
Chr4:39469186 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_006859.4(LIAS):c.883+278A>G single nucleotide variant not provided [RCV001534313] Chr4:39470442 [GRCh38]
Chr4:39472062 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.954+32T>A single nucleotide variant not provided [RCV001583566] Chr4:39471338 [GRCh38]
Chr4:39472958 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.1066+329G>A single nucleotide variant not provided [RCV001669210] Chr4:39473540 [GRCh38]
Chr4:39475160 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.20A>T (p.Asp7Val) single nucleotide variant Lipoic acid synthetase deficiency [RCV001065076]|not provided [RCV003222213] Chr4:39459137 [GRCh38]
Chr4:39460757 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.738-304_738-301del deletion not provided [RCV001546712] Chr4:39469712..39469715 [GRCh38]
Chr4:39471332..39471335 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.889C>T (p.Arg297Cys) single nucleotide variant Lipoic acid synthetase deficiency [RCV002570775]|not provided [RCV001570413] Chr4:39471241 [GRCh38]
Chr4:39472861 [GRCh37]
Chr4:4p14		 uncertain significance
NC_000004.12:g.39458708G>A single nucleotide variant not provided [RCV001648016] Chr4:39458708 [GRCh38]
Chr4:39460328 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.*14C>A single nucleotide variant not provided [RCV001612721] Chr4:39477129 [GRCh38]
Chr4:39478749 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.168G>A (p.Arg56=) single nucleotide variant Lipoic acid synthetase deficiency [RCV000942862] Chr4:39460912 [GRCh38]
Chr4:39462532 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.27C>A (p.Ala9=) single nucleotide variant Lipoic acid synthetase deficiency [RCV001455949] Chr4:39459144 [GRCh38]
Chr4:39460764 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.298T>A (p.Leu100Ile) single nucleotide variant Lipoic acid synthetase deficiency [RCV001040465] Chr4:39462275 [GRCh38]
Chr4:39463895 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.66C>G (p.Cys22Trp) single nucleotide variant Lipoic acid synthetase deficiency [RCV001041713] Chr4:39460810 [GRCh38]
Chr4:39462430 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.11G>T (p.Arg4Leu) single nucleotide variant Lipoic acid synthetase deficiency [RCV001065491] Chr4:39459128 [GRCh38]
Chr4:39460748 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.329G>A (p.Arg110Gln) single nucleotide variant Lipoic acid synthetase deficiency [RCV001037519] Chr4:39463541 [GRCh38]
Chr4:39465161 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.880A>G (p.Lys294Glu) single nucleotide variant Lipoic acid synthetase deficiency [RCV001060081] Chr4:39470161 [GRCh38]
Chr4:39471781 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.1066+17G>A single nucleotide variant not provided [RCV000827382] Chr4:39473228 [GRCh38]
Chr4:39474848 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.723C>A (p.Val241=) single nucleotide variant Lipoic acid synthetase deficiency [RCV001419423] Chr4:39467632 [GRCh38]
Chr4:39469252 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.393+7C>A single nucleotide variant Lipoic acid synthetase deficiency [RCV000871595] Chr4:39463612 [GRCh38]
Chr4:39465232 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.738-4C>T single nucleotide variant not provided [RCV000898542] Chr4:39470015 [GRCh38]
Chr4:39471635 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.45+161C>T single nucleotide variant not provided [RCV000833835] Chr4:39459323 [GRCh38]
Chr4:39460943 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.609-125T>C single nucleotide variant not provided [RCV000835683] Chr4:39467393 [GRCh38]
Chr4:39469013 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.312A>G (p.Thr104=) single nucleotide variant Lipoic acid synthetase deficiency [RCV000799381] Chr4:39462289 [GRCh38]
Chr4:39463909 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.954+244G>A single nucleotide variant not provided [RCV000843267] Chr4:39471550 [GRCh38]
Chr4:39473170 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.1067-258T>A single nucleotide variant not provided [RCV000833447] Chr4:39476805 [GRCh38]
Chr4:39478425 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.393+7C>T single nucleotide variant Lipoic acid synthetase deficiency [RCV000808192] Chr4:39463612 [GRCh38]
Chr4:39465232 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_006859.4(LIAS):c.832A>C (p.Ile278Leu) single nucleotide variant Lipoic acid synthetase deficiency [RCV000805721] Chr4:39470113 [GRCh38]
Chr4:39471733 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.620T>G (p.Ile207Ser) single nucleotide variant Lipoic acid synthetase deficiency [RCV000805881] Chr4:39467529 [GRCh38]
Chr4:39469149 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.769C>G (p.Gln257Glu) single nucleotide variant Inborn genetic diseases [RCV003243329]|Lipoic acid synthetase deficiency [RCV000815783] Chr4:39470050 [GRCh38]
Chr4:39471670 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.23C>T (p.Ala8Val) single nucleotide variant Inborn genetic diseases [RCV004639378]|Lipoic acid synthetase deficiency [RCV000813169] Chr4:39459140 [GRCh38]
Chr4:39460760 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.313-152C>A single nucleotide variant not provided [RCV000832583] Chr4:39463373 [GRCh38]
Chr4:39464993 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.954+123G>A single nucleotide variant not provided [RCV000836827] Chr4:39471429 [GRCh38]
Chr4:39473049 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.1066+243A>C single nucleotide variant not provided [RCV000843213] Chr4:39473454 [GRCh38]
Chr4:39475074 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.954+188C>T single nucleotide variant not provided [RCV000843246] Chr4:39471494 [GRCh38]
Chr4:39473114 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.954+241G>C single nucleotide variant not provided [RCV000843248] Chr4:39471547 [GRCh38]
Chr4:39473167 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.884-60T>A single nucleotide variant not provided [RCV000829841] Chr4:39471176 [GRCh38]
Chr4:39472796 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.884-298_884-297insAACA insertion not provided [RCV000828912] Chr4:39470936..39470937 [GRCh38]
Chr4:39472556..39472557 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.738-243A>G single nucleotide variant not provided [RCV000833430] Chr4:39469776 [GRCh38]
Chr4:39471396 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.954+254T>C single nucleotide variant not provided [RCV000833431] Chr4:39471560 [GRCh38]
Chr4:39473180 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.954+260G>A single nucleotide variant not provided [RCV000833432] Chr4:39471566 [GRCh38]
Chr4:39473186 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.954+269G>A single nucleotide variant not provided [RCV000833446] Chr4:39471575 [GRCh38]
Chr4:39473195 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.955-65A>G single nucleotide variant not provided [RCV000834574] Chr4:39473035 [GRCh38]
Chr4:39474655 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.1066+37G>A single nucleotide variant not provided [RCV000829842] Chr4:39473248 [GRCh38]
Chr4:39474868 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.108G>T (p.Lys36Asn) single nucleotide variant Inborn genetic diseases [RCV004029135]|Lipoic acid synthetase deficiency [RCV000823167] Chr4:39460852 [GRCh38]
Chr4:39462472 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.218+29G>A single nucleotide variant not provided [RCV000830021] Chr4:39460991 [GRCh38]
Chr4:39462611 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.1049G>A (p.Arg350His) single nucleotide variant Lipoic acid synthetase deficiency [RCV001047014] Chr4:39473194 [GRCh38]
Chr4:39474814 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p14(chr4:39433497-39565064)x3 copy number gain not provided [RCV000849566] Chr4:39433497..39565064 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.1113C>A (p.Asp371Glu) single nucleotide variant Lipoic acid synthetase deficiency [RCV001209131] Chr4:39477109 [GRCh38]
Chr4:39478729 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.807G>T (p.Gln269His) single nucleotide variant Lipoic acid synthetase deficiency [RCV001208619] Chr4:39470088 [GRCh38]
Chr4:39471708 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p14(chr4:39423077-39573377)x3 copy number gain not provided [RCV000845714] Chr4:39423077..39573377 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.869A>T (p.Tyr290Phe) single nucleotide variant Lipoic acid synthetase deficiency [RCV001237915] Chr4:39470150 [GRCh38]
Chr4:39471770 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.266dup (p.Asn89fs) duplication Lipoic acid synthetase deficiency [RCV001223318] Chr4:39462238..39462239 [GRCh38]
Chr4:39463858..39463859 [GRCh37]
Chr4:4p14		 pathogenic
NM_006859.4(LIAS):c.212del (p.Gly71fs) deletion Lipoic acid synthetase deficiency [RCV001209580] Chr4:39460955 [GRCh38]
Chr4:39462575 [GRCh37]
Chr4:4p14		 pathogenic
NM_006859.4(LIAS):c.779G>A (p.Arg260His) single nucleotide variant Lipoic acid synthetase deficiency [RCV001207240] Chr4:39470060 [GRCh38]
Chr4:39471680 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.266A>T (p.Asn89Ile) single nucleotide variant Lipoic acid synthetase deficiency [RCV001214949] Chr4:39462243 [GRCh38]
Chr4:39463863 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.595T>C (p.Tyr199His) single nucleotide variant Lipoic acid synthetase deficiency [RCV001232566] Chr4:39465329 [GRCh38]
Chr4:39466949 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.643del (p.Asp215fs) deletion Lipoic acid synthetase deficiency [RCV001195900] Chr4:39467552 [GRCh38]
Chr4:39469172 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_006859.4(LIAS):c.14G>C (p.Cys5Ser) single nucleotide variant Lipoic acid synthetase deficiency [RCV001201438] Chr4:39459131 [GRCh38]
Chr4:39460751 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.446C>G (p.Ala149Gly) single nucleotide variant Lipoic acid synthetase deficiency [RCV001230201]|not provided [RCV003481004] Chr4:39465098 [GRCh38]
Chr4:39466718 [GRCh37]
Chr4:4p14		 uncertain significance
NC_000004.11:g.(?_39187326)_(39478735_?)dup duplication not provided [RCV003105278] Chr4:39187326..39478735 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.954+146C>T single nucleotide variant not provided [RCV001642122] Chr4:39471452 [GRCh38]
Chr4:39473072 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.954+35_954+37del deletion not provided [RCV001546317] Chr4:39471327..39471329 [GRCh38]
Chr4:39472947..39472949 [GRCh37]
Chr4:4p14		 likely benign
NC_000004.12:g.39458793C>A single nucleotide variant not provided [RCV001570697] Chr4:39458793 [GRCh38]
Chr4:39460413 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.394-27A>G single nucleotide variant not provided [RCV001655045] Chr4:39465019 [GRCh38]
Chr4:39466639 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.46-238dup duplication not provided [RCV001637483] Chr4:39460533..39460534 [GRCh38]
Chr4:39462153..39462154 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.738-234A>C single nucleotide variant not provided [RCV001648641] Chr4:39469785 [GRCh38]
Chr4:39471405 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.954+36_954+37del deletion not provided [RCV001643743] Chr4:39471327..39471328 [GRCh38]
Chr4:39472947..39472948 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.954+37del deletion not provided [RCV001620709] Chr4:39471327 [GRCh38]
Chr4:39472947 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.954+238del deletion not provided [RCV001674760] Chr4:39471518 [GRCh38]
Chr4:39473138 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.*211C>T single nucleotide variant not provided [RCV001718554] Chr4:39477326 [GRCh38]
Chr4:39478946 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.393+147del deletion not provided [RCV001547101] Chr4:39463752 [GRCh38]
Chr4:39465372 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.916T>C (p.Leu306=) single nucleotide variant Lipoic acid synthetase deficiency [RCV002540876] Chr4:39471268 [GRCh38]
Chr4:39472888 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.69C>T (p.Ser23=) single nucleotide variant Lipoic acid synthetase deficiency [RCV002540775] Chr4:39460813 [GRCh38]
Chr4:39462433 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.186T>C (p.Tyr62=) single nucleotide variant Lipoic acid synthetase deficiency [RCV001417847] Chr4:39460930 [GRCh38]
Chr4:39462550 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.488C>T (p.Thr163Ile) single nucleotide variant Lipoic acid synthetase deficiency [RCV001219128] Chr4:39465140 [GRCh38]
Chr4:39466760 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.433T>A (p.Ser145Thr) single nucleotide variant Lipoic acid synthetase deficiency [RCV001869372]|not provided [RCV000992275] Chr4:39465085 [GRCh38]
Chr4:39466705 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.386C>T (p.Thr129Met) single nucleotide variant Lipoic acid synthetase deficiency [RCV001227498] Chr4:39463598 [GRCh38]
Chr4:39465218 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.440dup (p.Thr148fs) duplication Lipoic acid synthetase deficiency [RCV001206495] Chr4:39465090..39465091 [GRCh38]
Chr4:39466710..39466711 [GRCh37]
Chr4:4p14		 pathogenic
NM_006859.4(LIAS):c.81G>A (p.Pro27=) single nucleotide variant Lipoic acid synthetase deficiency [RCV000935249] Chr4:39460825 [GRCh38]
Chr4:39462445 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.884-5T>A single nucleotide variant Inborn genetic diseases [RCV002542303]|Lipoic acid synthetase deficiency [RCV001434122] Chr4:39471231 [GRCh38]
Chr4:39472851 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NC_000004.12:g.39458952G>A single nucleotide variant not provided [RCV001621055] Chr4:39458952 [GRCh38]
Chr4:39460572 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.954+238dup duplication not provided [RCV001549430] Chr4:39471517..39471518 [GRCh38]
Chr4:39473137..39473138 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.954+226_954+238del deletion not provided [RCV001721832] Chr4:39471518..39471530 [GRCh38]
Chr4:39473138..39473150 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.1066+65C>T single nucleotide variant not provided [RCV001559113] Chr4:39473276 [GRCh38]
Chr4:39474896 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.312+168A>C single nucleotide variant not provided [RCV001576230] Chr4:39462457 [GRCh38]
Chr4:39464077 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.954+235_954+238dup duplication not provided [RCV001659073] Chr4:39471517..39471518 [GRCh38]
Chr4:39473137..39473138 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.737+150C>G single nucleotide variant not provided [RCV001617984] Chr4:39467796 [GRCh38]
Chr4:39469416 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.*97G>A single nucleotide variant not provided [RCV001651620] Chr4:39477212 [GRCh38]
Chr4:39478832 [GRCh37]
Chr4:4p14		 benign
NC_000004.12:g.39458870C>G single nucleotide variant not provided [RCV001720768] Chr4:39458870 [GRCh38]
Chr4:39460490 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.954+37dup duplication not provided [RCV001677493] Chr4:39471326..39471327 [GRCh38]
Chr4:39472946..39472947 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.*141T>C single nucleotide variant not provided [RCV001710022] Chr4:39477256 [GRCh38]
Chr4:39478876 [GRCh37]
Chr4:4p14		 benign
NC_000004.12:g.39458732C>G single nucleotide variant not provided [RCV001608209] Chr4:39458732 [GRCh38]
Chr4:39460352 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.394-6T>C single nucleotide variant Lipoic acid synthetase deficiency [RCV001036491] Chr4:39465040 [GRCh38]
Chr4:39466660 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.475G>A (p.Glu159Lys) single nucleotide variant Lipoic acid synthetase deficiency [RCV001174542] Chr4:39465127 [GRCh38]
Chr4:39466747 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.548A>G (p.Asp183Gly) single nucleotide variant Lipoic acid synthetase deficiency [RCV001070988] Chr4:39465200 [GRCh38]
Chr4:39466820 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.1067-294G>A single nucleotide variant not provided [RCV001614233] Chr4:39476769 [GRCh38]
Chr4:39478389 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.46-238del deletion not provided [RCV001724715] Chr4:39460534 [GRCh38]
Chr4:39462154 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.954+236T>C single nucleotide variant not provided [RCV001645036] Chr4:39471542 [GRCh38]
Chr4:39473162 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.609-184C>T single nucleotide variant not provided [RCV001648681] Chr4:39467334 [GRCh38]
Chr4:39468954 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.46-239_46-238dup duplication not provided [RCV001572411] Chr4:39460533..39460534 [GRCh38]
Chr4:39462153..39462154 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.348G>C (p.Glu116Asp) single nucleotide variant Lipoic acid synthetase deficiency [RCV001231307] Chr4:39463560 [GRCh38]
Chr4:39465180 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.701A>T (p.Tyr234Phe) single nucleotide variant Lipoic acid synthetase deficiency [RCV001203074] Chr4:39467610 [GRCh38]
Chr4:39469230 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_006859.4(LIAS):c.999A>G (p.Lys333=) single nucleotide variant LIAS-related disorder [RCV003918779]|Lipoic acid synthetase deficiency [RCV001204970] Chr4:39473144 [GRCh38]
Chr4:39474764 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_006859.4(LIAS):c.616A>G (p.Lys206Glu) single nucleotide variant Lipoic acid synthetase deficiency [RCV001232815] Chr4:39467525 [GRCh38]
Chr4:39469145 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.393+7C>G single nucleotide variant Lipoic acid synthetase deficiency [RCV001196141] Chr4:39463612 [GRCh38]
Chr4:39465232 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.56G>C (p.Arg19Thr) single nucleotide variant Lipoic acid synthetase deficiency [RCV001216725] Chr4:39460800 [GRCh38]
Chr4:39462420 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.664_665delinsTA (p.Ala222Ter) indel Lipoic acid synthetase deficiency [RCV001205828] Chr4:39467573..39467574 [GRCh38]
Chr4:39469193..39469194 [GRCh37]
Chr4:4p14		 pathogenic
NM_006859.4(LIAS):c.552T>G (p.Asp184Glu) single nucleotide variant Lipoic acid synthetase deficiency [RCV001216983] Chr4:39465286 [GRCh38]
Chr4:39466906 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.99dup (p.Lys34Ter) duplication not provided [RCV001008746] Chr4:39460842..39460843 [GRCh38]
Chr4:39462462..39462463 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_006859.4(LIAS):c.218+4A>G single nucleotide variant Lipoic acid synthetase deficiency [RCV001202183] Chr4:39460966 [GRCh38]
Chr4:39462586 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.894G>C (p.Glu298Asp) single nucleotide variant Lipoic acid synthetase deficiency [RCV001214501] Chr4:39471246 [GRCh38]
Chr4:39472866 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.589G>A (p.Val197Ile) single nucleotide variant Lipoic acid synthetase deficiency [RCV001215937] Chr4:39465323 [GRCh38]
Chr4:39466943 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p14(chr4:39116340-40293329)x3 copy number gain not provided [RCV001259839] Chr4:39116340..40293329 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.1063G>C (p.Ala355Pro) single nucleotide variant Lipoic acid synthetase deficiency [RCV001257440] Chr4:39473208 [GRCh38]
Chr4:39474828 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_006859.4(LIAS):c.587C>A (p.Thr196Asn) single nucleotide variant Lipoic acid synthetase deficiency [RCV001257439] Chr4:39465321 [GRCh38]
Chr4:39466941 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_006859.4(LIAS):c.988T>C (p.Tyr330His) single nucleotide variant Lipoic acid synthetase deficiency [RCV001350868] Chr4:39473133 [GRCh38]
Chr4:39474753 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.399G>A (p.Met133Ile) single nucleotide variant Lipoic acid synthetase deficiency [RCV001308548] Chr4:39465051 [GRCh38]
Chr4:39466671 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.1057T>C (p.Tyr353His) single nucleotide variant Lipoic acid synthetase deficiency [RCV001318448] Chr4:39473202 [GRCh38]
Chr4:39474822 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.947A>G (p.His316Arg) single nucleotide variant Lipoic acid synthetase deficiency [RCV001318898] Chr4:39471299 [GRCh38]
Chr4:39472919 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.242A>G (p.Lys81Arg) single nucleotide variant Lipoic acid synthetase deficiency [RCV001340652] Chr4:39462219 [GRCh38]
Chr4:39463839 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.1037G>A (p.Gly346Asp) single nucleotide variant Lipoic acid synthetase deficiency [RCV001302422] Chr4:39473182 [GRCh38]
Chr4:39474802 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.883G>A (p.Ala295Thr) single nucleotide variant Lipoic acid synthetase deficiency [RCV001300145] Chr4:39470164 [GRCh38]
Chr4:39471784 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.1116C>G (p.Leu372=) single nucleotide variant Lipoic acid synthetase deficiency [RCV001412518] Chr4:39477112 [GRCh38]
Chr4:39478732 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.1029T>C (p.Thr343=) single nucleotide variant Lipoic acid synthetase deficiency [RCV001414769] Chr4:39473174 [GRCh38]
Chr4:39474794 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.105A>G (p.Lys35=) single nucleotide variant Lipoic acid synthetase deficiency [RCV001421338] Chr4:39460849 [GRCh38]
Chr4:39462469 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.152G>A (p.Gly51Asp) single nucleotide variant Lipoic acid synthetase deficiency [RCV001331650] Chr4:39460896 [GRCh38]
Chr4:39462516 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.101A>G (p.Lys34Arg) single nucleotide variant Lipoic acid synthetase deficiency [RCV001304427] Chr4:39460845 [GRCh38]
Chr4:39462465 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.361G>A (p.Gly121Arg) single nucleotide variant Lipoic acid synthetase deficiency [RCV001372094] Chr4:39463573 [GRCh38]
Chr4:39465193 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.788A>G (p.Lys263Arg) single nucleotide variant Lipoic acid synthetase deficiency [RCV001343478] Chr4:39470069 [GRCh38]
Chr4:39471689 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.833T>C (p.Ile278Thr) single nucleotide variant Lipoic acid synthetase deficiency [RCV001295942] Chr4:39470114 [GRCh38]
Chr4:39471734 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.50T>C (p.Phe17Ser) single nucleotide variant Lipoic acid synthetase deficiency [RCV001321705] Chr4:39460794 [GRCh38]
Chr4:39462414 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.313G>A (p.Val105Ile) single nucleotide variant Lipoic acid synthetase deficiency [RCV001346619] Chr4:39463525 [GRCh38]
Chr4:39465145 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.1065A>T (p.Ala355=) single nucleotide variant Lipoic acid synthetase deficiency [RCV001324159] Chr4:39473210 [GRCh38]
Chr4:39474830 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_006859.4(LIAS):c.15C>G (p.Cys5Trp) single nucleotide variant Lipoic acid synthetase deficiency [RCV001324163] Chr4:39459132 [GRCh38]
Chr4:39460752 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.114C>G (p.Leu38=) single nucleotide variant Lipoic acid synthetase deficiency [RCV001394353]|not provided [RCV001312040] Chr4:39460858 [GRCh38]
Chr4:39462478 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.941G>C (p.Arg314Thr) single nucleotide variant Lipoic acid synthetase deficiency [RCV001372565] Chr4:39471293 [GRCh38]
Chr4:39472913 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.943C>T (p.Arg315Cys) single nucleotide variant Lipoic acid synthetase deficiency [RCV001339145] Chr4:39471295 [GRCh38]
Chr4:39472915 [GRCh37]
Chr4:4p14		 uncertain significance
NC_000004.11:g.(?_39459814)_(39528725_?)dup duplication Lipoic acid synthetase deficiency [RCV000708154]|not provided [RCV001308060] Chr4:39459814..39528725 [GRCh37]
Chr4:4p14		 uncertain significance|no classifications from unflagged records
NC_000004.11:g.(?_39460738)_(39478735_?)dup duplication Lipoic acid synthetase deficiency [RCV001344479] Chr4:39460738..39478735 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.354G>C (p.Trp118Cys) single nucleotide variant Lipoic acid synthetase deficiency [RCV001363774] Chr4:39463566 [GRCh38]
Chr4:39465186 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.163G>A (p.Asp55Asn) single nucleotide variant Lipoic acid synthetase deficiency [RCV001308506] Chr4:39460907 [GRCh38]
Chr4:39462527 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.754C>T (p.Arg252Trp) single nucleotide variant Lipoic acid synthetase deficiency [RCV001325309] Chr4:39470035 [GRCh38]
Chr4:39471655 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.917T>C (p.Leu306Ser) single nucleotide variant Lipoic acid synthetase deficiency [RCV001306068] Chr4:39471269 [GRCh38]
Chr4:39472889 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.24A>G (p.Ala8=) single nucleotide variant Lipoic acid synthetase deficiency [RCV001412800] Chr4:39459141 [GRCh38]
Chr4:39460761 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.46-5T>C single nucleotide variant Lipoic acid synthetase deficiency [RCV001395895] Chr4:39460785 [GRCh38]
Chr4:39462405 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.391A>G (p.Met131Val) single nucleotide variant Lipoic acid synthetase deficiency [RCV001349353] Chr4:39463603 [GRCh38]
Chr4:39465223 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.715del (p.Glu239fs) deletion not provided [RCV001357546] Chr4:39467624 [GRCh38]
Chr4:39469244 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_006859.4(LIAS):c.234A>G (p.Pro78=) single nucleotide variant Lipoic acid synthetase deficiency [RCV001475239] Chr4:39462211 [GRCh38]
Chr4:39463831 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.737+10T>G single nucleotide variant Lipoic acid synthetase deficiency [RCV001493373] Chr4:39467656 [GRCh38]
Chr4:39469276 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.218+43T>C single nucleotide variant not provided [RCV001581963] Chr4:39461005 [GRCh38]
Chr4:39462625 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.18G>A (p.Gly6=) single nucleotide variant LIAS-related disorder [RCV003938719]|Lipoic acid synthetase deficiency [RCV001417408] Chr4:39459135 [GRCh38]
Chr4:39460755 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.45+7G>A single nucleotide variant Lipoic acid synthetase deficiency [RCV001447213] Chr4:39459169 [GRCh38]
Chr4:39460789 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.405C>T (p.Asp135=) single nucleotide variant Lipoic acid synthetase deficiency [RCV001494172] Chr4:39465057 [GRCh38]
Chr4:39466677 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.375C>T (p.Thr125=) single nucleotide variant Lipoic acid synthetase deficiency [RCV001481748] Chr4:39463587 [GRCh38]
Chr4:39465207 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.884-4A>G single nucleotide variant Lipoic acid synthetase deficiency [RCV001502526] Chr4:39471232 [GRCh38]
Chr4:39472852 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.330A>T (p.Arg110=) single nucleotide variant Lipoic acid synthetase deficiency [RCV001502545] Chr4:39463542 [GRCh38]
Chr4:39465162 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.954+237_954+238dup duplication not provided [RCV001688570] Chr4:39471517..39471518 [GRCh38]
Chr4:39473137..39473138 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.954+236_954+238dup duplication not provided [RCV001674580] Chr4:39471517..39471518 [GRCh38]
Chr4:39473137..39473138 [GRCh37]
Chr4:4p14		 benign
NM_006859.4(LIAS):c.100A>T (p.Lys34Ter) single nucleotide variant Lipoic acid synthetase deficiency [RCV001390244]|not provided [RCV004720897] Chr4:39460844 [GRCh38]
Chr4:39462464 [GRCh37]
Chr4:4p14		 pathogenic|likely pathogenic
NM_006859.4(LIAS):c.705A>C (p.Ala235=) single nucleotide variant Lipoic acid synthetase deficiency [RCV001450764] Chr4:39467614 [GRCh38]
Chr4:39469234 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.550+9G>A single nucleotide variant Lipoic acid synthetase deficiency [RCV001502133] Chr4:39465211 [GRCh38]
Chr4:39466831 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.649C>T (p.Arg217Ter) single nucleotide variant Lipoic acid synthetase deficiency [RCV001386030] Chr4:39467558 [GRCh38]
Chr4:39469178 [GRCh37]
Chr4:4p14		 pathogenic
NM_006859.4(LIAS):c.884-3C>A single nucleotide variant Lipoic acid synthetase deficiency [RCV001963833] Chr4:39471233 [GRCh38]
Chr4:39472853 [GRCh37]
Chr4:4p14		 uncertain significance
NC_000004.12:g.39458888T>C single nucleotide variant not provided [RCV001732998] Chr4:39458888 [GRCh38]
Chr4:39460508 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.5C>G (p.Ser2Cys) single nucleotide variant Lipoic acid synthetase deficiency [RCV002008726] Chr4:39459122 [GRCh38]
Chr4:39460742 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.883+6G>T single nucleotide variant Lipoic acid synthetase deficiency [RCV001864680] Chr4:39470170 [GRCh38]
Chr4:39471790 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.425G>A (p.Arg142Lys) single nucleotide variant Lipoic acid synthetase deficiency [RCV001910443] Chr4:39465077 [GRCh38]
Chr4:39466697 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.738-20A>G single nucleotide variant Lipoic acid synthetase deficiency [RCV002040288] Chr4:39469999 [GRCh38]
Chr4:39471619 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_006859.4(LIAS):c.393+6G>T single nucleotide variant Lipoic acid synthetase deficiency [RCV001945211] Chr4:39463611 [GRCh38]
Chr4:39465231 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.329G>T (p.Arg110Leu) single nucleotide variant Lipoic acid synthetase deficiency [RCV001986051] Chr4:39463541 [GRCh38]
Chr4:39465161 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.10C>T (p.Arg4Cys) single nucleotide variant Lipoic acid synthetase deficiency [RCV001945680] Chr4:39459127 [GRCh38]
Chr4:39460747 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p14(chr4:39205299-39489677)x3 copy number gain not provided [RCV001834225] Chr4:39205299..39489677 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.1012C>T (p.Leu338Phe) single nucleotide variant Lipoic acid synthetase deficiency [RCV001910577] Chr4:39473157 [GRCh38]
Chr4:39474777 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.419G>A (p.Gly140Asp) single nucleotide variant Lipoic acid synthetase deficiency [RCV002007976] Chr4:39465071 [GRCh38]
Chr4:39466691 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.706C>T (p.His236Tyr) single nucleotide variant Lipoic acid synthetase deficiency [RCV002004724] Chr4:39467615 [GRCh38]
Chr4:39469235 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.703G>C (p.Ala235Pro) single nucleotide variant Lipoic acid synthetase deficiency [RCV001965914] Chr4:39467612 [GRCh38]
Chr4:39469232 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.709A>G (p.Asn237Asp) single nucleotide variant Lipoic acid synthetase deficiency [RCV001906145] Chr4:39467618 [GRCh38]
Chr4:39469238 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.789A>G (p.Lys263=) single nucleotide variant Lipoic acid synthetase deficiency [RCV001961790] Chr4:39470070 [GRCh38]
Chr4:39471690 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_006859.4(LIAS):c.70C>G (p.Pro24Ala) single nucleotide variant Lipoic acid synthetase deficiency [RCV001963443] Chr4:39460814 [GRCh38]
Chr4:39462434 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.802G>A (p.Val268Ile) single nucleotide variant Lipoic acid synthetase deficiency [RCV002018926] Chr4:39470083 [GRCh38]
Chr4:39471703 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.955-4C>G single nucleotide variant Lipoic acid synthetase deficiency [RCV002000270] Chr4:39473096 [GRCh38]
Chr4:39474716 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NC_000004.11:g.(?_38765721)_(41750627_?)dup duplication Lipoic acid synthetase deficiency [RCV003107887] Chr4:38765721..41750627 [GRCh37]
Chr4:4p14-13		 uncertain significance
NM_006859.4(LIAS):c.512G>A (p.Gly171Asp) single nucleotide variant Lipoic acid synthetase deficiency [RCV002029601] Chr4:39465164 [GRCh38]
Chr4:39466784 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.954+3A>G single nucleotide variant Lipoic acid synthetase deficiency [RCV001937679] Chr4:39471309 [GRCh38]
Chr4:39472929 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.158T>A (p.Leu53His) single nucleotide variant Lipoic acid synthetase deficiency [RCV001974366] Chr4:39460902 [GRCh38]
Chr4:39462522 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.1048C>T (p.Arg350Cys) single nucleotide variant Lipoic acid synthetase deficiency [RCV001936576] Chr4:39473193 [GRCh38]
Chr4:39474813 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.44G>A (p.Arg15Gln) single nucleotide variant Lipoic acid synthetase deficiency [RCV001903352] Chr4:39459161 [GRCh38]
Chr4:39460781 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.867A>G (p.Val289=) single nucleotide variant Lipoic acid synthetase deficiency [RCV001876781] Chr4:39470148 [GRCh38]
Chr4:39471768 [GRCh37]
Chr4:4p14		 likely benign|uncertain significance
NM_006859.4(LIAS):c.73G>C (p.Val25Leu) single nucleotide variant Lipoic acid synthetase deficiency [RCV001917134] Chr4:39460817 [GRCh38]
Chr4:39462437 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.954+2dup duplication Lipoic acid synthetase deficiency [RCV001956698] Chr4:39471307..39471308 [GRCh38]
Chr4:39472927..39472928 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.520del (p.Tyr174fs) deletion Lipoic acid synthetase deficiency [RCV001954950] Chr4:39465171 [GRCh38]
Chr4:39466791 [GRCh37]
Chr4:4p14		 pathogenic
NM_006859.4(LIAS):c.17G>A (p.Gly6Glu) single nucleotide variant Lipoic acid synthetase deficiency [RCV002031395] Chr4:39459134 [GRCh38]
Chr4:39460754 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.485A>G (p.Asn162Ser) single nucleotide variant Lipoic acid synthetase deficiency [RCV001923241] Chr4:39465137 [GRCh38]
Chr4:39466757 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.1114C>T (p.Leu372Phe) single nucleotide variant Lipoic acid synthetase deficiency [RCV001993865] Chr4:39477110 [GRCh38]
Chr4:39478730 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.884-1G>A single nucleotide variant Lipoic acid synthetase deficiency [RCV002031886] Chr4:39471235 [GRCh38]
Chr4:39472855 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_006859.4(LIAS):c.465_466delinsTT (p.Asp156Tyr) indel Lipoic acid synthetase deficiency [RCV001961116] Chr4:39465117..39465118 [GRCh38]
Chr4:39466737..39466738 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.44G>C (p.Arg15Pro) single nucleotide variant Lipoic acid synthetase deficiency [RCV001972059] Chr4:39459161 [GRCh38]
Chr4:39460781 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.884C>T (p.Ala295Val) single nucleotide variant Lipoic acid synthetase deficiency [RCV002050141] Chr4:39471236 [GRCh38]
Chr4:39472856 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.515T>C (p.Leu172Pro) single nucleotide variant Lipoic acid synthetase deficiency [RCV002012408] Chr4:39465167 [GRCh38]
Chr4:39466787 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.393G>A (p.Met131Ile) single nucleotide variant Lipoic acid synthetase deficiency [RCV002013872] Chr4:39463605 [GRCh38]
Chr4:39465225 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.999dup (p.Val334fs) duplication Lipoic acid synthetase deficiency [RCV002035361] Chr4:39473139..39473140 [GRCh38]
Chr4:39474759..39474760 [GRCh37]
Chr4:4p14		 pathogenic
NM_006859.4(LIAS):c.619A>G (p.Ile207Val) single nucleotide variant Lipoic acid synthetase deficiency [RCV001904425] Chr4:39467528 [GRCh38]
Chr4:39469148 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.359G>A (p.Gly120Asp) single nucleotide variant Lipoic acid synthetase deficiency [RCV001883948] Chr4:39463571 [GRCh38]
Chr4:39465191 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.1A>C (p.Met1Leu) single nucleotide variant Lipoic acid synthetase deficiency [RCV001981484] Chr4:39459118 [GRCh38]
Chr4:39460738 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.638C>T (p.Thr213Ile) single nucleotide variant Lipoic acid synthetase deficiency [RCV001933071] Chr4:39467547 [GRCh38]
Chr4:39469167 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.19G>A (p.Asp7Asn) single nucleotide variant Lipoic acid synthetase deficiency [RCV002033203] Chr4:39459136 [GRCh38]
Chr4:39460756 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.25G>T (p.Ala9Ser) single nucleotide variant Lipoic acid synthetase deficiency [RCV001901970]|not provided [RCV004762208] Chr4:39459142 [GRCh38]
Chr4:39460762 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.38G>A (p.Gly13Glu) single nucleotide variant Lipoic acid synthetase deficiency [RCV001923303] Chr4:39459155 [GRCh38]
Chr4:39460775 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.849C>A (p.Gly283=) single nucleotide variant Lipoic acid synthetase deficiency [RCV002090796] Chr4:39470130 [GRCh38]
Chr4:39471750 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.609-6C>T single nucleotide variant Lipoic acid synthetase deficiency [RCV002170335] Chr4:39467512 [GRCh38]
Chr4:39469132 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.609-19T>C single nucleotide variant Lipoic acid synthetase deficiency [RCV002205223] Chr4:39467499 [GRCh38]
Chr4:39469119 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.144T>C (p.Phe48=) single nucleotide variant Lipoic acid synthetase deficiency [RCV002207483] Chr4:39460888 [GRCh38]
Chr4:39462508 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.138A>G (p.Gln46=) single nucleotide variant Lipoic acid synthetase deficiency [RCV002109342] Chr4:39460882 [GRCh38]
Chr4:39462502 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.378C>T (p.Ala126=) single nucleotide variant Lipoic acid synthetase deficiency [RCV002107051] Chr4:39463590 [GRCh38]
Chr4:39465210 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.883+17A>G single nucleotide variant Lipoic acid synthetase deficiency [RCV002107753] Chr4:39470181 [GRCh38]
Chr4:39471801 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.462A>C (p.Pro154=) single nucleotide variant Lipoic acid synthetase deficiency [RCV002129949] Chr4:39465114 [GRCh38]
Chr4:39466734 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.551-19T>C single nucleotide variant Lipoic acid synthetase deficiency [RCV002209865] Chr4:39465266 [GRCh38]
Chr4:39466886 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.737+11G>A single nucleotide variant Lipoic acid synthetase deficiency [RCV002094855] Chr4:39467657 [GRCh38]
Chr4:39469277 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.738-9G>A single nucleotide variant Lipoic acid synthetase deficiency [RCV002096598] Chr4:39470010 [GRCh38]
Chr4:39471630 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.1067-11T>C single nucleotide variant Lipoic acid synthetase deficiency [RCV002149024] Chr4:39477052 [GRCh38]
Chr4:39478672 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.313-12T>G single nucleotide variant Lipoic acid synthetase deficiency [RCV002149665] Chr4:39463513 [GRCh38]
Chr4:39465133 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.597T>C (p.Tyr199=) single nucleotide variant Lipoic acid synthetase deficiency [RCV002114855] Chr4:39465331 [GRCh38]
Chr4:39466951 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.900T>C (p.Asp300=) single nucleotide variant Lipoic acid synthetase deficiency [RCV002149915] Chr4:39471252 [GRCh38]
Chr4:39472872 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.608+13G>A single nucleotide variant Lipoic acid synthetase deficiency [RCV002197719] Chr4:39465355 [GRCh38]
Chr4:39466975 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.1066+20A>G single nucleotide variant Lipoic acid synthetase deficiency [RCV002180535] Chr4:39473231 [GRCh38]
Chr4:39474851 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.737+8C>T single nucleotide variant Lipoic acid synthetase deficiency [RCV002182813] Chr4:39467654 [GRCh38]
Chr4:39469274 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.45+20G>T single nucleotide variant Lipoic acid synthetase deficiency [RCV002179210] Chr4:39459182 [GRCh38]
Chr4:39460802 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.46-16T>C single nucleotide variant Lipoic acid synthetase deficiency [RCV002135817] Chr4:39460774 [GRCh38]
Chr4:39462394 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.955-13T>G single nucleotide variant Lipoic acid synthetase deficiency [RCV002138535] Chr4:39473087 [GRCh38]
Chr4:39474707 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.46-17A>G single nucleotide variant Lipoic acid synthetase deficiency [RCV002201058] Chr4:39460773 [GRCh38]
Chr4:39462393 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.883+15_883+56del deletion Lipoic acid synthetase deficiency [RCV002100166] Chr4:39470176..39470217 [GRCh38]
Chr4:39471796..39471837 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.954+20C>T single nucleotide variant Lipoic acid synthetase deficiency [RCV002082487] Chr4:39471326 [GRCh38]
Chr4:39472946 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.312+17T>G single nucleotide variant Lipoic acid synthetase deficiency [RCV002202819] Chr4:39462306 [GRCh38]
Chr4:39463926 [GRCh37]
Chr4:4p14		 likely benign
NC_000004.11:g.(?_39460510)_(39460802_?)dup duplication Lipoic acid synthetase deficiency [RCV003109573] Chr4:39460510..39460802 [GRCh37]
Chr4:4p14		 uncertain significance
NC_000004.11:g.(?_38765721)_(39478735_?)dup duplication not provided [RCV003113872] Chr4:38765721..39478735 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_006859.4(LIAS):c.394-5T>C single nucleotide variant not provided [RCV002474345] Chr4:39465041 [GRCh38]
Chr4:39466661 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.231T>C (p.Pro77=) single nucleotide variant Lipoic acid synthetase deficiency [RCV002838168] Chr4:39462208 [GRCh38]
Chr4:39463828 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.609-13C>T single nucleotide variant Lipoic acid synthetase deficiency [RCV002775591] Chr4:39467505 [GRCh38]
Chr4:39469125 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.28C>T (p.Arg10Cys) single nucleotide variant Lipoic acid synthetase deficiency [RCV002975317] Chr4:39459145 [GRCh38]
Chr4:39460765 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.222A>C (p.Leu74Phe) single nucleotide variant Lipoic acid synthetase deficiency [RCV002727022] Chr4:39462199 [GRCh38]
Chr4:39463819 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.827C>T (p.Thr276Ile) single nucleotide variant Lipoic acid synthetase deficiency [RCV002991734] Chr4:39470108 [GRCh38]
Chr4:39471728 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.120G>A (p.Gln40=) single nucleotide variant Lipoic acid synthetase deficiency [RCV002861645] Chr4:39460864 [GRCh38]
Chr4:39462484 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.596A>G (p.Tyr199Cys) single nucleotide variant Lipoic acid synthetase deficiency [RCV003015082] Chr4:39465330 [GRCh38]
Chr4:39466950 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.1068T>G (p.Gly356=) single nucleotide variant Lipoic acid synthetase deficiency [RCV002839472] Chr4:39477064 [GRCh38]
Chr4:39478684 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.608+7A>C single nucleotide variant Lipoic acid synthetase deficiency [RCV002819518] Chr4:39465349 [GRCh38]
Chr4:39466969 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.1067-15C>G single nucleotide variant Lipoic acid synthetase deficiency [RCV002996743] Chr4:39477048 [GRCh38]
Chr4:39478668 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.550+11C>T single nucleotide variant Lipoic acid synthetase deficiency [RCV002750753] Chr4:39465213 [GRCh38]
Chr4:39466833 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.32C>G (p.Thr11Ser) single nucleotide variant Inborn genetic diseases [RCV002732295]|Lipoic acid synthetase deficiency [RCV003108173] Chr4:39459149 [GRCh38]
Chr4:39460769 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.1066+12T>C single nucleotide variant Lipoic acid synthetase deficiency [RCV003012263] Chr4:39473223 [GRCh38]
Chr4:39474843 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.218+14T>A single nucleotide variant Lipoic acid synthetase deficiency [RCV002819417] Chr4:39460976 [GRCh38]
Chr4:39462596 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.1098A>G (p.Lys366=) single nucleotide variant Lipoic acid synthetase deficiency [RCV003039420] Chr4:39477094 [GRCh38]
Chr4:39478714 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.359_364del (p.Gly120_Gly121del) deletion Lipoic acid synthetase deficiency [RCV002914006] Chr4:39463567..39463572 [GRCh38]
Chr4:39465187..39465192 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.975T>C (p.Pro325=) single nucleotide variant Lipoic acid synthetase deficiency [RCV002867268] Chr4:39473120 [GRCh38]
Chr4:39474740 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.955-11T>C single nucleotide variant Lipoic acid synthetase deficiency [RCV002843968] Chr4:39473089 [GRCh38]
Chr4:39474709 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.925T>C (p.Tyr309His) single nucleotide variant Lipoic acid synthetase deficiency [RCV002795717] Chr4:39471277 [GRCh38]
Chr4:39472897 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.58T>C (p.Tyr20His) single nucleotide variant Lipoic acid synthetase deficiency [RCV003078103] Chr4:39460802 [GRCh38]
Chr4:39462422 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.341T>C (p.Ile114Thr) single nucleotide variant Lipoic acid synthetase deficiency [RCV003002749] Chr4:39463553 [GRCh38]
Chr4:39465173 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.566G>T (p.Gly189Val) single nucleotide variant Inborn genetic diseases [RCV003001038] Chr4:39465300 [GRCh38]
Chr4:39466920 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.955-3T>G single nucleotide variant Lipoic acid synthetase deficiency [RCV003020520] Chr4:39473097 [GRCh38]
Chr4:39474717 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.1113C>T (p.Asp371=) single nucleotide variant Lipoic acid synthetase deficiency [RCV002824619] Chr4:39477109 [GRCh38]
Chr4:39478729 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.770A>G (p.Gln257Arg) single nucleotide variant Lipoic acid synthetase deficiency [RCV002820422] Chr4:39470051 [GRCh38]
Chr4:39471671 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.410G>A (p.Cys137Tyr) single nucleotide variant Lipoic acid synthetase deficiency [RCV002914014] Chr4:39465062 [GRCh38]
Chr4:39466682 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.315A>G (p.Val105=) single nucleotide variant Lipoic acid synthetase deficiency [RCV002695608] Chr4:39463527 [GRCh38]
Chr4:39465147 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.1066+16G>A single nucleotide variant Lipoic acid synthetase deficiency [RCV003081206] Chr4:39473227 [GRCh38]
Chr4:39474847 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.130del (p.Asp44fs) deletion Lipoic acid synthetase deficiency [RCV002820952] Chr4:39460874 [GRCh38]
Chr4:39462494 [GRCh37]
Chr4:4p14		 pathogenic
NM_006859.4(LIAS):c.287C>G (p.Thr96Ser) single nucleotide variant Lipoic acid synthetase deficiency [RCV002846637] Chr4:39462264 [GRCh38]
Chr4:39463884 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.1112A>T (p.Asp371Val) single nucleotide variant Lipoic acid synthetase deficiency [RCV003085791] Chr4:39477108 [GRCh38]
Chr4:39478728 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.166A>C (p.Arg56=) single nucleotide variant Lipoic acid synthetase deficiency [RCV003005724] Chr4:39460910 [GRCh38]
Chr4:39462530 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.737+6dup duplication Lipoic acid synthetase deficiency [RCV003025625] Chr4:39467651..39467652 [GRCh38]
Chr4:39469271..39469272 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.748G>A (p.Asp250Asn) single nucleotide variant Lipoic acid synthetase deficiency [RCV003007994] Chr4:39470029 [GRCh38]
Chr4:39471649 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.954+20C>G single nucleotide variant Lipoic acid synthetase deficiency [RCV002894792] Chr4:39471326 [GRCh38]
Chr4:39472946 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.107dup (p.Glu37fs) duplication Lipoic acid synthetase deficiency [RCV003084432] Chr4:39460843..39460844 [GRCh38]
Chr4:39462463..39462464 [GRCh37]
Chr4:4p14		 pathogenic
NM_006859.4(LIAS):c.714A>G (p.Val238=) single nucleotide variant Lipoic acid synthetase deficiency [RCV002710310] Chr4:39467623 [GRCh38]
Chr4:39469243 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.1066+19C>T single nucleotide variant Lipoic acid synthetase deficiency [RCV002851850] Chr4:39473230 [GRCh38]
Chr4:39474850 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.4T>C (p.Ser2Pro) single nucleotide variant Lipoic acid synthetase deficiency [RCV003025259] Chr4:39459121 [GRCh38]
Chr4:39460741 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.883+10T>C single nucleotide variant Lipoic acid synthetase deficiency [RCV002700186] Chr4:39470174 [GRCh38]
Chr4:39471794 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.801G>A (p.Lys267=) single nucleotide variant Lipoic acid synthetase deficiency [RCV002893848] Chr4:39470082 [GRCh38]
Chr4:39471702 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.45+18C>T single nucleotide variant Lipoic acid synthetase deficiency [RCV002982947] Chr4:39459180 [GRCh38]
Chr4:39460800 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.1066+18G>T single nucleotide variant Lipoic acid synthetase deficiency [RCV002700977] Chr4:39473229 [GRCh38]
Chr4:39474849 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.604G>A (p.Glu202Lys) single nucleotide variant Lipoic acid synthetase deficiency [RCV003086248] Chr4:39465338 [GRCh38]
Chr4:39466958 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.219-6C>T single nucleotide variant Lipoic acid synthetase deficiency [RCV002938517] Chr4:39462190 [GRCh38]
Chr4:39463810 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.313-6A>G single nucleotide variant Lipoic acid synthetase deficiency [RCV003090354] Chr4:39463519 [GRCh38]
Chr4:39465139 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.694G>C (p.Asp232His) single nucleotide variant Lipoic acid synthetase deficiency [RCV002716275] Chr4:39467603 [GRCh38]
Chr4:39469223 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.1096A>C (p.Lys366Gln) single nucleotide variant Lipoic acid synthetase deficiency [RCV002806358] Chr4:39477092 [GRCh38]
Chr4:39478712 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.963A>G (p.Glu321=) single nucleotide variant Lipoic acid synthetase deficiency [RCV002770137] Chr4:39473108 [GRCh38]
Chr4:39474728 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.170G>C (p.Ser57Thr) single nucleotide variant Lipoic acid synthetase deficiency [RCV003060582] Chr4:39460914 [GRCh38]
Chr4:39462534 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.499A>G (p.Ile167Val) single nucleotide variant Lipoic acid synthetase deficiency [RCV002578123] Chr4:39465151 [GRCh38]
Chr4:39466771 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.566_567delinsTT (p.Gly189Val) indel Lipoic acid synthetase deficiency [RCV002650509]|not provided [RCV003149039] Chr4:39465300..39465301 [GRCh38]
Chr4:39466920..39466921 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.632G>T (p.Cys211Phe) single nucleotide variant Lipoic acid synthetase deficiency [RCV002811770] Chr4:39467541 [GRCh38]
Chr4:39469161 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.313-19C>T single nucleotide variant Lipoic acid synthetase deficiency [RCV002833122] Chr4:39463506 [GRCh38]
Chr4:39465126 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.955-7A>T single nucleotide variant Lipoic acid synthetase deficiency [RCV002807038] Chr4:39473093 [GRCh38]
Chr4:39474713 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.673A>G (p.Lys225Glu) single nucleotide variant Lipoic acid synthetase deficiency [RCV002676135] Chr4:39467582 [GRCh38]
Chr4:39469202 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.313-14C>T single nucleotide variant Lipoic acid synthetase deficiency [RCV002651157] Chr4:39463511 [GRCh38]
Chr4:39465131 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.26C>T (p.Ala9Val) single nucleotide variant Lipoic acid synthetase deficiency [RCV002635882] Chr4:39459143 [GRCh38]
Chr4:39460763 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.275A>C (p.Lys92Thr) single nucleotide variant Lipoic acid synthetase deficiency [RCV003052326] Chr4:39462252 [GRCh38]
Chr4:39463872 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.5C>T (p.Ser2Phe) single nucleotide variant Lipoic acid synthetase deficiency [RCV003092429] Chr4:39459122 [GRCh38]
Chr4:39460742 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.790C>T (p.His264Tyr) single nucleotide variant Lipoic acid synthetase deficiency [RCV002607496] Chr4:39470071 [GRCh38]
Chr4:39471691 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.924A>G (p.Gln308=) single nucleotide variant Lipoic acid synthetase deficiency [RCV002583784] Chr4:39471276 [GRCh38]
Chr4:39472896 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.511G>A (p.Gly171Ser) single nucleotide variant Lipoic acid synthetase deficiency [RCV002583825] Chr4:39465163 [GRCh38]
Chr4:39466783 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.659T>C (p.Leu220Pro) single nucleotide variant Lipoic acid synthetase deficiency [RCV002676845] Chr4:39467568 [GRCh38]
Chr4:39469188 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.191G>A (p.Gly64Glu) single nucleotide variant Lipoic acid synthetase deficiency [RCV003073421] Chr4:39460935 [GRCh38]
Chr4:39462555 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.598T>G (p.Leu200Val) single nucleotide variant not provided [RCV003221627] Chr4:39465332 [GRCh38]
Chr4:39466952 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh37/hg19 4p14(chr4:39245868-39700010)x3 copy number gain not provided [RCV003223174] Chr4:39245868..39700010 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.669A>G (p.Ile223Met) single nucleotide variant Inborn genetic diseases [RCV003212370] Chr4:39467578 [GRCh38]
Chr4:39469198 [GRCh37]
Chr4:4p14		 uncertain significance
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3 copy number gain Neurodevelopmental disorder [RCV003327612] Chr4:2904667..42963232 [GRCh38]
Chr4:4p16.3-13		 pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11		 pathogenic
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 pathogenic
NM_006859.4(LIAS):c.93G>A (p.Leu31=) single nucleotide variant Lipoic acid synthetase deficiency [RCV003642435] Chr4:39460837 [GRCh38]
Chr4:39462457 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.480del (p.Tyr161fs) deletion Lipoic acid synthetase deficiency [RCV003643306] Chr4:39465130 [GRCh38]
Chr4:39466750 [GRCh37]
Chr4:4p14		 pathogenic
NM_006859.4(LIAS):c.218+19T>C single nucleotide variant Lipoic acid synthetase deficiency [RCV003529628] Chr4:39460981 [GRCh38]
Chr4:39462601 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.954+11C>A single nucleotide variant Lipoic acid synthetase deficiency [RCV003529732] Chr4:39471317 [GRCh38]
Chr4:39472937 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.218+7_218+13dup duplication Lipoic acid synthetase deficiency [RCV003529744] Chr4:39460964..39460965 [GRCh38]
Chr4:39462584..39462585 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.367_389dup (p.Leu132fs) duplication Lipoic acid synthetase deficiency [RCV003644242] Chr4:39463578..39463579 [GRCh38]
Chr4:39465198..39465199 [GRCh37]
Chr4:4p14		 pathogenic
NM_006859.4(LIAS):c.588C>T (p.Thr196=) single nucleotide variant Lipoic acid synthetase deficiency [RCV003529366] Chr4:39465322 [GRCh38]
Chr4:39466942 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.291G>A (p.Leu97=) single nucleotide variant Lipoic acid synthetase deficiency [RCV003529403] Chr4:39462268 [GRCh38]
Chr4:39463888 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.45+19G>T single nucleotide variant Lipoic acid synthetase deficiency [RCV003644110] Chr4:39459181 [GRCh38]
Chr4:39460801 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.393+17C>T single nucleotide variant Lipoic acid synthetase deficiency [RCV003529686] Chr4:39463622 [GRCh38]
Chr4:39465242 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.1041T>C (p.Pro347=) single nucleotide variant Lipoic acid synthetase deficiency [RCV003642788] Chr4:39473186 [GRCh38]
Chr4:39474806 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.838T>C (p.Leu280=) single nucleotide variant Lipoic acid synthetase deficiency [RCV003644284] Chr4:39470119 [GRCh38]
Chr4:39471739 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.550+16T>C single nucleotide variant Lipoic acid synthetase deficiency [RCV003528927] Chr4:39465218 [GRCh38]
Chr4:39466838 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.954+9A>G single nucleotide variant Lipoic acid synthetase deficiency [RCV003528931] Chr4:39471315 [GRCh38]
Chr4:39472935 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.725C>G (p.Pro242Arg) single nucleotide variant Lipoic acid synthetase deficiency [RCV003528955] Chr4:39467634 [GRCh38]
Chr4:39469254 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.1118A>G (p.Ter373=) single nucleotide variant Lipoic acid synthetase deficiency [RCV003643175] Chr4:39477114 [GRCh38]
Chr4:39478734 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.600A>G (p.Leu200=) single nucleotide variant Lipoic acid synthetase deficiency [RCV003527742] Chr4:39465334 [GRCh38]
Chr4:39466954 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.737+20A>T single nucleotide variant Lipoic acid synthetase deficiency [RCV003529433] Chr4:39467666 [GRCh38]
Chr4:39469286 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.1023T>C (p.His341=) single nucleotide variant Lipoic acid synthetase deficiency [RCV003529621] Chr4:39473168 [GRCh38]
Chr4:39474788 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.313-7C>T single nucleotide variant Lipoic acid synthetase deficiency [RCV003643680] Chr4:39463518 [GRCh38]
Chr4:39465138 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.292C>A (p.Arg98=) single nucleotide variant Lipoic acid synthetase deficiency [RCV003529679] Chr4:39462269 [GRCh38]
Chr4:39463889 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.218+1G>A single nucleotide variant Lipoic acid synthetase deficiency [RCV003643724] Chr4:39460963 [GRCh38]
Chr4:39462583 [GRCh37]
Chr4:4p14		 likely pathogenic
NM_006859.4(LIAS):c.46-13A>T single nucleotide variant Lipoic acid synthetase deficiency [RCV003643779] Chr4:39460777 [GRCh38]
Chr4:39462397 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.45+10G>A single nucleotide variant Lipoic acid synthetase deficiency [RCV003643463] Chr4:39459172 [GRCh38]
Chr4:39460792 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.312+8G>T single nucleotide variant Lipoic acid synthetase deficiency [RCV003643322] Chr4:39462297 [GRCh38]
Chr4:39463917 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.218+15G>A single nucleotide variant Lipoic acid synthetase deficiency [RCV003643986] Chr4:39460977 [GRCh38]
Chr4:39462597 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.954+18dup duplication Lipoic acid synthetase deficiency [RCV003643872] Chr4:39471321..39471322 [GRCh38]
Chr4:39472941..39472942 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.280A>T (p.Lys94Ter) single nucleotide variant Lipoic acid synthetase deficiency [RCV003644071] Chr4:39462257 [GRCh38]
Chr4:39463877 [GRCh37]
Chr4:4p14		 pathogenic
NM_006859.4(LIAS):c.834A>C (p.Ile278=) single nucleotide variant Lipoic acid synthetase deficiency [RCV003642701] Chr4:39470115 [GRCh38]
Chr4:39471735 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.342T>C (p.Ile114=) single nucleotide variant Lipoic acid synthetase deficiency [RCV003642780] Chr4:39463554 [GRCh38]
Chr4:39465174 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.550+12A>G single nucleotide variant Lipoic acid synthetase deficiency [RCV003643204] Chr4:39465214 [GRCh38]
Chr4:39466834 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.45+12G>A single nucleotide variant Lipoic acid synthetase deficiency [RCV003643139] Chr4:39459174 [GRCh38]
Chr4:39460794 [GRCh37]
Chr4:4p14		 likely benign
NM_006859.4(LIAS):c.551-16A>T single nucleotide variant Lipoic acid synthetase deficiency [RCV003844315] Chr4:39465269 [GRCh38]
Chr4:39466889 [GRCh37]
Chr4:4p14		 likely benign
NC_000004.11:g.(?_39435810)_(39478735_?)dup duplication Lipoic acid synthetase deficiency [RCV004580775] Chr4:39435810..39478735 [GRCh37]
Chr4:4p14		 uncertain significance
NC_000004.11:g.(?_39408570)_(39478735_?)dup duplication not provided [RCV004580813] Chr4:39408570..39478735 [GRCh37]
Chr4:4p14		 uncertain significance
NM_006859.4(LIAS):c.692T>G (p.Leu231Ter) single nucleotide variant Inborn genetic diseases [RCV004633976] Chr4:39467601 [GRCh38]
Chr4:39469221 [GRCh37]
Chr4:4p14		 pathogenic
NM_006859.4(LIAS):c.608+9T>G single nucleotide variant LIAS-related disorder [RCV004731901] Chr4:39465351 [GRCh38]
Chr4:39466971 [GRCh37]
Chr4:4p14		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1457
Count of miRNA genes:599
Interacting mature miRNAs:662
Transcripts:ENST00000261434, ENST00000340169, ENST00000381846, ENST00000424936, ENST00000509519, ENST00000513731, ENST00000515061
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406987490GWAS636466_Hlevel of beta-klotho in blood serum QTL GWAS636466 (human)2e-19level of beta-klotho in blood serum43947530639475307Human
406923283GWAS572259_Hbladder exstrophy QTL GWAS572259 (human)0.000008bladder exstrophy43946041039460411Human

Markers in Region
LIAS_9211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37439,478,711 - 39,479,271UniSTSGRCh37
Build 36439,155,106 - 39,155,666RGDNCBI36
Celera439,916,501 - 39,917,061RGD
HuRef438,803,713 - 38,804,273UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS


Expression

RNA-SEQ Expression

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

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_194451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC021148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI373464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ224162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL528262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV729111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF434814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC916357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC916375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000261434   ⟹   ENSP00000261434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl439,459,087 - 39,477,532 (+)Ensembl
Ensembl Acc Id: ENST00000340169   ⟹   ENSP00000340676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl439,459,109 - 39,477,584 (+)Ensembl
Ensembl Acc Id: ENST00000381846   ⟹   ENSP00000371270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl439,459,063 - 39,477,648 (+)Ensembl
Ensembl Acc Id: ENST00000424936   ⟹   ENSP00000491086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl439,459,058 - 39,464,163 (+)Ensembl
Ensembl Acc Id: ENST00000509519   ⟹   ENSP00000492833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl439,459,045 - 39,464,238 (+)Ensembl
Ensembl Acc Id: ENST00000513731   ⟹   ENSP00000425580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl439,459,066 - 39,477,160 (+)Ensembl
Ensembl Acc Id: ENST00000515061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl439,459,120 - 39,466,072 (+)Ensembl
Ensembl Acc Id: ENST00000638422   ⟹   ENSP00000491001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl439,459,045 - 39,477,390 (+)Ensembl
Ensembl Acc Id: ENST00000638430   ⟹   ENSP00000491831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl439,460,873 - 39,477,536 (+)Ensembl
Ensembl Acc Id: ENST00000638451   ⟹   ENSP00000491681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl439,459,109 - 39,477,584 (+)Ensembl
Ensembl Acc Id: ENST00000638816   ⟹   ENSP00000492482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl439,460,874 - 39,473,106 (+)Ensembl
Ensembl Acc Id: ENST00000638837   ⟹   ENSP00000492038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl439,459,102 - 39,467,324 (+)Ensembl
Ensembl Acc Id: ENST00000639422   ⟹   ENSP00000491899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl439,459,093 - 39,477,336 (+)Ensembl
Ensembl Acc Id: ENST00000639475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl439,469,229 - 39,473,653 (+)Ensembl
Ensembl Acc Id: ENST00000639614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl439,470,548 - 39,479,300 (+)Ensembl
Ensembl Acc Id: ENST00000640349   ⟹   ENSP00000491477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl439,459,114 - 39,477,075 (+)Ensembl
Ensembl Acc Id: ENST00000640381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl439,459,058 - 39,477,414 (+)Ensembl
Ensembl Acc Id: ENST00000640489   ⟹   ENSP00000492540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl439,459,004 - 39,462,289 (+)Ensembl
Ensembl Acc Id: ENST00000640672   ⟹   ENSP00000492203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl439,462,218 - 39,485,109 (+)Ensembl
Ensembl Acc Id: ENST00000640689   ⟹   ENSP00000491591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl439,459,031 - 39,477,414 (+)Ensembl
Ensembl Acc Id: ENST00000640816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl439,468,874 - 39,477,618 (+)Ensembl
Ensembl Acc Id: ENST00000640888   ⟹   ENSP00000492260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl439,459,056 - 39,479,506 (+)Ensembl
RefSeq Acc Id: NM_001278590   ⟹   NP_001265519
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38439,459,056 - 39,479,506 (+)NCBI
GRCh37439,460,644 - 39,479,273 (+)NCBI
HuRef438,785,637 - 38,804,275 (+)NCBI
CHM1_1439,460,097 - 39,478,701 (+)NCBI
T2T-CHM13v2.0439,428,708 - 39,449,155 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278591   ⟹   NP_001265520
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38439,459,056 - 39,463,814 (+)NCBI
GRCh37439,460,644 - 39,479,273 (+)NCBI
HuRef438,785,637 - 38,804,275 (+)NCBI
CHM1_1439,460,097 - 39,464,887 (+)NCBI
T2T-CHM13v2.0439,428,708 - 39,433,467 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278592   ⟹   NP_001265521
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38439,459,056 - 39,463,814 (+)NCBI
GRCh37439,460,644 - 39,479,273 (+)NCBI
HuRef438,785,637 - 38,804,275 (+)NCBI
CHM1_1439,460,097 - 39,464,887 (+)NCBI
T2T-CHM13v2.0439,428,708 - 39,433,467 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363700   ⟹   NP_001350629
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38439,459,056 - 39,479,506 (+)NCBI
T2T-CHM13v2.0439,428,708 - 39,449,155 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006859   ⟹   NP_006850
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38439,459,056 - 39,479,506 (+)NCBI
GRCh37439,460,644 - 39,479,273 (+)NCBI
Build 36439,137,060 - 39,155,668 (+)NCBI Archive
Celera439,898,493 - 39,917,063 (+)RGD
HuRef438,785,637 - 38,804,275 (+)NCBI
CHM1_1439,460,097 - 39,478,701 (+)NCBI
T2T-CHM13v2.0439,428,708 - 39,449,155 (+)NCBI
Sequence:
RefSeq Acc Id: NM_194451   ⟹   NP_919433
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38439,459,056 - 39,479,506 (+)NCBI
GRCh37439,460,644 - 39,479,273 (+)NCBI
Build 36439,137,060 - 39,155,668 (+)NCBI Archive
Celera439,898,493 - 39,917,063 (+)RGD
HuRef438,785,637 - 38,804,275 (+)NCBI
CHM1_1439,460,097 - 39,478,701 (+)NCBI
T2T-CHM13v2.0439,428,708 - 39,449,155 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001265519 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265520 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265521 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350629 (Get FASTA)   NCBI Sequence Viewer  
  NP_006850 (Get FASTA)   NCBI Sequence Viewer  
  NP_919433 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH23635 (Get FASTA)   NCBI Sequence Viewer  
  AAH62751 (Get FASTA)   NCBI Sequence Viewer  
  BAF84674 (Get FASTA)   NCBI Sequence Viewer  
  BAF84927 (Get FASTA)   NCBI Sequence Viewer  
  BAG64479 (Get FASTA)   NCBI Sequence Viewer  
  CAA11859 (Get FASTA)   NCBI Sequence Viewer  
  CBN72404 (Get FASTA)   NCBI Sequence Viewer  
  CBN72413 (Get FASTA)   NCBI Sequence Viewer  
  EAW92932 (Get FASTA)   NCBI Sequence Viewer  
  EAW92933 (Get FASTA)   NCBI Sequence Viewer  
  EAW92934 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000261434
  ENSP00000261434.4
  ENSP00000340676
  ENSP00000340676.2
  ENSP00000371270
  ENSP00000371270.1
  ENSP00000425580.1
  ENSP00000491001.1
  ENSP00000491086
  ENSP00000491086.1
  ENSP00000491477.1
  ENSP00000491591.1
  ENSP00000491681.1
  ENSP00000491831.1
  ENSP00000491899.1
  ENSP00000492038.1
  ENSP00000492203.1
  ENSP00000492260
  ENSP00000492260.1
  ENSP00000492482.1
  ENSP00000492540.1
  ENSP00000492833
  ENSP00000492833.1
GenBank Protein O43766 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_006850   ⟸   NM_006859
- Peptide Label: isoform 1 precursor
- UniProtKB: C9JCF6 (UniProtKB/Swiss-Prot),   A8K873 (UniProtKB/Swiss-Prot),   Q8IV62 (UniProtKB/Swiss-Prot),   O43766 (UniProtKB/Swiss-Prot),   A0A1W2PPM2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_919433   ⟸   NM_194451
- Peptide Label: isoform 2 precursor
- UniProtKB: A0A1W2PNQ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265519   ⟸   NM_001278590
- Peptide Label: isoform 3 precursor
- UniProtKB: O43766 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265520   ⟸   NM_001278591
- Peptide Label: isoform 4 precursor
- UniProtKB: Q6P5Q6 (UniProtKB/TrEMBL),   A0A1W2PQS9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265521   ⟸   NM_001278592
- Peptide Label: isoform 5 precursor
- UniProtKB: B4E0L7 (UniProtKB/TrEMBL),   A0A1W2PQ87 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001350629   ⟸   NM_001363700
- Peptide Label: isoform 6 precursor
- UniProtKB: A0A1X7SBR7 (UniProtKB/TrEMBL),   D6RCP8 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000491086   ⟸   ENST00000424936
Ensembl Acc Id: ENSP00000492038   ⟸   ENST00000638837
Ensembl Acc Id: ENSP00000492482   ⟸   ENST00000638816
Ensembl Acc Id: ENSP00000491681   ⟸   ENST00000638451
Ensembl Acc Id: ENSP00000491831   ⟸   ENST00000638430
Ensembl Acc Id: ENSP00000491001   ⟸   ENST00000638422
Ensembl Acc Id: ENSP00000491899   ⟸   ENST00000639422
Ensembl Acc Id: ENSP00000492833   ⟸   ENST00000509519
Ensembl Acc Id: ENSP00000492260   ⟸   ENST00000640888
Ensembl Acc Id: ENSP00000491591   ⟸   ENST00000640689
Ensembl Acc Id: ENSP00000492203   ⟸   ENST00000640672
Ensembl Acc Id: ENSP00000492540   ⟸   ENST00000640489
Ensembl Acc Id: ENSP00000491477   ⟸   ENST00000640349
Ensembl Acc Id: ENSP00000340676   ⟸   ENST00000340169
Ensembl Acc Id: ENSP00000261434   ⟸   ENST00000261434
Ensembl Acc Id: ENSP00000371270   ⟸   ENST00000381846
Ensembl Acc Id: ENSP00000425580   ⟸   ENST00000513731
Protein Domains
Lipoyl synthase N-terminal   Radical SAM core

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43766-F1-model_v2 AlphaFold O43766 1-372 view protein structure

Promoters
RGD ID:6802599
Promoter ID:HG_KWN:48079
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001024921,   NM_194451,   OTTHUMT00000216812,   OTTHUMT00000216815,   UC003GUD.1,   UC003GUE.2,   UC003GUH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36439,135,586 - 39,137,002 (-)MPROMDB
RGD ID:6812537
Promoter ID:HG_ACW:58889
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:LIAS.IAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36439,147,351 - 39,147,851 (+)MPROMDB
RGD ID:6867254
Promoter ID:EPDNEW_H6792
Type:initiation region
Name:LIAS_2
Description:lipoic acid synthetase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6794  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38439,458,537 - 39,458,597EPDNEW
RGD ID:6867258
Promoter ID:EPDNEW_H6794
Type:initiation region
Name:LIAS_1
Description:lipoic acid synthetase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6792  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38439,459,060 - 39,459,120EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16429 AgrOrtholog
COSMIC LIAS COSMIC
Ensembl Genes ENSG00000121897 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000261434 ENTREZGENE
  ENST00000261434.8 UniProtKB/TrEMBL
  ENST00000340169 ENTREZGENE
  ENST00000340169.7 UniProtKB/Swiss-Prot
  ENST00000381846 ENTREZGENE
  ENST00000381846.2 UniProtKB/Swiss-Prot
  ENST00000424936 ENTREZGENE
  ENST00000424936.6 UniProtKB/TrEMBL
  ENST00000509519 ENTREZGENE
  ENST00000509519.5 UniProtKB/TrEMBL
  ENST00000513731.6 UniProtKB/TrEMBL
  ENST00000638422.1 UniProtKB/TrEMBL
  ENST00000638430.1 UniProtKB/TrEMBL
  ENST00000638451.1 UniProtKB/TrEMBL
  ENST00000638816.1 UniProtKB/TrEMBL
  ENST00000638837.1 UniProtKB/TrEMBL
  ENST00000639422.1 UniProtKB/TrEMBL
  ENST00000640349.1 UniProtKB/TrEMBL
  ENST00000640489.1 UniProtKB/TrEMBL
  ENST00000640672.1 UniProtKB/TrEMBL
  ENST00000640689.1 UniProtKB/TrEMBL
  ENST00000640888 ENTREZGENE
  ENST00000640888.2 UniProtKB/Swiss-Prot
Gene3D-CATH 3.20.20.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000121897 GTEx
HGNC ID HGNC:16429 ENTREZGENE
Human Proteome Map LIAS Human Proteome Map
InterPro Aldolase_TIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Elp3/MiaB/NifB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LIAS_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipoyl_synth UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  rSAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11019 UniProtKB/Swiss-Prot
NCBI Gene 11019 ENTREZGENE
OMIM 607031 OMIM
PANTHER LIPOYL SYNTHASE, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10949 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LIAS_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Radical_SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30369 PharmGKB
PIRSF Lipoyl_synth UniProtKB/Swiss-Prot
PROSITE RADICAL_SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Elp3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Radical SAM enzymes UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1W2PNQ5 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PPM2 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PQ02_HUMAN UniProtKB/TrEMBL
  A0A1W2PQ87 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PQE9_HUMAN UniProtKB/TrEMBL
  A0A1W2PQS9 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PR40_HUMAN UniProtKB/TrEMBL
  A0A1W2PR81_HUMAN UniProtKB/TrEMBL
  A0A1W2PRD2_HUMAN UniProtKB/TrEMBL
  A0A1W2PRE7_HUMAN UniProtKB/TrEMBL
  A0A1X7SBR7 ENTREZGENE, UniProtKB/TrEMBL
  A8K873 ENTREZGENE
  B4E0L7 ENTREZGENE, UniProtKB/TrEMBL
  C9JCF6 ENTREZGENE
  D6RCP8 ENTREZGENE, UniProtKB/TrEMBL
  LIAS_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6P5Q6 ENTREZGENE, UniProtKB/TrEMBL
  Q8IV62 ENTREZGENE
UniProt Secondary A8K873 UniProtKB/Swiss-Prot
  C9JCF6 UniProtKB/Swiss-Prot
  Q8IV62 UniProtKB/Swiss-Prot