HLCS (holocarboxylase synthetase) - Rat Genome Database

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Gene: HLCS (holocarboxylase synthetase) Homo sapiens
Analyze
Symbol: HLCS
Name: holocarboxylase synthetase
RGD ID: 1320489
HGNC Page HGNC
Description: Enables biotin binding activity; biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity; and enzyme binding activity. Involved in histone biotinylation; post-translational protein modification; and response to biotin. Located in chromatin; cytosol; and nuclear periphery. Implicated in holocarboxylase synthetase deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: biotin apo-protein ligase; biotin--[acetyl-CoA-carboxylase] ligase; biotin--[methylcrotonoyl-CoA-carboxylase] ligase; biotin--[methylmalonyl-CoA-carboxytransferase] ligase; biotin--protein ligase; HCS; holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase); holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382136,748,625 - 36,990,211 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2136,748,626 - 36,990,236 (-)EnsemblGRCh38hg38GRCh38
GRCh372138,120,926 - 38,362,511 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362137,045,059 - 37,284,373 (-)NCBINCBI36hg18NCBI36
Build 342137,045,058 - 37,284,373NCBI
Celera2123,321,570 - 23,560,921 (-)NCBI
Cytogenetic Map21q22.13ENTREZGENE
HuRef2123,599,006 - 23,838,349 (-)NCBIHuRef
CHM1_12137,684,363 - 37,923,921 (-)NCBICHM1_1
T2T-CHM13v2.02135,130,819 - 35,372,426 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
chromatin  (IDA)
cytoplasm  (IBA,IEA)
cytosol  (HDA,IDA,TAS)
mitochondrion  (IEA)
nuclear lamina  (IDA)
nuclear matrix  (IDA)

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. Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency. Morrone A, etal., Am J Med Genet 2002 Jul 22;111(1):10-8.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:6133032   PMID:7753853   PMID:7842009   PMID:8053691   PMID:8541348   PMID:8817339   PMID:9037601   PMID:9396568   PMID:9503011   PMID:9630604   PMID:10190325   PMID:10830953  
PMID:11735028   PMID:12477932   PMID:14613969   PMID:15489334   PMID:16344560   PMID:16780588   PMID:17417720   PMID:17904341   PMID:18029348   PMID:18429047   PMID:18452652   PMID:19048367  
PMID:19157941   PMID:19695181   PMID:19740736   PMID:19806568   PMID:19914215   PMID:20026029   PMID:20085763   PMID:20095979   PMID:20153287   PMID:20592104   PMID:20688500   PMID:21044950  
PMID:21802411   PMID:21873635   PMID:21988832   PMID:22027809   PMID:23624957   PMID:24075901   PMID:24133061   PMID:24239178   PMID:24840043   PMID:26186194   PMID:28330616   PMID:28514442  
PMID:28564555   PMID:28718761   PMID:29507755   PMID:29568061   PMID:30021884   PMID:30463901   PMID:31753913   PMID:32296183   PMID:32908313   PMID:33916271   PMID:33961781   PMID:34079125  
PMID:34709727  


Genomics

Comparative Map Data
HLCS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382136,748,625 - 36,990,211 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2136,748,626 - 36,990,236 (-)EnsemblGRCh38hg38GRCh38
GRCh372138,120,926 - 38,362,511 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362137,045,059 - 37,284,373 (-)NCBINCBI36hg18NCBI36
Build 342137,045,058 - 37,284,373NCBI
Celera2123,321,570 - 23,560,921 (-)NCBI
Cytogenetic Map21q22.13ENTREZGENE
HuRef2123,599,006 - 23,838,349 (-)NCBIHuRef
CHM1_12137,684,363 - 37,923,921 (-)NCBICHM1_1
T2T-CHM13v2.02135,130,819 - 35,372,426 (-)NCBI
Hlcs
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391693,930,054 - 94,116,098 (-)NCBIGRCm39mm39
GRCm39 Ensembl1693,929,741 - 94,114,430 (-)Ensembl
GRCm381694,129,306 - 94,315,239 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1694,128,882 - 94,313,571 (-)EnsemblGRCm38mm10GRCm38
MGSCv371694,350,912 - 94,509,463 (-)NCBIGRCm37mm9NCBIm37
MGSCv361694,239,207 - 94,396,654 (-)NCBImm8
Celera1695,215,800 - 95,374,528 (-)NCBICelera
Cytogenetic Map16C4NCBI
cM Map1655.12NCBI
Hlcs
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21133,455,806 - 33,635,197 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1133,455,809 - 33,624,222 (-)Ensembl
Rnor_6.01134,357,372 - 34,537,798 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1134,352,287 - 34,526,931 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01137,944,545 - 38,122,589 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41134,382,010 - 34,539,032 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1134,813,786 - 34,994,033 (+)NCBICelera
Cytogenetic Map11q11NCBI
Hlcs
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540735,873,826 - 36,074,868 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540735,870,820 - 36,062,066 (-)NCBIChiLan1.0ChiLan1.0
HLCS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12136,467,690 - 36,710,981 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2136,470,872 - 36,655,688 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02123,112,477 - 23,352,121 (-)NCBIMhudiblu_PPA_v0panPan3
HLCS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13131,934,796 - 32,159,866 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3131,937,087 - 32,150,861 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3130,996,015 - 31,222,017 (-)NCBI
ROS_Cfam_1.03131,237,740 - 31,464,058 (-)NCBI
ROS_Cfam_1.0 Ensembl3131,239,237 - 31,441,170 (-)Ensembl
UMICH_Zoey_3.13131,106,054 - 31,331,974 (-)NCBI
UNSW_CanFamBas_1.03131,119,760 - 31,344,999 (-)NCBI
UU_Cfam_GSD_1.03131,609,253 - 31,835,500 (-)NCBI
Hlcs
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497131,491,532 - 31,641,006 (-)NCBI
SpeTri2.0NW_0049365005,827,213 - 5,976,457 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HLCS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13200,407,540 - 200,608,129 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113200,406,395 - 200,618,967 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213210,481,824 - 210,683,009 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HLCS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1280,729,064 - 80,973,188 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl280,732,210 - 80,954,071 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660548,571,834 - 8,815,978 (-)NCBIVero_WHO_p1.0
Hlcs
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474526,675,837 - 26,847,415 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462474526,662,927 - 26,850,236 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D21S167  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,195,814 - 38,195,967UniSTSGRCh37
Celera2123,394,197 - 23,394,352UniSTS
Cytogenetic Map21q22.13UniSTS
HuRef2123,671,556 - 23,671,711UniSTS
Marshfield Genetic Map2138.65RGD
Marshfield Genetic Map2138.65UniSTS
deCODE Assembly Map2144.6UniSTS
Whitehead-YAC Contig Map21 UniSTS
SHGC-53043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,125,124 - 38,125,362UniSTSGRCh37
Build 362137,046,994 - 37,047,232RGDNCBI36
Celera2123,323,507 - 23,323,745RGD
Cytogenetic Map21q22.13UniSTS
HuRef2123,600,943 - 23,601,181UniSTS
TNG Radiation Hybrid Map2113496.0UniSTS
SHGC-10480  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,199,935 - 38,200,088UniSTSGRCh37
Build 362137,121,805 - 37,121,958RGDNCBI36
Celera2123,398,320 - 23,398,473RGD
Cytogenetic Map21q22.13UniSTS
HuRef2123,675,679 - 23,675,832UniSTS
TNG Radiation Hybrid Map2113570.0UniSTS
WI-15188  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,126,092 - 38,126,216UniSTSGRCh37
Build 362137,047,962 - 37,048,086RGDNCBI36
Celera2123,324,475 - 23,324,599RGD
Cytogenetic Map21q22.13UniSTS
HuRef2123,601,911 - 23,602,035UniSTS
GeneMap99-GB4 RH Map21181.2UniSTS
Whitehead-RH Map21178.5UniSTS
NCBI RH Map21269.2UniSTS
G34795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,122,925 - 38,123,018UniSTSGRCh37
Build 362137,044,795 - 37,044,888RGDNCBI36
Celera2123,321,306 - 23,321,399RGD
Cytogenetic Map21q22.13UniSTS
HuRef2123,598,742 - 23,598,835UniSTS
SHGC-87611  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,124,201 - 38,124,360UniSTSGRCh37
Build 362137,046,071 - 37,046,230RGDNCBI36
Celera2123,322,584 - 23,322,743RGD
Cytogenetic Map21q22.13UniSTS
HuRef2123,600,020 - 23,600,179UniSTS
TNG Radiation Hybrid Map2113473.0UniSTS
GeneMap99-GB4 RH Map21180.58UniSTS
SHGC-80685  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,238,687 - 38,238,983UniSTSGRCh37
Build 362137,160,557 - 37,160,853RGDNCBI36
Celera2123,437,076 - 23,437,372RGD
Cytogenetic Map21q22.13UniSTS
HuRef2123,714,437 - 23,714,733UniSTS
TNG Radiation Hybrid Map2113587.0UniSTS
SHGC-79242  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,291,666 - 38,291,937UniSTSGRCh37
Build 362137,213,536 - 37,213,807RGDNCBI36
Celera2123,490,047 - 23,490,318RGD
Cytogenetic Map21q22.13UniSTS
HuRef2123,767,415 - 23,767,686UniSTS
TNG Radiation Hybrid Map2113641.0UniSTS
SHGC-82126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,238,716 - 38,238,988UniSTSGRCh37
Build 362137,160,586 - 37,160,858RGDNCBI36
Celera2123,437,105 - 23,437,377RGD
Cytogenetic Map21q22.13UniSTS
HuRef2123,714,466 - 23,714,738UniSTS
TNG Radiation Hybrid Map2113603.0UniSTS
SHGC-81133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,146,348 - 38,146,623UniSTSGRCh37
Build 362137,068,218 - 37,068,493RGDNCBI36
Celera2123,344,731 - 23,345,006RGD
Cytogenetic Map21q22.13UniSTS
HuRef2123,622,164 - 23,622,439UniSTS
TNG Radiation Hybrid Map2113502.0UniSTS
G63307  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,322,213 - 38,322,516UniSTSGRCh37
Build 362137,244,083 - 37,244,386RGDNCBI36
Celera2123,520,594 - 23,520,897RGD
Cytogenetic Map21q22.13UniSTS
HuRef2123,797,956 - 23,798,258UniSTS
TNG Radiation Hybrid Map2113658.0UniSTS
D21S1717E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,171,626 - 38,171,705UniSTSGRCh37
Build 362137,093,496 - 37,093,575RGDNCBI36
Celera2123,370,010 - 23,370,089RGD
Cytogenetic Map21q22.13UniSTS
HuRef2123,647,368 - 23,647,447UniSTS
SHGC-9592  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,135,231 - 38,135,321UniSTSGRCh37
Build 362137,057,101 - 37,057,191RGDNCBI36
Celera2123,333,614 - 23,333,704RGD
Cytogenetic Map21q22.13UniSTS
HuRef2123,611,046 - 23,611,136UniSTS
TNG Radiation Hybrid Map2113479.0UniSTS
SHGC-144428  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,159,103 - 38,159,391UniSTSGRCh37
Build 362137,080,973 - 37,081,261RGDNCBI36
Celera2123,357,487 - 23,357,775RGD
Cytogenetic Map21q22.13UniSTS
HuRef2123,634,908 - 23,635,196UniSTS
TNG Radiation Hybrid Map2113527.0UniSTS
SHGC-170058  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,323,862 - 38,324,140UniSTSGRCh37
Build 362137,245,732 - 37,246,010RGDNCBI36
Celera2123,522,243 - 23,522,521RGD
Cytogenetic Map21q22.13UniSTS
HuRef2123,799,615 - 23,799,893UniSTS
TNG Radiation Hybrid Map2113658.0UniSTS
TNG Radiation Hybrid Map2112117.0UniSTS
G20353  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,122,898 - 38,123,059UniSTSGRCh37
Build 362137,044,768 - 37,044,929RGDNCBI36
Celera2123,321,279 - 23,321,440RGD
Cytogenetic Map21q22.13UniSTS
HuRef2123,598,715 - 23,598,876UniSTS
A005N28  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,122,898 - 38,123,059UniSTSGRCh37
Build 362137,044,768 - 37,044,929RGDNCBI36
Celera2123,321,279 - 23,321,440RGD
Cytogenetic Map21q22.13UniSTS
HuRef2123,598,715 - 23,598,876UniSTS
GeneMap99-GB4 RH Map21198.31UniSTS
NCBI RH Map21269.2UniSTS
SHGC-52086  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,126,482 - 38,126,595UniSTSGRCh37
Build 362137,048,352 - 37,048,465RGDNCBI36
Celera2123,324,865 - 23,324,978RGD
Cytogenetic Map21q22.13UniSTS
HuRef2123,602,301 - 23,602,414UniSTS
SHGC-12620  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,126,236 - 38,126,510UniSTSGRCh37
Build 362137,048,106 - 37,048,380RGDNCBI36
Celera2123,324,619 - 23,324,893RGD
Cytogenetic Map21q22.13UniSTS
HuRef2123,602,055 - 23,602,329UniSTS
TNG Radiation Hybrid Map2113479.0UniSTS
Stanford-G3 RH Map211073.0UniSTS
Whitehead-YAC Contig Map21 UniSTS
NCBI RH Map21281.2UniSTS
GeneMap99-G3 RH Map211073.0UniSTS
SHGC-9910  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,239,901 - 38,240,087UniSTSGRCh37
Build 362137,161,771 - 37,161,957RGDNCBI36
Celera2123,438,290 - 23,438,476RGD
Cytogenetic Map21q22.13UniSTS
HuRef2123,715,652 - 23,715,838UniSTS
TNG Radiation Hybrid Map2113590.0UniSTS
SHGC-87607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,123,482 - 38,123,610UniSTSGRCh37
Build 362137,045,352 - 37,045,480RGDNCBI36
Celera2123,321,865 - 23,321,993RGD
Cytogenetic Map21q22.13UniSTS
HuRef2123,599,301 - 23,599,429UniSTS
TNG Radiation Hybrid Map2113466.0UniSTS
GeneMap99-GB4 RH Map21179.39UniSTS
SHGC-52136  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,124,022 - 38,124,208UniSTSGRCh37
Build 362137,045,892 - 37,046,078RGDNCBI36
Celera2123,322,405 - 23,322,591RGD
Cytogenetic Map21q22.13UniSTS
HuRef2123,599,841 - 23,600,027UniSTS
TNG Radiation Hybrid Map2113473.0UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3253
Count of miRNA genes:1017
Interacting mature miRNAs:1207
Transcripts:ENST00000336648, ENST00000399120, ENST00000419461, ENST00000427746, ENST00000448340, ENST00000482273
Prediction methods: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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 153 55 525 66 279 65 217 49 487 125 331 470 12 2 41 3
Low 2285 2662 1201 557 1456 400 4139 2085 3245 294 1129 1142 162 1 1202 2746 3 1
Below cutoff 1 274 216 1 63 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006723995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB063285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ001864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC060787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI094308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ775124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB049233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D23672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA334377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB290499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H17102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X80160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000336648   ⟹   ENSP00000338387
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2136,750,888 - 36,990,236 (-)Ensembl
RefSeq Acc Id: ENST00000399120   ⟹   ENSP00000382071
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2136,751,192 - 36,966,473 (-)Ensembl
RefSeq Acc Id: ENST00000419461   ⟹   ENSP00000396370
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2136,937,185 - 36,966,639 (-)Ensembl
RefSeq Acc Id: ENST00000427746   ⟹   ENSP00000396443
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2136,937,214 - 36,990,224 (-)Ensembl
RefSeq Acc Id: ENST00000448340   ⟹   ENSP00000392923
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2136,937,168 - 36,980,628 (-)Ensembl
RefSeq Acc Id: ENST00000482273
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2136,896,570 - 36,930,417 (-)Ensembl
RefSeq Acc Id: ENST00000612277   ⟹   ENSP00000479939
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2136,750,888 - 36,980,964 (-)Ensembl
RefSeq Acc Id: ENST00000674895   ⟹   ENSP00000502087
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2136,748,626 - 36,966,669 (-)Ensembl
RefSeq Acc Id: ENST00000675057   ⟹   ENSP00000501832
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2136,752,072 - 36,990,234 (-)Ensembl
RefSeq Acc Id: ENST00000675307   ⟹   ENSP00000501750
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2136,752,065 - 36,980,789 (-)Ensembl
RefSeq Acc Id: NM_000411   ⟹   NP_000402
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,748,626 - 36,990,211 (-)NCBI
GRCh372138,123,189 - 38,362,545 (-)ENTREZGENE
Build 362137,045,059 - 37,284,373 (-)NCBI Archive
HuRef2123,599,006 - 23,838,349 (-)ENTREZGENE
CHM1_12137,684,363 - 37,923,921 (-)NCBI
T2T-CHM13v2.02135,130,820 - 35,372,426 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001242784   ⟹   NP_001229713
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,748,626 - 36,966,669 (-)NCBI
GRCh372138,123,189 - 38,362,545 (-)ENTREZGENE
HuRef2123,599,006 - 23,838,349 (-)ENTREZGENE
CHM1_12137,684,363 - 37,900,330 (-)NCBI
T2T-CHM13v2.02135,130,820 - 35,348,865 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001242785   ⟹   NP_001229714
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,748,625 - 36,980,994 (-)NCBI
GRCh372138,123,189 - 38,362,545 (-)ENTREZGENE
HuRef2123,599,006 - 23,838,349 (-)ENTREZGENE
CHM1_12137,684,363 - 37,914,625 (-)NCBI
T2T-CHM13v2.02135,130,819 - 35,363,207 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001352514   ⟹   NP_001339443
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,748,626 - 36,966,669 (-)NCBI
T2T-CHM13v2.02135,130,820 - 35,348,865 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001352515   ⟹   NP_001339444
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,748,626 - 36,990,211 (-)NCBI
T2T-CHM13v2.02135,130,820 - 35,372,426 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001352516   ⟹   NP_001339445
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,748,626 - 36,980,897 (-)NCBI
T2T-CHM13v2.02135,130,820 - 35,363,106 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001352517   ⟹   NP_001339446
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,748,625 - 36,980,994 (-)NCBI
T2T-CHM13v2.02135,130,819 - 35,363,207 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001352518   ⟹   NP_001339447
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,748,626 - 36,962,358 (-)NCBI
T2T-CHM13v2.02135,130,820 - 35,344,546 (-)NCBI
Sequence:
RefSeq Acc Id: NR_148020
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,748,626 - 36,990,211 (-)NCBI
T2T-CHM13v2.02135,130,820 - 35,372,426 (-)NCBI
Sequence:
RefSeq Acc Id: NR_148021
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,748,625 - 36,980,994 (-)NCBI
T2T-CHM13v2.02135,130,819 - 35,363,207 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011529540   ⟹   XP_011527842
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,889,188 - 36,966,669 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452065   ⟹   XP_024307833
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,748,625 - 36,990,211 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047440752   ⟹   XP_047296708
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,748,625 - 36,966,392 (-)NCBI
RefSeq Acc Id: XM_047440753   ⟹   XP_047296709
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,756,721 - 36,966,669 (-)NCBI
RefSeq Acc Id: XM_047440754   ⟹   XP_047296710
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,748,625 - 36,948,185 (-)NCBI
RefSeq Acc Id: XM_047440755   ⟹   XP_047296711
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,897,049 - 36,966,669 (-)NCBI
RefSeq Acc Id: XM_047440756   ⟹   XP_047296712
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,889,188 - 36,990,211 (-)NCBI
Protein Sequences
Protein RefSeqs NP_000402 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229713 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229714 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339443 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339444 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339445 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339446 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339447 (Get FASTA)   NCBI Sequence Viewer  
  XP_011527842 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307833 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296708 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296709 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296710 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296711 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296712 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH60787 (Get FASTA)   NCBI Sequence Viewer  
  BAA04902 (Get FASTA)   NCBI Sequence Viewer  
  BAA13332 (Get FASTA)   NCBI Sequence Viewer  
  BAA89434 (Get FASTA)   NCBI Sequence Viewer  
  BAA95510 (Get FASTA)   NCBI Sequence Viewer  
  BAA95511 (Get FASTA)   NCBI Sequence Viewer  
  BAB68550 (Get FASTA)   NCBI Sequence Viewer  
  BAG36868 (Get FASTA)   NCBI Sequence Viewer  
  CAA05056 (Get FASTA)   NCBI Sequence Viewer  
  EAX09731 (Get FASTA)   NCBI Sequence Viewer  
  EAX09732 (Get FASTA)   NCBI Sequence Viewer  
  P50747 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000402   ⟸   NM_000411
- Peptide Label: isoform 1
- UniProtKB: P50747 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001229714   ⟸   NM_001242785
- Peptide Label: isoform 1
- UniProtKB: P50747 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001229713   ⟸   NM_001242784
- Peptide Label: isoform 1
- UniProtKB: P50747 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011527842   ⟸   XM_011529540
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001339444   ⟸   NM_001352515
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: NP_001339446   ⟸   NM_001352517
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: NP_001339445   ⟸   NM_001352516
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: NP_001339443   ⟸   NM_001352514
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001339447   ⟸   NM_001352518
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: XP_024307833   ⟸   XM_024452065
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000382071   ⟸   ENST00000399120
RefSeq Acc Id: ENSP00000396443   ⟸   ENST00000427746
RefSeq Acc Id: ENSP00000338387   ⟸   ENST00000336648
RefSeq Acc Id: ENSP00000479939   ⟸   ENST00000612277
RefSeq Acc Id: ENSP00000396370   ⟸   ENST00000419461
RefSeq Acc Id: ENSP00000392923   ⟸   ENST00000448340
RefSeq Acc Id: ENSP00000502087   ⟸   ENST00000674895
RefSeq Acc Id: ENSP00000501750   ⟸   ENST00000675307
RefSeq Acc Id: ENSP00000501832   ⟸   ENST00000675057
RefSeq Acc Id: XP_047296708   ⟸   XM_047440752
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047296710   ⟸   XM_047440754
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047296709   ⟸   XM_047440753
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047296712   ⟸   XM_047440756
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047296711   ⟸   XM_047440755
- Peptide Label: isoform X6
Protein Domains
BPL/LPL catalytic

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P50747-F1-model_v2 AlphaFold P50747 1-726 view protein structure

Promoters
RGD ID:13602776
Promoter ID:EPDNEW_H27572
Type:initiation region
Name:HLCS_2
Description:holocarboxylase synthetase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27573  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,966,669 - 36,966,729EPDNEW
RGD ID:13602778
Promoter ID:EPDNEW_H27573
Type:initiation region
Name:HLCS_1
Description:holocarboxylase synthetase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27572  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382136,990,207 - 36,990,267EPDNEW
RGD ID:6799452
Promoter ID:HG_KWN:40815
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000399120,   OTTHUMT00000194690,   UC010GNC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362137,260,631 - 37,261,727 (-)MPROMDB
RGD ID:6799451
Promoter ID:HG_KWN:40817
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000194688
Position:
Human AssemblyChrPosition (strand)Source
Build 362137,274,844 - 37,275,344 (-)MPROMDB
RGD ID:6799453
Promoter ID:HG_KWN:40819
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_000411,   OTTHUMT00000194689
Position:
Human AssemblyChrPosition (strand)Source
Build 362137,284,049 - 37,284,549 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
HLCS, 1-BP DEL, 780G deletion Holocarboxylase synthetase deficiency [RCV000001983] Chr21:21q22.1 pathogenic
NM_001352514.2(HLCS):c.1960+5G>A single nucleotide variant Holocarboxylase synthetase deficiency [RCV000001989]|not provided [RCV001566943] Chr21:36767213 [GRCh38]
Chr21:38139514 [GRCh37]
Chr21:21q22.13
pathogenic|likely pathogenic
NM_001352514.2(HLCS):c.1096dup (p.Ile366fs) duplication Holocarboxylase synthetase deficiency [RCV000001990] Chr21:36936789..36936790 [GRCh38]
Chr21:38309089..38309090 [GRCh37]
Chr21:21q22.13
pathogenic
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000551133]|not provided [RCV001644630] Chr21:36936812 [GRCh38]
Chr21:38309112 [GRCh37]
Chr21:21q22.13
benign|conflicting interpretations of pathogenicity
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000001984] Chr21:36936735 [GRCh38]
Chr21:38309035 [GRCh37]
Chr21:21q22.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000001985] Chr21:36759811 [GRCh38]
Chr21:38132112 [GRCh37]
Chr21:21q22.13
pathogenic|conflicting interpretations of pathogenicity
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000001986] Chr21:36765170 [GRCh38]
Chr21:38137471 [GRCh37]
Chr21:21q22.13
pathogenic
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000001987] Chr21:36759781 [GRCh38]
Chr21:38132082 [GRCh37]
Chr21:21q22.13
pathogenic
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000001988]|not provided [RCV000185961] Chr21:36765044 [GRCh38]
Chr21:38137345 [GRCh37]
Chr21:21q22.13
pathogenic|likely pathogenic
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000001991] Chr21:36936798 [GRCh38]
Chr21:38309098 [GRCh37]
Chr21:21q22.13
pathogenic|likely pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1 copy number loss See cases [RCV000052807] Chr21:35527952..44298520 [GRCh37]
Chr21:34449822..43171589 [NCBI36]
Chr21:21q22.1-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.12-22.2(chr21:36396699-38951223)x3 copy number gain See cases [RCV000053071] Chr21:36396699..38951223 [GRCh38]
Chr21:37768997..40323148 [GRCh37]
Chr21:36690867..39245018 [NCBI36]
Chr21:21q22.12-22.2
pathogenic
GRCh38/hg38 21q22.13(chr21:36712503-37408829)x3 copy number gain See cases [RCV000053072] Chr21:36712503..37408829 [GRCh38]
Chr21:38084803..38781131 [GRCh37]
Chr21:37006673..37703001 [NCBI36]
Chr21:21q22.13
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_001352514.2(HLCS):c.1620+7del deletion Holocarboxylase synthetase deficiency [RCV000383844]|not provided [RCV001703985]|not specified [RCV000078723] Chr21:36930244 [GRCh38]
Chr21:38302544 [GRCh37]
Chr21:21q22.13
benign|likely benign|conflicting interpretations of pathogenicity
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000330589]|not provided [RCV001668184]|not specified [RCV000078724] Chr21:36936611 [GRCh38]
Chr21:38308911 [GRCh37]
Chr21:21q22.13
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001352514.2(HLCS):c.1960+16T>A single nucleotide variant Holocarboxylase synthetase deficiency [RCV001518066]|not specified [RCV000125356] Chr21:36767202 [GRCh38]
Chr21:38139503 [GRCh37]
Chr21:21q22.13
benign
NM_001352514.2(HLCS):c.2151C>T (p.Asn717=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000537158]|not specified [RCV000125357] Chr21:36759812 [GRCh38]
Chr21:38132113 [GRCh37]
Chr21:21q22.13
benign|conflicting interpretations of pathogenicity
NM_001352514.2(HLCS):c.2361C>T (p.Val787=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000299230]|not specified [RCV000125358] Chr21:36756631 [GRCh38]
Chr21:38128932 [GRCh37]
Chr21:21q22.13
benign|likely benign|conflicting interpretations of pathogenicity
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000314830]|not provided [RCV001312004]|not specified [RCV000125359] Chr21:36754253 [GRCh38]
Chr21:38126554 [GRCh37]
Chr21:21q22.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000283855]|not provided [RCV001573785]|not specified [RCV000125360] Chr21:36937319 [GRCh38]
Chr21:38309619 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_001352514.2(HLCS):c.726C>T (p.Pro242=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000536373]|not specified [RCV000125361] Chr21:36937160 [GRCh38]
Chr21:38309460 [GRCh37]
Chr21:21q22.13
benign
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000337767]|not provided [RCV001572921]|not specified [RCV000125362] Chr21:36937159 [GRCh38]
Chr21:38309459 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_001352514.2(HLCS):c.1412G>A (p.Arg471His) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000634880]|not specified [RCV000125363] Chr21:36936474 [GRCh38]
Chr21:38308774 [GRCh37]
Chr21:21q22.13
benign
NM_000411.8(HLCS):c.-405T>C single nucleotide variant Holocarboxylase synthetase deficiency [RCV000319440]|not specified [RCV000125364] Chr21:36990170 [GRCh38]
Chr21:38362470 [GRCh37]
Chr21:21q22.13
benign
NM_000411.8(HLCS):c.-393+11G>T single nucleotide variant Holocarboxylase synthetase deficiency [RCV000372889]|not specified [RCV000125365] Chr21:36990147 [GRCh38]
Chr21:38362447 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_000411.8(HLCS):c.-393+9391A>G single nucleotide variant not specified [RCV000125366] Chr21:36980767 [GRCh38]
Chr21:38353067 [GRCh37]
Chr21:21q22.13
benign
NM_001352514.2(HLCS):c.681C>T (p.Ala227=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001412317] Chr21:36937205 [GRCh38]
Chr21:38309505 [GRCh37]
Chr21:21q22.13
likely benign
GRCh37/hg19 21q22.13-22.2(chr21:37839410..41427526) copy number loss DYRK1A-related intellectual disability syndrome [RCV000190476] Chr21:37839410..41427526 [GRCh37]
Chr21:21q22.13-22.2
pathogenic
NM_001352514.2(HLCS):c.2065C>T (p.Gln689Ter) single nucleotide variant not provided [RCV000180500] Chr21:36765068 [GRCh38]
Chr21:38137369 [GRCh37]
Chr21:21q22.13
pathogenic
GRCh38/hg38 21q22.12-22.2(chr21:35772177-38558509)x1 copy number loss See cases [RCV000133619] Chr21:35772177..38558509 [GRCh38]
Chr21:37144475..39930433 [GRCh37]
Chr21:36066345..38852303 [NCBI36]
Chr21:21q22.12-22.2
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 copy number gain See cases [RCV000133676] Chr21:7749532..42971047 [GRCh38]
Chr21:15499847..44391157 [GRCh37]
Chr21:14421718..43264226 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.12-22.2(chr21:35543872-39993338)x1 copy number loss See cases [RCV000135412] Chr21:35543872..39993338 [GRCh38]
Chr21:36916169..41365265 [GRCh37]
Chr21:35838039..40287135 [NCBI36]
Chr21:21q22.12-22.2
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1 copy number loss See cases [RCV000138095] Chr21:7749532..37653653 [GRCh38]
Chr21:15451032..39025955 [GRCh37]
Chr21:14372903..37947825 [NCBI36]
Chr21:21p11.2-q22.13
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting data from submitters
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3
uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
NC_000021.8:g.(?_38007970)_(39747620_?)del deletion Seizure [RCV000149563] Chr21:38007970..39747620 [GRCh37]
Chr21:21q22.13-22.2
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_001352514.2(HLCS):c.849C>G (p.Ser283Arg) single nucleotide variant not provided [RCV000185966] Chr21:36937037 [GRCh38]
Chr21:38309337 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_000411.6(HLCS):c.1393T>G (p.Leu465Val) single nucleotide variant not specified [RCV000185968] Chr21:36896918 [GRCh38]
Chr21:38269218 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000625204]|not provided [RCV001573888]|not specified [RCV000185945] Chr21:36765020 [GRCh38]
Chr21:38137321 [GRCh37]
Chr21:21q22.13
benign|likely benign|conflicting interpretations of pathogenicity
NM_001352514.2(HLCS):c.2362G>A (p.Val788Met) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001080783]|not provided [RCV000430485] Chr21:36756630 [GRCh38]
Chr21:38128931 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_001352514.2(HLCS):c.*7_*9del deletion Holocarboxylase synthetase deficiency [RCV001273642]|not provided [RCV001675661]|not specified [RCV000185947] Chr21:36754237..36754239 [GRCh38]
Chr21:38126538..38126540 [GRCh37]
Chr21:21q22.13
benign
NM_001352514.2(HLCS):c.331-7157C>T single nucleotide variant Holocarboxylase synthetase deficiency [RCV000273398]|not specified [RCV000185948] Chr21:36946151 [GRCh38]
Chr21:38318451 [GRCh37]
Chr21:21q22.13
benign|likely benign|uncertain significance
NM_001352514.2(HLCS):c.494-13A>G single nucleotide variant Holocarboxylase synthetase deficiency [RCV001512953]|not specified [RCV000185949] Chr21:36937405 [GRCh38]
Chr21:38309705 [GRCh37]
Chr21:21q22.13
benign
NM_001352514.2(HLCS):c.601G>C (p.Glu201Gln) single nucleotide variant not specified [RCV000185950] Chr21:36937285 [GRCh38]
Chr21:38309585 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.914C>T (p.Thr305Met) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000634883]|not provided [RCV001704965] Chr21:36936972 [GRCh38]
Chr21:38309272 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000634879]|not specified [RCV000185952] Chr21:36936884 [GRCh38]
Chr21:38309184 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000387432]|not specified [RCV000185953] Chr21:36936813 [GRCh38]
Chr21:38309113 [GRCh37]
Chr21:21q22.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001352514.2(HLCS):c.1291G>A (p.Val431Ile) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000814306]|not specified [RCV000185954] Chr21:36936595 [GRCh38]
Chr21:38308895 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001352514.2(HLCS):c.1330C>T (p.Arg444Trp) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001037955]|not provided [RCV000185955] Chr21:36936556 [GRCh38]
Chr21:38308856 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000273160]|not provided [RCV000905916] Chr21:36936555 [GRCh38]
Chr21:38308855 [GRCh37]
Chr21:21q22.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001352514.2(HLCS):c.1342G>A (p.Gly448Ser) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000871920]|not specified [RCV000185957] Chr21:36936544 [GRCh38]
Chr21:38308844 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.1494C>T (p.Asn498=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000871466]|not specified [RCV000185958] Chr21:36930377 [GRCh38]
Chr21:38302677 [GRCh37]
Chr21:21q22.13
benign
NM_000411.6(HLCS):c.1179+6delT deletion not specified [RCV000185959] Chr21:36930245 [GRCh38]
Chr21:38302545 [GRCh37]
Chr21:21q22.13
benign
NM_001352514.2(HLCS):c.1621-13_1621-10del microsatellite Holocarboxylase synthetase deficiency [RCV000951730]|not specified [RCV000185960] Chr21:36897141..36897144 [GRCh38]
Chr21:38269441..38269444 [GRCh37]
Chr21:21q22.13
benign
NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000634876]|not provided [RCV000185963] Chr21:36754368 [GRCh38]
Chr21:38126669 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000665201] Chr21:36756558 [GRCh38]
Chr21:38128859 [GRCh37]
Chr21:21q22.13
pathogenic|likely pathogenic
NM_000411.6(HLCS):c.2069A>T (p.Asp690Val) single nucleotide variant not provided [RCV000185964] Chr21:36754358 [GRCh38]
Chr21:38126659 [GRCh37]
Chr21:21q22.13
likely pathogenic
NM_001352514.2(HLCS):c.664C>T (p.Gln222Ter) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001385074] Chr21:36937222 [GRCh38]
Chr21:38309522 [GRCh37]
Chr21:21q22.13
pathogenic
NM_001352514.2(HLCS):c.2333del (p.Pro777_Leu778insTer) deletion not provided [RCV000185967] Chr21:36756659 [GRCh38]
Chr21:38128960 [GRCh37]
Chr21:21q22.13
pathogenic
NM_001352514.2(HLCS):c.1223del (p.Gly408fs) deletion Holocarboxylase synthetase deficiency [RCV000410410]|not provided [RCV000185969] Chr21:36936663 [GRCh38]
Chr21:38308963 [GRCh37]
Chr21:21q22.13
pathogenic
NM_001352514.2(HLCS):c.2416G>A (p.Val806Ile) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000558052] Chr21:36756576 [GRCh38]
Chr21:38128877 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001352514.2(HLCS):c.2446C>T (p.His816Tyr) single nucleotide variant not provided [RCV000224257] Chr21:36756546 [GRCh38]
Chr21:38128847 [GRCh37]
Chr21:21q22.13
pathogenic
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000669580] Chr21:36896944 [GRCh38]
Chr21:38269244 [GRCh37]
Chr21:21q22.13
conflicting interpretations of pathogenicity|uncertain significance
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000634881]|not specified [RCV000606012] Chr21:36754285 [GRCh38]
Chr21:38126586 [GRCh37]
Chr21:21q22.13
benign|likely benign
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000669490] Chr21:36896902 [GRCh38]
Chr21:38269202 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.1438-36G>A single nucleotide variant Holocarboxylase synthetase deficiency [RCV001527173]|not provided [RCV001636746]|not specified [RCV000243548] Chr21:36930469 [GRCh38]
Chr21:38302769 [GRCh37]
Chr21:21q22.13
benign
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_001352514.2(HLCS):c.2122-35G>A single nucleotide variant not provided [RCV001569970]|not specified [RCV000243878] Chr21:36759876 [GRCh38]
Chr21:38132177 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.1893-46G>T single nucleotide variant Holocarboxylase synthetase deficiency [RCV001527172]|not provided [RCV001682975]|not specified [RCV000246917] Chr21:36767331 [GRCh38]
Chr21:38139632 [GRCh37]
Chr21:21q22.13
benign
NM_001352514.2(HLCS):c.2122-30G>A single nucleotide variant Holocarboxylase synthetase deficiency [RCV001527310]|not provided [RCV000830820]|not specified [RCV000252073] Chr21:36759871 [GRCh38]
Chr21:38132172 [GRCh37]
Chr21:21q22.13
benign
NM_001352514.2(HLCS):c.*40A>G single nucleotide variant Holocarboxylase synthetase deficiency [RCV000394580]|not provided [RCV001571414]|not specified [RCV000247568] Chr21:36754206 [GRCh38]
Chr21:38126507 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_000411.7(HLCS):c.-466A>G single nucleotide variant Holocarboxylase synthetase deficiency [RCV000284605]|not provided [RCV001643039] Chr21:36990231 [GRCh38]
Chr21:38362531 [GRCh37]
Chr21:21q22.13
benign
NM_001352514.2(HLCS):c.*3247A>G single nucleotide variant Holocarboxylase synthetase deficiency [RCV000292541] Chr21:36750999 [GRCh38]
Chr21:38123300 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001352514.2(HLCS):c.*1273T>A single nucleotide variant Holocarboxylase synthetase deficiency [RCV000260699] Chr21:36752973 [GRCh38]
Chr21:38125274 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*1206C>A single nucleotide variant Holocarboxylase synthetase deficiency [RCV000297154] Chr21:36753040 [GRCh38]
Chr21:38125341 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_000411.8(HLCS):c.-393+7C>T single nucleotide variant Holocarboxylase synthetase deficiency [RCV000280727] Chr21:36990151 [GRCh38]
Chr21:38362451 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*1856T>C single nucleotide variant Holocarboxylase synthetase deficiency [RCV000320116] Chr21:36752390 [GRCh38]
Chr21:38124691 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.331-7076C>T single nucleotide variant Holocarboxylase synthetase deficiency [RCV000308634] Chr21:36946070 [GRCh38]
Chr21:38318370 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.2352C>T (p.Ile784=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000356386] Chr21:36756640 [GRCh38]
Chr21:38128941 [GRCh37]
Chr21:21q22.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001352514.2(HLCS):c.*2434G>T single nucleotide variant Holocarboxylase synthetase deficiency [RCV000272032] Chr21:36751812 [GRCh38]
Chr21:38124113 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*1756C>T single nucleotide variant Holocarboxylase synthetase deficiency [RCV000395436] Chr21:36752490 [GRCh38]
Chr21:38124791 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.215A>T (p.Lys72Met) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000277142]|not specified [RCV000427466] Chr21:36962151 [GRCh38]
Chr21:38334451 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001352514.2(HLCS):c.*2243C>T single nucleotide variant Holocarboxylase synthetase deficiency [RCV000277443] Chr21:36752003 [GRCh38]
Chr21:38124304 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*1484A>G single nucleotide variant Holocarboxylase synthetase deficiency [RCV000314560] Chr21:36752762 [GRCh38]
Chr21:38125063 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_001352514.2(HLCS):c.331-7111G>A single nucleotide variant Holocarboxylase synthetase deficiency [RCV000365608]|not provided [RCV001786372] Chr21:36946105 [GRCh38]
Chr21:38318405 [GRCh37]
Chr21:21q22.13
benign|likely benign|uncertain significance
NM_001352514.2(HLCS):c.*2541C>T single nucleotide variant Holocarboxylase synthetase deficiency [RCV000366544] Chr21:36751705 [GRCh38]
Chr21:38124006 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000280325] Chr21:36937046 [GRCh38]
Chr21:38309346 [GRCh37]
Chr21:21q22.13
conflicting interpretations of pathogenicity|uncertain significance
NM_001352514.2(HLCS):c.*3141_*3142dup duplication Holocarboxylase synthetase deficiency [RCV000280668] Chr21:36751103..36751104 [GRCh38]
Chr21:38123404..38123405 [GRCh37]
Chr21:21q22.13
benign
NM_001352514.2(HLCS):c.*1324T>C single nucleotide variant Holocarboxylase synthetase deficiency [RCV000369285] Chr21:36752922 [GRCh38]
Chr21:38125223 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001352514.2(HLCS):c.294A>C (p.Gln98His) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000369369] Chr21:36962072 [GRCh38]
Chr21:38334372 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.841G>A (p.Asp281Asn) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000371993] Chr21:36937045 [GRCh38]
Chr21:38309345 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*2545C>A single nucleotide variant Holocarboxylase synthetase deficiency [RCV000307225] Chr21:36751701 [GRCh38]
Chr21:38124002 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*1084C>T single nucleotide variant Holocarboxylase synthetase deficiency [RCV000321853] Chr21:36753162 [GRCh38]
Chr21:38125463 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*1852G>T single nucleotide variant Holocarboxylase synthetase deficiency [RCV000374651] Chr21:36752394 [GRCh38]
Chr21:38124695 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*2945C>T single nucleotide variant Holocarboxylase synthetase deficiency [RCV000401150] Chr21:36751301 [GRCh38]
Chr21:38123602 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*590A>G single nucleotide variant Holocarboxylase synthetase deficiency [RCV000324336] Chr21:36753656 [GRCh38]
Chr21:38125957 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_000411.8(HLCS):c.-433C>T single nucleotide variant Holocarboxylase synthetase deficiency [RCV000376454]|not provided [RCV001618600] Chr21:36990198 [GRCh38]
Chr21:38362498 [GRCh37]
Chr21:21q22.13
benign
NM_001352514.2(HLCS):c.*1589CAAA[2] microsatellite Holocarboxylase synthetase deficiency [RCV000308591] Chr21:36752646..36752649 [GRCh38]
Chr21:38124947..38124950 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.*1827C>A single nucleotide variant Holocarboxylase synthetase deficiency [RCV000284816] Chr21:36752419 [GRCh38]
Chr21:38124720 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.1621-12T>C single nucleotide variant Holocarboxylase synthetase deficiency [RCV000326981]|not specified [RCV000600517] Chr21:36897143 [GRCh38]
Chr21:38269443 [GRCh37]
Chr21:21q22.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001352514.2(HLCS):c.*547C>T single nucleotide variant Holocarboxylase synthetase deficiency [RCV000381225] Chr21:36753699 [GRCh38]
Chr21:38126000 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_001352514.2(HLCS):c.1977G>A (p.Val659=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000264157] Chr21:36765156 [GRCh38]
Chr21:38137457 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*1744G>A single nucleotide variant Holocarboxylase synthetase deficiency [RCV000288770] Chr21:36752502 [GRCh38]
Chr21:38124803 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001352514.2(HLCS):c.*521C>T single nucleotide variant Holocarboxylase synthetase deficiency [RCV000289157] Chr21:36753725 [GRCh38]
Chr21:38126026 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_001352514.2(HLCS):c.331-7170T>A single nucleotide variant Holocarboxylase synthetase deficiency [RCV000331008]|not provided [RCV001697761] Chr21:36946164 [GRCh38]
Chr21:38318464 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001352514.2(HLCS):c.*2163A>G single nucleotide variant Holocarboxylase synthetase deficiency [RCV000333074] Chr21:36752083 [GRCh38]
Chr21:38124384 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*3226dup duplication Holocarboxylase synthetase deficiency [RCV000333447] Chr21:36751019..36751020 [GRCh38]
Chr21:38123320..38123321 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000334425] Chr21:36756560 [GRCh38]
Chr21:38128861 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*3159_*3162del deletion Holocarboxylase synthetase deficiency [RCV000334511] Chr21:36751084..36751087 [GRCh38]
Chr21:38123385..38123388 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*2622G>A single nucleotide variant Holocarboxylase synthetase deficiency [RCV000389959] Chr21:36751624 [GRCh38]
Chr21:38123925 [GRCh37]
Chr21:21q22.13
benign
NM_001352514.2(HLCS):c.918A>G (p.Gly306=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000295143] Chr21:36936968 [GRCh38]
Chr21:38309268 [GRCh37]
Chr21:21q22.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001352514.2(HLCS):c.500A>G (p.His167Arg) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000341002] Chr21:36937386 [GRCh38]
Chr21:38309686 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_000411.7(HLCS):c.-471A>G single nucleotide variant Holocarboxylase synthetase deficiency [RCV000341933]|not provided [RCV001653650] Chr21:36990236 [GRCh38]
Chr21:38362536 [GRCh37]
Chr21:21q22.13
benign
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000359964] Chr21:36896895 [GRCh38]
Chr21:38269195 [GRCh37]
Chr21:21q22.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001352514.2(HLCS):c.*2624G>A single nucleotide variant Holocarboxylase synthetase deficiency [RCV000360742] Chr21:36751622 [GRCh38]
Chr21:38123923 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001352514.2(HLCS):c.*1089G>A single nucleotide variant Holocarboxylase synthetase deficiency [RCV000261971] Chr21:36753157 [GRCh38]
Chr21:38125458 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*1725A>G single nucleotide variant Holocarboxylase synthetase deficiency [RCV000343785] Chr21:36752521 [GRCh38]
Chr21:38124822 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001352514.2(HLCS):c.2418C>T (p.Val806=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000398795] Chr21:36756574 [GRCh38]
Chr21:38128875 [GRCh37]
Chr21:21q22.13
conflicting interpretations of pathogenicity|uncertain significance
NM_001352514.2(HLCS):c.494-9A>G single nucleotide variant Holocarboxylase synthetase deficiency [RCV000401081] Chr21:36937401 [GRCh38]
Chr21:38309701 [GRCh37]
Chr21:21q22.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001352514.2(HLCS):c.*779A>T single nucleotide variant Holocarboxylase synthetase deficiency [RCV000266928] Chr21:36753467 [GRCh38]
Chr21:38125768 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*1997G>A single nucleotide variant Holocarboxylase synthetase deficiency [RCV000279068] Chr21:36752249 [GRCh38]
Chr21:38124550 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*490C>T single nucleotide variant Holocarboxylase synthetase deficiency [RCV000346319] Chr21:36753756 [GRCh38]
Chr21:38126057 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*3209C>T single nucleotide variant Holocarboxylase synthetase deficiency [RCV000279434] Chr21:36751037 [GRCh38]
Chr21:38123338 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*1594A>G single nucleotide variant Holocarboxylase synthetase deficiency [RCV000349679] Chr21:36752652 [GRCh38]
Chr21:38124953 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*259T>C single nucleotide variant Holocarboxylase synthetase deficiency [RCV000349731]|not provided [RCV001643038] Chr21:36753987 [GRCh38]
Chr21:38126288 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_001352514.2(HLCS):c.1163G>C (p.Gly388Ala) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000408618] Chr21:36936723 [GRCh38]
Chr21:38309023 [GRCh37]
Chr21:21q22.13
likely pathogenic
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000267702]|not provided [RCV001706551] Chr21:36897057 [GRCh38]
Chr21:38269357 [GRCh37]
Chr21:21q22.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001352514.2(HLCS):c.*2814C>T single nucleotide variant Holocarboxylase synthetase deficiency [RCV000305257] Chr21:36751432 [GRCh38]
Chr21:38123733 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.494-25TC[4] microsatellite Holocarboxylase synthetase deficiency [RCV000306027]|not specified [RCV000480375] Chr21:36937408..36937409 [GRCh38]
Chr21:38309708..38309709 [GRCh37]
Chr21:21q22.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000352340]|not provided [RCV001705508]|not specified [RCV000438140] Chr21:36937021 [GRCh38]
Chr21:38309321 [GRCh37]
Chr21:21q22.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001352514.2(HLCS):c.2036C>A (p.Ser679Tyr) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001245310]|not provided [RCV000489053] Chr21:36765097 [GRCh38]
Chr21:38137398 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000668883]|not provided [RCV000489166] Chr21:36759829 [GRCh38]
Chr21:38132130 [GRCh37]
Chr21:21q22.13
pathogenic
NM_001352514.2(HLCS):c.2225A>G (p.Tyr742Cys) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001277483] Chr21:36759738 [GRCh38]
Chr21:38132039 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.1943G>A (p.Arg648Gln) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000302979] Chr21:36767235 [GRCh38]
Chr21:38139536 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.493+9C>A single nucleotide variant Holocarboxylase synthetase deficiency [RCV000363083] Chr21:36938823 [GRCh38]
Chr21:38311123 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*1581T>C single nucleotide variant Holocarboxylase synthetase deficiency [RCV000400463] Chr21:36752665 [GRCh38]
Chr21:38124966 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*270dup duplication Holocarboxylase synthetase deficiency [RCV000292486] Chr21:36753975..36753976 [GRCh38]
Chr21:38126276..38126277 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.206A>G (p.Asp69Gly) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000315838] Chr21:36962160 [GRCh38]
Chr21:38334460 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*2285G>A single nucleotide variant Holocarboxylase synthetase deficiency [RCV000331825] Chr21:36751961 [GRCh38]
Chr21:38124262 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.489T>G (p.Ile163Met) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000402151] Chr21:36938836 [GRCh38]
Chr21:38311136 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*334A>G single nucleotide variant Holocarboxylase synthetase deficiency [RCV000384635] Chr21:36753912 [GRCh38]
Chr21:38126213 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*2267G>T single nucleotide variant Holocarboxylase synthetase deficiency [RCV000367856] Chr21:36751979 [GRCh38]
Chr21:38124280 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*3226del deletion Holocarboxylase synthetase deficiency [RCV000387820] Chr21:36751020 [GRCh38]
Chr21:38123321 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_000411.7(HLCS):c.-480-12A>G single nucleotide variant Holocarboxylase synthetase deficiency [RCV000387539]|not provided [RCV001653774] Chr21:36990257 [GRCh38]
Chr21:38362557 [GRCh37]
Chr21:21q22.13
benign
NM_001352514.2(HLCS):c.*2023G>A single nucleotide variant Holocarboxylase synthetase deficiency [RCV000373674] Chr21:36752223 [GRCh38]
Chr21:38124524 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*1761_*1762del deletion Holocarboxylase synthetase deficiency [RCV000339931] Chr21:36752484..36752485 [GRCh38]
Chr21:38124785..38124786 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*2952CT[1] microsatellite Holocarboxylase synthetase deficiency [RCV000340311] Chr21:36751291..36751292 [GRCh38]
Chr21:38123592..38123593 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*1097G>A single nucleotide variant Holocarboxylase synthetase deficiency [RCV000356784] Chr21:36753149 [GRCh38]
Chr21:38125450 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*985C>A single nucleotide variant Holocarboxylase synthetase deficiency [RCV000376523] Chr21:36753261 [GRCh38]
Chr21:38125562 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*1614dup duplication Holocarboxylase synthetase deficiency [RCV000395444] Chr21:36752631..36752632 [GRCh38]
Chr21:38124932..38124933 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.723C>A (p.Gly241=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000396043] Chr21:36937163 [GRCh38]
Chr21:38309463 [GRCh37]
Chr21:21q22.13
conflicting interpretations of pathogenicity|uncertain significance
NM_001352514.2(HLCS):c.*3161G>T single nucleotide variant Holocarboxylase synthetase deficiency [RCV000396875] Chr21:36751085 [GRCh38]
Chr21:38123386 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*1071G>A single nucleotide variant Holocarboxylase synthetase deficiency [RCV001139082] Chr21:36753175 [GRCh38]
Chr21:38125476 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000587858] Chr21:36930295 [GRCh38]
Chr21:38302595 [GRCh37]
Chr21:21q22.13
pathogenic|likely pathogenic
NM_001352514.2(HLCS):c.*2555T>C single nucleotide variant Holocarboxylase synthetase deficiency [RCV001138974] Chr21:36751691 [GRCh38]
Chr21:38123992 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.529A>G (p.Lys177Glu) single nucleotide variant not provided [RCV000415893] Chr21:36937357 [GRCh38]
Chr21:38309657 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.1068G>A (p.Pro356=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001428290]|not provided [RCV000734554] Chr21:36936818 [GRCh38]
Chr21:38309118 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001352514.2(HLCS):c.2332T>G (p.Leu778Val) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001500597]|not provided [RCV000734556] Chr21:36756660 [GRCh38]
Chr21:38128961 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) duplication Holocarboxylase synthetase deficiency [RCV000411747]|not provided [RCV001591046] Chr21:36765158..36765159 [GRCh38]
Chr21:38137459..38137460 [GRCh37]
Chr21:21q22.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001352514.2(HLCS):c.857T>A (p.Leu286Ter) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000412366] Chr21:36937029 [GRCh38]
Chr21:38309329 [GRCh37]
Chr21:21q22.13
likely pathogenic
GRCh37/hg19 21q22.13-22.2(chr21:38176362-41901945)x1 copy number loss See cases [RCV000449183] Chr21:38176362..41901945 [GRCh37]
Chr21:21q22.13-22.2
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3 copy number gain See cases [RCV000446716] Chr21:15006457..43598570 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_001352514.2(HLCS):c.1437+17G>A single nucleotide variant not specified [RCV000427527] Chr21:36936432 [GRCh38]
Chr21:38308732 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.2121+11T>A single nucleotide variant Holocarboxylase synthetase deficiency [RCV002061405]|not specified [RCV000445315] Chr21:36765001 [GRCh38]
Chr21:38137302 [GRCh37]
Chr21:21q22.13
benign
NM_001352514.2(HLCS):c.933C>T (p.Ile311=) single nucleotide variant not specified [RCV000438232] Chr21:36936953 [GRCh38]
Chr21:38309253 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.1422A>G (p.Glu474=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000871103]|not specified [RCV000428342] Chr21:36936464 [GRCh38]
Chr21:38308764 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.1167G>A (p.Lys389=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV002059959]|not specified [RCV000428991] Chr21:36936719 [GRCh38]
Chr21:38309019 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.2413A>G (p.Ser805Gly) single nucleotide variant not specified [RCV000429268] Chr21:36756579 [GRCh38]
Chr21:38128880 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.2538G>A (p.Gln846=) single nucleotide variant not specified [RCV000429778] Chr21:36754330 [GRCh38]
Chr21:38126631 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.2451-19C>T single nucleotide variant Holocarboxylase synthetase deficiency [RCV001510064]|not specified [RCV000426426] Chr21:36754436 [GRCh38]
Chr21:38126737 [GRCh37]
Chr21:21q22.13
benign
NM_001352514.2(HLCS):c.1893-6C>T single nucleotide variant Holocarboxylase synthetase deficiency [RCV000872110]|not provided [RCV001720032] Chr21:36767291 [GRCh38]
Chr21:38139592 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_001352514.2(HLCS):c.*19C>T single nucleotide variant Holocarboxylase synthetase deficiency [RCV001141697]|not specified [RCV000437097] Chr21:36754227 [GRCh38]
Chr21:38126528 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001085236]|not provided [RCV000440766] Chr21:36765164 [GRCh38]
Chr21:38137465 [GRCh37]
Chr21:21q22.13
benign|likely benign
GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)x3 copy number gain See cases [RCV000448874] Chr21:29812033..39282854 [GRCh37]
Chr21:21q21.3-22.13
pathogenic
GRCh37/hg19 21q22.13(chr21:38212180-38328023)x1 copy number loss See cases [RCV000448707] Chr21:38212180..38328023 [GRCh37]
Chr21:21q22.13
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3 copy number gain See cases [RCV000448199] Chr21:15006457..44827632 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_001352514.2(HLCS):c.1347G>C (p.Arg449Ser) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001441245]|not provided [RCV000484482] Chr21:36936539 [GRCh38]
Chr21:38308839 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001352514.2(HLCS):c.1390G>T (p.Val464Leu) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001405509]|not provided [RCV000478103] Chr21:36936496 [GRCh38]
Chr21:38308796 [GRCh37]
Chr21:21q22.13
likely benign|uncertain significance
NM_001352514.2(HLCS):c.569_585delinsTTGCTTGAGATTAAGCCTGAGATTAAGG (p.Pro190_Ser195delinsLeuAlaTer) indel not provided [RCV000479512] Chr21:36937301..36937317 [GRCh38]
Chr21:38309601..38309617 [GRCh37]
Chr21:21q22.13
likely pathogenic
NM_001352514.2(HLCS):c.445G>A (p.Glu149Lys) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001139291]|not provided [RCV000487407] Chr21:36938880 [GRCh38]
Chr21:38311180 [GRCh37]
Chr21:21q22.13
likely pathogenic|uncertain significance
NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000492067] Chr21:36765148 [GRCh38]
Chr21:38137449 [GRCh37]
Chr21:21q22.13
likely pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 copy number loss See cases [RCV000510798] Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000558830] Chr21:36930321 [GRCh38]
Chr21:38302621 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.1845A>G (p.Val615=) single nucleotide variant not specified [RCV000612178] Chr21:36896907 [GRCh38]
Chr21:38269207 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.477A>C (p.Val159=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV002064048]|not specified [RCV000612596] Chr21:36938848 [GRCh38]
Chr21:38311148 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.999G>A (p.Leu333=) single nucleotide variant not specified [RCV000610249] Chr21:36936887 [GRCh38]
Chr21:38309187 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.972C>T (p.Gly324=) single nucleotide variant not specified [RCV000612921] Chr21:36936914 [GRCh38]
Chr21:38309214 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.1617G>A (p.Ala539=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000634882]|not provided [RCV001704761] Chr21:36930254 [GRCh38]
Chr21:38302554 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_001352514.2(HLCS):c.2571C>T (p.Asp857=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001422959]|not specified [RCV000608359] Chr21:36754297 [GRCh38]
Chr21:38126598 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.2415C>T (p.Ser805=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000902130]|not specified [RCV000611100] Chr21:36756577 [GRCh38]
Chr21:38128878 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_001352514.2(HLCS):c.494-25TC[6] microsatellite not specified [RCV000606523] Chr21:36937407..36937408 [GRCh38]
Chr21:38309707..38309708 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.2544C>T (p.Gly848=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000934561]|not specified [RCV000614354] Chr21:36754324 [GRCh38]
Chr21:38126625 [GRCh37]
Chr21:21q22.13
benign|likely benign
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000927576]|not specified [RCV000604779] Chr21:36936608 [GRCh38]
Chr21:38308908 [GRCh37]
Chr21:21q22.13
benign|likely benign|conflicting interpretations of pathogenicity
NM_001352514.2(HLCS):c.1249T>C (p.Leu417=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001391848]|not specified [RCV000602245] Chr21:36936637 [GRCh38]
Chr21:38308937 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.1326C>T (p.Pro442=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001475474]|not specified [RCV000599748] Chr21:36936560 [GRCh38]
Chr21:38308860 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.1950C>T (p.Thr650=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001505168]|not specified [RCV000603836] Chr21:36767228 [GRCh38]
Chr21:38139529 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.2237-17T>G single nucleotide variant not specified [RCV000600446] Chr21:36756772 [GRCh38]
Chr21:38129073 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.1970G>A (p.Gly657Glu) single nucleotide variant not provided [RCV000512935] Chr21:36765163 [GRCh38]
Chr21:38137464 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.926C>T (p.Pro309Leu) single nucleotide variant not provided [RCV000513287] Chr21:36936960 [GRCh38]
Chr21:38309260 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.414C>T (p.Asp138=) single nucleotide variant not specified [RCV000600754] Chr21:36938911 [GRCh38]
Chr21:38311211 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.2251G>A (p.Val751Met) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000634878] Chr21:36756741 [GRCh38]
Chr21:38129042 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.2091G>A (p.Val697=) single nucleotide variant not provided [RCV000513613] Chr21:36765042 [GRCh38]
Chr21:38137343 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.2135G>A (p.Arg712Gln) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000634875] Chr21:36759828 [GRCh38]
Chr21:38132129 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000634877] Chr21:36767224 [GRCh38]
Chr21:38139525 [GRCh37]
Chr21:21q22.13
uncertain significance
GRCh37/hg19 21q22.12-22.2(chr21:36183329-42311538)x3 copy number gain See cases [RCV000512585] Chr21:36183329..42311538 [GRCh37]
Chr21:21q22.12-22.2
likely pathogenic
NM_001352514.2(HLCS):c.2567del (p.Pro856fs) deletion Holocarboxylase synthetase deficiency [RCV000672466] Chr21:36754301 [GRCh38]
Chr21:38126602 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.2501_2503dup (p.Val834dup) duplication Holocarboxylase synthetase deficiency [RCV000669192] Chr21:36754364..36754365 [GRCh38]
Chr21:38126665..38126666 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs) duplication Holocarboxylase synthetase deficiency [RCV000669246] Chr21:36756731..36756732 [GRCh38]
Chr21:38129032..38129033 [GRCh37]
Chr21:21q22.13
pathogenic|likely pathogenic
NM_001352514.2(HLCS):c.1621-2A>G single nucleotide variant Holocarboxylase synthetase deficiency [RCV000669316] Chr21:36897133 [GRCh38]
Chr21:38269433 [GRCh37]
Chr21:21q22.13
likely pathogenic
NM_001352514.2(HLCS):c.2611_2614del (p.Lys871fs) deletion Holocarboxylase synthetase deficiency [RCV000666752] Chr21:36754254..36754257 [GRCh38]
Chr21:38126555..38126558 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.2519G>C (p.Gly840Ala) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000668654]|not specified [RCV001731866] Chr21:36754349 [GRCh38]
Chr21:38126650 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.2451-1G>A single nucleotide variant Holocarboxylase synthetase deficiency [RCV000722001] Chr21:36754418 [GRCh38]
Chr21:38126719 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000664908] Chr21:36930342 [GRCh38]
Chr21:38302642 [GRCh37]
Chr21:21q22.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer) microsatellite Holocarboxylase synthetase deficiency [RCV000673870] Chr21:36897052..36897053 [GRCh38]
Chr21:38269352..38269353 [GRCh37]
Chr21:21q22.13
pathogenic|likely pathogenic
NM_001352514.2(HLCS):c.1620+1G>A single nucleotide variant Holocarboxylase synthetase deficiency [RCV000670192] Chr21:36930250 [GRCh38]
Chr21:38302550 [GRCh37]
Chr21:21q22.13
likely pathogenic
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000674861]|not specified [RCV002232807] Chr21:36756651 [GRCh38]
Chr21:38128952 [GRCh37]
Chr21:21q22.13
conflicting interpretations of pathogenicity|uncertain significance
NM_001352514.2(HLCS):c.2587_2588del (p.Met863fs) deletion Holocarboxylase synthetase deficiency [RCV000674881] Chr21:36754280..36754281 [GRCh38]
Chr21:38126581..38126582 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.2268_2270del (p.Thr757del) deletion Holocarboxylase synthetase deficiency [RCV000671802] Chr21:36756722..36756724 [GRCh38]
Chr21:38129023..38129025 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.442A>C (p.Met148Leu) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000674892] Chr21:36938883 [GRCh38]
Chr21:38311183 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.712_713del (p.Arg238fs) deletion Holocarboxylase synthetase deficiency [RCV000672511] Chr21:36937173..36937174 [GRCh38]
Chr21:38309473..38309474 [GRCh37]
Chr21:21q22.13
likely pathogenic
NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000669070] Chr21:36754341 [GRCh38]
Chr21:38126642 [GRCh37]
Chr21:21q22.13
likely pathogenic
NM_001352514.2(HLCS):c.442A>G (p.Met148Val) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000674632] Chr21:36938883 [GRCh38]
Chr21:38311183 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.941A>C (p.Tyr314Ser) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000674252] Chr21:36936945 [GRCh38]
Chr21:38309245 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.2280dup (p.Asn761fs) duplication Holocarboxylase synthetase deficiency [RCV000666043] Chr21:36756711..36756712 [GRCh38]
Chr21:38129012..38129013 [GRCh37]
Chr21:21q22.13
likely pathogenic
NM_001352514.2(HLCS):c.2121+1G>A single nucleotide variant Holocarboxylase synthetase deficiency [RCV000664724] Chr21:36765011 [GRCh38]
Chr21:38137312 [GRCh37]
Chr21:21q22.13
likely pathogenic|conflicting interpretations of pathogenicity
NM_001352514.2(HLCS):c.1418dup (p.Glu474fs) duplication Holocarboxylase synthetase deficiency [RCV000667420] Chr21:36936467..36936468 [GRCh38]
Chr21:38308767..38308768 [GRCh37]
Chr21:21q22.13
pathogenic|likely pathogenic
GRCh37/hg19 21q22.11-22.2(chr21:33980213-42542987)x3 copy number gain not provided [RCV000684166] Chr21:33980213..42542987 [GRCh37]
Chr21:21q22.11-22.2
pathogenic
NM_001352514.2(HLCS):c.691G>T (p.Glu231Ter) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000702080] Chr21:36937195 [GRCh38]
Chr21:38309495 [GRCh37]
Chr21:21q22.13
pathogenic
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000707072] Chr21:36936841 [GRCh38]
Chr21:38309141 [GRCh37]
Chr21:21q22.13
pathogenic
NM_001352514.2(HLCS):c.1093G>T (p.Val365Phe) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000691542]|not provided [RCV001805808] Chr21:36936793 [GRCh38]
Chr21:38309093 [GRCh37]
Chr21:21q22.13
uncertain significance
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.13(chr21:37986925-38165381)x3 copy number gain not provided [RCV000741562] Chr21:37986925..38165381 [GRCh37]
Chr21:21q22.13
benign
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
NM_001352514.2(HLCS):c.2450+287C>T single nucleotide variant not provided [RCV001680138] Chr21:36756255 [GRCh38]
Chr21:38128556 [GRCh37]
Chr21:21q22.13
benign
NM_001352514.2(HLCS):c.331-6927G>A single nucleotide variant not provided [RCV001611266] Chr21:36945921 [GRCh38]
Chr21:38318221 [GRCh37]
Chr21:21q22.13
benign
NM_001352514.2(HLCS):c.1438-150C>T single nucleotide variant not provided [RCV001679298] Chr21:36930583 [GRCh38]
Chr21:38302883 [GRCh37]
Chr21:21q22.13
benign
NM_001352514.2(HLCS):c.*272C>T single nucleotide variant not provided [RCV001546415] Chr21:36753974 [GRCh38]
Chr21:38126275 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.696T>C (p.Pro232=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001273206]|not provided [RCV000938544] Chr21:36937190 [GRCh38]
Chr21:38309490 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.1119C>T (p.Pro373=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000978853] Chr21:36936767 [GRCh38]
Chr21:38309067 [GRCh37]
Chr21:21q22.13
likely benign
NC_000021.9:g.(?_36765002)_(36767295_?)del deletion Holocarboxylase synthetase deficiency [RCV001032320] Chr21:38137303..38139596 [GRCh37]
Chr21:21q22.13
pathogenic
NM_001352514.2(HLCS):c.1893-279A>C single nucleotide variant not provided [RCV001580984] Chr21:36767564 [GRCh38]
Chr21:38139865 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.989G>C (p.Arg330Pro) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001067305] Chr21:36936897 [GRCh38]
Chr21:38309197 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.581C>T (p.Pro194Leu) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001046058] Chr21:36937305 [GRCh38]
Chr21:38309605 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.1962A>G (p.Gly654=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001494392]|not provided [RCV000944845] Chr21:36765171 [GRCh38]
Chr21:38137472 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.816C>T (p.Ala272=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000925802] Chr21:36937070 [GRCh38]
Chr21:38309370 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.981C>T (p.His327=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001491016]|not provided [RCV000943918] Chr21:36936905 [GRCh38]
Chr21:38309205 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.2208C>T (p.Leu736=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV002066077]|not provided [RCV000928649] Chr21:36759755 [GRCh38]
Chr21:38132056 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.2283C>T (p.Asn761=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000902710] Chr21:36756709 [GRCh38]
Chr21:38129010 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.951C>T (p.Ser317=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000875967] Chr21:36936935 [GRCh38]
Chr21:38309235 [GRCh37]
Chr21:21q22.13
likely benign|conflicting interpretations of pathogenicity
NM_001352514.2(HLCS):c.519G>C (p.Leu173=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000928346] Chr21:36937367 [GRCh38]
Chr21:38309667 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.2526C>T (p.Leu842=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000901475] Chr21:36754342 [GRCh38]
Chr21:38126643 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.2476G>A (p.Ala826Thr) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001041847] Chr21:36754392 [GRCh38]
Chr21:38126693 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.1480C>T (p.Pro494Ser) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001051496] Chr21:36930391 [GRCh38]
Chr21:38302691 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.1922G>T (p.Gly641Val) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001057509] Chr21:36767256 [GRCh38]
Chr21:38139557 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.1194C>T (p.Thr398=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000926527] Chr21:36936692 [GRCh38]
Chr21:38308992 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.493+10T>C single nucleotide variant Holocarboxylase synthetase deficiency [RCV001430171]|not provided [RCV000980431] Chr21:36938822 [GRCh38]
Chr21:38311122 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.1686C>G (p.Ser562=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001488975]|not provided [RCV000930888] Chr21:36897066 [GRCh38]
Chr21:38269366 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.783C>T (p.Asn261=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV002065544]|not provided [RCV000888716] Chr21:36937103 [GRCh38]
Chr21:38309403 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.1290C>T (p.Ser430=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000942074] Chr21:36936596 [GRCh38]
Chr21:38308896 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.1621-9A>G single nucleotide variant Holocarboxylase synthetase deficiency [RCV000941019] Chr21:36897140 [GRCh38]
Chr21:38269440 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.2505C>A (p.Gly835=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000942076] Chr21:36754363 [GRCh38]
Chr21:38126664 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.1668C>A (p.Ser556=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001448420]|not provided [RCV000928897] Chr21:36897084 [GRCh38]
Chr21:38269384 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.1989T>C (p.Pro663=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001404696]|not provided [RCV000944218] Chr21:36765144 [GRCh38]
Chr21:38137445 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.2450+136C>T single nucleotide variant Holocarboxylase synthetase deficiency [RCV001527309]|not provided [RCV000835539] Chr21:36756406 [GRCh38]
Chr21:38128707 [GRCh37]
Chr21:21q22.13
benign
NM_001352514.2(HLCS):c.1496T>A (p.Leu499Ter) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000802952] Chr21:36930375 [GRCh38]
Chr21:38302675 [GRCh37]
Chr21:21q22.13
pathogenic
NM_001352514.2(HLCS):c.1918A>G (p.Met640Val) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000799673] Chr21:36767260 [GRCh38]
Chr21:38139561 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.1328T>G (p.Val443Gly) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000817813] Chr21:36936558 [GRCh38]
Chr21:38308858 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.462G>A (p.Met154Ile) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000891681] Chr21:36938863 [GRCh38]
Chr21:38311163 [GRCh37]
Chr21:21q22.13
likely benign
NM_001352514.2(HLCS):c.900G>A (p.Arg300=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000871467]|not provided [RCV001672973] Chr21:36936986 [GRCh38]
Chr21:38309286 [GRCh37]
Chr21:21q22.13
benign
NM_001352514.2(HLCS):c.2236+180A>G single nucleotide variant not provided [RCV000840408] Chr21:36759547 [GRCh38]
Chr21:38131848 [GRCh37]
Chr21:21q22.13
benign
NM_001352514.2(HLCS):c.609C>T (p.Asp203=) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000937610] Chr21:36937277 [GRCh38]
Chr21:38309577 [GRCh37]
Chr21:21q22.13
likely benign|conflicting interpretations of pathogenicity
NM_001352514.2(HLCS):c.1025dup (p.Tyr342Ter) duplication Holocarboxylase synthetase deficiency [RCV000810578] Chr21:36936860..36936861 [GRCh38]
Chr21:38309160..38309161 [GRCh37]
Chr21:21q22.13
pathogenic
NM_001352514.2(HLCS):c.1151T>G (p.Leu384Arg) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000815726] Chr21:36936735 [GRCh38]
Chr21:38309035 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.2267C>G (p.Pro756Arg) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000824293] Chr21:36756725 [GRCh38]
Chr21:38129026 [GRCh37]
Chr21:21q22.13
uncertain significance
GRCh37/hg19 21q22.13(chr21:38137049-38486344)x1 copy number loss not provided [RCV001007130] Chr21:38137049..38486344 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*2647T>A single nucleotide variant Holocarboxylase synthetase deficiency [RCV001136738] Chr21:36751599 [GRCh38]
Chr21:38123900 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.*1094T>C single nucleotide variant Holocarboxylase synthetase deficiency [RCV001136838] Chr21:36753152 [GRCh38]
Chr21:38125453 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.652G>A (p.Glu218Lys) single nucleotide variant Holocarboxylase synthetase deficiency [RCV001137043] Chr21:36937234 [GRCh38]
Chr21:38309534 [GRCh37]
Chr21:21q22.13
uncertain significance
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala) single nucleotide variant Holocarboxylase synthetase deficiency [RCV000990348]|not specified [RCV001779097] Chr21:36754283 [GRC