HELLS (helicase, lymphoid specific) - Rat Genome Database

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Gene: HELLS (helicase, lymphoid specific) Homo sapiens
Analyze
Symbol: HELLS
Name: helicase, lymphoid specific
RGD ID: 1346644
HGNC Page HGNC:4861
Description: Predicted to enable chromatin binding activity. Predicted to be involved in kidney development; lymphocyte proliferation; and negative regulation of gene expression, epigenetic. Predicted to act upstream of or within several processes, including cellular response to leukemia inhibitory factor; chromatin organization; and negative regulation of intrinsic apoptotic signaling pathway. Predicted to be located in chromosome, centromeric region. Predicted to be part of pericentric heterochromatin. Predicted to be active in nucleus. Implicated in immunodeficiency-centromeric instability-facial anomalies syndrome 4. Biomarker of high grade glioma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ10339; helicase, lymphoid-specific; ICF4; LSH; lymphoid-specific helicase; Nbla10143; PASG; proliferation-associated SNF2-like protein; SALNR; Senescence Associated Long Non-coding RNA; SMARCA6; SWI/SNF2-related matrix-associated actin-dependent regulator of chromatin subfamily A member 6; SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6
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
NCBI Annotation Information: Note: The sequence defining GeneID 220513, which was based on XM_017508.4 and annotated on 12q13.12, currently corresponds to this locus. [08 Feb 2009]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381094,545,788 - 94,613,905 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1094,545,329 - 94,613,905 (+)EnsemblGRCh38hg38GRCh38
GRCh371096,305,545 - 96,361,856 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361096,295,564 - 96,351,846 (+)NCBINCBI36Build 36hg18NCBI36
Build 341096,295,563 - 96,351,845NCBI
Celera1090,045,660 - 90,101,938 (+)NCBICelera
Cytogenetic Map10q23.33NCBI
HuRef1089,932,081 - 89,988,296 (+)NCBIHuRef
CHM1_11096,587,374 - 96,643,612 (+)NCBICHM1_1
T2T-CHM13v2.01095,424,900 - 95,493,015 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
(S)-nicotine  (ISO)
1,2-dichloroethane  (ISO)
1,4-dioxane  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1-naphthyl isothiocyanate  (ISO)
14-Deoxy-11,12-didehydroandrographolide  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxynon-2-enal  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
acrolein  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
aflatoxin M1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-pinene  (EXP)
amitrole  (ISO)
anthracene-1,8,9-triol  (ISO)
atrazine  (ISO)
azathioprine  (EXP)
bazedoxifene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
butylated hydroxyanisole  (ISO)
cadmium dichloride  (ISO)
caffeine  (EXP,ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
cefaloridine  (ISO)
chlorpyrifos  (ISO)
cholic acid  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
coumarin  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
deguelin  (EXP)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diethylstilbestrol  (EXP)
dioxygen  (EXP,ISO)
Enterolactone  (EXP)
flurbiprofen  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
glycerol 2-phosphate  (EXP)
indole-3-methanol  (ISO)
irinotecan  (EXP)
iron dichloride  (ISO)
iron trichloride  (ISO)
ivermectin  (EXP)
L-ascorbic acid  (EXP)
Lasiocarpine  (EXP)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
Mezerein  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
nicotine  (ISO)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
palytoxin  (ISO)
paracetamol  (EXP,ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenethyl isothiocyanate  (EXP)
phenobarbital  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
picoxystrobin  (EXP)
pirinixic acid  (EXP,ISO)
progesterone  (EXP,ISO)
quercetin  (EXP)
resveratrol  (EXP,ISO)
saccharin  (ISO)
SB 431542  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (EXP)
sodium nitrite  (ISO)
styrene oxide  (ISO)
succimer  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
topotecan  (ISO)
tremolite asbestos  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vincristine  (EXP)
vorinostat  (EXP)
zinc dichloride  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
5. Growth retardation and premature aging phenotypes in mice with disruption of the SNF2-like gene, PASG. Sun LQ, etal., Genes Dev. 2004 May 1;18(9):1035-46. Epub 2004 Apr 22.
6. Chromatin Remodeling Factor LSH is Upregulated by the LRP6-GSK3ß-E2F1 Axis Linking Reversely with Survival in Gliomas. Xiao D, etal., Theranostics. 2017 Jan 1;7(1):132-143. doi: 10.7150/thno.17032. eCollection 2017.
Additional References at PubMed
PMID:8619474   PMID:8889549   PMID:9110174   PMID:9878251   PMID:10910076   PMID:12477932   PMID:12880961   PMID:14702039   PMID:15164054   PMID:15305370   PMID:15489334   PMID:17314511  
PMID:17353931   PMID:17643375   PMID:17967891   PMID:18948754   PMID:19064572   PMID:19561196   PMID:20400365   PMID:20467437   PMID:21453717   PMID:21549307   PMID:21832049   PMID:21873635  
PMID:22157815   PMID:22946062   PMID:23383273   PMID:24711643   PMID:24797263   PMID:25281560   PMID:25338120   PMID:25351940   PMID:25609649   PMID:25817432   PMID:25921289   PMID:26186194  
PMID:26216346   PMID:26344197   PMID:26496610   PMID:26972000   PMID:27302170   PMID:27634302   PMID:27684187   PMID:27880917   PMID:28069330   PMID:28514442   PMID:28515276   PMID:28712289  
PMID:28900510   PMID:28977666   PMID:28986522   PMID:29109788   PMID:29117863   PMID:29339483   PMID:29568061   PMID:29659838   PMID:29778605   PMID:30010917   PMID:30154076   PMID:30307408  
PMID:30415952   PMID:30516846   PMID:30554943   PMID:30737378   PMID:30779712   PMID:30804502   PMID:30833792   PMID:30948266   PMID:31010829   PMID:31066149   PMID:31073040   PMID:31091453  
PMID:31182584   PMID:31253190   PMID:31353912   PMID:31417184   PMID:31462741   PMID:31586073   PMID:31594538   PMID:31802118   PMID:31871319   PMID:32296183   PMID:32416067   PMID:32466590  
PMID:32513696   PMID:32727902   PMID:32994405   PMID:33082427   PMID:33170271   PMID:33239621   PMID:33288900   PMID:33306668   PMID:33460027   PMID:33462405   PMID:33504766   PMID:33545068  
PMID:33658012   PMID:33729478   PMID:33742100   PMID:33916271   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34493821   PMID:34795231   PMID:35013556   PMID:35140242   PMID:35271311  
PMID:35311456   PMID:35320721   PMID:35384245   PMID:35439318   PMID:35509820   PMID:35545047   PMID:35563538   PMID:35654790   PMID:35774795   PMID:35844135   PMID:35944360   PMID:36012581  
PMID:36089195   PMID:36215168   PMID:36232890   PMID:36373674   PMID:36774506   PMID:37252915   PMID:37689310   PMID:37827155  


Genomics

Comparative Map Data
HELLS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381094,545,788 - 94,613,905 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1094,545,329 - 94,613,905 (+)EnsemblGRCh38hg38GRCh38
GRCh371096,305,545 - 96,361,856 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361096,295,564 - 96,351,846 (+)NCBINCBI36Build 36hg18NCBI36
Build 341096,295,563 - 96,351,845NCBI
Celera1090,045,660 - 90,101,938 (+)NCBICelera
Cytogenetic Map10q23.33NCBI
HuRef1089,932,081 - 89,988,296 (+)NCBIHuRef
CHM1_11096,587,374 - 96,643,612 (+)NCBICHM1_1
T2T-CHM13v2.01095,424,900 - 95,493,015 (+)NCBIT2T-CHM13v2.0
Hells
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391938,913,282 - 38,958,914 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1938,919,359 - 38,959,495 (+)EnsemblGRCm39 Ensembl
GRCm381938,930,262 - 38,970,470 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1938,930,915 - 38,971,051 (+)EnsemblGRCm38mm10GRCm38
MGSCv371939,005,480 - 39,042,767 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361938,996,134 - 39,033,421 (+)NCBIMGSCv36mm8
Celera1939,732,380 - 39,769,659 (+)NCBICelera
Cytogenetic Map19C3NCBI
cM Map1933.57NCBI
Hells
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81246,113,580 - 246,159,230 (+)NCBIGRCr8
mRatBN7.21236,701,704 - 236,748,239 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1236,701,758 - 236,746,844 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1245,125,577 - 245,167,789 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01252,018,896 - 252,061,072 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01244,857,143 - 244,899,325 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01257,901,856 - 257,953,889 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1257,614,731 - 257,791,728 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl1257,766,691 - 257,949,183 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01265,357,043 - 265,402,172 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41243,246,843 - 243,262,459 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1233,793,113 - 233,835,276 (+)NCBICelera
Cytogenetic Map1q53NCBI
Hells
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955507990,429 - 1,034,852 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955507995,389 - 1,034,852 (+)NCBIChiLan1.0ChiLan1.0
HELLS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28106,573,712 - 106,642,121 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110106,579,467 - 106,647,438 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01091,282,330 - 91,344,156 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11094,790,137 - 94,847,209 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1094,790,292 - 94,847,209 (+)Ensemblpanpan1.1panPan2
HELLS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1288,660,866 - 8,705,570 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl288,661,008 - 8,705,580 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha288,837,652 - 8,882,362 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0288,924,517 - 8,969,255 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl288,924,655 - 8,969,265 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1288,640,526 - 8,685,234 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0288,671,482 - 8,716,173 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0288,842,995 - 8,887,709 (+)NCBIUU_Cfam_GSD_1.0
Hells
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721338,989,077 - 39,029,670 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936601626,823 - 662,465 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936601626,354 - 662,477 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HELLS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14105,924,536 - 105,955,430 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114105,923,727 - 105,967,003 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214115,770,403 - 115,812,864 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HELLS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1987,780,897 - 87,835,087 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl987,796,502 - 87,834,619 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604848,579,766 - 48,645,153 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hells
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247375,892,705 - 5,954,364 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HELLS
320 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1 copy number loss See cases [RCV000052564] Chr10:92626680..97755102 [GRCh38]
Chr10:94386437..99514859 [GRCh37]
Chr10:94376417..99504849 [NCBI36]
Chr10:10q23.33-24.2		 pathogenic
GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1 copy number loss See cases [RCV000052565] Chr10:93181201..101356779 [GRCh38]
Chr10:94940958..103116536 [GRCh37]
Chr10:94930948..103106526 [NCBI36]
Chr10:10q23.33-24.32		 pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3		 pathogenic
NM_018063.5(HELLS):c.2077G>T (p.Asp693Tyr) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [RCV001293851] Chr10:94593604 [GRCh38]
Chr10:96353361 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh38/hg38 10q23.33(chr10:94298267-95267990)x1 copy number loss See cases [RCV000134773] Chr10:94298267..95267990 [GRCh38]
Chr10:96058024..97027747 [GRCh37]
Chr10:96048014..97017737 [NCBI36]
Chr10:10q23.33		 uncertain significance
GRCh38/hg38 10q23.33-24.1(chr10:94401557-95444828)x3 copy number gain See cases [RCV000137970] Chr10:94401557..95444828 [GRCh38]
Chr10:96161314..97204585 [GRCh37]
Chr10:96151304..97194575 [NCBI36]
Chr10:10q23.33-24.1		 uncertain significance
GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1 copy number loss See cases [RCV000137919] Chr10:92643919..95471137 [GRCh38]
Chr10:94403676..97230894 [GRCh37]
Chr10:94393656..97220884 [NCBI36]
Chr10:10q23.33-24.1		 pathogenic
GRCh38/hg38 10q23.33-24.1(chr10:94376979-95466604)x3 copy number gain See cases [RCV000142079] Chr10:94376979..95466604 [GRCh38]
Chr10:96136736..97226361 [GRCh37]
Chr10:96126726..97216351 [NCBI36]
Chr10:10q23.33-24.1		 uncertain significance
NM_018063.5(HELLS):c.2394GTT[2] (p.Leu801del) microsatellite Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [RCV000210910]|not provided [RCV002517446] Chr10:94597083..94597085 [GRCh38]
Chr10:96356840..96356842 [GRCh37]
Chr10:10q23.33		 pathogenic|likely pathogenic
NM_018063.5(HELLS):c.610A>T (p.Lys204Ter) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [RCV000210911] Chr10:94574092 [GRCh38]
Chr10:96333849 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_018063.5(HELLS):c.2096A>G (p.Gln699Arg) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [RCV000210912] Chr10:94594702 [GRCh38]
Chr10:96354459 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_018063.5(HELLS):c.374_381dup (p.Lys128Ter) duplication Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [RCV000210917] Chr10:94562813..94562814 [GRCh38]
Chr10:96322570..96322571 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_018063.5(HELLS):c.370+2T>A single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [RCV000210918]|not provided [RCV002515602] Chr10:94562729 [GRCh38]
Chr10:96322486 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_018063.5(HELLS):c.2283_2286del (p.Ser762fs) deletion Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [RCV000210919] Chr10:94596891..94596894 [GRCh38]
Chr10:96356648..96356651 [GRCh37]
Chr10:10q23.33		 pathogenic
GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)x1 copy number loss See cases [RCV000447362] Chr10:92667881..98970384 [GRCh37]
Chr10:10q23.31-24.1		 pathogenic
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1		 pathogenic|drug response
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3		 pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
NM_018063.5(HELLS):c.1594A>T (p.Ile532Phe) single nucleotide variant Inborn genetic diseases [RCV003273366] Chr10:94590518 [GRCh38]
Chr10:96350275 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.893C>G (p.Pro298Arg) single nucleotide variant Inborn genetic diseases [RCV003246371] Chr10:94576666 [GRCh38]
Chr10:96336423 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1 copy number loss See cases [RCV000512315] Chr10:93908171..101809723 [GRCh37]
Chr10:10q23.32-24.2		 pathogenic
GRCh37/hg19 10q23.33(chr10:96339490-96546534)x1 copy number loss not provided [RCV000683203] Chr10:96339490..96546534 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_018063.5(HELLS):c.1032+10A>T single nucleotide variant not provided [RCV000969245] Chr10:94576815 [GRCh38]
Chr10:96336572 [GRCh37]
Chr10:10q23.33		 benign
NM_018063.5(HELLS):c.993G>A (p.Thr331=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [RCV001286999]|not provided [RCV000882514] Chr10:94576766 [GRCh38]
Chr10:96336523 [GRCh37]
Chr10:10q23.33		 benign|likely benign
NM_018063.5(HELLS):c.2172A>G (p.Thr724=) single nucleotide variant not provided [RCV000971149] Chr10:94594778 [GRCh38]
Chr10:96354535 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.2091C>T (p.Asn697=) single nucleotide variant not provided [RCV000898882] Chr10:94594697 [GRCh38]
Chr10:96354454 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1488+6G>A single nucleotide variant HELLS-related condition [RCV003955787]|not provided [RCV000879277] Chr10:94588396 [GRCh38]
Chr10:96348153 [GRCh37]
Chr10:10q23.33		 benign
NM_018063.5(HELLS):c.2182A>G (p.Ile728Val) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [RCV003224496]|not provided [RCV000947272] Chr10:94594788 [GRCh38]
Chr10:96354545 [GRCh37]
Chr10:10q23.33		 likely benign|uncertain significance
NM_018063.5(HELLS):c.334G>A (p.Gly112Ser) single nucleotide variant HELLS-related condition [RCV003928552]|Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [RCV001803181]|not provided [RCV000973245] Chr10:94562691 [GRCh38]
Chr10:96322448 [GRCh37]
Chr10:10q23.33		 benign|likely benign
NM_018063.5(HELLS):c.2118T>C (p.Asp706=) single nucleotide variant not provided [RCV000968189] Chr10:94594724 [GRCh38]
Chr10:96354481 [GRCh37]
Chr10:10q23.33		 benign
NM_018063.5(HELLS):c.1965A>G (p.Glu655=) single nucleotide variant not provided [RCV000880629] Chr10:94592508 [GRCh38]
Chr10:96352265 [GRCh37]
Chr10:10q23.33		 benign
NM_018063.5(HELLS):c.1989G>A (p.Thr663=) single nucleotide variant not provided [RCV000982459] Chr10:94593516 [GRCh38]
Chr10:96353273 [GRCh37]
Chr10:10q23.33		 benign
GRCh37/hg19 10q23.33-24.1(chr10:94393383-97219175) copy number loss not provided [RCV000767566] Chr10:94393383..97219175 [GRCh37]
Chr10:10q23.33-24.1		 likely pathogenic
NM_018063.5(HELLS):c.1033-9G>A single nucleotide variant HELLS-related condition [RCV003978081]|not provided [RCV000930115] Chr10:94581317 [GRCh38]
Chr10:96341074 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1246G>A (p.Asp416Asn) single nucleotide variant Inborn genetic diseases [RCV003243897] Chr10:94582979 [GRCh38]
Chr10:96342736 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1771G>A (p.Asp591Asn) single nucleotide variant Inborn genetic diseases [RCV003266852] Chr10:94592232 [GRCh38]
Chr10:96351989 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.2427A>G (p.Gln809=) single nucleotide variant not provided [RCV000916963] Chr10:94601532 [GRCh38]
Chr10:96361289 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.918G>A (p.Gln306=) single nucleotide variant not provided [RCV000898256] Chr10:94576691 [GRCh38]
Chr10:96336448 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.913A>G (p.Thr305Ala) single nucleotide variant HELLS-related condition [RCV003970416]|Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [RCV003754892]|not provided [RCV000915033] Chr10:94576686 [GRCh38]
Chr10:96336443 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.385del (p.Arg129fs) deletion not provided [RCV001213800] Chr10:94562820 [GRCh38]
Chr10:96322577 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_018063.5(HELLS):c.1258C>G (p.Leu420Val) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [RCV001000599]|Inborn genetic diseases [RCV002549136]|not provided [RCV001344124] Chr10:94582991 [GRCh38]
Chr10:96342748 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10q23.33(chr10:96018893-96371928)x3 copy number gain not provided [RCV001006348] Chr10:96018893..96371928 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.411T>G (p.Asn137Lys) single nucleotide variant not provided [RCV001964046] Chr10:94562852 [GRCh38]
Chr10:96322609 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1971C>T (p.Asn657=) single nucleotide variant not provided [RCV000879614] Chr10:94592514 [GRCh38]
Chr10:96352271 [GRCh37]
Chr10:10q23.33		 benign
NM_018063.5(HELLS):c.2446A>G (p.Ile816Val) single nucleotide variant not provided [RCV000974255] Chr10:94601551 [GRCh38]
Chr10:96361308 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.153+10G>T single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [RCV003754899]|not provided [RCV000960919] Chr10:94546508 [GRCh38]
Chr10:96306265 [GRCh37]
Chr10:10q23.33		 benign
NM_018063.5(HELLS):c.2T>C (p.Met1Thr) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [RCV003224486]|not provided [RCV000889044] Chr10:94545923 [GRCh38]
Chr10:96305680 [GRCh37]
Chr10:10q23.33		 benign|likely benign
NM_018063.5(HELLS):c.2271T>C (p.Ser757=) single nucleotide variant not provided [RCV000913303] Chr10:94596882 [GRCh38]
Chr10:96356639 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.270A>G (p.Gln90=) single nucleotide variant HELLS-related condition [RCV003903295]|Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [RCV003117653]|not provided [RCV000956850] Chr10:94554242 [GRCh38]
Chr10:96313999 [GRCh37]
Chr10:10q23.33		 benign
NM_018063.5(HELLS):c.276+10T>C single nucleotide variant not provided [RCV000912230] Chr10:94554258 [GRCh38]
Chr10:96314015 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1932G>A (p.Arg644=) single nucleotide variant not provided [RCV000912231] Chr10:94592475 [GRCh38]
Chr10:96352232 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.277-3C>T single nucleotide variant not provided [RCV001350028] Chr10:94558136 [GRCh38]
Chr10:96317893 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10q23.33-24.1(chr10:96140621-97222801)x3 copy number gain not provided [RCV001258459] Chr10:96140621..97222801 [GRCh37]
Chr10:10q23.33-24.1		 uncertain significance
NM_018063.5(HELLS):c.1537A>G (p.Arg513Gly) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [RCV001329040]|not provided [RCV001863196] Chr10:94590461 [GRCh38]
Chr10:96350218 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.775A>G (p.Ile259Val) single nucleotide variant not provided [RCV001343410] Chr10:94574623 [GRCh38]
Chr10:96334380 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1988C>T (p.Thr663Met) single nucleotide variant Inborn genetic diseases [RCV002547534]|not provided [RCV001351664] Chr10:94593515 [GRCh38]
Chr10:96353272 [GRCh37]
Chr10:10q23.33		 likely benign|uncertain significance
NM_018063.5(HELLS):c.31G>T (p.Gly11Cys) single nucleotide variant not provided [RCV001315507] Chr10:94545952 [GRCh38]
Chr10:96305709 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.360A>G (p.Glu120=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [RCV001334977]|not provided [RCV002070195] Chr10:94562717 [GRCh38]
Chr10:96322474 [GRCh37]
Chr10:10q23.33		 likely benign|uncertain significance
NM_018063.5(HELLS):c.334-19C>T single nucleotide variant not provided [RCV001513436] Chr10:94562672 [GRCh38]
Chr10:96322429 [GRCh37]
Chr10:10q23.33		 benign
NM_018063.5(HELLS):c.33C>A (p.Gly11=) single nucleotide variant not provided [RCV001482651] Chr10:94546378 [GRCh38]
Chr10:96306135 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1179T>G (p.Leu393=) single nucleotide variant not provided [RCV001492968] Chr10:94581472 [GRCh38]
Chr10:96341229 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.930A>G (p.Gln310=) single nucleotide variant not provided [RCV001400499] Chr10:94576703 [GRCh38]
Chr10:96336460 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.31+20T>C single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [RCV001703104]|not provided [RCV001515513] Chr10:94545972 [GRCh38]
Chr10:96305729 [GRCh37]
Chr10:10q23.33		 benign
NM_018063.5(HELLS):c.231A>C (p.Ile77=) single nucleotide variant Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [RCV001702902]|not provided [RCV001518649] Chr10:94554203 [GRCh38]
Chr10:96313960 [GRCh37]
Chr10:10q23.33		 benign
NM_018063.5(HELLS):c.1488+14G>A single nucleotide variant not provided [RCV001519583] Chr10:94588404 [GRCh38]
Chr10:96348161 [GRCh37]
Chr10:10q23.33		 benign
NM_018063.5(HELLS):c.1033-17C>T single nucleotide variant not provided [RCV001397861] Chr10:94581309 [GRCh38]
Chr10:96341066 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.671G>A (p.Arg224Gln) single nucleotide variant not provided [RCV001888925] Chr10:94574153 [GRCh38]
Chr10:96333910 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1874C>T (p.Thr625Ile) single nucleotide variant not provided [RCV002024761] Chr10:94592417 [GRCh38]
Chr10:96352174 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.329A>G (p.Lys110Arg) single nucleotide variant not provided [RCV001971222] Chr10:94558191 [GRCh38]
Chr10:96317948 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1631C>G (p.Ala544Gly) single nucleotide variant not provided [RCV001909999] Chr10:94590640 [GRCh38]
Chr10:96350397 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.31G>C (p.Gly11Arg) single nucleotide variant not provided [RCV001864552] Chr10:94545952 [GRCh38]
Chr10:96305709 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1844G>C (p.Gly615Ala) single nucleotide variant not provided [RCV001864148] Chr10:94592305 [GRCh38]
Chr10:96352062 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1817G>T (p.Arg606Leu) single nucleotide variant not provided [RCV002044748] Chr10:94592278 [GRCh38]
Chr10:96352035 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1441A>G (p.Thr481Ala) single nucleotide variant not provided [RCV002045027] Chr10:94588343 [GRCh38]
Chr10:96348100 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1257T>G (p.Ser419Arg) single nucleotide variant not provided [RCV001986838] Chr10:94582990 [GRCh38]
Chr10:96342747 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.14G>A (p.Arg5Gln) single nucleotide variant not provided [RCV002021955] Chr10:94545935 [GRCh38]
Chr10:96305692 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.569C>T (p.Thr190Met) single nucleotide variant not provided [RCV002001910] Chr10:94574051 [GRCh38]
Chr10:96333808 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.2428A>C (p.Met810Leu) single nucleotide variant not provided [RCV001889451] Chr10:94601533 [GRCh38]
Chr10:96361290 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1747C>A (p.Pro583Thr) single nucleotide variant not provided [RCV002005712] Chr10:94590756 [GRCh38]
Chr10:96350513 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1693A>G (p.Met565Val) single nucleotide variant not provided [RCV001964662] Chr10:94590702 [GRCh38]
Chr10:96350459 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.410A>G (p.Asn137Ser) single nucleotide variant not provided [RCV001984478] Chr10:94562851 [GRCh38]
Chr10:96322608 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1534A>G (p.Thr512Ala) single nucleotide variant not provided [RCV001928126] Chr10:94590458 [GRCh38]
Chr10:96350215 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.2404G>A (p.Asp802Asn) single nucleotide variant not provided [RCV002044594] Chr10:94597093 [GRCh38]
Chr10:96356850 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.346A>G (p.Ile116Val) single nucleotide variant not provided [RCV001908035] Chr10:94562703 [GRCh38]
Chr10:96322460 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.465_467del (p.Lys156del) deletion not provided [RCV001966678] Chr10:94571415..94571417 [GRCh38]
Chr10:96331172..96331174 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.2419A>G (p.Ile807Val) single nucleotide variant not provided [RCV002007702] Chr10:94597108 [GRCh38]
Chr10:96356865 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384) copy number loss not specified [RCV002052882] Chr10:92667881..98970384 [GRCh37]
Chr10:10q23.31-24.1		 pathogenic
GRCh37/hg19 10q23.33-24.1(chr10:96136737-97224160)x3 copy number gain not provided [RCV001829229] Chr10:96136737..97224160 [GRCh37]
Chr10:10q23.33-24.1		 uncertain significance
NM_018063.5(HELLS):c.1574C>G (p.Pro525Arg) single nucleotide variant not provided [RCV002021929] Chr10:94590498 [GRCh38]
Chr10:96350255 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1520G>A (p.Arg507Gln) single nucleotide variant not provided [RCV001985191] Chr10:94590444 [GRCh38]
Chr10:96350201 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.13C>T (p.Arg5Trp) single nucleotide variant not provided [RCV001986550] Chr10:94545934 [GRCh38]
Chr10:96305691 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1873A>G (p.Thr625Ala) single nucleotide variant not provided [RCV002005087] Chr10:94592416 [GRCh38]
Chr10:96352173 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1923C>G (p.Asn641Lys) single nucleotide variant not provided [RCV001894502] Chr10:94592466 [GRCh38]
Chr10:96352223 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1410_1411delinsCT (p.Pro471Ser) indel not provided [RCV001893434] Chr10:94588312..94588313 [GRCh38]
Chr10:96348069..96348070 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1568A>T (p.Asp523Val) single nucleotide variant not provided [RCV001881709] Chr10:94590492 [GRCh38]
Chr10:96350249 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.937G>C (p.Val313Leu) single nucleotide variant not provided [RCV001880282] Chr10:94576710 [GRCh38]
Chr10:96336467 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.2001G>A (p.Val667=) single nucleotide variant not provided [RCV002048415] Chr10:94593528 [GRCh38]
Chr10:96353285 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.19G>T (p.Ala7Ser) single nucleotide variant not provided [RCV002000950] Chr10:94545940 [GRCh38]
Chr10:96305697 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.196C>T (p.Arg66Cys) single nucleotide variant not provided [RCV001982470] Chr10:94554168 [GRCh38]
Chr10:96313925 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.2458A>G (p.Met820Val) single nucleotide variant not provided [RCV001897225] Chr10:94601563 [GRCh38]
Chr10:96361320 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.628G>A (p.Val210Ile) single nucleotide variant not provided [RCV001887884] Chr10:94574110 [GRCh38]
Chr10:96333867 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1529G>T (p.Arg510Leu) single nucleotide variant not provided [RCV001881462] Chr10:94590453 [GRCh38]
Chr10:96350210 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.613T>C (p.Cys205Arg) single nucleotide variant not provided [RCV001961043] Chr10:94574095 [GRCh38]
Chr10:96333852 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.2423-5C>G single nucleotide variant not provided [RCV001942622] Chr10:94601523 [GRCh38]
Chr10:96361280 [GRCh37]
Chr10:10q23.33		 likely benign|uncertain significance
NM_018063.5(HELLS):c.1577A>C (p.Asn526Thr) single nucleotide variant not provided [RCV001957537] Chr10:94590501 [GRCh38]
Chr10:96350258 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1689A>G (p.Ile563Met) single nucleotide variant not provided [RCV001876435] Chr10:94590698 [GRCh38]
Chr10:96350455 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.469_471del (p.Glu157del) deletion not provided [RCV002013083] Chr10:94571419..94571421 [GRCh38]
Chr10:96331176..96331178 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.46G>C (p.Ala16Pro) single nucleotide variant Inborn genetic diseases [RCV002551686]|not provided [RCV001880663] Chr10:94546391 [GRCh38]
Chr10:96306148 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.705+6G>T single nucleotide variant not provided [RCV001932790] Chr10:94574193 [GRCh38]
Chr10:96333950 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.179C>T (p.Ser60Leu) single nucleotide variant not provided [RCV001918451] Chr10:94554151 [GRCh38]
Chr10:96313908 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1838A>G (p.Lys613Arg) single nucleotide variant not provided [RCV002031363] Chr10:94592299 [GRCh38]
Chr10:96352056 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.350A>G (p.Asp117Gly) single nucleotide variant not provided [RCV001867019] Chr10:94562707 [GRCh38]
Chr10:96322464 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.2275T>A (p.Leu759Ile) single nucleotide variant not provided [RCV001982331] Chr10:94596886 [GRCh38]
Chr10:96356643 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.158G>A (p.Arg53His) single nucleotide variant not provided [RCV001989733] Chr10:94554130 [GRCh38]
Chr10:96313887 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.96_105del (p.Glu32fs) deletion not provided [RCV001880439] Chr10:94546440..94546449 [GRCh38]
Chr10:96306197..96306206 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_018063.5(HELLS):c.1009A>G (p.Met337Val) single nucleotide variant not provided [RCV001884582] Chr10:94576782 [GRCh38]
Chr10:96336539 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1616T>C (p.Val539Ala) single nucleotide variant not provided [RCV001934618] Chr10:94590540 [GRCh38]
Chr10:96350297 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1777G>A (p.Glu593Lys) single nucleotide variant not provided [RCV001999246] Chr10:94592238 [GRCh38]
Chr10:96351995 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1032+6A>G single nucleotide variant not provided [RCV001879703] Chr10:94576811 [GRCh38]
Chr10:96336568 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.2492A>T (p.Asp831Val) single nucleotide variant Inborn genetic diseases [RCV002562835]|not provided [RCV001960317] Chr10:94601597 [GRCh38]
Chr10:96361354 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1021A>C (p.Asn341His) single nucleotide variant not provided [RCV001924782] Chr10:94576794 [GRCh38]
Chr10:96336551 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.374T>C (p.Met125Thr) single nucleotide variant not provided [RCV001934785] Chr10:94562815 [GRCh38]
Chr10:96322572 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1781T>G (p.Leu594Trp) single nucleotide variant not provided [RCV001903996] Chr10:94592242 [GRCh38]
Chr10:96351999 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.136C>T (p.Arg46Trp) single nucleotide variant not provided [RCV001879081] Chr10:94546481 [GRCh38]
Chr10:96306238 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.2494T>C (p.Ser832Pro) single nucleotide variant not provided [RCV001991191] Chr10:94601599 [GRCh38]
Chr10:96361356 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.32-20A>G single nucleotide variant not provided [RCV002130819] Chr10:94546357 [GRCh38]
Chr10:96306114 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.2487T>G (p.Ser829=) single nucleotide variant not provided [RCV002207796] Chr10:94601592 [GRCh38]
Chr10:96361349 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.2184C>T (p.Ile728=) single nucleotide variant not provided [RCV002105886] Chr10:94594790 [GRCh38]
Chr10:96354547 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.2422+21del deletion not provided [RCV002124779] Chr10:94597125 [GRCh38]
Chr10:96356882 [GRCh37]
Chr10:10q23.33		 benign
NM_018063.5(HELLS):c.1437T>C (p.Phe479=) single nucleotide variant not provided [RCV002190083] Chr10:94588339 [GRCh38]
Chr10:96348096 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1972-16T>A single nucleotide variant not provided [RCV002085277] Chr10:94593483 [GRCh38]
Chr10:96353240 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.277-13A>G single nucleotide variant not provided [RCV002145202] Chr10:94558126 [GRCh38]
Chr10:96317883 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1768-4T>G single nucleotide variant not provided [RCV002127106] Chr10:94592225 [GRCh38]
Chr10:96351982 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.334-16A>T single nucleotide variant not provided [RCV002088908] Chr10:94562675 [GRCh38]
Chr10:96322432 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.333+20T>C single nucleotide variant not provided [RCV002189311] Chr10:94558215 [GRCh38]
Chr10:96317972 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.996A>G (p.Ser332=) single nucleotide variant not provided [RCV002186438] Chr10:94576769 [GRCh38]
Chr10:96336526 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.2346-11G>C single nucleotide variant not provided [RCV002090491] Chr10:94597024 [GRCh38]
Chr10:96356781 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1611A>G (p.Pro537=) single nucleotide variant not provided [RCV002191159] Chr10:94590535 [GRCh38]
Chr10:96350292 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.2070C>T (p.Ile690=) single nucleotide variant not provided [RCV002188703] Chr10:94593597 [GRCh38]
Chr10:96353354 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1032+17T>C single nucleotide variant not provided [RCV002196656] Chr10:94576822 [GRCh38]
Chr10:96336579 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.333+10C>G single nucleotide variant not provided [RCV002092965] Chr10:94558205 [GRCh38]
Chr10:96317962 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.706-18A>G single nucleotide variant not provided [RCV002169223] Chr10:94574536 [GRCh38]
Chr10:96334293 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.2422+17T>G single nucleotide variant not provided [RCV002084984] Chr10:94597128 [GRCh38]
Chr10:96356885 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.2307G>A (p.Lys769=) single nucleotide variant not provided [RCV002150146] Chr10:94596918 [GRCh38]
Chr10:96356675 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1767+7A>G single nucleotide variant not provided [RCV002195290] Chr10:94590783 [GRCh38]
Chr10:96350540 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.882A>G (p.Thr294=) single nucleotide variant not provided [RCV002153308] Chr10:94574730 [GRCh38]
Chr10:96334487 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.889-16A>G single nucleotide variant not provided [RCV002114478] Chr10:94576646 [GRCh38]
Chr10:96336403 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1489-11T>C single nucleotide variant not provided [RCV002133288] Chr10:94590402 [GRCh38]
Chr10:96350159 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.837T>C (p.Pro279=) single nucleotide variant not provided [RCV002195574] Chr10:94574685 [GRCh38]
Chr10:96334442 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1851+16G>T single nucleotide variant not provided [RCV002134251] Chr10:94592328 [GRCh38]
Chr10:96352085 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.2248+11C>T single nucleotide variant not provided [RCV002077950] Chr10:94594865 [GRCh38]
Chr10:96354622 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1575T>A (p.Pro525=) single nucleotide variant not provided [RCV002108966] Chr10:94590499 [GRCh38]
Chr10:96350256 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1401C>T (p.Val467=) single nucleotide variant not provided [RCV002115120] Chr10:94588303 [GRCh38]
Chr10:96348060 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1026G>A (p.Ala342=) single nucleotide variant not provided [RCV002113500] Chr10:94576799 [GRCh38]
Chr10:96336556 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.371-5dup duplication HELLS-related condition [RCV003923513]|not provided [RCV002195418] Chr10:94562798..94562799 [GRCh38]
Chr10:96322555..96322556 [GRCh37]
Chr10:10q23.33		 benign|likely benign
NM_018063.5(HELLS):c.1644G>T (p.Val548=) single nucleotide variant not provided [RCV002072893] Chr10:94590653 [GRCh38]
Chr10:96350410 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.370+8T>C single nucleotide variant not provided [RCV002187397] Chr10:94562735 [GRCh38]
Chr10:96322492 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.705+12G>C single nucleotide variant not provided [RCV002169376] Chr10:94574199 [GRCh38]
Chr10:96333956 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.91C>T (p.Leu31=) single nucleotide variant not provided [RCV002129755] Chr10:94546436 [GRCh38]
Chr10:96306193 [GRCh37]
Chr10:10q23.33		 benign
NM_018063.5(HELLS):c.1768-12C>T single nucleotide variant not provided [RCV002169449] Chr10:94592217 [GRCh38]
Chr10:96351974 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.31+9G>A single nucleotide variant not provided [RCV002194364] Chr10:94545961 [GRCh38]
Chr10:96305718 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.276+19C>T single nucleotide variant not provided [RCV002197152] Chr10:94554267 [GRCh38]
Chr10:96314024 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.279A>G (p.Glu93=) single nucleotide variant not provided [RCV002110431] Chr10:94558141 [GRCh38]
Chr10:96317898 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.477+12A>G single nucleotide variant not provided [RCV002155739] Chr10:94571441 [GRCh38]
Chr10:96331198 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1971+18A>G single nucleotide variant not provided [RCV002158298] Chr10:94592532 [GRCh38]
Chr10:96352289 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.2248+15T>C single nucleotide variant not provided [RCV002138134] Chr10:94594869 [GRCh38]
Chr10:96354626 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1032+15C>G single nucleotide variant not provided [RCV002179862] Chr10:94576820 [GRCh38]
Chr10:96336577 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1887C>T (p.Asp629=) single nucleotide variant not provided [RCV002200816] Chr10:94592430 [GRCh38]
Chr10:96352187 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.371-14A>T single nucleotide variant not provided [RCV002140098] Chr10:94562798 [GRCh38]
Chr10:96322555 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.157C>T (p.Arg53Cys) single nucleotide variant not provided [RCV002098009] Chr10:94554129 [GRCh38]
Chr10:96313886 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.153+16G>C single nucleotide variant not provided [RCV002216709] Chr10:94546514 [GRCh38]
Chr10:96306271 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.889-11A>C single nucleotide variant not provided [RCV002200168] Chr10:94576651 [GRCh38]
Chr10:96336408 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.370+19G>A single nucleotide variant not provided [RCV002163761] Chr10:94562746 [GRCh38]
Chr10:96322503 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.18C>T (p.Pro6=) single nucleotide variant not provided [RCV002181861] Chr10:94545939 [GRCh38]
Chr10:96305696 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1628+12A>G single nucleotide variant not provided [RCV002143923] Chr10:94590564 [GRCh38]
Chr10:96350321 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.705+14A>G single nucleotide variant not provided [RCV002144257] Chr10:94574201 [GRCh38]
Chr10:96333958 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1479A>G (p.Gly493=) single nucleotide variant not provided [RCV002119655] Chr10:94588381 [GRCh38]
Chr10:96348138 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.370+10C>G single nucleotide variant not provided [RCV002163149] Chr10:94562737 [GRCh38]
Chr10:96322494 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1582T>C (p.Leu528=) single nucleotide variant not provided [RCV002104077] Chr10:94590506 [GRCh38]
Chr10:96350263 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.456A>G (p.Lys152=) single nucleotide variant not provided [RCV002082504] Chr10:94571408 [GRCh38]
Chr10:96331165 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.478-11T>G single nucleotide variant not provided [RCV002140143] Chr10:94573949 [GRCh38]
Chr10:96333706 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1852-13T>C single nucleotide variant not provided [RCV002123992] Chr10:94592382 [GRCh38]
Chr10:96352139 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1032+15C>T single nucleotide variant not provided [RCV002177159] Chr10:94576820 [GRCh38]
Chr10:96336577 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1770C>T (p.Ile590=) single nucleotide variant not provided [RCV002220887] Chr10:94592231 [GRCh38]
Chr10:96351988 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1401C>A (p.Val467=) single nucleotide variant not provided [RCV002161839] Chr10:94588303 [GRCh38]
Chr10:96348060 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.370+9C>A single nucleotide variant not provided [RCV002137568] Chr10:94562736 [GRCh38]
Chr10:96322493 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.993G>T (p.Thr331=) single nucleotide variant not provided [RCV002178138] Chr10:94576766 [GRCh38]
Chr10:96336523 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.2249-3dup duplication HELLS-related condition [RCV003903355]|not provided [RCV002122187] Chr10:94596849..94596850 [GRCh38]
Chr10:96356606..96356607 [GRCh37]
Chr10:10q23.33		 benign|likely benign
NM_018063.5(HELLS):c.1033-15C>T single nucleotide variant not provided [RCV002099135] Chr10:94581311 [GRCh38]
Chr10:96341068 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.334-6T>C single nucleotide variant not provided [RCV002176814] Chr10:94562685 [GRCh38]
Chr10:96322442 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1046A>G (p.Lys349Arg) single nucleotide variant not provided [RCV003110791] Chr10:94581339 [GRCh38]
Chr10:96341096 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1230-7C>T single nucleotide variant not provided [RCV003118591] Chr10:94582956 [GRCh38]
Chr10:96342713 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.41C>A (p.Ala14Asp) single nucleotide variant not specified [RCV002266498] Chr10:94546386 [GRCh38]
Chr10:96306143 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10q23.33-24.1(chr10:96155285-97224160)x3 copy number gain not provided [RCV002474676] Chr10:96155285..97224160 [GRCh37]
Chr10:10q23.33-24.1		 uncertain significance
NM_018063.5(HELLS):c.19G>A (p.Ala7Thr) single nucleotide variant not provided [RCV002304679] Chr10:94545940 [GRCh38]
Chr10:96305697 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1460C>A (p.Thr487Lys) single nucleotide variant not provided [RCV002300990] Chr10:94588362 [GRCh38]
Chr10:96348119 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.25A>C (p.Ser9Arg) single nucleotide variant not provided [RCV002776314] Chr10:94545946 [GRCh38]
Chr10:96305703 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.252G>A (p.Thr84=) single nucleotide variant not provided [RCV002972592] Chr10:94554224 [GRCh38]
Chr10:96313981 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1646A>G (p.Asn549Ser) single nucleotide variant not provided [RCV002756589] Chr10:94590655 [GRCh38]
Chr10:96350412 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1293_1296del (p.Arg432fs) microsatellite not provided [RCV003015845] Chr10:94583021..94583024 [GRCh38]
Chr10:96342778..96342781 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_018063.5(HELLS):c.154-12C>T single nucleotide variant not provided [RCV003033350] Chr10:94554114 [GRCh38]
Chr10:96313871 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1774G>A (p.Glu592Lys) single nucleotide variant not provided [RCV002861343] Chr10:94592235 [GRCh38]
Chr10:96351992 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.32-9C>T single nucleotide variant not provided [RCV002616022] Chr10:94546368 [GRCh38]
Chr10:96306125 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1230-10TC[3] microsatellite not provided [RCV002755249] Chr10:94582952..94582953 [GRCh38]
Chr10:96342709..96342710 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.2346-5T>C single nucleotide variant not provided [RCV003055519] Chr10:94597030 [GRCh38]
Chr10:96356787 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.536C>T (p.Ser179Leu) single nucleotide variant not provided [RCV002658535] Chr10:94574018 [GRCh38]
Chr10:96333775 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1380T>C (p.Val460=) single nucleotide variant not provided [RCV002889491] Chr10:94588282 [GRCh38]
Chr10:96348039 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1488+4T>C single nucleotide variant not provided [RCV002795438] Chr10:94588394 [GRCh38]
Chr10:96348151 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.32-8C>G single nucleotide variant not provided [RCV002735460] Chr10:94546369 [GRCh38]
Chr10:96306126 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.2345+15T>C single nucleotide variant not provided [RCV002590737] Chr10:94596971 [GRCh38]
Chr10:96356728 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1851+19A>G single nucleotide variant not provided [RCV002736192] Chr10:94592331 [GRCh38]
Chr10:96352088 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1646A>C (p.Asn549Thr) single nucleotide variant not provided [RCV002998932] Chr10:94590655 [GRCh38]
Chr10:96350412 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1083T>C (p.Asn361=) single nucleotide variant not provided [RCV002846903] Chr10:94581376 [GRCh38]
Chr10:96341133 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.494C>A (p.Ser165Tyr) single nucleotide variant not provided [RCV002570931] Chr10:94573976 [GRCh38]
Chr10:96333733 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.2252A>G (p.His751Arg) single nucleotide variant not provided [RCV003054356] Chr10:94596863 [GRCh38]
Chr10:96356620 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1094G>A (p.Arg365His) single nucleotide variant Inborn genetic diseases [RCV002661370] Chr10:94581387 [GRCh38]
Chr10:96341144 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.554A>G (p.Asp185Gly) single nucleotide variant not provided [RCV002622618] Chr10:94574036 [GRCh38]
Chr10:96333793 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1230-10dup duplication not provided [RCV002926907] Chr10:94582948..94582949 [GRCh38]
Chr10:96342705..96342706 [GRCh37]
Chr10:10q23.33		 benign
NM_018063.5(HELLS):c.1972-17A>G single nucleotide variant not provided [RCV002622124] Chr10:94593482 [GRCh38]
Chr10:96353239 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.116C>T (p.Ala39Val) single nucleotide variant not provided [RCV003020324] Chr10:94546461 [GRCh38]
Chr10:96306218 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1489-12G>A single nucleotide variant not provided [RCV002569987] Chr10:94590401 [GRCh38]
Chr10:96350158 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.161T>C (p.Met54Thr) single nucleotide variant Inborn genetic diseases [RCV003377832]|not provided [RCV003018407] Chr10:94554133 [GRCh38]
Chr10:96313890 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.31+10G>A single nucleotide variant not provided [RCV002662374] Chr10:94545962 [GRCh38]
Chr10:96305719 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.491C>T (p.Ser164Phe) single nucleotide variant not provided [RCV002830047] Chr10:94573973 [GRCh38]
Chr10:96333730 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1194C>T (p.Asn398=) single nucleotide variant HELLS-related condition [RCV003973419]|not provided [RCV002575365] Chr10:94581487 [GRCh38]
Chr10:96341244 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.2005A>G (p.Ile669Val) single nucleotide variant not provided [RCV003084743] Chr10:94593532 [GRCh38]
Chr10:96353289 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.2249-3del deletion not provided [RCV002701535] Chr10:94596850 [GRCh38]
Chr10:96356607 [GRCh37]
Chr10:10q23.33		 benign
NM_018063.5(HELLS):c.1476T>C (p.Phe492=) single nucleotide variant not provided [RCV002572766] Chr10:94588378 [GRCh38]
Chr10:96348135 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.888+11C>T single nucleotide variant not provided [RCV002645689] Chr10:94574747 [GRCh38]
Chr10:96334504 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1948T>C (p.Ser650Pro) single nucleotide variant not provided [RCV002626558] Chr10:94592491 [GRCh38]
Chr10:96352248 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.122G>C (p.Gly41Ala) single nucleotide variant not provided [RCV002643038] Chr10:94546467 [GRCh38]
Chr10:96306224 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.134A>C (p.Glu45Ala) single nucleotide variant Inborn genetic diseases [RCV002956068] Chr10:94546479 [GRCh38]
Chr10:96306236 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.958A>G (p.Lys320Glu) single nucleotide variant not provided [RCV002573655] Chr10:94576731 [GRCh38]
Chr10:96336488 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.2340T>C (p.Tyr780=) single nucleotide variant not provided [RCV003042201] Chr10:94596951 [GRCh38]
Chr10:96356708 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.2034C>T (p.Gly678=) single nucleotide variant not provided [RCV003042837] Chr10:94593561 [GRCh38]
Chr10:96353318 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.664G>C (p.Val222Leu) single nucleotide variant not provided [RCV002701530] Chr10:94574146 [GRCh38]
Chr10:96333903 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1936G>A (p.Asp646Asn) single nucleotide variant not provided [RCV002711333] Chr10:94592479 [GRCh38]
Chr10:96352236 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.705+13A>C single nucleotide variant not provided [RCV002876071] Chr10:94574200 [GRCh38]
Chr10:96333957 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.436-18G>A single nucleotide variant not provided [RCV002745380] Chr10:94571370 [GRCh38]
Chr10:96331127 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1565A>G (p.Asp522Gly) single nucleotide variant not provided [RCV003057096] Chr10:94590489 [GRCh38]
Chr10:96350246 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1023T>C (p.Asn341=) single nucleotide variant not provided [RCV003059040] Chr10:94576796 [GRCh38]
Chr10:96336553 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.955C>T (p.Arg319Trp) single nucleotide variant Inborn genetic diseases [RCV002955952] Chr10:94576728 [GRCh38]
Chr10:96336485 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1857G>A (p.Leu619=) single nucleotide variant not provided [RCV002851175] Chr10:94592400 [GRCh38]
Chr10:96352157 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.497C>T (p.Thr166Ile) single nucleotide variant Inborn genetic diseases [RCV002742993] Chr10:94573979 [GRCh38]
Chr10:96333736 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.2161C>T (p.Arg721Cys) single nucleotide variant not provided [RCV002575071] Chr10:94594767 [GRCh38]
Chr10:96354524 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1622G>A (p.Arg541Gln) single nucleotide variant not provided [RCV003065536] Chr10:94590546 [GRCh38]
Chr10:96350303 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.889-10A>C single nucleotide variant not provided [RCV003046220] Chr10:94576652 [GRCh38]
Chr10:96336409 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1519C>T (p.Arg507Ter) single nucleotide variant not provided [RCV002600927] Chr10:94590443 [GRCh38]
Chr10:96350200 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_018063.5(HELLS):c.197G>A (p.Arg66His) single nucleotide variant not provided [RCV002598550] Chr10:94554169 [GRCh38]
Chr10:96313926 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.586A>G (p.Lys196Glu) single nucleotide variant not provided [RCV003047393] Chr10:94574068 [GRCh38]
Chr10:96333825 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1888A>C (p.Ile630Leu) single nucleotide variant not provided [RCV002602124] Chr10:94592431 [GRCh38]
Chr10:96352188 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1423A>G (p.Lys475Glu) single nucleotide variant Inborn genetic diseases [RCV002898479] Chr10:94588325 [GRCh38]
Chr10:96348082 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.2286T>C (p.Ser762=) single nucleotide variant not provided [RCV002580492] Chr10:94596897 [GRCh38]
Chr10:96356654 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV002676399] Chr10:94545922 [GRCh38]
Chr10:96305679 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1230-19A>C single nucleotide variant not provided [RCV002645937] Chr10:94582944 [GRCh38]
Chr10:96342701 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1602A>T (p.Gln534His) single nucleotide variant not provided [RCV003009646] Chr10:94590526 [GRCh38]
Chr10:96350283 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1826C>T (p.Pro609Leu) single nucleotide variant not provided [RCV002856388] Chr10:94592287 [GRCh38]
Chr10:96352044 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.678C>T (p.Tyr226=) single nucleotide variant not provided [RCV002856849] Chr10:94574160 [GRCh38]
Chr10:96333917 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1852-19A>G single nucleotide variant not provided [RCV002856895] Chr10:94592376 [GRCh38]
Chr10:96352133 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.334-5T>C single nucleotide variant not provided [RCV002810520] Chr10:94562686 [GRCh38]
Chr10:96322443 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1225A>G (p.Lys409Glu) single nucleotide variant not provided [RCV002791835] Chr10:94581518 [GRCh38]
Chr10:96341275 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1767+18_1767+23del deletion not provided [RCV003045169] Chr10:94590789..94590794 [GRCh38]
Chr10:96350546..96350551 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.49A>G (p.Met17Val) single nucleotide variant Inborn genetic diseases [RCV002809169] Chr10:94546394 [GRCh38]
Chr10:96306151 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1529G>A (p.Arg510Gln) single nucleotide variant not provided [RCV003009402] Chr10:94590453 [GRCh38]
Chr10:96350210 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1708TGT[1] (p.Cys571del) microsatellite not provided [RCV002811934] Chr10:94590717..94590719 [GRCh38]
Chr10:96350474..96350476 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1852-16A>G single nucleotide variant not provided [RCV002720294] Chr10:94592379 [GRCh38]
Chr10:96352136 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.889-17A>G single nucleotide variant not provided [RCV002649314] Chr10:94576645 [GRCh38]
Chr10:96336402 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1489-13C>T single nucleotide variant not provided [RCV002601738] Chr10:94590400 [GRCh38]
Chr10:96350157 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.448G>A (p.Val150Met) single nucleotide variant not provided [RCV002597879] Chr10:94571400 [GRCh38]
Chr10:96331157 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.2248+16G>A single nucleotide variant not provided [RCV002597670] Chr10:94594870 [GRCh38]
Chr10:96354627 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.116C>G (p.Ala39Gly) single nucleotide variant not provided [RCV002581949] Chr10:94546461 [GRCh38]
Chr10:96306218 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.889-8T>A single nucleotide variant not provided [RCV002834276] Chr10:94576654 [GRCh38]
Chr10:96336411 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1637T>C (p.Val546Ala) single nucleotide variant not provided [RCV003026666] Chr10:94590646 [GRCh38]
Chr10:96350403 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.895A>G (p.Thr299Ala) single nucleotide variant not provided [RCV002578928] Chr10:94576668 [GRCh38]
Chr10:96336425 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.582T>C (p.Asn194=) single nucleotide variant not provided [RCV003030554] Chr10:94574064 [GRCh38]
Chr10:96333821 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1972-1G>A single nucleotide variant not provided [RCV002811935] Chr10:94593498 [GRCh38]
Chr10:96353255 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_018063.5(HELLS):c.371-5del deletion not provided [RCV002630927] Chr10:94562799 [GRCh38]
Chr10:96322556 [GRCh37]
Chr10:10q23.33		 benign
NM_018063.5(HELLS):c.277-20A>G single nucleotide variant not provided [RCV002597857] Chr10:94558119 [GRCh38]
Chr10:96317876 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1851+13A>G single nucleotide variant not provided [RCV003027516] Chr10:94592325 [GRCh38]
Chr10:96352082 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.490T>C (p.Ser164Pro) single nucleotide variant not provided [RCV002654314] Chr10:94573972 [GRCh38]
Chr10:96333729 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.2505A>G (p.Glu835=) single nucleotide variant not provided [RCV002654079] Chr10:94601610 [GRCh38]
Chr10:96361367 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1473G>A (p.Met491Ile) single nucleotide variant not provided [RCV003070201] Chr10:94588375 [GRCh38]
Chr10:96348132 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1462A>G (p.Ile488Val) single nucleotide variant not provided [RCV002590066] Chr10:94588364 [GRCh38]
Chr10:96348121 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.150A>G (p.Glu50=) single nucleotide variant not provided [RCV002586349] Chr10:94546495 [GRCh38]
Chr10:96306252 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.570G>A (p.Thr190=) single nucleotide variant not provided [RCV003049739] Chr10:94574052 [GRCh38]
Chr10:96333809 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.488C>T (p.Ser163Phe) single nucleotide variant not provided [RCV002634924] Chr10:94573970 [GRCh38]
Chr10:96333727 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.921G>A (p.Glu307=) single nucleotide variant not provided [RCV002635605] Chr10:94576694 [GRCh38]
Chr10:96336451 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.789A>G (p.Ala263=) single nucleotide variant not provided [RCV002610535] Chr10:94574637 [GRCh38]
Chr10:96334394 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.2100G>A (p.Ser700=) single nucleotide variant not provided [RCV003073194] Chr10:94594706 [GRCh38]
Chr10:96354463 [GRCh37]
Chr10:10q23.33		 likely benign
GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1 copy number loss See cases [RCV003159569] Chr10:93281410..97596360 [GRCh37]
Chr10:10q23.32-24.1		 pathogenic
NM_018063.5(HELLS):c.785T>C (p.Ile262Thr) single nucleotide variant Inborn genetic diseases [RCV003207764] Chr10:94574633 [GRCh38]
Chr10:96334390 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
NM_018063.5(HELLS):c.251C>G (p.Thr84Arg) single nucleotide variant Inborn genetic diseases [RCV003371907] Chr10:94554223 [GRCh38]
Chr10:96313980 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.32-12C>T single nucleotide variant not provided [RCV003543249] Chr10:94546365 [GRCh38]
Chr10:96306122 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.2248+16G>T single nucleotide variant not provided [RCV003570272] Chr10:94594870 [GRCh38]
Chr10:96354627 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1629-19G>T single nucleotide variant not provided [RCV003571688] Chr10:94590619 [GRCh38]
Chr10:96350376 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.204T>G (p.Leu68=) single nucleotide variant not provided [RCV003712605] Chr10:94554176 [GRCh38]
Chr10:96313933 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1647T>C (p.Asn549=) single nucleotide variant not provided [RCV003568932] Chr10:94590656 [GRCh38]
Chr10:96350413 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.453T>A (p.Ala151=) single nucleotide variant not specified [RCV003479651] Chr10:94571405 [GRCh38]
Chr10:96331162 [GRCh37]
Chr10:10q23.33		 likely benign
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
GRCh37/hg19 10q23.33-24.1(chr10:96298410-97426086)x3 copy number gain not provided [RCV003484810] Chr10:96298410..97426086 [GRCh37]
Chr10:10q23.33-24.1		 uncertain significance
GRCh37/hg19 10q23.32-23.33(chr10:93788061-96452666)x3 copy number gain not provided [RCV003484809] Chr10:93788061..96452666 [GRCh37]
Chr10:10q23.32-23.33		 uncertain significance
NM_018063.5(HELLS):c.112G>C (p.Glu38Gln) single nucleotide variant not provided [RCV003696259] Chr10:94546457 [GRCh38]
Chr10:96306214 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.371-17A>G single nucleotide variant not provided [RCV003544663] Chr10:94562795 [GRCh38]
Chr10:96322552 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.276+18A>G single nucleotide variant not provided [RCV003574220] Chr10:94554266 [GRCh38]
Chr10:96314023 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.2142A>G (p.Thr714=) single nucleotide variant not provided [RCV003830630] Chr10:94594748 [GRCh38]
Chr10:96354505 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.774C>T (p.Cys258=) single nucleotide variant not provided [RCV003576746] Chr10:94574622 [GRCh38]
Chr10:96334379 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1816C>T (p.Arg606Ter) single nucleotide variant not provided [RCV003689350] Chr10:94592277 [GRCh38]
Chr10:96352034 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_018063.5(HELLS):c.1681C>T (p.Gln561Ter) single nucleotide variant not provided [RCV003692079] Chr10:94590690 [GRCh38]
Chr10:96350447 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_018063.5(HELLS):c.1499T>G (p.Ile500Ser) single nucleotide variant not provided [RCV003578474] Chr10:94590423 [GRCh38]
Chr10:96350180 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1489-16dup duplication not provided [RCV003713110] Chr10:94590395..94590396 [GRCh38]
Chr10:96350152..96350153 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.22G>A (p.Gly8Ser) single nucleotide variant not provided [RCV003572541] Chr10:94545943 [GRCh38]
Chr10:96305700 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.301G>T (p.Glu101Ter) single nucleotide variant not provided [RCV003694608] Chr10:94558163 [GRCh38]
Chr10:96317920 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_018063.5(HELLS):c.2088+16A>G single nucleotide variant not provided [RCV003686653] Chr10:94593631 [GRCh38]
Chr10:96353388 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.2085T>C (p.Asp695=) single nucleotide variant not provided [RCV003687544] Chr10:94593612 [GRCh38]
Chr10:96353369 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.2496C>T (p.Ser832=) single nucleotide variant not provided [RCV003666041] Chr10:94601601 [GRCh38]
Chr10:96361358 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1628+18A>G single nucleotide variant not provided [RCV003692008] Chr10:94590570 [GRCh38]
Chr10:96350327 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1971+13dup duplication not provided [RCV003699468] Chr10:94592526..94592527 [GRCh38]
Chr10:96352283..96352284 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1833A>G (p.Leu611=) single nucleotide variant not provided [RCV003835107] Chr10:94592294 [GRCh38]
Chr10:96352051 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.371-13T>A single nucleotide variant not provided [RCV003702915] Chr10:94562799 [GRCh38]
Chr10:96322556 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.298T>C (p.Leu100=) single nucleotide variant not provided [RCV003670245] Chr10:94558160 [GRCh38]
Chr10:96317917 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.2423-7C>G single nucleotide variant not provided [RCV003840430] Chr10:94601521 [GRCh38]
Chr10:96361278 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.477+16T>C single nucleotide variant not provided [RCV003814200] Chr10:94571445 [GRCh38]
Chr10:96331202 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.889-14A>G single nucleotide variant not provided [RCV003702049] Chr10:94576648 [GRCh38]
Chr10:96336405 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.478-16C>T single nucleotide variant not provided [RCV003840151] Chr10:94573944 [GRCh38]
Chr10:96333701 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1902C>T (p.Tyr634=) single nucleotide variant not provided [RCV003849732] Chr10:94592445 [GRCh38]
Chr10:96352202 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1838A>T (p.Lys613Ile) single nucleotide variant not provided [RCV003855536] Chr10:94592299 [GRCh38]
Chr10:96352056 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.1551T>C (p.Asn517=) single nucleotide variant not provided [RCV003813994] Chr10:94590475 [GRCh38]
Chr10:96350232 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.96A>G (p.Glu32=) single nucleotide variant not provided [RCV003726488] Chr10:94546441 [GRCh38]
Chr10:96306198 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.825T>A (p.Leu275=) single nucleotide variant not provided [RCV003838566] Chr10:94574673 [GRCh38]
Chr10:96334430 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.2345+16T>G single nucleotide variant not provided [RCV003665037] Chr10:94596972 [GRCh38]
Chr10:96356729 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1033-17dup duplication not provided [RCV003669016] Chr10:94581307..94581308 [GRCh38]
Chr10:96341064..96341065 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1851+11T>G single nucleotide variant not provided [RCV003702834] Chr10:94592323 [GRCh38]
Chr10:96352080 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.371-14dup duplication not provided [RCV003666095] Chr10:94562794..94562795 [GRCh38]
Chr10:96322551..96322552 [GRCh37]
Chr10:10q23.33		 benign
NM_018063.5(HELLS):c.333+16G>A single nucleotide variant not provided [RCV003667620] Chr10:94558211 [GRCh38]
Chr10:96317968 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.2346-4A>G single nucleotide variant not provided [RCV003833462] Chr10:94597031 [GRCh38]
Chr10:96356788 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1528C>T (p.Arg510Ter) single nucleotide variant not provided [RCV003667946] Chr10:94590452 [GRCh38]
Chr10:96350209 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_018063.5(HELLS):c.180G>T (p.Ser60=) single nucleotide variant not provided [RCV003837958] Chr10:94554152 [GRCh38]
Chr10:96313909 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1179T>A (p.Leu393=) single nucleotide variant not provided [RCV003832698] Chr10:94581472 [GRCh38]
Chr10:96341229 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1033-13A>C single nucleotide variant not provided [RCV003836091] Chr10:94581313 [GRCh38]
Chr10:96341070 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1531C>A (p.Arg511=) single nucleotide variant not provided [RCV003832625] Chr10:94590455 [GRCh38]
Chr10:96350212 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1254T>C (p.Thr418=) single nucleotide variant not provided [RCV003861587] Chr10:94582987 [GRCh38]
Chr10:96342744 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1971+3A>G single nucleotide variant not provided [RCV003712038] Chr10:94592517 [GRCh38]
Chr10:96352274 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018063.5(HELLS):c.333+15C>T single nucleotide variant not provided [RCV003858554] Chr10:94558210 [GRCh38]
Chr10:96317967 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1230-19A>G single nucleotide variant not provided [RCV003709067] Chr10:94582944 [GRCh38]
Chr10:96342701 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.754T>C (p.Leu252=) single nucleotide variant not provided [RCV003840944] Chr10:94574602 [GRCh38]
Chr10:96334359 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1395A>G (p.Glu465=) single nucleotide variant not provided [RCV003843734] Chr10:94588297 [GRCh38]
Chr10:96348054 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.371-12T>C single nucleotide variant not provided [RCV003823252] Chr10:94562800 [GRCh38]
Chr10:96322557 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.2055A>G (p.Ala685=) single nucleotide variant not provided [RCV003860933] Chr10:94593582 [GRCh38]
Chr10:96353339 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1768-6_1768-4del deletion not provided [RCV003719610] Chr10:94592223..94592225 [GRCh38]
Chr10:96351980..96351982 [GRCh37]
Chr10:10q23.33		 likely benign
GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1 copy number loss not specified [RCV003986912] Chr10:94283369..101820913 [GRCh37]
Chr10:10q23.33-24.2		 pathogenic
GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1 copy number loss not specified [RCV003986861] Chr10:90796994..100067505 [GRCh37]
Chr10:10q23.31-24.2		 pathogenic
NM_018063.5(HELLS):c.1143G>A (p.Leu381=) single nucleotide variant not provided [RCV003870946] Chr10:94581436 [GRCh38]
Chr10:96341193 [GRCh37]
Chr10:10q23.33		 likely benign
GRCh37/hg19 10q23.33-24.1(chr10:96180463-97226361)x3 copy number gain not specified [RCV003986879] Chr10:96180463..97226361 [GRCh37]
Chr10:10q23.33-24.1		 uncertain significance
NM_018063.5(HELLS):c.1509T>C (p.Ser503=) single nucleotide variant not provided [RCV003729804] Chr10:94590433 [GRCh38]
Chr10:96350190 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1662T>C (p.Ser554=) single nucleotide variant not provided [RCV003681249] Chr10:94590671 [GRCh38]
Chr10:96350428 [GRCh37]
Chr10:10q23.33		 likely benign
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 copy number gain not specified [RCV003986893] Chr10:95078198..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
NM_018063.5(HELLS):c.1746C>T (p.Asp582=) single nucleotide variant not provided [RCV003866375] Chr10:94590755 [GRCh38]
Chr10:96350512 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.438A>G (p.Glu146=) single nucleotide variant not provided [RCV003721952] Chr10:94571390 [GRCh38]
Chr10:96331147 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.306A>G (p.Arg102=) single nucleotide variant not provided [RCV003677843] Chr10:94558168 [GRCh38]
Chr10:96317925 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1035T>C (p.His345=) single nucleotide variant not provided [RCV003821847] Chr10:94581328 [GRCh38]
Chr10:96341085 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1489-7C>T single nucleotide variant not provided [RCV003819601] Chr10:94590406 [GRCh38]
Chr10:96350163 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.828C>T (p.Val276=) single nucleotide variant not provided [RCV003846253] Chr10:94574676 [GRCh38]
Chr10:96334433 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1326+17T>G single nucleotide variant not provided [RCV003674839] Chr10:94583076 [GRCh38]
Chr10:96342833 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1653T>G (p.Pro551=) single nucleotide variant not provided [RCV003676077] Chr10:94590662 [GRCh38]
Chr10:96350419 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.277-11T>C single nucleotide variant not provided [RCV003566948] Chr10:94558128 [GRCh38]
Chr10:96317885 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018063.5(HELLS):c.1186T>C (p.Leu396=) single nucleotide variant not provided [RCV003678699] Chr10:94581479 [GRCh38]
Chr10:96341236 [GRCh37]
Chr10:10q23.33		 likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR7-2hsa-miR-7-5pMirtarbaseexternal_infoWestern blotFunctional MTI18823940
MIR7-2hsa-miR-7-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI18823940
MIR7-1hsa-miR-7-5pMirtarbaseexternal_infoWestern blotFunctional MTI18823940
MIR7-1hsa-miR-7-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI18823940

Predicted Target Of
Summary Value
Count of predictions:3480
Count of miRNA genes:1110
Interacting mature miRNAs:1377
Transcripts:ENST00000239026, ENST00000348459, ENST00000371327, ENST00000371332, ENST00000394036, ENST00000394044, ENST00000394045, ENST00000419900, ENST00000462057, ENST00000464030, ENST00000466552, ENST00000475263
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.

Markers in Region
RH93667  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371096,361,607 - 96,361,728UniSTSGRCh37
Build 361096,351,597 - 96,351,718RGDNCBI36
Celera1090,101,689 - 90,101,810RGD
Cytogenetic Map10q24.2UniSTS
HuRef1089,988,047 - 89,988,168UniSTS
GeneMap99-GB4 RH Map10445.19UniSTS
STS-N95450  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371096,361,537 - 96,361,732UniSTSGRCh37
Build 361096,351,527 - 96,351,722RGDNCBI36
Celera1090,101,619 - 90,101,814RGD
Cytogenetic Map10q24.2UniSTS
HuRef1089,987,977 - 89,988,172UniSTS
GeneMap99-GB4 RH Map10448.63UniSTS
NCBI RH Map101036.4UniSTS
HELLS_3381  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371096,361,320 - 96,361,899UniSTSGRCh37
Build 361096,351,310 - 96,351,889RGDNCBI36
Celera1090,101,402 - 90,101,981RGD
HuRef1089,987,760 - 89,988,339UniSTS
GDB:631813  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11p12UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map5q11.2-q13.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map3p21.33UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map19p13.3UniSTS


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 135 9 33 25 639 27 233 47 111 57 359 218 6 2
Low 1614 1262 1401 370 756 219 2884 554 2326 301 1097 1357 160 1 962 1663 4 1
Below cutoff 690 1714 292 228 552 219 1238 1592 1296 61 4 38 8 242 1124

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007061960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB074174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB113248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB113249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF155827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY007108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC423372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000239026   ⟹   ENSP00000239026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1094,501,434 - 94,602,098 (+)Ensembl
RefSeq Acc Id: ENST00000348459   ⟹   ENSP00000239027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1094,545,788 - 94,602,099 (+)Ensembl
RefSeq Acc Id: ENST00000371327   ⟹   ENSP00000360378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1094,588,229 - 94,613,905 (+)Ensembl
RefSeq Acc Id: ENST00000371332   ⟹   ENSP00000360383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1094,545,922 - 94,601,622 (+)Ensembl
RefSeq Acc Id: ENST00000394036   ⟹   ENSP00000377601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1094,545,922 - 94,601,622 (+)Ensembl
RefSeq Acc Id: ENST00000394045   ⟹   ENSP00000377609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1094,545,922 - 94,601,622 (+)Ensembl
RefSeq Acc Id: ENST00000419900   ⟹   ENSP00000409945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1094,545,329 - 94,604,115 (+)Ensembl
RefSeq Acc Id: ENST00000462057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1094,554,124 - 94,571,280 (+)Ensembl
RefSeq Acc Id: ENST00000464030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1094,590,234 - 94,592,514 (+)Ensembl
RefSeq Acc Id: ENST00000466552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1094,569,195 - 94,574,448 (+)Ensembl
RefSeq Acc Id: ENST00000475263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1094,545,922 - 94,602,004 (+)Ensembl
RefSeq Acc Id: ENST00000630929   ⟹   ENSP00000485823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1094,545,922 - 94,601,622 (+)Ensembl
RefSeq Acc Id: ENST00000698650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1094,546,377 - 94,574,793 (+)Ensembl
RefSeq Acc Id: ENST00000698651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1094,545,788 - 94,583,519 (+)Ensembl
RefSeq Acc Id: ENST00000698672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1094,545,768 - 94,546,820 (+)Ensembl
RefSeq Acc Id: ENST00000698673   ⟹   ENSP00000513870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1094,545,829 - 94,562,876 (+)Ensembl
RefSeq Acc Id: ENST00000698674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1094,569,195 - 94,583,786 (+)Ensembl
RefSeq Acc Id: ENST00000698675   ⟹   ENSP00000513940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1094,545,922 - 94,601,622 (+)Ensembl
RefSeq Acc Id: ENST00000698676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1094,590,638 - 94,593,870 (+)Ensembl
RefSeq Acc Id: ENST00000698799   ⟹   ENSP00000513942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1094,545,922 - 94,601,622 (+)Ensembl
RefSeq Acc Id: ENST00000698800   ⟹   ENSP00000513943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1094,545,922 - 94,604,115 (+)Ensembl
RefSeq Acc Id: ENST00000698830   ⟹   ENSP00000513967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1094,545,922 - 94,597,111 (+)Ensembl
RefSeq Acc Id: NM_001289067   ⟹   NP_001275996
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381094,545,788 - 94,602,099 (+)NCBI
HuRef1089,932,031 - 89,988,296 (+)NCBI
CHM1_11096,587,324 - 96,643,612 (+)NCBI
T2T-CHM13v2.01095,424,900 - 95,481,206 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289068   ⟹   NP_001275997
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381094,545,788 - 94,602,099 (+)NCBI
HuRef1089,932,031 - 89,988,296 (+)NCBI
CHM1_11096,587,324 - 96,643,612 (+)NCBI
T2T-CHM13v2.01095,424,900 - 95,481,206 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289069   ⟹   NP_001275998
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381094,545,788 - 94,602,099 (+)NCBI
HuRef1089,932,031 - 89,988,296 (+)NCBI
CHM1_11096,587,324 - 96,643,612 (+)NCBI
T2T-CHM13v2.01095,424,900 - 95,481,206 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289070   ⟹   NP_001275999
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381094,545,788 - 94,602,099 (+)NCBI
HuRef1089,932,031 - 89,988,296 (+)NCBI
CHM1_11096,587,324 - 96,643,612 (+)NCBI
T2T-CHM13v2.01095,424,900 - 95,481,206 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289071   ⟹   NP_001276000
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381094,545,788 - 94,602,099 (+)NCBI
HuRef1089,932,031 - 89,988,296 (+)NCBI
CHM1_11096,587,324 - 96,643,612 (+)NCBI
T2T-CHM13v2.01095,424,900 - 95,481,206 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289072   ⟹   NP_001276001
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381094,545,788 - 94,602,099 (+)NCBI
HuRef1089,932,031 - 89,988,296 (+)NCBI
CHM1_11096,587,324 - 96,643,612 (+)NCBI
T2T-CHM13v2.01095,424,900 - 95,481,206 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289073   ⟹   NP_001276002
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381094,545,788 - 94,602,099 (+)NCBI
HuRef1089,932,031 - 89,988,296 (+)NCBI
CHM1_11096,587,324 - 96,643,612 (+)NCBI
T2T-CHM13v2.01095,424,900 - 95,481,206 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289074   ⟹   NP_001276003
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381094,545,788 - 94,602,099 (+)NCBI
HuRef1089,932,031 - 89,988,296 (+)NCBI
CHM1_11096,587,324 - 96,643,612 (+)NCBI
T2T-CHM13v2.01095,424,900 - 95,481,206 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289075   ⟹   NP_001276004
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381094,545,788 - 94,602,099 (+)NCBI
HuRef1089,932,031 - 89,988,296 (+)NCBI
CHM1_11096,587,324 - 96,643,612 (+)NCBI
T2T-CHM13v2.01095,424,900 - 95,481,206 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018063   ⟹   NP_060533
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381094,545,788 - 94,602,099 (+)NCBI
GRCh371096,305,535 - 96,362,628 (+)NCBI
Build 361096,295,564 - 96,351,846 (+)NCBI Archive
Celera1090,045,660 - 90,101,938 (+)RGD
HuRef1089,932,031 - 89,988,296 (+)NCBI
CHM1_11096,587,324 - 96,643,612 (+)NCBI
T2T-CHM13v2.01095,424,900 - 95,481,206 (+)NCBI
Sequence:
RefSeq Acc Id: XR_007061960
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381094,568,226 - 94,613,905 (+)NCBI
RefSeq Acc Id: XR_008488200
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01095,444,758 - 95,493,015 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001275996 (Get FASTA)   NCBI Sequence Viewer  
  NP_001275997 (Get FASTA)   NCBI Sequence Viewer  
  NP_001275998 (Get FASTA)   NCBI Sequence Viewer  
  NP_001275999 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276000 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276001 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276002 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276003 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276004 (Get FASTA)   NCBI Sequence Viewer  
  NP_060533 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF82262 (Get FASTA)   NCBI Sequence Viewer  
  AAG01987 (Get FASTA)   NCBI Sequence Viewer  
  AAH15477 (Get FASTA)   NCBI Sequence Viewer  
  AAH29381 (Get FASTA)   NCBI Sequence Viewer  
  AAH30963 (Get FASTA)   NCBI Sequence Viewer  
  AAH31004 (Get FASTA)   NCBI Sequence Viewer  
  AAI05607 (Get FASTA)   NCBI Sequence Viewer  
  BAA91550 (Get FASTA)   NCBI Sequence Viewer  
  BAD10844 (Get FASTA)   NCBI Sequence Viewer  
  BAD10845 (Get FASTA)   NCBI Sequence Viewer  
  BAD10846 (Get FASTA)   NCBI Sequence Viewer  
  BAD10847 (Get FASTA)   NCBI Sequence Viewer  
  BAD10848 (Get FASTA)   NCBI Sequence Viewer  
  BAD10849 (Get FASTA)   NCBI Sequence Viewer  
  BAD10850 (Get FASTA)   NCBI Sequence Viewer  
  BAD10851 (Get FASTA)   NCBI Sequence Viewer  
  BAD24804 (Get FASTA)   NCBI Sequence Viewer  
  BAD24805 (Get FASTA)   NCBI Sequence Viewer  
  BAE45737 (Get FASTA)   NCBI Sequence Viewer  
  BAG37088 (Get FASTA)   NCBI Sequence Viewer  
  CAD97978 (Get FASTA)   NCBI Sequence Viewer  
  EAW50026 (Get FASTA)   NCBI Sequence Viewer  
  EAW50027 (Get FASTA)   NCBI Sequence Viewer  
  EAW50028 (Get FASTA)   NCBI Sequence Viewer  
  EAW50029 (Get FASTA)   NCBI Sequence Viewer  
  EAW50030 (Get FASTA)   NCBI Sequence Viewer  
  EAW50031 (Get FASTA)   NCBI Sequence Viewer  
  EAW50032 (Get FASTA)   NCBI Sequence Viewer  
  EAW50033 (Get FASTA)   NCBI Sequence Viewer  
  EAW50034 (Get FASTA)   NCBI Sequence Viewer  
  EAW50035 (Get FASTA)   NCBI Sequence Viewer  
  EAW50036 (Get FASTA)   NCBI Sequence Viewer  
  EAW50037 (Get FASTA)   NCBI Sequence Viewer  
  EAW50038 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000239027
  ENSP00000239027.7
  ENSP00000360378
  ENSP00000360378.2
  ENSP00000360383.5
  ENSP00000360383.6
  ENSP00000377601
  ENSP00000377601.2
  ENSP00000377609
  ENSP00000377609.1
  ENSP00000409945
  ENSP00000409945.1
  ENSP00000409945.2
  ENSP00000485823.1
  ENSP00000513870.1
  ENSP00000513940
  ENSP00000513940.1
  ENSP00000513942
  ENSP00000513942.1
  ENSP00000513943.1
  ENSP00000513967.1
GenBank Protein Q9NRZ9 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_060533   ⟸   NM_018063
- Peptide Label: isoform 1
- UniProtKB: Q8N6P4 (UniProtKB/Swiss-Prot),   Q7Z5X2 (UniProtKB/Swiss-Prot),   Q7Z397 (UniProtKB/Swiss-Prot),   Q76H81 (UniProtKB/Swiss-Prot),   Q76H80 (UniProtKB/Swiss-Prot),   Q76H79 (UniProtKB/Swiss-Prot),   Q76H78 (UniProtKB/Swiss-Prot),   Q76H77 (UniProtKB/Swiss-Prot),   Q76H76 (UniProtKB/Swiss-Prot),   Q6I7N7 (UniProtKB/Swiss-Prot),   Q3LID1 (UniProtKB/Swiss-Prot),   B2RB41 (UniProtKB/Swiss-Prot),   Q9H4P5 (UniProtKB/Swiss-Prot),   Q9NRZ9 (UniProtKB/Swiss-Prot),   Q6I7N8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276000   ⟸   NM_001289071
- Peptide Label: isoform 6
- UniProtKB: Q6I7N8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001275996   ⟸   NM_001289067
- Peptide Label: isoform 2
- UniProtKB: A0A0B4J1V9 (UniProtKB/TrEMBL),   Q6I7N8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276004   ⟸   NM_001289075
- Peptide Label: isoform 10
- UniProtKB: F6RPV8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001275999   ⟸   NM_001289070
- Peptide Label: isoform 5
- UniProtKB: Q6I7N8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276003   ⟸   NM_001289074
- Peptide Label: isoform 9
- UniProtKB: F6RPV8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001275998   ⟸   NM_001289069
- Peptide Label: isoform 4
- UniProtKB: Q6I7N8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276001   ⟸   NM_001289072
- Peptide Label: isoform 7
- UniProtKB: Q6I7N8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276002   ⟸   NM_001289073
- Peptide Label: isoform 8
- UniProtKB: A0A087WSW7 (UniProtKB/TrEMBL),   Q6I7N8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001275997   ⟸   NM_001289068
- Peptide Label: isoform 3
- UniProtKB: Q6I7N8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000360383   ⟸   ENST00000371332
RefSeq Acc Id: ENSP00000360378   ⟸   ENST00000371327
RefSeq Acc Id: ENSP00000239027   ⟸   ENST00000348459
RefSeq Acc Id: ENSP00000409945   ⟸   ENST00000419900
RefSeq Acc Id: ENSP00000377609   ⟸   ENST00000394045
RefSeq Acc Id: ENSP00000377601   ⟸   ENST00000394036
RefSeq Acc Id: ENSP00000485823   ⟸   ENST00000630929
RefSeq Acc Id: ENSP00000239026   ⟸   ENST00000239026
RefSeq Acc Id: ENSP00000513967   ⟸   ENST00000698830
RefSeq Acc Id: ENSP00000513940   ⟸   ENST00000698675
RefSeq Acc Id: ENSP00000513942   ⟸   ENST00000698799
RefSeq Acc Id: ENSP00000513870   ⟸   ENST00000698673
RefSeq Acc Id: ENSP00000513943   ⟸   ENST00000698800
Protein Domains
Helicase ATP-binding   Helicase C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NRZ9-F1-model_v2 AlphaFold Q9NRZ9 1-838 view protein structure

Promoters
RGD ID:7218223
Promoter ID:EPDNEW_H14857
Type:initiation region
Name:HELLS_1
Description:helicase, lymphoid-specific
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381094,545,820 - 94,545,880EPDNEW
RGD ID:6787774
Promoter ID:HG_KWN:10631
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000239026,   ENST00000394044,   NM_018063,   OTTHUMT00000049477,   UC001KJS.1,   UC001KJU.1,   UC009XUL.1,   UC009XUM.1,   UC009XUN.1,   UC009XUO.1,   UC009XUP.1,   UC009XUQ.1,   UC009XUR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361096,295,269 - 96,295,769 (+)MPROMDB
RGD ID:6787746
Promoter ID:HG_KWN:10633
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:OTTHUMT00000049479
Position:
Human AssemblyChrPosition (strand)Source
Build 361096,320,916 - 96,321,416 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4861 AgrOrtholog
COSMIC HELLS COSMIC
Ensembl Genes ENSG00000119969 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000348459 ENTREZGENE
  ENST00000348459.10 UniProtKB/Swiss-Prot
  ENST00000371327 ENTREZGENE
  ENST00000371327.3 UniProtKB/TrEMBL
  ENST00000371332.8 UniProtKB/TrEMBL
  ENST00000371332.9 UniProtKB/Swiss-Prot
  ENST00000394036 ENTREZGENE
  ENST00000394036.6 UniProtKB/TrEMBL
  ENST00000394045 ENTREZGENE
  ENST00000394045.6 UniProtKB/Swiss-Prot
  ENST00000419900 ENTREZGENE
  ENST00000419900.5 UniProtKB/TrEMBL
  ENST00000419900.6 UniProtKB/Swiss-Prot
  ENST00000630929.3 UniProtKB/TrEMBL
  ENST00000698673.1 UniProtKB/TrEMBL
  ENST00000698675 ENTREZGENE
  ENST00000698675.1 UniProtKB/Swiss-Prot
  ENST00000698799 ENTREZGENE
  ENST00000698799.1 UniProtKB/Swiss-Prot
  ENST00000698800.1 UniProtKB/Swiss-Prot
  ENST00000698830.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.10810 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000119969 GTEx
HGNC ID HGNC:4861 ENTREZGENE
Human Proteome Map HELLS Human Proteome Map
InterPro Helicase_ATP-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELLS_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNF2-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNF2/RAD54-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNF2_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3070 UniProtKB/Swiss-Prot
NCBI Gene 3070 ENTREZGENE
OMIM 603946 OMIM
PANTHER LYMPHOID-SPECIFIC HELICASE UniProtKB/Swiss-Prot
  LYMPHOID-SPECIFIC HELICASE UniProtKB/Swiss-Prot
  LYMPHOID-SPECIFIC HELICASE UniProtKB/TrEMBL
  LYMPHOID-SPECIFIC HELICASE UniProtKB/TrEMBL
Pfam Helicase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNF2_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35054 PharmGKB
PRINTS F138DOMAIN UniProtKB/TrEMBL
PROSITE HELICASE_ATP_BIND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICASE_CTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DEXDc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HELICc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WSW7 ENTREZGENE, UniProtKB/TrEMBL
  A0A0B4J1V9 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TMK7_HUMAN UniProtKB/TrEMBL
  B1ALG6_HUMAN UniProtKB/TrEMBL
  B2RB41 ENTREZGENE
  F6RPV8 ENTREZGENE, UniProtKB/TrEMBL
  HELLS_HUMAN UniProtKB/Swiss-Prot
  Q0VGL2_HUMAN UniProtKB/TrEMBL
  Q3LID1 ENTREZGENE
  Q6I7N7 ENTREZGENE
  Q6I7N8 ENTREZGENE, UniProtKB/TrEMBL
  Q76H76 ENTREZGENE
  Q76H77 ENTREZGENE
  Q76H78 ENTREZGENE
  Q76H79 ENTREZGENE
  Q76H80 ENTREZGENE
  Q76H81 ENTREZGENE
  Q76H82_HUMAN UniProtKB/TrEMBL
  Q7Z397 ENTREZGENE
  Q7Z5X2 ENTREZGENE
  Q8N6P4 ENTREZGENE
  Q9H4P5 ENTREZGENE
  Q9NRZ9 ENTREZGENE
UniProt Secondary B2RB41 UniProtKB/Swiss-Prot
  Q3LID1 UniProtKB/Swiss-Prot
  Q6I7N7 UniProtKB/Swiss-Prot
  Q76H76 UniProtKB/Swiss-Prot
  Q76H77 UniProtKB/Swiss-Prot
  Q76H78 UniProtKB/Swiss-Prot
  Q76H79 UniProtKB/Swiss-Prot
  Q76H80 UniProtKB/Swiss-Prot
  Q76H81 UniProtKB/Swiss-Prot
  Q7Z397 UniProtKB/Swiss-Prot
  Q7Z5X2 UniProtKB/Swiss-Prot
  Q8N6P4 UniProtKB/Swiss-Prot
  Q9H4P5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-05-16 HELLS  helicase, lymphoid specific  HELLS  helicase, lymphoid-specific  Symbol and/or name change 5135510 APPROVED