DKC1 (dyskerin pseudouridine synthase 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: DKC1 (dyskerin pseudouridine synthase 1) Homo sapiens
Analyze
Symbol: DKC1
Name: dyskerin pseudouridine synthase 1
RGD ID: 1349510
HGNC Page HGNC
Description: Exhibits RNA binding activity; pseudouridine synthase activity; and telomerase activity. Involved in several processes, including nucleic acid metabolic process; positive regulation of telomerase RNA localization to Cajal body; and regulation of nucleobase-containing compound metabolic process. Localizes to box H/ACA telomerase RNP complex and nuclear lumen. Implicated in X-linked dyskeratosis congenita; aplastic anemia; and dyskeratosis congenita.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CBF5; CBF5 homolog; cbf5p homolog; DKC; DKCX; dyskeratosis congenita 1, dyskerin; FLJ97620; H/ACA ribonucleoprotein complex subunit 4; H/ACA ribonucleoprotein complex subunit DKC1; NAP57; NOLA4; nopp140-associated protein of 57 kDa; nucleolar protein family A member 4; nucleolar protein NAP57; snoRNP protein DKC1; XAP101
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX154,762,742 - 154,777,689 (+)EnsemblGRCh38hg38GRCh38
GRCh38X154,762,864 - 154,777,689 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,991,139 - 154,005,964 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,644,344 - 153,659,154 (+)NCBINCBI36hg18NCBI36
Build 34X153,554,853 - 153,569,664NCBI
CeleraX154,149,596 - 154,164,527 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,534,593 - 142,549,324 (+)NCBIHuRef
CHM1_1X153,902,709 - 153,917,646 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2-butoxyethanol  (ISO)
2-nitrofluorene  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (EXP)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP,ISO)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bicalutamide  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
C60 fullerene  (ISO)
carbon nanotube  (ISO)
chloropicrin  (EXP)
choline  (ISO)
cisplatin  (ISO)
cobalt dichloride  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
deoxynivalenol  (ISO)
diethylstilbestrol  (ISO)
disodium selenite  (EXP)
Enterolactone  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
eugenol  (EXP)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
hexadecanoic acid  (EXP)
hydrogen peroxide  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
menadione  (EXP)
methapyrilene  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
methylparaben  (EXP)
methylseleninic acid  (EXP)
N-nitrosodimethylamine  (ISO)
nickel sulfate  (EXP)
oxaliplatin  (ISO)
pentachlorophenol  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
resveratrol  (EXP)
silicon dioxide  (EXP)
Soman  (ISO)
succimer  (ISO)
tetrachloromethane  (ISO)
topotecan  (ISO)
Tributyltin oxide  (ISO)
triptonide  (ISO)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
Abnormal blistering of the skin  (IAGP)
Abnormal eyebrow morphology  (IAGP)
Abnormal eyelash morphology  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal hemoglobin  (IAGP)
Abnormal leukocyte morphology  (IAGP)
Abnormal lymphocyte count  (IAGP)
Abnormal morphology of female internal genitalia  (IAGP)
Abnormal neutrophil count  (IAGP)
Abnormal platelet count  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormality of coagulation  (IAGP)
Abnormality of neutrophils  (IAGP)
Abnormality of the nail  (IAGP)
Abnormality of the pharynx  (IAGP)
Acute myeloid leukemia  (IAGP)
Alopecia  (IAGP)
Anal mucosal leukoplakia  (IAGP)
Anemia  (IAGP)
Anorectal anomaly  (IAGP)
Aplasia/Hypoplasia of the skin  (IAGP)
Aplastic/hypoplastic toenail  (IAGP)
Ataxia  (IAGP)
Avascular necrosis  (IAGP)
Blepharitis  (IAGP)
Bone marrow hypocellularity  (IAGP)
Carcinoma  (IAGP)
Carious teeth  (IAGP)
Cataract  (IAGP)
Cellular immunodeficiency  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral calcification  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cirrhosis  (IAGP)
Coarse metaphyseal trabecularization  (IAGP)
Conjunctivitis  (IAGP)
Cryptorchidism  (IAGP)
Decreased head circumference  (IAGP)
Decreased testicular size  (IAGP)
Dermal atrophy  (IAGP)
Diabetes mellitus  (IAGP)
Displacement of the urethral meatus  (IAGP)
Epiphora  (IAGP)
Esophageal stenosis  (IAGP)
Esophageal stricture  (IAGP)
Excessive wrinkled skin  (IAGP)
Failure to thrive  (IAGP)
Generalized hyperpigmentation  (IAGP)
Generalized hypopigmentation of hair  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
Hepatic failure  (IAGP)
Hepatomegaly  (IAGP)
Hodgkin lymphoma  (IAGP)
Horseshoe kidney  (IAGP)
Hyperhidrosis  (IAGP)
Hypermelanotic macule  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hypertonia  (IAGP)
Hypodontia  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hyporeflexia  (IAGP)
Hypospadias  (IAGP)
Immunodeficiency  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Leukopenia  (IAGP)
Lymphoma  (IAGP)
Malabsorption  (IAGP)
Microcephaly  (IAGP)
Myelodysplasia  (IAGP)
Nail dystrophy  (IAGP)
Neoplasm  (IAGP)
Neoplasm of the pancreas  (IAGP)
Optic atrophy  (IAGP)
Oral leukoplakia  (IAGP)
Osteoporosis  (IAGP)
Palmoplantar keratoderma  (IAGP)
Pancytopenia  (IAGP)
Periodontitis  (IAGP)
Phimosis  (IAGP)
Premature graying of hair  (IAGP)
Premature loss of teeth  (IAGP)
Pterygium  (IAGP)
Pterygium of nails  (IAGP)
Pulmonary fibrosis  (IAGP)
Recurrent fractures  (IAGP)
Recurrent respiratory infections  (IAGP)
Restrictive ventilatory defect  (IAGP)
Reticulated skin pigmentation  (IAGP)
Ridged nail  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Short stature  (IAGP)
Skin ulcer  (IAGP)
Skin vesicle  (IAGP)
Sparse eyelashes  (IAGP)
Sparse hair  (IAGP)
Sparse scalp hair  (IAGP)
Splenomegaly  (IAGP)
Split nail  (IAGP)
Squamous cell carcinoma  (IAGP)
Strabismus  (IAGP)
Taurodontia  (IAGP)
Telangiectasia of the skin  (IAGP)
Thrombocytopenia  (IAGP)
Tracheoesophageal fistula  (IAGP)
Urethral stenosis  (IAGP)
Ventriculomegaly  (IAGP)
White hair  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:7607282   PMID:8125298   PMID:8889548   PMID:9042917   PMID:9888995   PMID:10217077   PMID:10438713   PMID:10556300   PMID:10591218   PMID:10700698   PMID:10903840   PMID:11074001  
PMID:11076863   PMID:11256614   PMID:11379875   PMID:11790298   PMID:12135483   PMID:12137939   PMID:12429849   PMID:12437656   PMID:12477932   PMID:12736709   PMID:15044956   PMID:15060173  
PMID:15189140   PMID:15302935   PMID:15489334   PMID:15489336   PMID:15613268   PMID:15635413   PMID:15814878   PMID:16083285   PMID:16169070   PMID:16344560   PMID:16381901   PMID:16565220  
PMID:16601202   PMID:16618814   PMID:16690864   PMID:16964243   PMID:17015423   PMID:17081983   PMID:17361185   PMID:17395830   PMID:17417794   PMID:17620599   PMID:17625368   PMID:17822678  
PMID:18005359   PMID:18029348   PMID:18057229   PMID:18082603   PMID:18358808   PMID:18607840   PMID:18627054   PMID:18802941   PMID:18936525   PMID:19095616   PMID:19179534   PMID:19383767  
PMID:19460752   PMID:19615732   PMID:19734544   PMID:19755982   PMID:19835419   PMID:19879169   PMID:20008900   PMID:20301779   PMID:20332657   PMID:20351177   PMID:20360068   PMID:20501855  
PMID:20811636   PMID:21081503   PMID:21145461   PMID:21182205   PMID:21415081   PMID:21480387   PMID:21601430   PMID:21674675   PMID:21736606   PMID:21820037   PMID:21846770   PMID:21873635  
PMID:21900206   PMID:21931644   PMID:22058290   PMID:22085966   PMID:22099312   PMID:22113938   PMID:22527283   PMID:22658674   PMID:22664374   PMID:22912812   PMID:22939629   PMID:22990118  
PMID:23246433   PMID:23335200   PMID:23348390   PMID:23660516   PMID:23685356   PMID:23752268   PMID:24219293   PMID:24303026   PMID:24366813   PMID:24457600   PMID:24504062   PMID:24550385  
PMID:24591637   PMID:24690175   PMID:24711643   PMID:24778252   PMID:24914498   PMID:24965446   PMID:25219674   PMID:25367684   PMID:25416818   PMID:25467444   PMID:25499969   PMID:25515538  
PMID:25540932   PMID:25553844   PMID:25659154   PMID:25665578   PMID:25693804   PMID:25825154   PMID:25906515   PMID:25921289   PMID:25948554   PMID:26186194   PMID:26301749   PMID:26344197  
PMID:26366868   PMID:26399832   PMID:26472758   PMID:26496610   PMID:26571381   PMID:26673895   PMID:26725010   PMID:26777405   PMID:26950371   PMID:27018886   PMID:27197171   PMID:27248496  
PMID:27570172   PMID:28514442   PMID:28515276   PMID:28561026   PMID:28695742   PMID:28718761   PMID:28977666   PMID:28986522   PMID:29128334   PMID:29132127   PMID:29178645   PMID:29229926  
PMID:29298432   PMID:29467282   PMID:29478914   PMID:29511261   PMID:29568061   PMID:29672884   PMID:29695869   PMID:29801475   PMID:29802200   PMID:29901172   PMID:29911972   PMID:30021884  
PMID:30185935   PMID:30209976   PMID:30415952   PMID:30462309   PMID:30463901   PMID:30804502   PMID:30833792   PMID:30847721   PMID:30931479   PMID:30940648   PMID:30948266   PMID:31180492  
PMID:31239290   PMID:31343991   PMID:31365120   PMID:31412274   PMID:31586073   PMID:31822558   PMID:31857720   PMID:32203420   PMID:32416067   PMID:32554502   PMID:32694731   PMID:32780723  
PMID:32838362   PMID:32868896   PMID:32877691   PMID:32910990   PMID:33003434  


Genomics

Comparative Map Data
DKC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX154,762,742 - 154,777,689 (+)EnsemblGRCh38hg38GRCh38
GRCh38X154,762,864 - 154,777,689 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,991,139 - 154,005,964 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,644,344 - 153,659,154 (+)NCBINCBI36hg18NCBI36
Build 34X153,554,853 - 153,569,664NCBI
CeleraX154,149,596 - 154,164,527 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,534,593 - 142,549,324 (+)NCBIHuRef
CHM1_1X153,902,709 - 153,917,646 (+)NCBICHM1_1
Dkc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X74,139,460 - 74,153,382 (+)NCBIGRCm39mm39
GRCm39 EnsemblX74,139,460 - 74,153,383 (+)Ensembl
GRCm38X75,095,854 - 75,109,776 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX75,095,854 - 75,109,777 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X72,341,193 - 72,355,115 (+)NCBIGRCm37mm9NCBIm37
CeleraX66,500,704 - 66,514,600 (+)NCBICelera
Cytogenetic MapXA7.3NCBI
Dkc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0 EnsemblX155,844,857 - 155,862,475 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X155,844,914 - 155,862,363 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01151,564,354 - 151,578,635 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1135,295,501 - 135,310,658 (-)ENTREZGENECelera
Cytogenetic MapXq37NCBI
Dkc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955594847,815 - 856,510 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955594846,997 - 857,255 (-)NCBIChiLan1.0ChiLan1.0
DKC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X154,084,412 - 154,098,475 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX154,084,412 - 154,098,475 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X144,243,493 - 144,257,419 (+)NCBIMhudiblu_PPA_v0panPan3
DKC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X122,838,787 - 122,850,870 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX122,838,645 - 122,850,884 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX107,832,003 - 107,844,116 (+)NCBI
ROS_Cfam_1.0X125,964,983 - 125,977,098 (+)NCBI
UMICH_Zoey_3.1X121,712,979 - 121,725,092 (+)NCBI
UNSW_CanFamBas_1.0X124,236,220 - 124,248,333 (+)NCBI
UU_Cfam_GSD_1.0X123,929,308 - 123,941,420 (+)NCBI
Dkc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,776,274 - 119,785,590 (+)NCBI
SpeTri2.0NW_004936927134,770 - 144,057 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DKC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX125,218,923 - 125,229,529 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X125,218,928 - 125,228,881 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X143,254,306 - 143,264,249 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DKC1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X129,015,883 - 129,029,741 (+)NCBI
ChlSab1.1 EnsemblX129,016,046 - 129,030,001 (+)Ensembl
Dkc1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624963468,673 - 479,317 (-)NCBI

Position Markers
A004F19  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,005,656 - 154,005,943UniSTSGRCh37
Build 36X153,658,850 - 153,659,137RGDNCBI36
CeleraX154,164,219 - 154,164,506RGD
Cytogenetic MapXq28UniSTS
HuRefX142,549,016 - 142,549,303UniSTS
GeneMap99-GB4 RH MapX354.15UniSTS
ECD00413  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,993,088 - 153,993,996UniSTSGRCh37
Build 36X153,646,282 - 153,647,190RGDNCBI36
CeleraX154,151,653 - 154,152,561RGD
Cytogenetic MapXq28UniSTS
HuRefX142,536,741 - 142,537,649UniSTS
ECD06413  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,002,283 - 154,002,992UniSTSGRCh37
Build 36X153,655,477 - 153,656,186RGDNCBI36
CeleraX154,160,846 - 154,161,555RGD
Cytogenetic MapXq28UniSTS
HuRefX142,545,644 - 142,546,353UniSTS
ECD06938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,003,770 - 154,004,465UniSTSGRCh37
Build 36X153,656,964 - 153,657,659RGDNCBI36
CeleraX154,162,333 - 154,163,028RGD
Cytogenetic MapXq28UniSTS
HuRefX142,547,131 - 142,547,826UniSTS
ECD07325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,003,031 - 154,003,715UniSTSGRCh37
Build 36X153,656,225 - 153,656,909RGDNCBI36
CeleraX154,161,594 - 154,162,278RGD
Cytogenetic MapXq28UniSTS
HuRefX142,546,392 - 142,547,076UniSTS
ECD08242  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,000,886 - 154,001,546UniSTSGRCh37
Build 36X153,654,080 - 153,654,740RGDNCBI36
CeleraX154,159,449 - 154,160,109RGD
Cytogenetic MapXq28UniSTS
HuRefX142,544,341 - 142,545,001UniSTS
ECD09694  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,994,818 - 153,995,440UniSTSGRCh37
Build 36X153,648,012 - 153,648,634RGDNCBI36
CeleraX154,153,383 - 154,154,005RGD
Cytogenetic MapXq28UniSTS
HuRefX142,538,471 - 142,539,093UniSTS
ECD09953  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,994,099 - 153,994,714UniSTSGRCh37
Build 36X153,647,293 - 153,647,908RGDNCBI36
CeleraX154,152,664 - 154,153,279RGD
Cytogenetic MapXq28UniSTS
HuRefX142,537,752 - 142,538,367UniSTS
ECD10168  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,995,466 - 153,996,075UniSTSGRCh37
Build 36X153,648,660 - 153,649,269RGDNCBI36
CeleraX154,154,031 - 154,154,640RGD
Cytogenetic MapXq28UniSTS
HuRefX142,539,119 - 142,539,728UniSTS
ECD11313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,997,863 - 153,998,439UniSTSGRCh37
Build 36X153,651,057 - 153,651,633RGDNCBI36
CeleraX154,156,426 - 154,157,002RGD
Cytogenetic MapXq28UniSTS
HuRefX142,541,316 - 142,541,892UniSTS
ECD11405  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,990,700 - 153,991,273UniSTSGRCh37
Build 36X153,643,894 - 153,644,467RGDNCBI36
CeleraX154,149,265 - 154,149,838RGD
Cytogenetic MapXq28UniSTS
HuRefX142,534,262 - 142,534,835UniSTS
ECD11985  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,005,699 - 154,006,255UniSTSGRCh37
Build 36X153,658,893 - 153,659,449RGDNCBI36
CeleraX154,164,262 - 154,164,818RGD
Cytogenetic MapXq28UniSTS
HuRefX142,549,059 - 142,549,615UniSTS
ECD13062  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,005,149 - 154,005,676UniSTSGRCh37
Build 36X153,658,343 - 153,658,870RGDNCBI36
CeleraX154,163,712 - 154,164,239RGD
Cytogenetic MapXq28UniSTS
HuRefX142,548,510 - 142,549,036UniSTS
ECD14101  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,996,477 - 153,996,978UniSTSGRCh37
Build 36X153,649,671 - 153,650,172RGDNCBI36
CeleraX154,155,041 - 154,155,542RGD
Cytogenetic MapXq28UniSTS
ECD15062  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,991,388 - 153,991,867UniSTSGRCh37
Build 36X153,644,582 - 153,645,061RGDNCBI36
CeleraX154,149,953 - 154,150,432RGD
Cytogenetic MapXq28UniSTS
HuRefX142,534,950 - 142,535,429UniSTS
ECD15063  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,004,609 - 154,005,088UniSTSGRCh37
Build 36X153,657,803 - 153,658,282RGDNCBI36
CeleraX154,163,172 - 154,163,651RGD
Cytogenetic MapXq28UniSTS
HuRefX142,547,970 - 142,548,449UniSTS
ECD18018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,998,774 - 153,999,150UniSTSGRCh37
Build 36X153,651,968 - 153,652,344RGDNCBI36
CeleraX154,157,337 - 154,157,713RGD
Cytogenetic MapXq28UniSTS
HuRefX142,542,228 - 142,542,604UniSTS
ECD18896  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,997,302 - 153,997,645UniSTSGRCh37
Build 36X153,650,496 - 153,650,839RGDNCBI36
CeleraX154,155,865 - 154,156,208RGD
Cytogenetic MapXq28UniSTS
HuRefX142,540,755 - 142,541,098UniSTS
REN90571  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,989,045 - 153,989,296UniSTSGRCh37
Build 36X153,642,239 - 153,642,490RGDNCBI36
CeleraX154,147,611 - 154,147,862RGD
Cytogenetic MapXq28UniSTS
HuRefX142,532,713 - 142,532,964UniSTS
REN90572  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,989,288 - 153,989,514UniSTSGRCh37
Build 36X153,642,482 - 153,642,708RGDNCBI36
CeleraX154,147,854 - 154,148,080RGD
Cytogenetic MapXq28UniSTS
HuRefX142,532,956 - 142,533,182UniSTS
REN90573  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,989,492 - 153,989,758UniSTSGRCh37
Build 36X153,642,686 - 153,642,952RGDNCBI36
CeleraX154,148,058 - 154,148,324RGD
Cytogenetic MapXq28UniSTS
REN90574  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,989,735 - 153,989,984UniSTSGRCh37
Build 36X153,642,929 - 153,643,178RGDNCBI36
CeleraX154,148,301 - 154,148,550RGD
Cytogenetic MapXq28UniSTS
REN90575  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,989,959 - 153,990,210UniSTSGRCh37
Build 36X153,643,153 - 153,643,404RGDNCBI36
CeleraX154,148,525 - 154,148,776RGD
Cytogenetic MapXq28UniSTS
HuRefX142,533,522 - 142,533,773UniSTS
REN90576  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,990,187 - 153,990,456UniSTSGRCh37
Build 36X153,643,381 - 153,643,650RGDNCBI36
CeleraX154,148,753 - 154,149,022RGD
Cytogenetic MapXq28UniSTS
HuRefX142,533,750 - 142,534,019UniSTS
REN90577  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,990,436 - 153,990,701UniSTSGRCh37
Build 36X153,643,630 - 153,643,895RGDNCBI36
CeleraX154,149,002 - 154,149,266RGD
Cytogenetic MapXq28UniSTS
HuRefX142,533,999 - 142,534,263UniSTS
REN90578  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,990,678 - 153,990,909UniSTSGRCh37
Build 36X153,643,872 - 153,644,103RGDNCBI36
CeleraX154,149,243 - 154,149,474RGD
Cytogenetic MapXq28UniSTS
HuRefX142,534,240 - 142,534,471UniSTS
REN90579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,990,774 - 153,991,023UniSTSGRCh37
Build 36X153,643,968 - 153,644,217RGDNCBI36
CeleraX154,149,339 - 154,149,588RGD
Cytogenetic MapXq28UniSTS
HuRefX142,534,336 - 142,534,585UniSTS
REN90580  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,991,033 - 153,991,265UniSTSGRCh37
Build 36X153,644,227 - 153,644,459RGDNCBI36
CeleraX154,149,598 - 154,149,830RGD
Cytogenetic MapXq28UniSTS
HuRefX142,534,595 - 142,534,827UniSTS
REN90581  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,991,232 - 153,991,498UniSTSGRCh37
Build 36X153,644,426 - 153,644,692RGDNCBI36
CeleraX154,149,797 - 154,150,063RGD
Cytogenetic MapXq28UniSTS
HuRefX142,534,794 - 142,535,060UniSTS
REN90582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,991,452 - 153,991,697UniSTSGRCh37
Build 36X153,644,646 - 153,644,891RGDNCBI36
CeleraX154,150,017 - 154,150,262RGD
Cytogenetic MapXq28UniSTS
HuRefX142,535,014 - 142,535,259UniSTS
REN90583  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,991,689 - 153,991,941UniSTSGRCh37
Build 36X153,644,883 - 153,645,135RGDNCBI36
CeleraX154,150,254 - 154,150,506RGD
Cytogenetic MapXq28UniSTS
HuRefX142,535,251 - 142,535,503UniSTS
REN90584  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,991,918 - 153,992,169UniSTSGRCh37
Build 36X153,645,112 - 153,645,363RGDNCBI36
CeleraX154,150,483 - 154,150,734RGD
Cytogenetic MapXq28UniSTS
HuRefX142,535,480 - 142,535,731UniSTS
REN90585  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,992,049 - 153,992,307UniSTSGRCh37
Build 36X153,645,243 - 153,645,501RGDNCBI36
CeleraX154,150,614 - 154,150,872RGD
Cytogenetic MapXq28UniSTS
HuRefX142,535,611 - 142,535,869UniSTS
REN90586  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,992,344 - 153,992,576UniSTSGRCh37
Build 36X153,645,538 - 153,645,770RGDNCBI36
CeleraX154,150,909 - 154,151,141RGD
Cytogenetic MapXq28UniSTS
REN90587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,992,552 - 153,992,813UniSTSGRCh37
Build 36X153,645,746 - 153,646,007RGDNCBI36
CeleraX154,151,117 - 154,151,378RGD
Cytogenetic MapXq28UniSTS
REN90588  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,992,804 - 153,993,042UniSTSGRCh37
Build 36X153,645,998 - 153,646,236RGDNCBI36
CeleraX154,151,369 - 154,151,607RGD
Cytogenetic MapXq28UniSTS
REN90589  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,993,036 - 153,993,261UniSTSGRCh37
Build 36X153,646,230 - 153,646,455RGDNCBI36
CeleraX154,151,601 - 154,151,826RGD
Cytogenetic MapXq28UniSTS
HuRefX142,536,689 - 142,536,914UniSTS
REN90590  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,993,238 - 153,993,484UniSTSGRCh37
Build 36X153,646,432 - 153,646,678RGDNCBI36
CeleraX154,151,803 - 154,152,049RGD
Cytogenetic MapXq28UniSTS
HuRefX142,536,891 - 142,537,137UniSTS
REN90591  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,993,449 - 153,993,697UniSTSGRCh37
Build 36X153,646,643 - 153,646,891RGDNCBI36
CeleraX154,152,014 - 154,152,262RGD
Cytogenetic MapXq28UniSTS
HuRefX142,537,102 - 142,537,350UniSTS
REN90592  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,993,676 - 153,993,932UniSTSGRCh37
Build 36X153,646,870 - 153,647,126RGDNCBI36
CeleraX154,152,241 - 154,152,497RGD
Cytogenetic MapXq28UniSTS
HuRefX142,537,329 - 142,537,585UniSTS
REN90593  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,993,915 - 153,994,162UniSTSGRCh37
Build 36X153,647,109 - 153,647,356RGDNCBI36
CeleraX154,152,480 - 154,152,727RGD
Cytogenetic MapXq28UniSTS
HuRefX142,537,568 - 142,537,815UniSTS
REN90594  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,994,158 - 153,994,407UniSTSGRCh37
Build 36X153,647,352 - 153,647,601RGDNCBI36
CeleraX154,152,723 - 154,152,972RGD
Cytogenetic MapXq28UniSTS
HuRefX142,537,811 - 142,538,060UniSTS
REN90595  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,994,386 - 153,994,634UniSTSGRCh37
Build 36X153,647,580 - 153,647,828RGDNCBI36
CeleraX154,152,951 - 154,153,199RGD
Cytogenetic MapXq28UniSTS
HuRefX142,538,039 - 142,538,287UniSTS
REN90596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,994,616 - 153,994,840UniSTSGRCh37
Build 36X153,647,810 - 153,648,034RGDNCBI36
CeleraX154,153,181 - 154,153,405RGD
Cytogenetic MapXq28UniSTS
HuRefX142,538,269 - 142,538,493UniSTS
REN90597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,994,827 - 153,995,076UniSTSGRCh37
Build 36X153,648,021 - 153,648,270RGDNCBI36
CeleraX154,153,392 - 154,153,641RGD
Cytogenetic MapXq28UniSTS
HuRefX142,538,480 - 142,538,729UniSTS
REN90598  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,995,071 - 153,995,296UniSTSGRCh37
Build 36X153,648,265 - 153,648,490RGDNCBI36
CeleraX154,153,636 - 154,153,861RGD
Cytogenetic MapXq28UniSTS
HuRefX142,538,724 - 142,538,949UniSTS
REN90599  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,995,272 - 153,995,535UniSTSGRCh37
Build 36X153,648,466 - 153,648,729RGDNCBI36
CeleraX154,153,837 - 154,154,100RGD
Cytogenetic MapXq28UniSTS
HuRefX142,538,925 - 142,539,188UniSTS
REN90600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,995,527 - 153,995,761UniSTSGRCh37
Build 36X153,648,721 - 153,648,955RGDNCBI36
CeleraX154,154,092 - 154,154,326RGD
Cytogenetic MapXq28UniSTS
HuRefX142,539,180 - 142,539,414UniSTS
REN90601  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,995,760 - 153,995,995UniSTSGRCh37
Build 36X153,648,954 - 153,649,189RGDNCBI36
CeleraX154,154,325 - 154,154,560RGD
Cytogenetic MapXq28UniSTS
HuRefX142,539,413 - 142,539,648UniSTS
REN90602  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,995,865 - 153,996,089UniSTSGRCh37
Build 36X153,649,059 - 153,649,283RGDNCBI36
CeleraX154,154,430 - 154,154,654RGD
Cytogenetic MapXq28UniSTS
HuRefX142,539,518 - 142,539,742UniSTS
REN90603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,996,422 - 153,996,656UniSTSGRCh37
Build 36X153,649,616 - 153,649,850RGDNCBI36
CeleraX154,154,986 - 154,155,220RGD
Cytogenetic MapXq28UniSTS
REN90604  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,996,650 - 153,996,897UniSTSGRCh37
Build 36X153,649,844 - 153,650,091RGDNCBI36
CeleraX154,155,214 - 154,155,461RGD
Cytogenetic MapXq28UniSTS
HuRefX142,540,103 - 142,540,350UniSTS
REN90605  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,996,745 - 153,996,985UniSTSGRCh37
Build 36X153,649,939 - 153,650,179RGDNCBI36
CeleraX154,155,309 - 154,155,549RGD
Cytogenetic MapXq28UniSTS
HuRefX142,540,198 - 142,540,438UniSTS
REN90606  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,997,300 - 153,997,531UniSTSGRCh37
Build 36X153,650,494 - 153,650,725RGDNCBI36
CeleraX154,155,863 - 154,156,094RGD
Cytogenetic MapXq28UniSTS
HuRefX142,540,753 - 142,540,984UniSTS
REN90607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,997,523 - 153,997,762UniSTSGRCh37
Build 36X153,650,717 - 153,650,956RGDNCBI36
CeleraX154,156,086 - 154,156,325RGD
Cytogenetic MapXq28UniSTS
HuRefX142,540,976 - 142,541,215UniSTS
REN90608  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,997,623 - 153,997,884UniSTSGRCh37
Build 36X153,650,817 - 153,651,078RGDNCBI36
CeleraX154,156,186 - 154,156,447RGD
Cytogenetic MapXq28UniSTS
HuRefX142,541,076 - 142,541,337UniSTS
REN90609  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,997,862 - 153,998,109UniSTSGRCh37
Build 36X153,651,056 - 153,651,303RGDNCBI36
CeleraX154,156,425 - 154,156,672RGD
Cytogenetic MapXq28UniSTS
HuRefX142,541,315 - 142,541,562UniSTS
REN90610  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,998,086 - 153,998,333UniSTSGRCh37
Build 36X153,651,280 - 153,651,527RGDNCBI36
CeleraX154,156,649 - 154,156,896RGD
Cytogenetic MapXq28UniSTS
HuRefX142,541,539 - 142,541,786UniSTS
REN90611  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,998,224 - 153,998,471UniSTSGRCh37
Build 36X153,651,418 - 153,651,665RGDNCBI36
CeleraX154,156,787 - 154,157,034RGD
Cytogenetic MapXq28UniSTS
HuRefX142,541,677 - 142,541,924UniSTS
REN90612  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,998,710 - 153,998,935UniSTSGRCh37
Build 36X153,651,904 - 153,652,129RGDNCBI36
CeleraX154,157,273 - 154,157,498RGD
Cytogenetic MapXq28UniSTS
HuRefX142,542,163 - 142,542,389UniSTS
REN90613  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,998,907 - 153,999,161UniSTSGRCh37
Build 36X153,652,101 - 153,652,355RGDNCBI36
CeleraX154,157,470 - 154,157,724RGD
Cytogenetic MapXq28UniSTS
HuRefX142,542,361 - 142,542,615UniSTS
REN90614  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,999,063 - 153,999,299UniSTSGRCh37
Build 36X153,652,257 - 153,652,493RGDNCBI36
CeleraX154,157,626 - 154,157,862RGD
Cytogenetic MapXq28UniSTS
HuRefX142,542,517 - 142,542,753UniSTS
REN90615  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,999,276 - 153,999,512UniSTSGRCh37
Build 36X153,652,470 - 153,652,706RGDNCBI36
CeleraX154,157,839 - 154,158,075RGD
Cytogenetic MapXq28UniSTS
HuRefX142,542,730 - 142,542,966UniSTS
REN90616  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,999,872 - 154,000,139UniSTSGRCh37
Build 36X153,653,066 - 153,653,333RGDNCBI36
CeleraX154,158,435 - 154,158,702RGD
Cytogenetic MapXq28UniSTS
HuRefX142,543,327 - 142,543,594UniSTS
REN90617  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,000,118 - 154,000,389UniSTSGRCh37
Build 36X153,653,312 - 153,653,583RGDNCBI36
CeleraX154,158,681 - 154,158,952RGD
Cytogenetic MapXq28UniSTS
HuRefX142,543,573 - 142,543,844UniSTS
REN90618  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,000,353 - 154,000,582UniSTSGRCh37
Build 36X153,653,547 - 153,653,776RGDNCBI36
CeleraX154,158,916 - 154,159,145RGD
Cytogenetic MapXq28UniSTS
HuRefX142,543,808 - 142,544,037UniSTS
REN90619  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,000,679 - 154,000,909UniSTSGRCh37
Build 36X153,653,873 - 153,654,103RGDNCBI36
CeleraX154,159,242 - 154,159,472RGD
Cytogenetic MapXq28UniSTS
HuRefX142,544,134 - 142,544,364UniSTS
REN90620  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,000,886 - 154,001,137UniSTSGRCh37
Build 36X153,654,080 - 153,654,331RGDNCBI36
CeleraX154,159,449 - 154,159,700RGD
Cytogenetic MapXq28UniSTS
HuRefX142,544,341 - 142,544,592UniSTS
REN90621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,001,114 - 154,001,353UniSTSGRCh37
Build 36X153,654,308 - 153,654,547RGDNCBI36
CeleraX154,159,677 - 154,159,916RGD
Cytogenetic MapXq28UniSTS
HuRefX142,544,569 - 142,544,808UniSTS
REN90622  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,001,317 - 154,001,541UniSTSGRCh37
Build 36X153,654,511 - 153,654,735RGDNCBI36
CeleraX154,159,880 - 154,160,104RGD
Cytogenetic MapXq28UniSTS
HuRefX142,544,772 - 142,544,996UniSTS
REN90623  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,002,242 - 154,002,466UniSTSGRCh37
GRCh37X154,001,546 - 154,002,466UniSTSGRCh37
Build 36X153,655,436 - 153,655,660RGDNCBI36
CeleraX154,160,109 - 154,161,029UniSTS
CeleraX154,160,805 - 154,161,029RGD
Cytogenetic MapXq28UniSTS
HuRefX142,545,603 - 142,545,827UniSTS
HuRefX142,545,001 - 142,545,827UniSTS
REN90624  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,002,459 - 154,002,714UniSTSGRCh37
Build 36X153,655,653 - 153,655,908RGDNCBI36
CeleraX154,161,022 - 154,161,277RGD
Cytogenetic MapXq28UniSTS
HuRefX142,545,820 - 142,546,075UniSTS
REN90625  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,002,705 - 154,002,953UniSTSGRCh37
Build 36X153,655,899 - 153,656,147RGDNCBI36
CeleraX154,161,268 - 154,161,516RGD
Cytogenetic MapXq28UniSTS
HuRefX142,546,066 - 142,546,314UniSTS
REN90626  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,002,952 - 154,003,206UniSTSGRCh37
Build 36X153,656,146 - 153,656,400RGDNCBI36
CeleraX154,161,515 - 154,161,769RGD
Cytogenetic MapXq28UniSTS
HuRefX142,546,313 - 142,546,567UniSTS
REN90627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,003,205 - 154,003,430UniSTSGRCh37
Build 36X153,656,399 - 153,656,624RGDNCBI36
CeleraX154,161,768 - 154,161,993RGD
Cytogenetic MapXq28UniSTS
HuRefX142,546,566 - 142,546,791UniSTS
REN90628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,003,407 - 154,003,661UniSTSGRCh37
Build 36X153,656,601 - 153,656,855RGDNCBI36
CeleraX154,161,970 - 154,162,224RGD
Cytogenetic MapXq28UniSTS
HuRefX142,546,768 - 142,547,022UniSTS
REN90629  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,003,642 - 154,003,900UniSTSGRCh37
Build 36X153,656,836 - 153,657,094RGDNCBI36
CeleraX154,162,205 - 154,162,463RGD
Cytogenetic MapXq28UniSTS
HuRefX142,547,003 - 142,547,261UniSTS
REN90630  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,003,889 - 154,004,154UniSTSGRCh37
Build 36X153,657,083 - 153,657,348RGDNCBI36
CeleraX154,162,452 - 154,162,717RGD
Cytogenetic MapXq28UniSTS
HuRefX142,547,250 - 142,547,515UniSTS
REN90631  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,004,131 - 154,004,378UniSTSGRCh37
Build 36X153,657,325 - 153,657,572RGDNCBI36
CeleraX154,162,694 - 154,162,941RGD
Cytogenetic MapXq28UniSTS
HuRefX142,547,492 - 142,547,739UniSTS
REN90632  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,004,354 - 154,004,613UniSTSGRCh37
Build 36X153,657,548 - 153,657,807RGDNCBI36
CeleraX154,162,917 - 154,163,176RGD
Cytogenetic MapXq28UniSTS
HuRefX142,547,715 - 142,547,974UniSTS
REN90633  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,004,602 - 154,004,866UniSTSGRCh37
Build 36X153,657,796 - 153,658,060RGDNCBI36
CeleraX154,163,165 - 154,163,429RGD
Cytogenetic MapXq28UniSTS
HuRefX142,547,963 - 142,548,227UniSTS
REN90634  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,004,843 - 154,005,096UniSTSGRCh37
Build 36X153,658,037 - 153,658,290RGDNCBI36
CeleraX154,163,406 - 154,163,659RGD
Cytogenetic MapXq28UniSTS
HuRefX142,548,204 - 142,548,457UniSTS
REN90635  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,005,073 - 154,005,329UniSTSGRCh37
Build 36X153,658,267 - 153,658,523RGDNCBI36
CeleraX154,163,636 - 154,163,892RGD
Cytogenetic MapXq28UniSTS
HuRefX142,548,434 - 142,548,689UniSTS
REN90636  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,005,327 - 154,005,553UniSTSGRCh37
Build 36X153,658,521 - 153,658,747RGDNCBI36
CeleraX154,163,890 - 154,164,116RGD
Cytogenetic MapXq28UniSTS
HuRefX142,548,687 - 142,548,913UniSTS
REN90637  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,005,526 - 154,005,778UniSTSGRCh37
Build 36X153,658,720 - 153,658,972RGDNCBI36
CeleraX154,164,089 - 154,164,341RGD
Cytogenetic MapXq28UniSTS
HuRefX142,548,886 - 142,549,138UniSTS
REN90638  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,005,737 - 154,005,986UniSTSGRCh37
Build 36X153,658,931 - 153,659,180RGDNCBI36
CeleraX154,164,300 - 154,164,549RGD
Cytogenetic MapXq28UniSTS
HuRefX142,549,097 - 142,549,346UniSTS
REN90639  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,005,962 - 154,006,223UniSTSGRCh37
Build 36X153,659,156 - 153,659,417RGDNCBI36
CeleraX154,164,525 - 154,164,786RGD
Cytogenetic MapXq28UniSTS
HuRefX142,549,322 - 142,549,583UniSTS
REN90640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,006,058 - 154,006,283UniSTSGRCh37
Build 36X153,659,252 - 153,659,477RGDNCBI36
CeleraX154,164,621 - 154,164,846RGD
Cytogenetic MapXq28UniSTS
HuRefX142,549,418 - 142,549,643UniSTS
stSG604275  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,991,864 - 153,993,242UniSTSGRCh37
Build 36X153,645,058 - 153,646,436RGDNCBI36
CeleraX154,150,429 - 154,151,807RGD
HuRefX142,535,426 - 142,536,895UniSTS
stSG604276  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,993,223 - 153,994,665UniSTSGRCh37
Build 36X153,646,417 - 153,647,859RGDNCBI36
CeleraX154,151,788 - 154,153,230RGD
Cytogenetic MapXq28UniSTS
HuRefX142,536,876 - 142,538,318UniSTS
stSG604279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,996,036 - 153,997,452UniSTSGRCh37
Build 36X153,649,230 - 153,650,646RGDNCBI36
CeleraX154,154,601 - 154,156,015RGD
HuRefX142,539,689 - 142,540,905UniSTS
stSG604280  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,997,445 - 153,998,852UniSTSGRCh37
Build 36X153,650,639 - 153,652,046RGDNCBI36
CeleraX154,156,008 - 154,157,415RGD
HuRefX142,540,898 - 142,542,306UniSTS
stSG604281  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,998,147 - 153,999,150UniSTSGRCh37
Build 36X153,651,341 - 153,652,344RGDNCBI36
CeleraX154,156,710 - 154,157,713RGD
HuRefX142,541,600 - 142,542,604UniSTS
stSG604282  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,001,020 - 154,002,293UniSTSGRCh37
Build 36X153,654,214 - 153,655,487RGDNCBI36
CeleraX154,159,583 - 154,160,856RGD
HuRefX142,544,475 - 142,545,654UniSTS
stSG604284  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,003,770 - 154,004,801UniSTSGRCh37
Build 36X153,656,964 - 153,657,995RGDNCBI36
CeleraX154,162,333 - 154,163,364RGD
HuRefX142,547,131 - 142,548,162UniSTS
stSG604285  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,004,822 - 154,006,145UniSTSGRCh37
Build 36X153,658,016 - 153,659,339RGDNCBI36
CeleraX154,163,385 - 154,164,708RGD
HuRefX142,548,183 - 142,549,505UniSTS
IB1223  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,005,714 - 154,005,886UniSTSGRCh37
Build 36X153,658,908 - 153,659,080RGDNCBI36
CeleraX154,164,277 - 154,164,449RGD
Cytogenetic MapXq28UniSTS
HuRefX142,549,074 - 142,549,246UniSTS
GeneMap99-GB4 RH MapX354.15UniSTS
Whitehead-RH MapX326.5UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR150hsa-miR-150-5pOncomiRDBexternal_infoNANA21502955

Predicted Target Of
Summary Value
Count of predictions:2360
Count of miRNA genes:1154
Interacting mature miRNAs:1420
Transcripts:ENST00000369550, ENST00000412124, ENST00000413910, ENST00000426673, ENST00000437719, ENST00000452771, ENST00000473552, ENST00000475423, ENST00000475966, ENST00000481062, ENST00000484317, ENST00000492372
Prediction methods:Microtar, Miranda, Pita, Pita,Targetscan, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 1
Medium 2398 1993 1553 460 1382 302 4322 1858 2940 359 1447 1605 171 1202 2755 4
Low 41 997 173 164 567 163 35 339 794 60 12 8 4 1 2 33 2 2
Below cutoff 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001288747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_110021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_110022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_110023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC087225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC109993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF067008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ012083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ224481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ416347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI858251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU730947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD367400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA429806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB517187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY050100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JF279874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC954523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC954524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC954525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U59151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000369550   ⟹   ENSP00000358563
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,762,864 - 154,777,689 (+)Ensembl
RefSeq Acc Id: ENST00000412124   ⟹   ENSP00000389304
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,767,016 - 154,776,260 (+)Ensembl
RefSeq Acc Id: ENST00000413910   ⟹   ENSP00000400542
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,762,891 - 154,769,291 (+)Ensembl
RefSeq Acc Id: ENST00000426673   ⟹   ENSP00000407253
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,768,302 - 154,776,272 (+)Ensembl
RefSeq Acc Id: ENST00000437719   ⟹   ENSP00000395693
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,764,927 - 154,768,358 (+)Ensembl
RefSeq Acc Id: ENST00000452771   ⟹   ENSP00000407325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,764,925 - 154,769,210 (+)Ensembl
RefSeq Acc Id: ENST00000473552
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,762,913 - 154,766,555 (+)Ensembl
RefSeq Acc Id: ENST00000475423
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,762,852 - 154,765,355 (+)Ensembl
RefSeq Acc Id: ENST00000475966
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,768,543 - 154,776,261 (+)Ensembl
RefSeq Acc Id: ENST00000481062
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,773,144 - 154,775,314 (+)Ensembl
RefSeq Acc Id: ENST00000484317
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,768,024 - 154,770,876 (+)Ensembl
RefSeq Acc Id: ENST00000492372
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,775,119 - 154,776,911 (+)Ensembl
RefSeq Acc Id: ENST00000620277   ⟹   ENSP00000478387
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,762,742 - 154,777,688 (+)Ensembl
RefSeq Acc Id: NM_001142463   ⟹   NP_001135935
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,762,864 - 154,777,689 (+)NCBI
GRCh37X153,991,031 - 154,005,964 (+)ENTREZGENE
HuRefX142,534,579 - 142,549,324 (+)NCBI
CHM1_1X153,902,709 - 153,917,646 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001288747   ⟹   NP_001275676
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,762,864 - 154,777,689 (+)NCBI
HuRefX142,534,579 - 142,549,324 (+)NCBI
CHM1_1X153,902,709 - 153,917,646 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363   ⟹   NP_001354
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,762,864 - 154,777,689 (+)NCBI
GRCh37X153,991,031 - 154,005,964 (+)ENTREZGENE
Build 36X153,644,344 - 153,659,154 (+)NCBI Archive
HuRefX142,534,579 - 142,549,324 (+)NCBI
CHM1_1X153,902,709 - 153,917,646 (+)NCBI
Sequence:
RefSeq Acc Id: NR_110021
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,762,864 - 154,777,689 (+)NCBI
HuRefX142,534,579 - 142,549,324 (+)NCBI
CHM1_1X153,902,709 - 153,917,646 (+)NCBI
Sequence:
RefSeq Acc Id: NR_110022
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,762,864 - 154,777,689 (+)NCBI
HuRefX142,534,579 - 142,549,324 (+)NCBI
CHM1_1X153,902,709 - 153,917,646 (+)NCBI
Sequence:
RefSeq Acc Id: NR_110023
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,762,864 - 154,777,689 (+)NCBI
HuRefX142,534,579 - 142,549,324 (+)NCBI
CHM1_1X153,902,709 - 153,917,646 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001354   ⟸   NM_001363
- Peptide Label: isoform 1
- UniProtKB: O60832 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135935   ⟸   NM_001142463
- Peptide Label: isoform 2
- UniProtKB: O60832 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001275676   ⟸   NM_001288747
- Peptide Label: isoform 3
- UniProtKB: O60832 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000395693   ⟸   ENST00000437719
RefSeq Acc Id: ENSP00000478387   ⟸   ENST00000620277
RefSeq Acc Id: ENSP00000389304   ⟸   ENST00000412124
RefSeq Acc Id: ENSP00000407253   ⟸   ENST00000426673
RefSeq Acc Id: ENSP00000407325   ⟸   ENST00000452771
RefSeq Acc Id: ENSP00000400542   ⟸   ENST00000413910
RefSeq Acc Id: ENSP00000358563   ⟸   ENST00000369550
Protein Domains
DKCLD   PUA

Promoters
RGD ID:6808617
Promoter ID:HG_KWN:68697
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001142463,   OTTHUMT00000061180,   OTTHUMT00000316150,   OTTHUMT00000316151,   OTTHUMT00000316152
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,643,346 - 153,644,492 (+)MPROMDB
RGD ID:6853092
Promoter ID:EP74367
Type:initiation region
Name:HS_DKC1
Description:Dyskeratosis congenita 1, dyskerin.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,644,362 - 153,644,422EPD
RGD ID:6808624
Promoter ID:HG_KWN:68698
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000316153,   OTTHUMT00000316155
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,646,376 - 153,646,876 (+)MPROMDB
RGD ID:6808621
Promoter ID:HG_KWN:68699
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000061184,   OTTHUMT00000316154
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,647,911 - 153,648,812 (+)MPROMDB
RGD ID:6808623
Promoter ID:HG_KWN:68700
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000384221,   OTTHUMT00000061181,   OTTHUMT00000061182
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,649,591 - 153,650,091 (+)MPROMDB
RGD ID:6808619
Promoter ID:HG_KWN:68701
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000061183
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,654,101 - 153,654,601 (+)MPROMDB
RGD ID:6808622
Promoter ID:HG_KWN:68702
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:OTTHUMT00000127557
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,655,591 - 153,656,942 (+)MPROMDB
RGD ID:13628668
Promoter ID:EPDNEW_H29572
Type:initiation region
Name:DKC1_2
Description:dyskerin pseudouridine synthase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29573  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,762,742 - 154,762,802EPDNEW
RGD ID:13628670
Promoter ID:EPDNEW_H29573
Type:initiation region
Name:DKC1_1
Description:dyskerin pseudouridine synthase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29572  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,762,875 - 154,762,935EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001363.5(DKC1):c.20T>C (p.Ile7Thr) single nucleotide variant Dyskeratosis congenita [RCV001078718]|not provided [RCV000733974] ChrX:154764902 [GRCh38]
ChrX:153993177 [GRCh37]
ChrX:Xq28
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001363.5(DKC1):c.1075G>A (p.Asp359Asn) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000032184] ChrX:154773169 [GRCh38]
ChrX:154001444 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.1150C>T (p.Pro384Ser) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000032185] ChrX:154773244 [GRCh38]
ChrX:154001519 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.1151C>T (p.Pro384Leu) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000032186] ChrX:154773245 [GRCh38]
ChrX:154001520 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000032187] ChrX:154774602 [GRCh38]
ChrX:154002877 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.1193T>C (p.Leu398Pro) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000032189] ChrX:154774639 [GRCh38]
ChrX:154002914 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile) single nucleotide variant Dyskeratosis congenita [RCV001048156]|Dyskeratosis congenita, X-linked [RCV000032192]|not provided [RCV000255428] ChrX:154774669 [GRCh38]
ChrX:154002944 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
NM_001363.5(DKC1):c.127A>G (p.Lys43Glu) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000032194] ChrX:154765486 [GRCh38]
ChrX:153993761 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.4(DKC1):c.-142C>G single nucleotide variant Dyskeratosis congenita, X-linked [RCV000032195]|not provided [RCV000434441]|not specified [RCV000503491] ChrX:154762824 [GRCh38]
ChrX:153991099 [GRCh37]
ChrX:Xq28
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001363.5(DKC1):c.200C>T (p.Thr67Ile) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000032198] ChrX:154765935 [GRCh38]
ChrX:153994210 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.204C>A (p.His68Gln) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000032199] ChrX:154765939 [GRCh38]
ChrX:153994214 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.29C>T (p.Pro10Leu) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000032200] ChrX:154764911 [GRCh38]
ChrX:153993186 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.472C>T (p.Arg158Trp) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000032201]|not provided [RCV000079663] ChrX:154767020 [GRCh38]
ChrX:153995295 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) single nucleotide variant Dyskeratosis congenita [RCV000634503]|Dyskeratosis congenita, X-linked [RCV000032203] ChrX:154769233 [GRCh38]
ChrX:153997508 [GRCh37]
ChrX:Xq28
pathogenic|benign|uncertain significance
NM_001363.5(DKC1):c.911G>A (p.Ser304Asn) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000032204] ChrX:154769306 [GRCh38]
ChrX:153997581 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.91C>G (p.Gln31Glu) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000032205] ChrX:154765450 [GRCh38]
ChrX:153993725 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.941A>G (p.Lys314Arg) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000032206] ChrX:154770784 [GRCh38]
ChrX:153999059 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.949C>G (p.Leu317Val) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000032207] ChrX:154770792 [GRCh38]
ChrX:153999067 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.1039A>G (p.Ile347Val) single nucleotide variant Dyskeratosis congenita [RCV000546953] ChrX:154773133 [GRCh38]
ChrX:154001408 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.289C>A (p.Pro97Thr) single nucleotide variant not provided [RCV000518938] ChrX:154766241 [GRCh38]
ChrX:153994516 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.415G>A (p.Ala139Thr) single nucleotide variant Dyskeratosis congenita [RCV000549452]|not provided [RCV001091838] ChrX:154766367 [GRCh38]
ChrX:153994642 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance
NM_001363.5(DKC1):c.109_111del (p.Leu37del) deletion Dyskeratosis congenita [RCV000634495]|Dyskeratosis congenita, X-linked [RCV000012339] ChrX:154765466..154765468 [GRCh38]
ChrX:153993741..153993743 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NC_000023.11:g.(154776372_154776374)_(154778317_154778319)del deletion Dyskeratosis congenita, X-linked [RCV000012345] ChrX:154776374..154778317 [GRCh38]
ChrX:Xq28
pathogenic
DKC1, -141C-G, PROMOTER single nucleotide variant Dyskeratosis congenita X-linked [RCV000012346] ChrX:Xq28 pathogenic
NM_001363.5(DKC1):c.16+592C>G single nucleotide variant Dyskeratosis congenita, X-linked [RCV000012347] ChrX:154763573 [GRCh38]
ChrX:153991848 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000055630]|Hoyeraal-Hreidarsson syndrome [RCV000012350]|not provided [RCV000479038] ChrX:154766313 [GRCh38]
ChrX:153994588 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000055631]|Hoyeraal-Hreidarsson syndrome [RCV000012351] ChrX:154765472 [GRCh38]
ChrX:153993747 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.91C>A (p.Gln31Lys) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000012352] ChrX:154765450 [GRCh38]
ChrX:153993725 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.1069A>G (p.Thr357Ala) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000012353] ChrX:154773163 [GRCh38]
ChrX:154001438 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.1259+1G>A single nucleotide variant Dyskeratosis congenita, X-linked [RCV000012354] ChrX:154774706 [GRCh38]
ChrX:154002981 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.1036+3A>G single nucleotide variant not provided [RCV000578798] ChrX:154770882 [GRCh38]
ChrX:153999157 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.106T>G (p.Phe36Val) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000012338] ChrX:154765465 [GRCh38]
ChrX:153993740 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.119C>G (p.Pro40Arg) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000012340] ChrX:154765478 [GRCh38]
ChrX:153993753 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr) indel Dyskeratosis congenita, X-linked [RCV000012341] ChrX:154765949..154765950 [GRCh38]
ChrX:153994224..153994225 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000012342] ChrX:154774651 [GRCh38]
ChrX:154002926 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val) single nucleotide variant Dyskeratosis congenita [RCV000464438]|Dyskeratosis congenita, X-linked [RCV000012343] ChrX:154773152 [GRCh38]
ChrX:154001427 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.146C>T (p.Thr49Met) single nucleotide variant Dyskeratosis congenita [RCV000816060]|Dyskeratosis congenita, X-linked [RCV000012349]|not provided [RCV000254868] ChrX:154765505 [GRCh38]
ChrX:153993780 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.1049T>C (p.Met350Thr) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000032182] ChrX:154773143 [GRCh38]
ChrX:154001418 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.1050G>A (p.Met350Ile) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000032183] ChrX:154773144 [GRCh38]
ChrX:154001419 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.115A>G (p.Lys39Glu) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000032188] ChrX:154765474 [GRCh38]
ChrX:153993749 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.1204G>A (p.Gly402Arg) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000032190] ChrX:154774650 [GRCh38]
ChrX:154002925 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.121G>A (p.Glu41Lys) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000032191] ChrX:154765480 [GRCh38]
ChrX:153993755 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000032193] ChrX:154774672 [GRCh38]
ChrX:154002947 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.194G>C (p.Arg65Thr) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000032196] ChrX:154765929 [GRCh38]
ChrX:153994204 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.196A>G (p.Thr66Ala) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000032197] ChrX:154765931 [GRCh38]
ChrX:153994206 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.5C>T (p.Ala2Val) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000032202] ChrX:154762970 [GRCh38]
ChrX:153991245 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.949C>T (p.Leu317Phe) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000032208] ChrX:154770792 [GRCh38]
ChrX:153999067 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.961C>G (p.Leu321Val) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000032209] ChrX:154770804 [GRCh38]
ChrX:153999079 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.965G>A (p.Arg322Gln) single nucleotide variant Dyskeratosis congenita [RCV001294532]|Dyskeratosis congenita, X-linked [RCV000032210] ChrX:154770808 [GRCh38]
ChrX:153999083 [GRCh37]
ChrX:Xq28
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153932045-155611794)x3 copy number gain See cases [RCV000052529] ChrX:153932045..155611794 [GRCh38]
ChrX:152850692..154494649 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001363.5(DKC1):c.166_167delinsTC (p.Leu56Ser) indel Dyskeratosis congenita, X-linked [RCV000059286] ChrX:154765525..154765526 [GRCh38]
ChrX:153993800..153993801 [GRCh37]
ChrX:Xq28
not provided
NM_001363.5(DKC1):c.214C>T (p.Leu72Phe) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000059287] ChrX:154765949 [GRCh38]
ChrX:153994224 [GRCh37]
ChrX:Xq28
not provided
GRCh37/hg19 Xq28(chrX:153576750-154563104)x1 copy number loss See cases [RCV000663390] ChrX:153576750..154563104 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.1147G>A (p.Gly383Ser) single nucleotide variant not provided [RCV000087191] ChrX:154773241 [GRCh38]
ChrX:154001516 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.1461C>T (p.Ala487=) single nucleotide variant not specified [RCV000116876] ChrX:154776309 [GRCh38]
ChrX:154004584 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:154679854-156003229)x1 copy number loss See cases [RCV000136031] ChrX:154679854..156003229 [GRCh38]
ChrX:153908131..155232894 [GRCh37]
ChrX:153561325..154886088 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq28(chrX:154604412-154935279)x3 copy number gain See cases [RCV000137292] ChrX:154604412..154935279 [GRCh38]
ChrX:153485859..153816748 [NCBI36]
ChrX:Xq28
likely pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:154348522-154770053)x2 copy number gain See cases [RCV000140492] ChrX:154348522..154770053 [GRCh38]
ChrX:153576890..153998328 [GRCh37]
ChrX:153230084..153651522 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:154772625-154971051)x3 copy number gain See cases [RCV000143085] ChrX:154772625..154971051 [GRCh38]
ChrX:153654094..153852520 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_001363.5(DKC1):c.369G>T (p.Thr123=) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000787028]|not specified [RCV000153151] ChrX:154766321 [GRCh38]
ChrX:153994596 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_001363.5(DKC1):c.*6G>A single nucleotide variant not specified [RCV000153152] ChrX:154776873 [GRCh38]
ChrX:154005148 [GRCh37]
ChrX:Xq28
benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001363.5(DKC1):c.1494_1496GAA[8] (p.Lys505dup) microsatellite Dyskeratosis congenita [RCV000228305]|Dyskeratosis congenita, X-linked [RCV000615358]|not specified [RCV000192917] ChrX:154776813..154776814 [GRCh38]
ChrX:154005088..154005089 [GRCh37]
ChrX:Xq28
benign|likely benign
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001363.5(DKC1):c.1515A>C (p.Lys505Asn) single nucleotide variant Dyskeratosis congenita [RCV000548376] ChrX:154776837 [GRCh38]
ChrX:154005112 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.1346G>C (p.Arg449Pro) single nucleotide variant Dyskeratosis congenita [RCV000559231] ChrX:154776194 [GRCh38]
ChrX:154004469 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.1345C>G (p.Arg449Gly) single nucleotide variant not provided [RCV000224114] ChrX:154776193 [GRCh38]
ChrX:154004468 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.1494_1496GAA[6] (p.Lys505del) microsatellite Dyskeratosis congenita [RCV000234537]|Dyskeratosis congenita, X-linked [RCV000758194]|not specified [RCV000395921] ChrX:154776814..154776816 [GRCh38]
ChrX:154005089..154005091 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 Xq28(chrX:153627408-154089925)x2 copy number gain See cases [RCV000240046] ChrX:153627408..154089925 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:153928244-154065414)x3 copy number gain See cases [RCV000240020] ChrX:153928244..154065414 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001363.5(DKC1):c.1174A>G (p.Met392Val) single nucleotide variant not specified [RCV000413656] ChrX:154774620 [GRCh38]
ChrX:154002895 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln) single nucleotide variant Congenital cerebellar hypoplasia [RCV001257984]|Dyskeratosis congenita, X-linked [RCV000779660]|not provided [RCV000442656] ChrX:154773227 [GRCh38]
ChrX:154001502 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001363.5(DKC1):c.776A>C (p.His259Pro) single nucleotide variant Dyskeratosis congenita [RCV001079147]|not provided [RCV000420457] ChrX:154769171 [GRCh38]
ChrX:153997446 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_001363.5(DKC1):c.980T>C (p.Ile327Thr) single nucleotide variant not provided [RCV000479908] ChrX:154770823 [GRCh38]
ChrX:153999098 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.259A>G (p.Ile87Val) single nucleotide variant Dyskeratosis congenita [RCV001210991]|not provided [RCV000478198] ChrX:154765994 [GRCh38]
ChrX:153994269 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.1494_1496GAA[9] (p.Lys504_Lys505dup) microsatellite Dyskeratosis congenita [RCV000473584] ChrX:154776813..154776814 [GRCh38]
ChrX:154005088..154005089 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_001363.5(DKC1):c.1317C>T (p.Ala439=) single nucleotide variant Dyskeratosis congenita [RCV000473603] ChrX:154775252 [GRCh38]
ChrX:154003527 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.-74G>A single nucleotide variant not specified [RCV000501610] ChrX:154762892 [GRCh38]
ChrX:153991167 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.1255T>A (p.Tyr419Asn) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000501902] ChrX:154774701 [GRCh38]
ChrX:154002976 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001363.5(DKC1):c.468T>A (p.Ile156=) single nucleotide variant not specified [RCV000499987] ChrX:154767016 [GRCh38]
ChrX:153995291 [GRCh37]
ChrX:Xq28
likely benign
NM_001363.5(DKC1):c.16+5G>A single nucleotide variant not specified [RCV000503052] ChrX:154762986 [GRCh38]
ChrX:153991261 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_001363.5(DKC1):c.1054A>G (p.Thr352Ala) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000491810] ChrX:154773148 [GRCh38]
ChrX:154001423 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_001363.5(DKC1):c.1512G>T (p.Lys504Asn) single nucleotide variant Dyskeratosis congenita [RCV000634490] ChrX:154776834 [GRCh38]
ChrX:154005109 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.84+10A>T single nucleotide variant Dyskeratosis congenita [RCV000634515] ChrX:154764976 [GRCh38]
ChrX:153993251 [GRCh37]
ChrX:Xq28
likely benign
NM_001363.5(DKC1):c.1494_1496GAA[4] (p.Lys503_Lys505del) microsatellite Dyskeratosis congenita [RCV000535422] ChrX:154776814..154776822 [GRCh38]
ChrX:154005089..154005097 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.369= (p.Thr123=) single nucleotide variant Dyskeratosis congenita [RCV000536813] ChrX:154766321 [GRCh38]
ChrX:153994596 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_001363.5(DKC1):c.487A>C (p.Ile163Leu) single nucleotide variant Dyskeratosis congenita [RCV000634485] ChrX:154767035 [GRCh38]
ChrX:153995310 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001363.5(DKC1):c.203A>G (p.His68Arg) single nucleotide variant Dyskeratosis congenita, X-linked [RCV000677353] ChrX:154765938 [GRCh38]
ChrX:153994213 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:153749360-155233731)x3 copy number gain not provided [RCV000684416] ChrX:153749360..155233731 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.622G>A (p.Asp208Asn) single nucleotide variant Dyskeratosis congenita [RCV000687325] ChrX:154767364 [GRCh38]
ChrX:153995639 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001363.5(DKC1):c.1409_1411AGA[2] (p.Lys472del) microsatellite Dyskeratosis congenita [RCV000690270] ChrX:154776256..154776258 [GRCh38]
ChrX:154004531..154004533 [GRCh37]
ChrX:Xq28
benign|uncertain significance
NM_001363.5(DKC1):c.149C>A (p.Ser50Tyr) single nucleotide variant Dyskeratosis congenita [RCV000696342] ChrX:154765508 [GRCh38]
ChrX:153993783 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001363.5(DKC1):c.1533G>C (p.Leu511Phe) single nucleotide variant Dyskeratosis congenita [RCV000703624] ChrX:154776855 [GRCh38]
ChrX:154005130 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg) single nucleotide variant Dyskeratosis congenita [RCV000861992]|History of neurodevelopmental disorder [RCV000721040] ChrX:154776304 [GRCh38]
ChrX:154004579 [GRCh37]
ChrX:Xq28
benign|uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:153904473-155090513)x0 copy number loss not provided [RCV000753943] ChrX:153904473..155090513 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_001363.5(DKC1):c.1074C>T (p.Cys358=) single nucleotide variant not provided [RCV000864776] ChrX:154773168 [GRCh38]
ChrX:154001443 [GRCh37]
ChrX:Xq28
likely benign
NM_001363.5(DKC1):c.1293G>A (p.Val431=) single nucleotide variant Dyskeratosis congenita [RCV000864167] ChrX:154775228 [GRCh38]
ChrX:154003503 [GRCh37]
ChrX:Xq28
likely benign
NM_001363.5(DKC1):c.1350G>C (p.Glu450Asp) single nucleotide variant not provided [RCV000983852] ChrX:154776198 [GRCh38]
ChrX:154004473 [GRCh37]
ChrX:Xq28
likely benign
NM_001363.5(DKC1):c.1206G>A (p.Gly402=) single nucleotide variant Dyskeratosis congenita [RCV000869724] ChrX:154774652 [GRCh38]
ChrX:154002927 [GRCh37]
ChrX:Xq28
likely benign
NM_001363.5(DKC1):c.1431G>A (p.Lys477=) single nucleotide variant Dyskeratosis congenita [RCV000863424] ChrX:154776279 [GRCh38]
ChrX:154004554 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_001363.5(DKC1):c.97G>A (p.Ala33Thr) single nucleotide variant Dyskeratosis congenita [RCV001059143] ChrX:154765456 [GRCh38]
ChrX:153993731 [GRCh37]
ChrX:Xq28
uncertain significance
NC_000023.10:g.(?_153991099)_(154005162_?)dup duplication Dyskeratosis congenita [RCV001032768] ChrX:153991099..154005162 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153761240-155227607) copy number loss not provided [RCV000767811] ChrX:153761240..155227607 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001363.5(DKC1):c.85-4G>A single nucleotide variant Dyskeratosis congenita [RCV000865901] ChrX:154765440 [GRCh38]
ChrX:153993715 [GRCh37]
ChrX:Xq28
likely benign
NM_001363.5(DKC1):c.975C>T (p.Asp325=) single nucleotide variant Dyskeratosis congenita [RCV000868605] ChrX:154770818 [GRCh38]
ChrX:153999093 [GRCh37]
ChrX:Xq28
likely benign
NM_001363.5(DKC1):c.1362A>G (p.Glu454=) single nucleotide variant not provided [RCV000872768] ChrX:154776210 [GRCh38]
ChrX:154004485 [GRCh37]
ChrX:Xq28
likely benign
NM_001363.5(DKC1):c.1494_1496GAA[5] (p.Lys504_Lys505del) microsatellite Dyskeratosis congenita [RCV000983964] ChrX:154776814..154776819 [GRCh38]
ChrX:154005089..154005094 [GRCh37]
ChrX:Xq28
benign
NM_001363.5(DKC1):c.1167G>A (p.Lys389=) single nucleotide variant not provided [RCV000863818] ChrX:154774613 [GRCh38]
ChrX:154002888 [GRCh37]
ChrX:Xq28
likely benign
NM_001363.5(DKC1):c.1339-5C>T single nucleotide variant not provided [RCV000868239] ChrX:154776182 [GRCh38]
ChrX:154004457 [GRCh37]
ChrX:Xq28
likely benign
NM_001363.5(DKC1):c.1509G>A (p.Lys503=) single nucleotide variant not provided [RCV000864544] ChrX:154776831 [GRCh38]
ChrX:154005106 [GRCh37]
ChrX:Xq28
likely benign
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28
pathogenic
NM_001363.5(DKC1):c.828C>T (p.His276=) single nucleotide variant Dyskeratosis congenita [RCV000937023] ChrX:154769223 [GRCh38]
ChrX:153997498 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq28(chrX:153941568-154290231)x2 copy number gain not provided [RCV000846317] ChrX:153941568..154290231 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_001363.5(DKC1):c.39T>C (p.His13=) single nucleotide variant Dyskeratosis congenita [RCV000870147] ChrX:154764921 [GRCh38]
ChrX:153993196 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
NM_001363.5(DKC1):c.133G>A (p.Ala45Thr) single nucleotide variant Dyskeratosis congenita, X-linked [RCV001195949] ChrX:154765492 [GRCh38]
ChrX:153993767 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_001363.5(DKC1):c.263+6T>C single nucleotide variant Dyskeratosis congenita [RCV001225788] ChrX:154766004 [GRCh38]
ChrX:153994279 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.976G>A (p.Gly326Ser) single nucleotide variant Dyskeratosis congenita [RCV001214307] ChrX:154770819 [GRCh38]
ChrX:153999094 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.1524G>T (p.Glu508Asp) single nucleotide variant Dyskeratosis congenita [RCV001240959] ChrX:154776846 [GRCh38]
ChrX:154005121 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.978C>T (p.Gly326=) single nucleotide variant Dyskeratosis congenita [RCV001219330] ChrX:154770821 [GRCh38]
ChrX:153999096 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NM_001363.5(DKC1):c.915+10G>A single nucleotide variant not provided [RCV000933136] ChrX:154769320 [GRCh38]
ChrX:153997595 [GRCh37]
ChrX:Xq28
likely benign
NM_001363.5(DKC1):c.1155+8G>A single nucleotide variant not provided [RCV000870455] ChrX:154773257 [GRCh38]
ChrX:154001532 [GRCh37]
ChrX:Xq28
likely benign
NM_001363.5(DKC1):c.877T>C (p.Leu293=) single nucleotide variant Dyskeratosis congenita [RCV000877518] ChrX:154769272 [GRCh38]
ChrX:153997547 [GRCh37]
ChrX:Xq28
likely benign
NM_001363.5(DKC1):c.1210C>G (p.Pro404Ala) single nucleotide variant Dyskeratosis congenita [RCV001242033] ChrX:154774656 [GRCh38]
ChrX:154002931 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.884C>T (p.Ser295Phe) single nucleotide variant Dyskeratosis congenita [RCV001244338] ChrX:154769279 [GRCh38]
ChrX:153997554 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.629A>G (p.Glu210Gly) single nucleotide variant Dyskeratosis congenita [RCV001218670] ChrX:154767371 [GRCh38]
ChrX:153995646 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.494G>T (p.Gly165Val) single nucleotide variant Dyskeratosis congenita [RCV001242372] ChrX:154767042 [GRCh38]
ChrX:153995317 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.1276G>C (p.Glu426Gln) single nucleotide variant Dyskeratosis congenita [RCV001245403] ChrX:154775211 [GRCh38]
ChrX:154003486 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.1036+6_1036+7del microsatellite Dyskeratosis congenita [RCV001224331] ChrX:154770883..154770884 [GRCh38]
ChrX:153999158..153999159 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.191T>G (p.Val64Gly) single nucleotide variant Dyskeratosis congenita [RCV001209989] ChrX:154765926 [GRCh38]
ChrX:153994201 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.21T>A (p.Ile7=) single nucleotide variant not provided [RCV000933846] ChrX:154764903 [GRCh38]
ChrX:153993178 [GRCh37]
ChrX:Xq28
likely benign
NM_001363.5(DKC1):c.1346G>A (p.Arg449Gln) single nucleotide variant Inherited Immunodeficiency Diseases [RCV001027568] ChrX:154776194 [GRCh38]
ChrX:154004469 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.42GAA[1] (p.Lys17del) microsatellite Dyskeratosis congenita [RCV001233988] ChrX:154764922..154764924 [GRCh38]
ChrX:153993197..153993199 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.1195G>C (p.Asp399His) single nucleotide variant Dyskeratosis congenita, X-linked [RCV001172399] ChrX:154774641 [GRCh38]
ChrX:154002916 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_001363.5(DKC1):c.1457G>A (p.Gly486Glu) single nucleotide variant Dyskeratosis congenita [RCV001233511] ChrX:154776305 [GRCh38]
ChrX:154004580 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.1349A>T (p.Glu450Val) single nucleotide variant Dyskeratosis congenita [RCV001234189] ChrX:154776197 [GRCh38]
ChrX:154004472 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.1334C>T (p.Ala445Val) single nucleotide variant Dyskeratosis congenita [RCV001064678] ChrX:154775269 [GRCh38]
ChrX:154003544 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.1352G>A (p.Ser451Asn) single nucleotide variant Dyskeratosis congenita [RCV001211636] ChrX:154776200 [GRCh38]
ChrX:154004475 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.64T>G (p.Leu22Val) single nucleotide variant Dyskeratosis congenita [RCV001041206] ChrX:154764946 [GRCh38]
ChrX:153993221 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.640+3G>A single nucleotide variant Dyskeratosis congenita [RCV001205000] ChrX:154767385 [GRCh38]
ChrX:153995660 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
NM_001363.5(DKC1):c.41A>G (p.Lys14Arg) single nucleotide variant Dyskeratosis congenita [RCV001313757] ChrX:154764923 [GRCh38]
ChrX:153993198 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.1481G>A (p.Ser494Asn) single nucleotide variant Dyskeratosis congenita [RCV001319469] ChrX:154776803 [GRCh38]
ChrX:154005078 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001363.5(DKC1):c.568G>A (p.Val190Ile) single nucleotide variant Dyskeratosis congenita [RCV001301810] ChrX:154767310 [GRCh38]
ChrX:153995585 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.84C>T (p.Ala28=) single nucleotide variant Dyskeratosis congenita [RCV001326733] ChrX:154764966 [GRCh38]
ChrX:153993241 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.487A>G (p.Ile163Val) single nucleotide variant Dyskeratosis congenita [RCV001315023] ChrX:154767035 [GRCh38]
ChrX:153995310 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.1471G>A (p.Asp491Asn) single nucleotide variant Dyskeratosis congenita [RCV001308200] ChrX:154776319 [GRCh38]
ChrX:154004594 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.1373C>G (p.Thr458Ser) single nucleotide variant Dyskeratosis congenita [RCV001295032] ChrX:154776221 [GRCh38]
ChrX:154004496 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.979A>G (p.Ile327Val) single nucleotide variant Dyskeratosis congenita [RCV001322636] ChrX:154770822 [GRCh38]
ChrX:153999097 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.484G>A (p.Ala162Thr) single nucleotide variant Dyskeratosis congenita [RCV001351935] ChrX:154767032 [GRCh38]
ChrX:153995307 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001363.5(DKC1):c.985G>A (p.Val329Ile) single nucleotide variant Dyskeratosis congenita [RCV001303936] ChrX:154770828 [GRCh38]
ChrX:153999103 [GRCh37]
ChrX:Xq28
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2890 AgrOrtholog
COSMIC DKC1 COSMIC
Ensembl Genes ENSG00000130826 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000358563 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000389304 UniProtKB/TrEMBL
  ENSP00000395693 UniProtKB/TrEMBL
  ENSP00000400542 UniProtKB/TrEMBL
  ENSP00000407253 UniProtKB/TrEMBL
  ENSP00000407325 UniProtKB/TrEMBL
  ENSP00000478387 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000369550 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000412124 UniProtKB/TrEMBL
  ENST00000413910 UniProtKB/TrEMBL
  ENST00000426673 UniProtKB/TrEMBL
  ENST00000437719 UniProtKB/TrEMBL
  ENST00000452771 UniProtKB/TrEMBL
  ENST00000620277 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.130.10 UniProtKB/TrEMBL
GTEx ENSG00000130826 GTEx
HGNC ID HGNC:2890 ENTREZGENE
Human Proteome Map DKC1 Human Proteome Map
InterPro Dyskerin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PsdUridine_synth_cat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PsdUridine_synth_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PUA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PUA-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PUA_sf UniProtKB/TrEMBL
  tRNA_PsdUridine_synth_B_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TruB_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Uncharacterised_CHP00451 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1736 UniProtKB/Swiss-Prot
NCBI Gene 1736 ENTREZGENE
OMIM 300126 OMIM
  305000 OMIM
PANTHER PTHR23127 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DKCLD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PUA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TruB_C_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TruB_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27344 PharmGKB
PROSITE PUA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DKCLD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PUA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55120 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF88697 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs CBF5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  unchar_dom_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9IYT0_HUMAN UniProtKB/TrEMBL
  DKC1_HUMAN UniProtKB/Swiss-Prot
  H7BZF2_HUMAN UniProtKB/TrEMBL
  H7C0M1_HUMAN UniProtKB/TrEMBL
  H7C2Q2_HUMAN UniProtKB/TrEMBL
  H7C2Q9_HUMAN UniProtKB/TrEMBL
  O60832 ENTREZGENE
  O95940_HUMAN UniProtKB/TrEMBL
UniProt Secondary F5BSB3 UniProtKB/Swiss-Prot
  O43845 UniProtKB/Swiss-Prot
  Q96G67 UniProtKB/Swiss-Prot
  Q9Y505 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 DKC1  dyskerin pseudouridine synthase 1    dyskeratosis congenita 1, dyskerin  Symbol and/or name change 5135510 APPROVED
2011-08-16 DKC1  dyskeratosis congenita 1, dyskerin  DKC1  dyskeratosis congenita 1, dyskerin  Symbol and/or name change 5135510 APPROVED