CILK1 (ciliogenesis associated kinase 1) - Rat Genome Database

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Gene: CILK1 (ciliogenesis associated kinase 1) Homo sapiens
Analyze
Symbol: CILK1
Name: ciliogenesis associated kinase 1
RGD ID: 1345110
HGNC Page HGNC:21219
Description: Enables ATP binding activity; magnesium ion binding activity; and protein serine/threonine kinase activity. Involved in cilium assembly; intracellular signal transduction; and protein phosphorylation. Located in ciliary tip and nucleus. Implicated in endocrine-cerebro-osteodysplasia syndrome and juvenile myoclonic epilepsy 10.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ECO; EJM10; hICK; iciliogenesis associated kinase 1; ICK; intestinal cell (MAK-like) kinase; intestinal cell kinase; KIAA0936; laryngeal cancer kinase 2; LCK2; MAK-related kinase; MGC46090; MRK; serine/threonine protein kinase; serine/threonine-protein kinase ICK
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38653,001,303 - 53,061,824 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl653,001,279 - 53,061,824 (-)EnsemblGRCh38hg38GRCh38
GRCh37652,866,101 - 52,926,622 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36652,974,057 - 53,034,559 (-)NCBINCBI36Build 36hg18NCBI36
Build 34652,974,056 - 53,034,549NCBI
Celera654,527,872 - 54,588,397 (-)NCBICelera
Cytogenetic Map6p12.1NCBI
HuRef652,697,571 - 52,758,090 (-)NCBIHuRef
CHM1_1652,867,865 - 52,928,390 (-)NCBICHM1_1
T2T-CHM13v2.0652,840,881 - 52,901,428 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component
cell projection  (IEA)
ciliary basal body  (IEA,ISS)
ciliary base  (IEA,ISS)
ciliary tip  (IEA,IMP)
cilium  (IBA,IEA,ISS)
cytoplasm  (IBA,IEA)
cytoskeleton  (IEA)
cytosol  (IEA)
nucleus  (IBA,IDA,IEA,ISS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormality of eye movement  (IAGP)
Abnormality of the mouth  (IAGP)
Absent septum pellucidum  (IAGP)
Adrenal hypoplasia  (IAGP)
Agenesis of corpus callosum  (IAGP)
Aggressive behavior  (IAGP)
Ambiguous genitalia  (IAGP)
Ankyloblepharon  (IAGP)
Antenatal onset  (IAGP)
Aplasia of the olfactory bulb  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Barrel-shaped chest  (IAGP)
Bilateral cleft lip  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bowed forearm bones  (IAGP)
Brachydactyly  (IAGP)
Childhood onset  (IAGP)
Cryptorchidism  (IAGP)
Deeply set eye  (IAGP)
Depressed nasal tip  (IAGP)
Dolichocephaly  (IAGP)
Dysplastic corpus callosum  (IAGP)
EEG with polyspike wave complexes  (IAGP)
Enlarged kidney  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Fibular bowing  (IAGP)
Focal polymicrogyria  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Generalized-onset seizure  (IAGP)
Hitchhiker thumb  (IAGP)
Holoprosencephaly  (IAGP)
Hydrocephalus  (IAGP)
Hyperechogenic kidneys  (IAGP)
Hypoplasia of the epiglottis  (IAGP)
Hypospadias  (IAGP)
Hypotelorism  (IAGP)
Intellectual disability  (IAGP)
Juvenile onset  (IAGP)
Laryngeal hypoplasia  (IAGP)
Low-set ears  (IAGP)
Median cleft palate  (IAGP)
Median cleft upper lip  (IAGP)
Micrognathia  (IAGP)
Micromelia  (IAGP)
Microphallus  (IAGP)
Microphthalmia  (IAGP)
Midface retrusion  (IAGP)
Morning myoclonic jerks  (IAGP)
Narrow chest  (IAGP)
Natal tooth  (IAGP)
Neonatal onset  (IAGP)
Photosensitive tonic-clonic seizure  (IAGP)
Polyhydramnios  (IAGP)
Postaxial polydactyly  (IAGP)
Preaxial polydactyly  (IAGP)
Sandal gap  (IAGP)
Sex reversal  (IAGP)
Single transverse palmar crease  (IAGP)
Small scrotum  (IAGP)
Status epilepticus  (IAGP)
Syndactyly  (IAGP)
Talipes equinovarus  (IAGP)
Thick upper lip vermilion  (IAGP)
Tibial bowing  (IAGP)
Typified by incomplete penetrance  (IAGP)
Ulnar deviation of the hand  (IAGP)
Ventriculomegaly  (IAGP)
Wide intermamillary distance  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8626561   PMID:10231032   PMID:10699974   PMID:12103360   PMID:12477932   PMID:14574404   PMID:15231748   PMID:15489334   PMID:15988018   PMID:16344560   PMID:16954377   PMID:18029348  
PMID:19185282   PMID:19240061   PMID:19696144   PMID:20459822   PMID:21244100   PMID:21832049   PMID:21873635   PMID:22356909   PMID:22761715   PMID:22939624   PMID:23383273   PMID:23602568  
PMID:23743448   PMID:24104479   PMID:24244486   PMID:24797473   PMID:25184386   PMID:26186194   PMID:27173435   PMID:27466187   PMID:27503909   PMID:28514442   PMID:28611215   PMID:28718761  
PMID:29539279   PMID:29845934   PMID:30021884   PMID:31277411   PMID:31506943   PMID:32178256   PMID:32393512   PMID:32707033   PMID:32732286   PMID:33961781   PMID:34535262   PMID:35384245  
PMID:35609210   PMID:36063999   PMID:37665596   PMID:38725848  


Genomics

Comparative Map Data
CILK1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38653,001,303 - 53,061,824 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl653,001,279 - 53,061,824 (-)EnsemblGRCh38hg38GRCh38
GRCh37652,866,101 - 52,926,622 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36652,974,057 - 53,034,559 (-)NCBINCBI36Build 36hg18NCBI36
Build 34652,974,056 - 53,034,549NCBI
Celera654,527,872 - 54,588,397 (-)NCBICelera
Cytogenetic Map6p12.1NCBI
HuRef652,697,571 - 52,758,090 (-)NCBIHuRef
CHM1_1652,867,865 - 52,928,390 (-)NCBICHM1_1
T2T-CHM13v2.0652,840,881 - 52,901,428 (-)NCBIT2T-CHM13v2.0
Cilk1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39978,016,425 - 78,079,396 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl978,016,474 - 78,079,389 (+)EnsemblGRCm39 Ensembl
GRCm38978,109,080 - 78,172,114 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl978,109,192 - 78,172,107 (+)EnsemblGRCm38mm10GRCm38
MGSCv37977,956,999 - 78,019,917 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36977,899,093 - 77,953,626 (+)NCBIMGSCv36mm8
Celera975,286,395 - 75,349,194 (+)NCBICelera
Cytogenetic Map9E1NCBI
cM Map943.56NCBI
Cilk1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8887,868,294 - 87,922,995 (+)NCBIGRCr8
mRatBN7.2878,984,075 - 79,042,695 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl878,984,258 - 79,042,691 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx884,474,767 - 84,530,110 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0882,751,418 - 82,806,761 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0880,574,141 - 80,629,484 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0885,413,998 - 85,473,374 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl885,413,537 - 85,472,694 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0884,982,701 - 85,037,684 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4883,086,346 - 83,140,977 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1883,105,399 - 83,160,031 (+)NCBI
Celera878,732,894 - 78,787,000 (+)NCBICelera
Cytogenetic Map8q31NCBI
Cilk1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554113,019,525 - 3,068,090 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554112,997,726 - 3,065,106 (+)NCBIChiLan1.0ChiLan1.0
CILK1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2567,472,436 - 67,512,442 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1663,348,948 - 63,388,827 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0652,556,272 - 52,617,199 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1654,198,594 - 54,255,449 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl654,198,594 - 54,255,435 (-)Ensemblpanpan1.1panPan2
CILK1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11220,453,322 - 20,511,463 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1220,450,834 - 20,511,673 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1220,347,814 - 20,405,500 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01220,950,443 - 21,008,297 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1220,952,122 - 21,008,325 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11220,455,977 - 20,513,492 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01220,560,568 - 20,618,196 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01220,698,567 - 20,755,529 (-)NCBIUU_Cfam_GSD_1.0
Cilk1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494656,090,665 - 56,129,505 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364767,813,064 - 7,869,545 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364767,830,714 - 7,869,533 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CILK1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl746,658,681 - 46,723,585 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1746,658,671 - 46,723,286 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.27134,404,039 - 134,465,673 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CILK1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11719,509,955 - 19,572,011 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1719,510,106 - 19,572,002 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604452,849,509 - 52,911,320 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cilk1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624850218,958 - 278,199 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624850219,042 - 286,756 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CILK1
213 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014920.5(CILK1):c.785G>A (p.Arg262Lys) single nucleotide variant not provided [RCV000729048]|not specified [RCV004609509] Chr6:53016129 [GRCh38]
Chr6:52880927 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.815G>A (p.Arg272Gln) single nucleotide variant Endocrine-cerebro-osteodysplasia syndrome [RCV000000672] Chr6:53016099 [GRCh38]
Chr6:52880897 [GRCh37]
Chr6:6p12.1		 pathogenic
NM_016513.4(ICK):c.358+3979C>T single nucleotide variant Lung cancer [RCV000096954] Chr6:53027086 [GRCh38]
Chr6:52891884 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.555G>A (p.Ala185=) single nucleotide variant not provided [RCV000897749]|not specified [RCV000180339] Chr6:53018438 [GRCh38]
Chr6:52883236 [GRCh37]
Chr6:6p12.1		 benign|likely benign
NM_014920.5(CILK1):c.831+5del deletion CILK1-related disorder [RCV003982932]|not provided [RCV000513685]|not specified [RCV000180654] Chr6:53016078 [GRCh38]
Chr6:52880876 [GRCh37]
Chr6:6p12.1		 benign|likely benign
GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1 copy number loss See cases [RCV000134922] Chr6:50971182..57432788 [GRCh38]
Chr6:50938895..57297586 [GRCh37]
Chr6:51046854..57405545 [NCBI36]
Chr6:6p12.3-11.2		 pathogenic
GRCh38/hg38 6p12.3-12.1(chr6:51093754-53859634)x4 copy number gain See cases [RCV000137095] Chr6:51093754..53859634 [GRCh38]
Chr6:51061467..53724432 [GRCh37]
Chr6:51169426..53832391 [NCBI36]
Chr6:6p12.3-12.1		 pathogenic
GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1 copy number loss See cases [RCV000138349] Chr6:45681671..54212044 [GRCh38]
Chr6:45649408..54076842 [GRCh37]
Chr6:45757386..54184801 [NCBI36]
Chr6:6p21.1-12.1		 pathogenic|uncertain significance
NM_014920.5(CILK1):c.914A>C (p.Lys305Thr) single nucleotide variant Epilepsy, juvenile myoclonic, susceptibility to, 10 [RCV000616862]|not provided [RCV001326104] Chr6:53013900 [GRCh38]
Chr6:52878698 [GRCh37]
Chr6:6p12.1		 risk factor|uncertain significance
NM_014920.5(CILK1):c.534C>T (p.Ser178=) single nucleotide variant CILK1-related disorder [RCV003930090]|not provided [RCV001812769]|not specified [RCV000306014] Chr6:53018459 [GRCh38]
Chr6:52883257 [GRCh37]
Chr6:6p12.1		 benign|likely benign
NM_014920.5(CILK1):c.816A>T (p.Arg272=) single nucleotide variant not provided [RCV000296924] Chr6:53016098 [GRCh38]
Chr6:52880896 [GRCh37]
Chr6:6p12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_014920.5(CILK1):c.1419T>C (p.Tyr473=) single nucleotide variant not provided [RCV001510227]|not specified [RCV000265059] Chr6:53011842 [GRCh38]
Chr6:52876640 [GRCh37]
Chr6:6p12.1		 benign|likely benign
NM_014920.5(CILK1):c.358G>T (p.Gly120Cys) single nucleotide variant Endocrine-cerebro-osteodysplasia syndrome [RCV000766214] Chr6:53031065 [GRCh38]
Chr6:52895863 [GRCh37]
Chr6:6p12.1		 pathogenic
NM_014920.5(CILK1):c.1894C>T (p.Arg632Ter) single nucleotide variant Epilepsy, juvenile myoclonic, susceptibility to, 10 [RCV000600126]|not provided [RCV002531731] Chr6:53005154 [GRCh38]
Chr6:52869952 [GRCh37]
Chr6:6p12.1		 risk factor|uncertain significance
NM_014920.5(CILK1):c.1702A>G (p.Met568Val) single nucleotide variant CILK1-related disorder [RCV003980114]|not provided [RCV000591923]|not specified [RCV004024854] Chr6:53006357 [GRCh38]
Chr6:52871155 [GRCh37]
Chr6:6p12.1		 likely benign|uncertain significance
NM_014920.5(CILK1):c.1687G>T (p.Glu563Ter) single nucleotide variant not provided [RCV000592948]|not specified [RCV004701688] Chr6:53006372 [GRCh38]
Chr6:52871170 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1802A>G (p.Gln601Arg) single nucleotide variant not provided [RCV000593025]|not specified [RCV004024788] Chr6:53005246 [GRCh38]
Chr6:52870044 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1412C>T (p.Thr471Met) single nucleotide variant not provided [RCV000593543]|not specified [RCV004024753] Chr6:53011849 [GRCh38]
Chr6:52876647 [GRCh37]
Chr6:6p12.1		 likely benign|uncertain significance
NM_014920.5(CILK1):c.1106_1117del (p.Pro369_Leu372del) deletion CILK1-related disorder [RCV003980374]|Endocrine-cerebro-osteodysplasia syndrome [RCV002493334]|not provided [RCV000886114]|not specified [RCV000731243] Chr6:53013697..53013708 [GRCh38]
Chr6:52878495..52878506 [GRCh37]
Chr6:6p12.1		 benign|likely benign
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_014920.5(CILK1):c.658A>G (p.Lys220Glu) single nucleotide variant Epilepsy, juvenile myoclonic, susceptibility to, 10 [RCV000605373] Chr6:53018335 [GRCh38]
Chr6:52883133 [GRCh37]
Chr6:6p12.1		 risk factor
NM_014920.5(CILK1):c.1843G>A (p.Ala615Thr) single nucleotide variant Epilepsy, juvenile myoclonic, susceptibility to, 10 [RCV000611410]|not provided [RCV002232752] Chr6:53005205 [GRCh38]
Chr6:52870003 [GRCh37]
Chr6:6p12.1		 risk factor|uncertain significance
NM_014920.5(CILK1):c.238G>A (p.Glu80Lys) single nucleotide variant Short rib-polydactyly syndrome [RCV000755167] Chr6:53032573 [GRCh38]
Chr6:52897371 [GRCh37]
Chr6:6p12.1		 likely pathogenic
NM_014920.5(CILK1):c.765T>G (p.Ser255Arg) single nucleotide variant not provided [RCV001571019] Chr6:53016149 [GRCh38]
Chr6:52880947 [GRCh37]
Chr6:6p12.1		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_014920.5(CILK1):c.156+50T>C single nucleotide variant not provided [RCV001535165] Chr6:53037889 [GRCh38]
Chr6:52902687 [GRCh37]
Chr6:6p12.1		 benign
NM_014920.5(CILK1):c.278+205T>A single nucleotide variant not provided [RCV001709075] Chr6:53032328 [GRCh38]
Chr6:52897126 [GRCh37]
Chr6:6p12.1		 benign
NM_014920.5(CILK1):c.814C>T (p.Arg272Ter) single nucleotide variant not provided [RCV000998623] Chr6:53016100 [GRCh38]
Chr6:52880898 [GRCh37]
Chr6:6p12.1		 likely pathogenic
NM_014920.5(CILK1):c.690T>C (p.Leu230=) single nucleotide variant not provided [RCV000970838] Chr6:53016224 [GRCh38]
Chr6:52881022 [GRCh37]
Chr6:6p12.1		 benign
NM_014920.5(CILK1):c.1167C>G (p.Gly389=) single nucleotide variant not provided [RCV000902488] Chr6:53012213 [GRCh38]
Chr6:52877011 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1608C>T (p.Ser536=) single nucleotide variant not provided [RCV000903750] Chr6:53009452 [GRCh38]
Chr6:52874250 [GRCh37]
Chr6:6p12.1		 benign
NM_014920.5(CILK1):c.1416A>T (p.Ser472=) single nucleotide variant not provided [RCV000899925] Chr6:53011845 [GRCh38]
Chr6:52876643 [GRCh37]
Chr6:6p12.1		 likely benign
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1		 pathogenic
NM_014920.5(CILK1):c.1448C>G (p.Ser483Cys) single nucleotide variant CILK1-related disorder [RCV003935951]|not provided [RCV000961736] Chr6:53011813 [GRCh38]
Chr6:52876611 [GRCh37]
Chr6:6p12.1		 benign|likely benign
NM_014920.5(CILK1):c.1521G>A (p.Ser507=) single nucleotide variant not provided [RCV000880329] Chr6:53009539 [GRCh38]
Chr6:52874337 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.956C>G (p.Pro319Arg) single nucleotide variant Epilepsy, juvenile myoclonic, susceptibility to, 10 [RCV001090121] Chr6:53013858 [GRCh38]
Chr6:52878656 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1344-4T>A single nucleotide variant Congenital ocular coloboma [RCV001391286]|not provided [RCV000998622] Chr6:53011921 [GRCh38]
Chr6:52876719 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.782T>C (p.Leu261Pro) single nucleotide variant not provided [RCV000998624] Chr6:53016132 [GRCh38]
Chr6:52880930 [GRCh37]
Chr6:6p12.1		 uncertain significance
GRCh37/hg19 6p12.2-12.1(chr6:52810337-53016306)x3 copy number gain not provided [RCV001005797] Chr6:52810337..53016306 [GRCh37]
Chr6:6p12.2-12.1		 uncertain significance
NM_014920.5(CILK1):c.964C>G (p.Pro322Ala) single nucleotide variant not specified [RCV001002575] Chr6:53013850 [GRCh38]
Chr6:52878648 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.917G>C (p.Gly306Ala) single nucleotide variant See cases [RCV001199347] Chr6:53013897 [GRCh38]
Chr6:52878695 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.359-13A>G single nucleotide variant not provided [RCV003104733] Chr6:53019372 [GRCh38]
Chr6:52884170 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.101+153C>A single nucleotide variant not provided [RCV001666401] Chr6:53040983 [GRCh38]
Chr6:52905781 [GRCh37]
Chr6:6p12.1		 benign
NM_014920.5(CILK1):c.279-56A>G single nucleotide variant not provided [RCV001640077] Chr6:53031200 [GRCh38]
Chr6:52895998 [GRCh37]
Chr6:6p12.1		 benign
NM_014920.5(CILK1):c.666T>C (p.Thr222=) single nucleotide variant CILK1-related disorder [RCV003968372]|not provided [RCV000909512] Chr6:53016248 [GRCh38]
Chr6:52881046 [GRCh37]
Chr6:6p12.1		 benign|likely benign
NM_014920.5(CILK1):c.304A>C (p.Ile102Leu) single nucleotide variant Congenital ocular coloboma [RCV001391287]|not provided [RCV000998625] Chr6:53031119 [GRCh38]
Chr6:52895917 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.84G>A (p.Glu28=) single nucleotide variant not provided [RCV000912766] Chr6:53041153 [GRCh38]
Chr6:52905951 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1745-219T>G single nucleotide variant not provided [RCV001687875] Chr6:53005522 [GRCh38]
Chr6:52870320 [GRCh37]
Chr6:6p12.1		 benign
NM_014920.5(CILK1):c.102-61A>G single nucleotide variant not provided [RCV001619619] Chr6:53038054 [GRCh38]
Chr6:52902852 [GRCh37]
Chr6:6p12.1		 benign
NM_014920.5(CILK1):c.1745-73C>G single nucleotide variant not provided [RCV001598330] Chr6:53005376 [GRCh38]
Chr6:52870174 [GRCh37]
Chr6:6p12.1		 benign
NM_014920.5(CILK1):c.1153-156T>C single nucleotide variant not provided [RCV001694615] Chr6:53012383 [GRCh38]
Chr6:52877181 [GRCh37]
Chr6:6p12.1		 benign
GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1 copy number loss See cases [RCV001263045] Chr6:48626041..55575545 [GRCh37]
Chr6:6p12.3-12.1		 likely pathogenic
NM_014920.5(CILK1):c.1670C>G (p.Pro557Arg) single nucleotide variant Epilepsy, juvenile myoclonic, susceptibility to, 10 [RCV004799333] Chr6:53006389 [GRCh38]
Chr6:52871187 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.440C>T (p.Ala147Val) single nucleotide variant not provided [RCV001304795] Chr6:53019278 [GRCh38]
Chr6:52884076 [GRCh37]
Chr6:6p12.1		 uncertain significance
GRCh37/hg19 6p12.2-12.1(chr6:52657712-53622715)x3 copy number gain not provided [RCV001258723] Chr6:52657712..53622715 [GRCh37]
Chr6:6p12.2-12.1		 uncertain significance
NM_014920.5(CILK1):c.492-20G>A single nucleotide variant not provided [RCV001812300] Chr6:53018521 [GRCh38]
Chr6:52883319 [GRCh37]
Chr6:6p12.1		 benign
NM_014920.5(CILK1):c.359G>A (p.Gly120Asp) single nucleotide variant not provided [RCV001298262] Chr6:53019359 [GRCh38]
Chr6:52884157 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1058C>T (p.Ala353Val) single nucleotide variant not provided [RCV001810719] Chr6:53013756 [GRCh38]
Chr6:52878554 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.163A>G (p.Lys55Glu) single nucleotide variant not provided [RCV001296648] Chr6:53032648 [GRCh38]
Chr6:52897446 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1019C>T (p.Ala340Val) single nucleotide variant not specified [RCV004610683] Chr6:53013795 [GRCh38]
Chr6:52878593 [GRCh37]
Chr6:6p12.1		 uncertain significance
NC_000006.11:g.(?_51930764)_(52906034_?)del deletion not provided [RCV001346439] Chr6:51930764..52906034 [GRCh37]
Chr6:6p12.2-12.1		 uncertain significance
NM_014920.5(CILK1):c.645G>T (p.Val215=) single nucleotide variant not provided [RCV001810655] Chr6:53018348 [GRCh38]
Chr6:52883146 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.375C>T (p.Asp125=) single nucleotide variant not provided [RCV001504569] Chr6:53019343 [GRCh38]
Chr6:52884141 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1125A>G (p.Pro375=) single nucleotide variant CILK1-related disorder [RCV003921005]|not provided [RCV001474664] Chr6:53013689 [GRCh38]
Chr6:52878487 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1007G>A (p.Arg336Gln) single nucleotide variant not provided [RCV001453783]|not specified [RCV004038527] Chr6:53013807 [GRCh38]
Chr6:52878605 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.884A>G (p.Gln295Arg) single nucleotide variant not provided [RCV001407888]|not specified [RCV004038029] Chr6:53013930 [GRCh38]
Chr6:52878728 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.105G>A (p.Met35Ile) single nucleotide variant Endocrine-cerebro-osteodysplasia syndrome [RCV001533176] Chr6:53037990 [GRCh38]
Chr6:52902788 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.156+46G>A single nucleotide variant not provided [RCV001612801] Chr6:53037893 [GRCh38]
Chr6:52902691 [GRCh37]
Chr6:6p12.1		 benign
NM_014920.5(CILK1):c.1492+190C>T single nucleotide variant not provided [RCV001686569] Chr6:53011579 [GRCh38]
Chr6:52876377 [GRCh37]
Chr6:6p12.1		 benign
NM_014920.5(CILK1):c.180C>T (p.Ala60=) single nucleotide variant not provided [RCV001463770] Chr6:53032631 [GRCh38]
Chr6:52897429 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.958G>A (p.Val320Ile) single nucleotide variant not provided [RCV001512756] Chr6:53013856 [GRCh38]
Chr6:52878654 [GRCh37]
Chr6:6p12.1		 benign
NM_014920.5(CILK1):c.453A>G (p.Arg151=) single nucleotide variant not provided [RCV001483437] Chr6:53019265 [GRCh38]
Chr6:52884063 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.861A>G (p.Gly287=) single nucleotide variant not provided [RCV001398060] Chr6:53013953 [GRCh38]
Chr6:52878751 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.975A>G (p.Pro325=) single nucleotide variant Endocrine-cerebro-osteodysplasia syndrome [RCV001702909]|not provided [RCV001522329] Chr6:53013839 [GRCh38]
Chr6:52878637 [GRCh37]
Chr6:6p12.1		 benign
NM_014920.5(CILK1):c.1398T>C (p.Ser466=) single nucleotide variant not provided [RCV001418713] Chr6:53011863 [GRCh38]
Chr6:52876661 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1703T>C (p.Met568Thr) single nucleotide variant not provided [RCV002238136] Chr6:53006356 [GRCh38]
Chr6:52871154 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1702A>C (p.Met568Leu) single nucleotide variant not provided [RCV002238137] Chr6:53006357 [GRCh38]
Chr6:52871155 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1525C>T (p.Pro509Ser) single nucleotide variant CILK1-related disorder [RCV003926336]|not provided [RCV002238140]|not specified [RCV004047292] Chr6:53009535 [GRCh38]
Chr6:52874333 [GRCh37]
Chr6:6p12.1		 benign|likely benign
NM_014920.5(CILK1):c.1520C>T (p.Ser507Leu) single nucleotide variant not provided [RCV002238141] Chr6:53009540 [GRCh38]
Chr6:52874338 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1457A>C (p.Lys486Thr) single nucleotide variant not provided [RCV002238142] Chr6:53011804 [GRCh38]
Chr6:52876602 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1272G>A (p.Leu424=) single nucleotide variant not provided [RCV002238144] Chr6:53012108 [GRCh38]
Chr6:52876906 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1260C>G (p.Asp420Glu) single nucleotide variant not provided [RCV002238145]|not specified [RCV004047293] Chr6:53012120 [GRCh38]
Chr6:52876918 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1246G>T (p.Asp416Tyr) single nucleotide variant not provided [RCV002238146] Chr6:53012134 [GRCh38]
Chr6:52876932 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1088A>T (p.His363Leu) single nucleotide variant not provided [RCV002238147] Chr6:53013726 [GRCh38]
Chr6:52878524 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1052A>T (p.Tyr351Phe) single nucleotide variant not provided [RCV002238148] Chr6:53013762 [GRCh38]
Chr6:52878560 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.995G>A (p.Arg332Gln) single nucleotide variant not provided [RCV002238152] Chr6:53013819 [GRCh38]
Chr6:52878617 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.868C>T (p.Leu290=) single nucleotide variant not provided [RCV002238153] Chr6:53013946 [GRCh38]
Chr6:52878744 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.839G>A (p.Arg280Gln) single nucleotide variant not provided [RCV002238154] Chr6:53013975 [GRCh38]
Chr6:52878773 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.832-4C>T single nucleotide variant not provided [RCV002238155] Chr6:53013986 [GRCh38]
Chr6:52878784 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.755A>G (p.Asn252Ser) single nucleotide variant not provided [RCV002238158] Chr6:53016159 [GRCh38]
Chr6:52880957 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.358+11C>T single nucleotide variant not provided [RCV002238161] Chr6:53031054 [GRCh38]
Chr6:52895852 [GRCh37]
Chr6:6p12.1		 benign
NM_014920.5(CILK1):c.340G>A (p.Ala114Thr) single nucleotide variant not provided [RCV002238162]|not specified [RCV004897740] Chr6:53031083 [GRCh38]
Chr6:52895881 [GRCh37]
Chr6:6p12.1		 likely benign|uncertain significance
NM_014920.5(CILK1):c.232A>G (p.Ile78Val) single nucleotide variant not provided [RCV002238165] Chr6:53032579 [GRCh38]
Chr6:52897377 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.174C>A (p.Asn58Lys) single nucleotide variant not provided [RCV002238166] Chr6:53032637 [GRCh38]
Chr6:52897435 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.51C>T (p.Ser17=) single nucleotide variant not provided [RCV002238168] Chr6:53041186 [GRCh38]
Chr6:52905984 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.45C>T (p.Tyr15=) single nucleotide variant not provided [RCV002238169] Chr6:53041192 [GRCh38]
Chr6:52905990 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.19A>G (p.Ile7Val) single nucleotide variant not provided [RCV002238170] Chr6:53041218 [GRCh38]
Chr6:52906016 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.652A>G (p.Thr218Ala) single nucleotide variant CILK1-related disorder [RCV003900935]|not provided [RCV003108281] Chr6:53018341 [GRCh38]
Chr6:52883139 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1752C>T (p.Ser584=) single nucleotide variant not provided [RCV002238135] Chr6:53005296 [GRCh38]
Chr6:52870094 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1665T>C (p.Tyr555=) single nucleotide variant not provided [RCV002238138] Chr6:53006394 [GRCh38]
Chr6:52871192 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1577G>A (p.Gly526Glu) single nucleotide variant not provided [RCV002238139]|not specified [RCV004047291] Chr6:53009483 [GRCh38]
Chr6:52874281 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1423C>T (p.Arg475Trp) single nucleotide variant not provided [RCV002238143] Chr6:53011838 [GRCh38]
Chr6:52876636 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1050C>T (p.Pro350=) single nucleotide variant not provided [RCV002238149] Chr6:53013764 [GRCh38]
Chr6:52878562 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1044G>A (p.Thr348=) single nucleotide variant not provided [RCV002238150] Chr6:53013770 [GRCh38]
Chr6:52878568 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1033C>T (p.Leu345=) single nucleotide variant not provided [RCV002238151] Chr6:53013781 [GRCh38]
Chr6:52878579 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.831+3T>G single nucleotide variant not provided [RCV002238156] Chr6:53016080 [GRCh38]
Chr6:52880878 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.791T>C (p.Met264Thr) single nucleotide variant not provided [RCV002238157] Chr6:53016123 [GRCh38]
Chr6:52880921 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.522T>A (p.Ser174=) single nucleotide variant not provided [RCV002238159] Chr6:53018471 [GRCh38]
Chr6:52883269 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.359-3T>A single nucleotide variant not provided [RCV002238160] Chr6:53019362 [GRCh38]
Chr6:52884160 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.339C>T (p.Leu113=) single nucleotide variant CILK1-related disorder [RCV003971201]|not provided [RCV002238163] Chr6:53031084 [GRCh38]
Chr6:52895882 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.318G>C (p.Met106Ile) single nucleotide variant not provided [RCV002238164] Chr6:53031105 [GRCh38]
Chr6:52895903 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.70A>G (p.Ile24Val) single nucleotide variant CILK1-related disorder [RCV003926337]|not provided [RCV002238167]|not specified [RCV004047296] Chr6:53041167 [GRCh38]
Chr6:52905965 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.296A>G (p.Glu99Gly) single nucleotide variant not provided [RCV001767353] Chr6:53031127 [GRCh38]
Chr6:52895925 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.94A>G (p.Ile32Val) single nucleotide variant not provided [RCV001758732] Chr6:53041143 [GRCh38]
Chr6:52905941 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.358+1G>A single nucleotide variant not provided [RCV001771033] Chr6:53031064 [GRCh38]
Chr6:52895862 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.358+12G>A single nucleotide variant not provided [RCV001811718] Chr6:53031053 [GRCh38]
Chr6:52895851 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1782G>A (p.Gly594=) single nucleotide variant not provided [RCV002236553] Chr6:53005266 [GRCh38]
Chr6:52870064 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.720G>T (p.Gln240His) single nucleotide variant not provided [RCV002236558]|not specified [RCV004047294] Chr6:53016194 [GRCh38]
Chr6:52880992 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.478_479dup (p.Ser161fs) duplication not specified [RCV002247083] Chr6:53019238..53019239 [GRCh38]
Chr6:52884036..52884037 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1152G>A (p.Ser384=) single nucleotide variant not provided [RCV002236555] Chr6:53013662 [GRCh38]
Chr6:52878460 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1151C>T (p.Ser384Leu) single nucleotide variant not provided [RCV002236556]|not specified [RCV004897739] Chr6:53013663 [GRCh38]
Chr6:52878461 [GRCh37]
Chr6:6p12.1		 likely benign|uncertain significance
NM_014920.5(CILK1):c.1113G>A (p.Pro371=) single nucleotide variant not provided [RCV002236557] Chr6:53013701 [GRCh38]
Chr6:52878499 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.663+14A>G single nucleotide variant not provided [RCV002236559] Chr6:53018316 [GRCh38]
Chr6:52883114 [GRCh37]
Chr6:6p12.1		 likely benign
GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3 copy number gain not provided [RCV002221457] Chr6:43636308..64947206 [GRCh37]
Chr6:6p21.1-q12		 likely pathogenic
NM_014920.5(CILK1):c.1856A>C (p.His619Pro) single nucleotide variant not specified [RCV004783593] Chr6:53005192 [GRCh38]
Chr6:52869990 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.807C>A (p.Pro269=) single nucleotide variant not provided [RCV003121974] Chr6:53016107 [GRCh38]
Chr6:52880905 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1501A>G (p.Ile501Val) single nucleotide variant not provided [RCV003118801] Chr6:53009559 [GRCh38]
Chr6:52874357 [GRCh37]
Chr6:6p12.1		 uncertain significance
NC_000006.11:g.(?_52869947)_(52906034_?)dup duplication not provided [RCV003119746] Chr6:52869947..52906034 [GRCh37]
Chr6:6p12.2-12.1		 uncertain significance
NM_014920.5(CILK1):c.1848G>C (p.Gln616His) single nucleotide variant not provided [RCV002236552] Chr6:53005200 [GRCh38]
Chr6:52869998 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1153-14G>A single nucleotide variant not provided [RCV002236554] Chr6:53012241 [GRCh38]
Chr6:52877039 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.549C>T (p.Val183=) single nucleotide variant not provided [RCV002236560] Chr6:53018444 [GRCh38]
Chr6:52883242 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.527A>G (p.Asn176Ser) single nucleotide variant not provided [RCV002236561]|not specified [RCV004047295] Chr6:53018466 [GRCh38]
Chr6:52883264 [GRCh37]
Chr6:6p12.1		 likely benign|uncertain significance
NM_014920.5(CILK1):c.1870T>G (p.Trp624Gly) single nucleotide variant not provided [RCV002236551] Chr6:53005178 [GRCh38]
Chr6:52869976 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1572G>C (p.Leu524Phe) single nucleotide variant not provided [RCV003149268] Chr6:53009488 [GRCh38]
Chr6:52874286 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.760A>G (p.Ser254Gly) single nucleotide variant Epilepsy, juvenile myoclonic, susceptibility to, 10 [RCV002267685] Chr6:53016154 [GRCh38]
Chr6:52880952 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1434G>A (p.Thr478=) single nucleotide variant Epilepsy, juvenile myoclonic, susceptibility to, 10 [RCV002266817]|not provided [RCV003096051] Chr6:53011827 [GRCh38]
Chr6:52876625 [GRCh37]
Chr6:6p12.1		 likely benign|uncertain significance
NM_014920.5(CILK1):c.1067C>T (p.Ser356Phe) single nucleotide variant not specified [RCV004302767] Chr6:53013747 [GRCh38]
Chr6:52878545 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.102-7C>G single nucleotide variant not provided [RCV002616264] Chr6:53038000 [GRCh38]
Chr6:52902798 [GRCh37]
Chr6:6p12.1		 benign
NM_014920.5(CILK1):c.664-18A>G single nucleotide variant not provided [RCV002686392] Chr6:53016268 [GRCh38]
Chr6:52881066 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1531A>G (p.Lys511Glu) single nucleotide variant not provided [RCV002975230] Chr6:53009529 [GRCh38]
Chr6:52874327 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1043C>T (p.Thr348Met) single nucleotide variant not provided [RCV002996230] Chr6:53013771 [GRCh38]
Chr6:52878569 [GRCh37]
Chr6:6p12.1		 benign
NM_014920.5(CILK1):c.1538T>C (p.Phe513Ser) single nucleotide variant not provided [RCV002996326] Chr6:53009522 [GRCh38]
Chr6:52874320 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1344-3C>A single nucleotide variant not provided [RCV003053926] Chr6:53011920 [GRCh38]
Chr6:52876718 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.279-9C>T single nucleotide variant not provided [RCV002572149] Chr6:53031153 [GRCh38]
Chr6:52895951 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.443G>A (p.Arg148Gln) single nucleotide variant not provided [RCV002696331] Chr6:53019275 [GRCh38]
Chr6:52884073 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.984G>A (p.Lys328=) single nucleotide variant not provided [RCV002871460] Chr6:53013830 [GRCh38]
Chr6:52878628 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.207C>T (p.Ile69=) single nucleotide variant not provided [RCV002909329] Chr6:53032604 [GRCh38]
Chr6:52897402 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.74A>C (p.Glu25Ala) single nucleotide variant not provided [RCV002820353] Chr6:53041163 [GRCh38]
Chr6:52905961 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1193A>G (p.Lys398Arg) single nucleotide variant not provided [RCV002847630] Chr6:53012187 [GRCh38]
Chr6:52876985 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1885G>A (p.Ala629Thr) single nucleotide variant not provided [RCV002620339]|not specified [RCV004614377] Chr6:53005163 [GRCh38]
Chr6:52869961 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1426C>T (p.Arg476Ter) single nucleotide variant not provided [RCV003018690] Chr6:53011835 [GRCh38]
Chr6:52876633 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.751C>T (p.Pro251Ser) single nucleotide variant not provided [RCV002958730] Chr6:53016163 [GRCh38]
Chr6:52880961 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.711T>C (p.Arg237=) single nucleotide variant not provided [RCV002985553] Chr6:53016203 [GRCh38]
Chr6:52881001 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1745-11T>C single nucleotide variant not provided [RCV002711511] Chr6:53005314 [GRCh38]
Chr6:52870112 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1135A>G (p.Asn379Asp) single nucleotide variant not provided [RCV002700399] Chr6:53013679 [GRCh38]
Chr6:52878477 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.191A>G (p.Lys64Arg) single nucleotide variant not provided [RCV002572413] Chr6:53032620 [GRCh38]
Chr6:52897418 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.470C>T (p.Thr157Ile) single nucleotide variant not provided [RCV002918462] Chr6:53019248 [GRCh38]
Chr6:52884046 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.30C>T (p.Leu10=) single nucleotide variant not provided [RCV002985534] Chr6:53041207 [GRCh38]
Chr6:52906005 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.156+5A>G single nucleotide variant not provided [RCV002716075] Chr6:53037934 [GRCh38]
Chr6:52902732 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.9A>T (p.Arg3Ser) single nucleotide variant not provided [RCV002602857] Chr6:53041228 [GRCh38]
Chr6:52906026 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.487A>C (p.Arg163=) single nucleotide variant not provided [RCV002582124] Chr6:53019231 [GRCh38]
Chr6:52884029 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1480C>T (p.Arg494Ter) single nucleotide variant not provided [RCV002630921] Chr6:53011781 [GRCh38]
Chr6:52876579 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.237C>T (p.Phe79=) single nucleotide variant not provided [RCV002770167] Chr6:53032574 [GRCh38]
Chr6:52897372 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.974_975inv (p.Pro325Leu) inversion not provided [RCV002649368] Chr6:53013839..53013840 [GRCh38]
Chr6:52878637..52878638 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.101+2T>C single nucleotide variant not provided [RCV002645847] Chr6:53041134 [GRCh38]
Chr6:52905932 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1493-5A>C single nucleotide variant not provided [RCV002810960] Chr6:53009572 [GRCh38]
Chr6:52874370 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.920T>C (p.Ile307Thr) single nucleotide variant not provided [RCV002900521] Chr6:53013894 [GRCh38]
Chr6:52878692 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.567C>T (p.Ile189=) single nucleotide variant not provided [RCV002580746] Chr6:53018426 [GRCh38]
Chr6:52883224 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1622-7A>C single nucleotide variant not provided [RCV003049607] Chr6:53006444 [GRCh38]
Chr6:52871242 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.452G>A (p.Arg151Gln) single nucleotide variant not provided [RCV002609697] Chr6:53019266 [GRCh38]
Chr6:52884064 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1280G>A (p.Ser427Asn) single nucleotide variant not provided [RCV003073511]|not specified [RCV004614353] Chr6:53012100 [GRCh38]
Chr6:52876898 [GRCh37]
Chr6:6p12.1		 likely benign|uncertain significance
NM_014920.5(CILK1):c.261C>T (p.Tyr87=) single nucleotide variant not provided [RCV002611007] Chr6:53032550 [GRCh38]
Chr6:52897348 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1286C>G (p.Ser429Cys) single nucleotide variant not provided [RCV003092803] Chr6:53012094 [GRCh38]
Chr6:52876892 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.402G>A (p.Met134Ile) single nucleotide variant not specified [RCV004280909] Chr6:53019316 [GRCh38]
Chr6:52884114 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1142A>C (p.His381Pro) single nucleotide variant not specified [RCV004282978] Chr6:53013672 [GRCh38]
Chr6:52878470 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1636A>T (p.Thr546Ser) single nucleotide variant not specified [RCV003994542] Chr6:53006423 [GRCh38]
Chr6:52871221 [GRCh37]
Chr6:6p12.1		 uncertain significance
GRCh37/hg19 6p12.3-12.1(chr6:50181657-55538355)x1 copy number loss not provided [RCV003485511] Chr6:50181657..55538355 [GRCh37]
Chr6:6p12.3-12.1		 pathogenic
NM_014920.5(CILK1):c.1830A>G (p.Pro610=) single nucleotide variant not provided [RCV003874706] Chr6:53005218 [GRCh38]
Chr6:52870016 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1344G>T (p.Arg448Ser) single nucleotide variant not specified [RCV003488824] Chr6:53011917 [GRCh38]
Chr6:52876715 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.344T>G (p.Phe115Cys) single nucleotide variant CILK1-related disorder [RCV003400347] Chr6:53031079 [GRCh38]
Chr6:52895877 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.145C>T (p.Arg49Trp) single nucleotide variant CILK1-related disorder [RCV003420736] Chr6:53037950 [GRCh38]
Chr6:52902748 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.791T>A (p.Met264Lys) single nucleotide variant not provided [RCV003436588] Chr6:53016123 [GRCh38]
Chr6:52880921 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.657A>T (p.Pro219=) single nucleotide variant not provided [RCV003830884] Chr6:53018336 [GRCh38]
Chr6:52883134 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1399G>T (p.Ala467Ser) single nucleotide variant not provided [RCV003696088] Chr6:53011862 [GRCh38]
Chr6:52876660 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.157-19T>C single nucleotide variant not provided [RCV003830159] Chr6:53032673 [GRCh38]
Chr6:52897471 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1153-15C>T single nucleotide variant not provided [RCV003881104] Chr6:53012242 [GRCh38]
Chr6:52877040 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1789T>A (p.Phe597Ile) single nucleotide variant not specified [RCV003995175] Chr6:53005259 [GRCh38]
Chr6:52870057 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.723T>C (p.Cys241=) single nucleotide variant not provided [RCV003548688] Chr6:53016191 [GRCh38]
Chr6:52880989 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.358+12G>T single nucleotide variant not provided [RCV003549882] Chr6:53031053 [GRCh38]
Chr6:52895851 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1799C>G (p.Thr600Ser) single nucleotide variant not provided [RCV003559103] Chr6:53005249 [GRCh38]
Chr6:52870047 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1485C>T (p.Tyr495=) single nucleotide variant not provided [RCV003664601] Chr6:53011776 [GRCh38]
Chr6:52876574 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.6T>C (p.Asn2=) single nucleotide variant not provided [RCV003820039] Chr6:53041231 [GRCh38]
Chr6:52906029 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1380T>C (p.Pro460=) single nucleotide variant not provided [RCV003710970] Chr6:53011881 [GRCh38]
Chr6:52876679 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1851A>G (p.Pro617=) single nucleotide variant not provided [RCV003709940] Chr6:53005197 [GRCh38]
Chr6:52869995 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1493-6_1493-5insTGCATTTTAAA insertion not provided [RCV003847502] Chr6:53009572..53009573 [GRCh38]
Chr6:52874370..52874371 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.664-10C>G single nucleotide variant not provided [RCV003871354] Chr6:53016260 [GRCh38]
Chr6:52881058 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1493-7C>T single nucleotide variant not provided [RCV003847503] Chr6:53009574 [GRCh38]
Chr6:52874372 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.795T>A (p.Leu265=) single nucleotide variant not provided [RCV003818744] Chr6:53016119 [GRCh38]
Chr6:52880917 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1186G>C (p.Glu396Gln) single nucleotide variant not specified [RCV004441858] Chr6:53012194 [GRCh38]
Chr6:52876992 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1693G>A (p.Gly565Ser) single nucleotide variant not specified [RCV004441862] Chr6:53006366 [GRCh38]
Chr6:52871164 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1892G>C (p.Arg631Pro) single nucleotide variant not specified [RCV004441863] Chr6:53005156 [GRCh38]
Chr6:52869954 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1643C>G (p.Ser548Cys) single nucleotide variant not specified [RCV004441860] Chr6:53006416 [GRCh38]
Chr6:52871214 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.337C>T (p.Leu113Phe) single nucleotide variant not specified [RCV004441864] Chr6:53031086 [GRCh38]
Chr6:52895884 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1892G>A (p.Arg631Gln) single nucleotide variant not specified [RCV004690778] Chr6:53005156 [GRCh38]
Chr6:52869954 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1422G>C (p.Gln474His) single nucleotide variant not specified [RCV004610684] Chr6:53011839 [GRCh38]
Chr6:52876637 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1862G>A (p.Arg621Gln) single nucleotide variant not specified [RCV004610685] Chr6:53005186 [GRCh38]
Chr6:52869984 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1530C>T (p.Gly510=) single nucleotide variant not specified [RCV004586225] Chr6:53009530 [GRCh38]
Chr6:52874328 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1828C>T (p.Pro610Ser) single nucleotide variant CILK1-related disorder [RCV004728453] Chr6:53005220 [GRCh38]
Chr6:52870018 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1664_1665del (p.Tyr555fs) deletion Cranioectodermal dysplasia [RCV004771605] Chr6:53006394..53006395 [GRCh38]
Chr6:52871192..52871193 [GRCh37]
Chr6:6p12.1		 pathogenic
NM_014920.5(CILK1):c.1499G>A (p.Ser500Asn) single nucleotide variant not specified [RCV004899654] Chr6:53009561 [GRCh38]
Chr6:52874359 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1293C>A (p.Ser431Arg) single nucleotide variant not specified [RCV004441859] Chr6:53012087 [GRCh38]
Chr6:52876885 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1654A>G (p.Thr552Ala) single nucleotide variant not specified [RCV004441861] Chr6:53006405 [GRCh38]
Chr6:52871203 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.409G>C (p.Glu137Gln) single nucleotide variant not specified [RCV004899649] Chr6:53019309 [GRCh38]
Chr6:52884107 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1856A>G (p.His619Arg) single nucleotide variant not specified [RCV004899650] Chr6:53005192 [GRCh38]
Chr6:52869990 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1223T>C (p.Ile408Thr) single nucleotide variant not specified [RCV004899653] Chr6:53012157 [GRCh38]
Chr6:52876955 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1406C>T (p.Thr469Ile) single nucleotide variant not specified [RCV004899661] Chr6:53011855 [GRCh38]
Chr6:52876653 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1338C>A (p.Leu446=) single nucleotide variant not provided [RCV005147625] Chr6:53012042 [GRCh38]
Chr6:52876840 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1110C>T (p.Ser370=) single nucleotide variant not provided [RCV005066013] Chr6:53013704 [GRCh38]
Chr6:52878502 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.811A>G (p.Lys271Glu) single nucleotide variant not specified [RCV004899655] Chr6:53016103 [GRCh38]
Chr6:52880901 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.100A>C (p.Lys34Gln) single nucleotide variant not specified [RCV004899656] Chr6:53041137 [GRCh38]
Chr6:52905935 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1134C>T (p.His378=) single nucleotide variant not provided [RCV005200129] Chr6:53013680 [GRCh38]
Chr6:52878478 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1740C>T (p.Ser580=) single nucleotide variant not provided [RCV005154807] Chr6:53006319 [GRCh38]
Chr6:52871117 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1855C>T (p.His619Tyr) single nucleotide variant not provided [RCV005245466] Chr6:53005193 [GRCh38]
Chr6:52869991 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.831+8T>G single nucleotide variant not provided [RCV005242824] Chr6:53016075 [GRCh38]
Chr6:52880873 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.157-13C>T single nucleotide variant not provided [RCV005128803] Chr6:53032667 [GRCh38]
Chr6:52897465 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1622-11T>C single nucleotide variant not provided [RCV005194525] Chr6:53006448 [GRCh38]
Chr6:52871246 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1621+19C>T single nucleotide variant not provided [RCV005132729] Chr6:53009420 [GRCh38]
Chr6:52874218 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.171C>T (p.Leu57=) single nucleotide variant not provided [RCV005135427] Chr6:53032640 [GRCh38]
Chr6:52897438 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.832-14A>G single nucleotide variant not provided [RCV005158587] Chr6:53013996 [GRCh38]
Chr6:52878794 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1622-15G>C single nucleotide variant not provided [RCV005136207] Chr6:53006452 [GRCh38]
Chr6:52871250 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.831+19G>A single nucleotide variant not provided [RCV005075000] Chr6:53016064 [GRCh38]
Chr6:52880862 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.1131C>T (p.Leu377=) single nucleotide variant not provided [RCV005075234] Chr6:53013683 [GRCh38]
Chr6:52878481 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.480A>C (p.Val160=) single nucleotide variant not provided [RCV005150848] Chr6:53019238 [GRCh38]
Chr6:52884036 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.359-10G>A single nucleotide variant not provided [RCV005157866] Chr6:53019369 [GRCh38]
Chr6:52884167 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.547G>A (p.Val183Ile) single nucleotide variant not specified [RCV004899659] Chr6:53018446 [GRCh38]
Chr6:52883244 [GRCh37]
Chr6:6p12.1		 likely benign
NM_014920.5(CILK1):c.889C>A (p.Leu297Ile) single nucleotide variant not specified [RCV004899660] Chr6:53013925 [GRCh38]
Chr6:52878723 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1531A>C (p.Lys511Gln) single nucleotide variant not specified [RCV004899662] Chr6:53009529 [GRCh38]
Chr6:52874327 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.50C>T (p.Ser17Phe) single nucleotide variant not provided [RCV005064609] Chr6:53041187 [GRCh38]
Chr6:52905985 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.1427G>A (p.Arg476Gln) single nucleotide variant not specified [RCV004899651] Chr6:53011834 [GRCh38]
Chr6:52876632 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.268A>G (p.Ile90Val) single nucleotide variant not specified [RCV004899652] Chr6:53032543 [GRCh38]
Chr6:52897341 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.644T>A (p.Val215Glu) single nucleotide variant not specified [RCV004899657] Chr6:53018349 [GRCh38]
Chr6:52883147 [GRCh37]
Chr6:6p12.1		 uncertain significance
NM_014920.5(CILK1):c.986C>T (p.Pro329Leu) single nucleotide variant not specified [RCV004899658] Chr6:53013828 [GRCh38]
Chr6:52878626 [GRCh37]
Chr6:6p12.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:3049
Count of miRNA genes:831
Interacting mature miRNAs:984
Transcripts:ENST00000350082, ENST00000356971
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597229304GWAS1325378_Hsmoking status measurement QTL GWAS1325378 (human)2e-13smoking status measurement65304070353040704Human
597226717GWAS1322791_Hsmoking status measurement QTL GWAS1322791 (human)2e-09smoking status measurement65303043253030433Human
597228079GWAS1324153_Hsmoking initiation QTL GWAS1324153 (human)4e-11smoking initiation65304070353040704Human
597093711GWAS1189785_Hintermittent Staphylococcus aureus carrier status QTL GWAS1189785 (human)0.000009response to bacterial infection trait (VT:0010435)65302582753025828Human

Markers in Region
RH45102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37652,869,745 - 52,869,946UniSTSGRCh37
Build 36652,977,704 - 52,977,905RGDNCBI36
Celera654,531,519 - 54,531,720RGD
Cytogenetic Map6p12.1UniSTS
HuRef652,701,218 - 52,701,419UniSTS
GeneMap99-GB4 RH Map6209.48UniSTS
G20625  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37652,866,168 - 52,866,342UniSTSGRCh37
Build 36652,974,127 - 52,974,301RGDNCBI36
Celera654,527,942 - 54,528,116RGD
Cytogenetic Map6p12.1UniSTS
HuRef652,697,641 - 52,697,815UniSTS
A005Z26  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37652,866,168 - 52,866,342UniSTSGRCh37
Build 36652,974,127 - 52,974,301RGDNCBI36
Celera654,527,942 - 54,528,116RGD
Cytogenetic Map6p12.1UniSTS
HuRef652,697,641 - 52,697,815UniSTS
GeneMap99-GB4 RH Map6201.14UniSTS
NCBI RH Map6708.6UniSTS
SGC35018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37652,898,279 - 52,898,383UniSTSGRCh37
Build 36653,006,238 - 53,006,342RGDNCBI36
Celera654,560,054 - 54,560,157RGD
Cytogenetic Map6p12.1UniSTS
HuRef652,729,754 - 52,729,857UniSTS
GeneMap99-GB4 RH Map6209.44UniSTS
GeneMap99-GB4 RH Map6202.42UniSTS
Whitehead-RH Map6300.1UniSTS
RH91718  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37652,866,123 - 52,866,250UniSTSGRCh37
Build 36652,974,082 - 52,974,209RGDNCBI36
Celera654,527,897 - 54,528,024RGD
Cytogenetic Map6p12.1UniSTS
HuRef652,697,596 - 52,697,723UniSTS
GeneMap99-GB4 RH Map6201.19UniSTS
AL035186  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37652,877,416 - 52,877,562UniSTSGRCh37
Build 36652,985,375 - 52,985,521RGDNCBI36
Celera654,539,190 - 54,539,336RGD
Cytogenetic Map6p12.1UniSTS
HuRef652,708,889 - 52,709,035UniSTS
A006C43  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37652,867,179 - 52,867,352UniSTSGRCh37
Build 36652,975,138 - 52,975,311RGDNCBI36
Celera654,528,953 - 54,529,126RGD
Cytogenetic Map6p12.1UniSTS
HuRef652,698,652 - 52,698,825UniSTS
GeneMap99-GB4 RH Map6206.74UniSTS
D6S1221E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37652,867,302 - 52,867,426UniSTSGRCh37
Build 36652,975,261 - 52,975,385RGDNCBI36
Celera654,529,076 - 54,529,200RGD
Cytogenetic Map6p12.1UniSTS
HuRef652,698,775 - 52,698,899UniSTS
GeneMap99-GB4 RH Map6201.19UniSTS
NCBI RH Map6713.2UniSTS
RH68677  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37652,898,110 - 52,898,290UniSTSGRCh37
Build 36653,006,069 - 53,006,249RGDNCBI36
Celera654,559,885 - 54,560,065RGD
Cytogenetic Map6p12.1UniSTS
HuRef652,729,585 - 52,729,765UniSTS
GeneMap99-GB4 RH Map6201.19UniSTS
ICK__6439  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37652,865,956 - 52,866,845UniSTSGRCh37
Build 36652,973,915 - 52,974,804RGDNCBI36
Celera654,527,730 - 54,528,619RGD
HuRef652,697,429 - 52,698,318UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
G32322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37652,867,179 - 52,867,352UniSTSGRCh37
Celera654,528,953 - 54,529,126UniSTS
Cytogenetic Map6p12.1UniSTS
HuRef652,698,652 - 52,698,825UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1949 465 2270 7304 6470 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB023153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF152469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF225919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI699136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ420557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC152464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA456873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000350082   ⟹   ENSP00000263043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl653,001,279 - 53,061,770 (-)Ensembl
Ensembl Acc Id: ENST00000356971   ⟹   ENSP00000349458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl653,001,311 - 53,061,802 (-)Ensembl
Ensembl Acc Id: ENST00000676107   ⟹   ENSP00000501692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl653,001,303 - 53,061,824 (-)Ensembl
RefSeq Acc Id: NM_001375397   ⟹   NP_001362326
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38653,001,303 - 53,061,824 (-)NCBI
T2T-CHM13v2.0652,840,881 - 52,901,428 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001375398   ⟹   NP_001362327
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38653,001,303 - 53,061,824 (-)NCBI
T2T-CHM13v2.0652,840,881 - 52,901,428 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001375399   ⟹   NP_001362328
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38653,001,303 - 53,061,824 (-)NCBI
T2T-CHM13v2.0652,840,881 - 52,901,428 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001375400   ⟹   NP_001362329
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38653,001,303 - 53,061,824 (-)NCBI
T2T-CHM13v2.0652,840,881 - 52,901,428 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001375401   ⟹   NP_001362330
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38653,001,303 - 53,061,824 (-)NCBI
T2T-CHM13v2.0652,840,881 - 52,901,428 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001375402   ⟹   NP_001362331
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38653,001,303 - 53,061,824 (-)NCBI
T2T-CHM13v2.0652,840,881 - 52,901,428 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014920   ⟹   NP_055735
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38653,001,303 - 53,061,824 (-)NCBI
GRCh37652,866,097 - 52,926,676 (-)NCBI
Build 36652,974,057 - 53,034,559 (-)NCBI Archive
HuRef652,697,571 - 52,758,090 (-)ENTREZGENE
CHM1_1652,867,865 - 52,928,390 (-)NCBI
T2T-CHM13v2.0652,840,881 - 52,901,428 (-)NCBI
Sequence:
RefSeq Acc Id: NM_016513   ⟹   NP_057597
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38653,001,303 - 53,061,824 (-)NCBI
GRCh37652,866,097 - 52,926,676 (-)NCBI
Build 36652,974,057 - 53,034,559 (-)NCBI Archive
HuRef652,697,571 - 52,758,090 (-)ENTREZGENE
CHM1_1652,867,865 - 52,928,390 (-)NCBI
T2T-CHM13v2.0652,840,881 - 52,901,428 (-)NCBI
Sequence:
RefSeq Acc Id: NR_164684
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38653,001,303 - 53,061,824 (-)NCBI
T2T-CHM13v2.0652,840,881 - 52,901,428 (-)NCBI
Sequence:
RefSeq Acc Id: NP_055735   ⟸   NM_014920
- Peptide Label: isoform 1
- UniProtKB: Q9BX17 (UniProtKB/Swiss-Prot),   Q8IYH8 (UniProtKB/Swiss-Prot),   Q5THL2 (UniProtKB/Swiss-Prot),   O75985 (UniProtKB/Swiss-Prot),   A7MD41 (UniProtKB/Swiss-Prot),   Q9NYX3 (UniProtKB/Swiss-Prot),   Q9UPZ9 (UniProtKB/Swiss-Prot),   B3KQG4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_057597   ⟸   NM_016513
- Peptide Label: isoform 1
- UniProtKB: Q9BX17 (UniProtKB/Swiss-Prot),   Q8IYH8 (UniProtKB/Swiss-Prot),   Q5THL2 (UniProtKB/Swiss-Prot),   O75985 (UniProtKB/Swiss-Prot),   A7MD41 (UniProtKB/Swiss-Prot),   Q9NYX3 (UniProtKB/Swiss-Prot),   Q9UPZ9 (UniProtKB/Swiss-Prot),   B3KQG4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001362326   ⟸   NM_001375397
- Peptide Label: isoform 2
- UniProtKB: A0A7I2PIU1 (UniProtKB/TrEMBL),   B3KQG4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001362329   ⟸   NM_001375400
- Peptide Label: isoform 1
- UniProtKB: Q9UPZ9 (UniProtKB/Swiss-Prot),   Q9BX17 (UniProtKB/Swiss-Prot),   Q8IYH8 (UniProtKB/Swiss-Prot),   Q5THL2 (UniProtKB/Swiss-Prot),   O75985 (UniProtKB/Swiss-Prot),   A7MD41 (UniProtKB/Swiss-Prot),   Q9NYX3 (UniProtKB/Swiss-Prot),   B3KQG4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001362330   ⟸   NM_001375401
- Peptide Label: isoform 1
- UniProtKB: Q9UPZ9 (UniProtKB/Swiss-Prot),   Q9BX17 (UniProtKB/Swiss-Prot),   Q8IYH8 (UniProtKB/Swiss-Prot),   Q5THL2 (UniProtKB/Swiss-Prot),   O75985 (UniProtKB/Swiss-Prot),   A7MD41 (UniProtKB/Swiss-Prot),   Q9NYX3 (UniProtKB/Swiss-Prot),   B3KQG4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001362328   ⟸   NM_001375399
- Peptide Label: isoform 1
- UniProtKB: Q9UPZ9 (UniProtKB/Swiss-Prot),   Q9BX17 (UniProtKB/Swiss-Prot),   Q8IYH8 (UniProtKB/Swiss-Prot),   Q5THL2 (UniProtKB/Swiss-Prot),   O75985 (UniProtKB/Swiss-Prot),   A7MD41 (UniProtKB/Swiss-Prot),   Q9NYX3 (UniProtKB/Swiss-Prot),   B3KQG4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001362331   ⟸   NM_001375402
- Peptide Label: isoform 1
- UniProtKB: Q9UPZ9 (UniProtKB/Swiss-Prot),   Q9BX17 (UniProtKB/Swiss-Prot),   Q8IYH8 (UniProtKB/Swiss-Prot),   Q5THL2 (UniProtKB/Swiss-Prot),   O75985 (UniProtKB/Swiss-Prot),   A7MD41 (UniProtKB/Swiss-Prot),   Q9NYX3 (UniProtKB/Swiss-Prot),   B3KQG4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001362327   ⟸   NM_001375398
- Peptide Label: isoform 1
- UniProtKB: Q9UPZ9 (UniProtKB/Swiss-Prot),   Q9BX17 (UniProtKB/Swiss-Prot),   Q8IYH8 (UniProtKB/Swiss-Prot),   Q5THL2 (UniProtKB/Swiss-Prot),   O75985 (UniProtKB/Swiss-Prot),   A7MD41 (UniProtKB/Swiss-Prot),   Q9NYX3 (UniProtKB/Swiss-Prot),   B3KQG4 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000263043   ⟸   ENST00000350082
Ensembl Acc Id: ENSP00000349458   ⟸   ENST00000356971
Ensembl Acc Id: ENSP00000501692   ⟸   ENST00000676107
Protein Domains
Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UPZ9-F1-model_v2 AlphaFold Q9UPZ9 1-632 view protein structure

Promoters
RGD ID:6804364
Promoter ID:HG_KWN:53865
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:NM_016513,   OTTHUMT00000040952,   UC003PBJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36653,034,304 - 53,034,804 (-)MPROMDB
RGD ID:7208341
Promoter ID:EPDNEW_H9914
Type:initiation region
Name:ICK_1
Description:intestinal cell kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38653,061,824 - 53,061,884EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21219 AgrOrtholog
COSMIC CILK1 COSMIC
Ensembl Genes ENSG00000112144 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000350082 ENTREZGENE
  ENST00000356971 ENTREZGENE
  ENST00000356971.3 UniProtKB/Swiss-Prot
  ENST00000676107 ENTREZGENE
  ENST00000676107.1 UniProtKB/Swiss-Prot
Gene3D-CATH Phosphorylase Kinase, domain 1 UniProtKB/Swiss-Prot
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot
GTEx ENSG00000112144 GTEx
HGNC ID HGNC:21219 ENTREZGENE
Human Proteome Map CILK1 Human Proteome Map
InterPro Kinase-like_dom UniProtKB/Swiss-Prot
  MAP_kinase UniProtKB/Swiss-Prot
  Prot_kinase_cat_dom UniProtKB/Swiss-Prot
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot
KEGG Report hsa:22858 UniProtKB/Swiss-Prot
NCBI Gene 22858 ENTREZGENE
OMIM 612325 OMIM
PANTHER MITOGEN-ACTIVATED PROTEIN KINASE UniProtKB/Swiss-Prot
Pfam Pkinase UniProtKB/Swiss-Prot
PharmGKB PA166352421 PharmGKB
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot
SMART S_TKc UniProtKB/Swiss-Prot
Superfamily-SCOP Kinase_like UniProtKB/Swiss-Prot
UniProt A0A7I2PIU1 ENTREZGENE, UniProtKB/TrEMBL
  A7MD41 ENTREZGENE
  B3KQG4 ENTREZGENE, UniProtKB/TrEMBL
  ICK_HUMAN UniProtKB/Swiss-Prot
  O75985 ENTREZGENE
  Q5THL2 ENTREZGENE
  Q8IYH8 ENTREZGENE
  Q9BX17 ENTREZGENE
  Q9NYX3 ENTREZGENE
  Q9UPZ9 ENTREZGENE
UniProt Secondary A7MD41 UniProtKB/Swiss-Prot
  O75985 UniProtKB/Swiss-Prot
  Q5THL2 UniProtKB/Swiss-Prot
  Q8IYH8 UniProtKB/Swiss-Prot
  Q9BX17 UniProtKB/Swiss-Prot
  Q9NYX3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-09-24 CILK1  ciliogenesis associated kinase 1  ICK  intestinal cell kinase  Symbol and/or name change 5135510 APPROVED
2016-08-23 ICK  intestinal cell kinase  ICK  intestinal cell (MAK-like) kinase  Symbol and/or name change 5135510 APPROVED