CIB1 (calcium and integrin binding 1) - Rat Genome Database

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Gene: CIB1 (calcium and integrin binding 1) Homo sapiens
Analyze
Symbol: CIB1
Name: calcium and integrin binding 1
RGD ID: 732228
HGNC Page HGNC:16920
Description: Enables several functions, including calcium ion binding activity; calcium-dependent protein kinase inhibitor activity; and small GTPase binding activity. Involved in several processes, including negative regulation of cellular component organization; positive regulation of cell adhesion; and positive regulation of protein localization to membrane. Located in several cellular components, including centrosome; filopodium tip; and sarcolemma. Implicated in epidermodysplasia verruciformis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: calcium and integrin binding 1 (calmyrin); calcium and integrin binding protein; calcium and integrin binding protein 1; calcium and integrin binding, protein kinase interacting protein; calcium and integrin-binding protein 1; calcium- and integrin-binding protein; calmyrin; CIB; CIBP; DNA-dependent protein kinase interacting protein; DNA-PK interaction protein; DNA-PKcs-interacting protein; EV3; kinase-interacting protein; KIP; KIP1; PRKDCIP; SIP2-28; Snk interacting protein 2-28; SNK-interacting protein 2-28; testicular secretory protein Li 9
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
GRCh381590,229,975 - 90,265,759 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1590,229,975 - 90,234,047 (-)EnsemblGRCh38hg38GRCh38
GRCh371590,773,207 - 90,808,991 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361588,574,481 - 88,578,168 (-)NCBINCBI36Build 36hg18NCBI36
Build 341588,574,481 - 88,578,164NCBI
Celera1567,177,856 - 67,181,658 (-)NCBICelera
Cytogenetic Map15q26.1NCBI
HuRef1566,885,466 - 66,920,950 (-)NCBIHuRef
CHM1_11590,615,325 - 90,650,739 (-)NCBICHM1_1
T2T-CHM13v2.01587,985,982 - 88,021,749 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process
angiogenesis  (IEA)
apoptotic process  (IEA,IMP)
cell adhesion  (IEA,TAS)
cell differentiation  (IEA)
cell division  (IEA)
cellular response to growth factor stimulus  (IBA,IEA,ISS)
cellular response to nerve growth factor stimulus  (IDA)
cellular response to tumor necrosis factor  (IMP)
cytoplasmic microtubule organization  (IMP)
DNA damage response  (IDA)
double-strand break repair  (TAS)
endomitotic cell cycle  (IDA)
extrinsic apoptotic signaling pathway  (TAS)
negative regulation of apoptotic process  (IEA,IMP)
negative regulation of cell population proliferation  (IMP)
negative regulation of megakaryocyte differentiation  (IEA,ISS)
negative regulation of microtubule depolymerization  (IDA)
negative regulation of neuron projection development  (IDA)
negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IEA,ISS)
negative regulation of protein phosphorylation  (ISS)
platelet formation  (IEA,ISS)
positive regulation of calcineurin-NFAT signaling cascade  (IBA,IDA,IEA)
positive regulation of catalytic activity  (ISS)
positive regulation of cell adhesion mediated by integrin  (IDA)
positive regulation of cell growth  (IEA,ISS)
positive regulation of cell migration  (IEA,ISS)
positive regulation of cell migration involved in sprouting angiogenesis  (IEA,ISS)
positive regulation of cell population proliferation  (IEA,ISS)
positive regulation of cell-matrix adhesion  (IEA,ISS)
positive regulation of ERK1 and ERK2 cascade  (IEA,ISS)
positive regulation of male germ cell proliferation  (IEA,ISS)
positive regulation of NF-kappaB transcription factor activity  (IMP)
positive regulation of protein localization to plasma membrane  (IBA,IEA,IGI)
positive regulation of protein phosphorylation  (ISS)
positive regulation of protein serine/threonine kinase activity  (ISS)
positive regulation of protein targeting to membrane  (IMP)
positive regulation of substrate adhesion-dependent cell spreading  (IDA)
regulation of cell division  (IMP)
regulation of cell population proliferation  (IMP)
response to ischemia  (IEA,ISS)
spermatid development  (IEA,ISS)
spermatogenesis  (IEA)
thrombopoietin-mediated signaling pathway  (IEA,ISS)

Cellular Component
apical plasma membrane  (IEA)
axon  (IBA,ISO)
cell periphery  (IDA)
cell projection  (IEA)
centrosome  (IDA,IEA)
cytoplasm  (IBA,IDA,IEA,IMP)
cytoskeleton  (IEA)
dendrite  (ISO)
endoplasmic reticulum  (IMP)
extracellular exosome  (HDA)
filopodium tip  (IDA,IEA)
Golgi apparatus  (IEA)
growth cone  (IDA,IEA)
lamellipodium  (IDA,IEA)
membrane  (IDA,IEA)
neuron projection  (IDA,IEA)
neuronal cell body  (IBA,IDA,ISO)
nucleoplasm  (IDA,IMP)
nucleus  (IBA,IDA,IEA)
perikaryon  (IEA)
perinuclear region of cytoplasm  (IDA,IEA)
plasma membrane  (IDA,IEA)
ruffle membrane  (IEA)
sarcolemma  (IBA,IDA,IEA)
vesicle  (HDA)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. The Alzheimer disease-related calcium-binding protein Calmyrin is present in human forebrain with an altered distribution in Alzheimer's as compared to normal ageing brains. Bernstein HG, etal., Neuropathol Appl Neurobiol. 2005 Jun;31(3):314-24.
2. Expression of genes encoding the calcium signalosome in cellular and transgenic models of Huntington's disease. Czeredys M, etal., Front Mol Neurosci. 2013 Nov 25;6:42. doi: 10.3389/fnmol.2013.00042. eCollection 2013.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9030514   PMID:9372844   PMID:9852683   PMID:10366599   PMID:10523297   PMID:10745097   PMID:10822252   PMID:10826701   PMID:11039900   PMID:11756406   PMID:11856312   PMID:11997098  
PMID:12011095   PMID:12023286   PMID:12477932   PMID:12651910   PMID:12714504   PMID:12881299   PMID:14992593   PMID:15190070   PMID:15203218   PMID:15231747   PMID:15475008   PMID:15489334  
PMID:15574431   PMID:15604093   PMID:15685448   PMID:15933764   PMID:16061695   PMID:16418530   PMID:16582881   PMID:16723353   PMID:16825200   PMID:17516631   PMID:18627437   PMID:18989529  
PMID:19056867   PMID:19190083   PMID:19388079   PMID:19805025   PMID:19854831   PMID:19913121   PMID:19923078   PMID:20458337   PMID:20473878   PMID:20628086   PMID:20639889   PMID:20951827  
PMID:20959453   PMID:21215777   PMID:21264284   PMID:21388953   PMID:21748785   PMID:21857112   PMID:21873635   PMID:21988832   PMID:22547769   PMID:22779914   PMID:22964641   PMID:23376485  
PMID:23503467   PMID:23533145   PMID:24011356   PMID:24163826   PMID:24464679   PMID:24550731   PMID:24585405   PMID:24705354   PMID:25012820   PMID:26105795   PMID:26845356   PMID:26972000  
PMID:27489023   PMID:27941888   PMID:28514442   PMID:28542214   PMID:28939911   PMID:29017172   PMID:29028109   PMID:29125118   PMID:29644863   PMID:30068544   PMID:30884312   PMID:31452512  
PMID:31530712   PMID:32296183   PMID:32307772   PMID:32814053   PMID:32917726   PMID:32917957   PMID:33082516   PMID:33961781   PMID:34349085   PMID:34794407   PMID:35914814   PMID:37187730  
PMID:38451745   PMID:38993552  


Genomics

Comparative Map Data
CIB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381590,229,975 - 90,265,759 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1590,229,975 - 90,234,047 (-)EnsemblGRCh38hg38GRCh38
GRCh371590,773,207 - 90,808,991 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361588,574,481 - 88,578,168 (-)NCBINCBI36Build 36hg18NCBI36
Build 341588,574,481 - 88,578,164NCBI
Celera1567,177,856 - 67,181,658 (-)NCBICelera
Cytogenetic Map15q26.1NCBI
HuRef1566,885,466 - 66,920,950 (-)NCBIHuRef
CHM1_11590,615,325 - 90,650,739 (-)NCBICHM1_1
T2T-CHM13v2.01587,985,982 - 88,021,749 (-)NCBIT2T-CHM13v2.0
Cib1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39779,876,904 - 79,882,367 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl779,876,895 - 79,882,561 (-)EnsemblGRCm39 Ensembl
GRCm38780,227,156 - 80,232,805 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl780,227,147 - 80,232,813 (-)EnsemblGRCm38mm10GRCm38
MGSCv37787,372,046 - 87,377,502 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36780,100,673 - 80,106,129 (-)NCBIMGSCv36mm8
Celera777,628,499 - 77,633,950 (-)NCBICelera
Cytogenetic Map7D2NCBI
cM Map745.55NCBI
Cib1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81143,587,591 - 143,593,153 (-)NCBIGRCr8
mRatBN7.21134,178,331 - 134,183,895 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1134,178,331 - 134,213,423 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1142,087,063 - 142,092,596 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01149,256,463 - 149,261,996 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01142,174,501 - 142,180,032 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01142,014,962 - 142,020,461 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1142,014,958 - 142,020,525 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01142,969,357 - 142,974,856 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41136,031,865 - 136,045,153 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11136,110,270 - 136,123,559 (-)NCBI
Celera1126,238,471 - 126,243,970 (-)NCBICelera
Cytogenetic Map1q31NCBI
Cib1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541615,102,632 - 15,106,372 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541615,102,632 - 15,106,372 (+)NCBIChiLan1.0ChiLan1.0
CIB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21679,778,580 - 79,782,540 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11583,478,015 - 83,481,975 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01568,919,377 - 68,923,213 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11588,121,309 - 88,125,120 (-)NCBIpanpan1.1PanPan1.1panPan2
CIB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1353,184,713 - 53,209,195 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl353,184,714 - 53,188,224 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha355,822,517 - 55,847,781 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0353,600,749 - 53,626,017 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl353,600,750 - 53,625,109 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1353,120,852 - 53,146,101 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0353,331,988 - 53,357,228 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0353,672,463 - 53,697,717 (-)NCBIUU_Cfam_GSD_1.0
Cib1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640130,366,977 - 130,370,657 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648315,960,036 - 15,968,094 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648315,963,863 - 15,967,458 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CIB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl755,794,836 - 55,798,590 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1755,794,834 - 55,798,666 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2760,656,933 - 60,659,823 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CIB1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1298,777,202 - 8,781,027 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl298,777,436 - 8,781,030 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605937,949,545 - 37,953,393 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cib1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476817,209,639 - 17,213,114 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476817,209,639 - 17,212,996 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CIB1
185 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3 copy number gain See cases [RCV000052354] Chr15:89679237..101978958 [GRCh38]
Chr15:90222468..102519161 [GRCh37]
Chr15:88023472..100336684 [NCBI36]
Chr15:15q26.1-26.3		 pathogenic
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3		 pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 copy number gain See cases [RCV000052347] Chr15:77543797..101843411 [GRCh38]
Chr15:77836139..102383614 [GRCh37]
Chr15:75623194..100201137 [NCBI36]
Chr15:15q24.3-26.3		 pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3 copy number gain See cases [RCV000052352] Chr15:84169153..101904929 [GRCh38]
Chr15:84837905..102445132 [GRCh37]
Chr15:82628909..100262655 [NCBI36]
Chr15:15q25.2-26.3		 pathogenic
NM_001013657.2(GDPGP1):c.275T>C (p.Val92Ala) single nucleotide variant Malignant melanoma [RCV000070954] Chr15:90241183 [GRCh38]
Chr15:90784415 [GRCh37]
Chr15:88585419 [NCBI36]
Chr15:15q26.1		 not provided
GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3 copy number gain See cases [RCV000135858] Chr15:83711377..101843270 [GRCh38]
Chr15:84380129..102383473 [GRCh37]
Chr15:82171133..100200996 [NCBI36]
Chr15:15q25.2-26.3		 pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3 copy number gain See cases [RCV000135568] Chr15:87904735..101843270 [GRCh38]
Chr15:88447966..102383473 [GRCh37]
Chr15:86248970..100200996 [NCBI36]
Chr15:15q25.3-26.3		 pathogenic
GRCh38/hg38 15q26.1(chr15:90216530-90767025)x1 copy number loss See cases [RCV000135962] Chr15:90216530..90767025 [GRCh38]
Chr15:90759762..91310255 [GRCh37]
Chr15:88560766..89111259 [NCBI36]
Chr15:15q26.1		 uncertain significance
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 copy number gain See cases [RCV000136849] Chr15:82859676..101810992 [GRCh38]
Chr15:83528428..102351195 [GRCh37]
Chr15:81325482..100168718 [NCBI36]
Chr15:15q25.2-26.3		 pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4 copy number gain See cases [RCV000137264] Chr15:85826665..101920998 [GRCh38]
Chr15:86369896..102461201 [GRCh37]
Chr15:84170900..100278724 [NCBI36]
Chr15:15q25.3-26.3		 pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3 copy number gain See cases [RCV000141899] Chr15:85397539..101888909 [GRCh38]
Chr15:85940770..102429112 [GRCh37]
Chr15:83741774..100246635 [NCBI36]
Chr15:15q25.3-26.3		 pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3		 pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3		 pathogenic
GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3 copy number gain See cases [RCV000142727] Chr15:88676575..98364743 [GRCh38]
Chr15:89219806..98907972 [GRCh37]
Chr15:87020810..96725495 [NCBI36]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q26.1(chr15:90770832-90777093)x3 copy number gain Breast ductal adenocarcinoma [RCV000207263] Chr15:90770832..90777093 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 copy number gain See cases [RCV000511332] Chr15:76061144..102429112 [GRCh37]
Chr15:15q24.2-26.3		 pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3		 pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3		 likely pathogenic
GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3 copy number gain See cases [RCV000449119] Chr15:85089467..102495441 [GRCh37]
Chr15:15q25.2-26.3		 pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90346994-102354798) copy number loss See cases [RCV000447603] Chr15:90346994..102354798 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:89924847-102429112)x3 copy number gain See cases [RCV000445978] Chr15:89924847..102429112 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3 copy number gain See cases [RCV000445705] Chr15:80648093..102429112 [GRCh37]
Chr15:15q25.1-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3 copy number gain See cases [RCV000448044] Chr15:86148286..102511616 [GRCh37]
Chr15:15q25.3-26.3		 pathogenic
GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1 copy number loss See cases [RCV000448680] Chr15:88295992..94215607 [GRCh37]
Chr15:15q25.3-26.1		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3 copy number gain See cases [RCV000511629] Chr15:86899001..98734014 [GRCh37]
Chr15:15q25.3-26.3		 likely pathogenic
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3 copy number gain not provided [RCV000683718] Chr15:89743929..102429112 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3		 pathogenic
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 copy number gain not provided [RCV000683710] Chr15:77479244..102429112 [GRCh37]
Chr15:15q24.3-26.3		 pathogenic
NM_006384.4(CIB1):c.248_249del (p.Lys83fs) deletion Epidermodysplasia verruciformis, susceptibility to, 3 [RCV000735845] Chr15:90231454..90231455 [GRCh38]
Chr15:90774686..90774687 [GRCh37]
Chr15:15q26.1		 risk factor
NM_006384.4(CIB1):c.465+1dup duplication Epidermodysplasia verruciformis, susceptibility to, 3 [RCV000735846] Chr15:90231093..90231094 [GRCh38]
Chr15:90774325..90774326 [GRCh37]
Chr15:15q26.1		 risk factor
NM_006384.4(CIB1):c.548_549dup (p.Ala184fs) duplication Epidermodysplasia verruciformis, susceptibility to, 3 [RCV000735847] Chr15:90230938..90230939 [GRCh38]
Chr15:90774170..90774171 [GRCh37]
Chr15:15q26.1		 risk factor
NM_006384.4(CIB1):c.214C>T (p.Arg72Ter) single nucleotide variant Epidermodysplasia verruciformis, susceptibility to, 3 [RCV000735848]|not provided [RCV001869011] Chr15:90231489 [GRCh38]
Chr15:90774721 [GRCh37]
Chr15:15q26.1		 pathogenic|risk factor
NM_006384.4(CIB1):c.52-2A>G single nucleotide variant Epidermodysplasia verruciformis, susceptibility to, 3 [RCV000735849] Chr15:90233705 [GRCh38]
Chr15:90776937 [GRCh37]
Chr15:15q26.1		 risk factor
GRCh37/hg19 15q25.3-26.3(chr15:88385150-102461162)x3 copy number gain not provided [RCV000738864] Chr15:88385150..102461162 [GRCh37]
Chr15:15q25.3-26.3		 pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90277151-102376761)x3 copy number gain not provided [RCV000751387] Chr15:90277151..102376761 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q26.1(chr15:90660359-90838393)x3 copy number gain not provided [RCV000751388] Chr15:90660359..90838393 [GRCh37]
Chr15:15q26.1		 benign
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_006384.4(CIB1):c.444G>A (p.Glu148=) single nucleotide variant CIB1-related disorder [RCV003940432]|not provided [RCV000881582] Chr15:90231116 [GRCh38]
Chr15:90774348 [GRCh37]
Chr15:15q26.1		 benign
NM_006384.4(CIB1):c.435T>C (p.Ser145=) single nucleotide variant CIB1-related disorder [RCV003920546]|not provided [RCV000881583] Chr15:90231125 [GRCh38]
Chr15:90774357 [GRCh37]
Chr15:15q26.1		 benign
GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844) copy number loss not provided [RCV000767759] Chr15:83883823..92165844 [GRCh37]
Chr15:15q25.2-26.1		 pathogenic
NM_006384.4(CIB1):c.87-84C>T single nucleotide variant CIB1-related disorder [RCV003970678]|not provided [RCV000947647]|not specified [RCV003489976] Chr15:90232411 [GRCh38]
Chr15:90775643 [GRCh37]
Chr15:15q26.1		 benign|likely benign
GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3 copy number gain not provided [RCV000846885] Chr15:90288175..102429112 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1 copy number loss not provided [RCV001006718] Chr15:87189245..102429112 [GRCh37]
Chr15:15q25.3-26.3		 pathogenic
NC_000015.9:g.(?_90773716)_(90777117_?)dup duplication not provided [RCV003107321] Chr15:90773716..90777117 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.638C>T (p.Ser213Leu) single nucleotide variant not specified [RCV004295340] Chr15:90241546 [GRCh38]
Chr15:90784778 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1 copy number loss See cases [RCV001263026] Chr15:86962053..102531392 [GRCh37]
Chr15:15q25.3-26.3		 pathogenic
NM_006384.4(CIB1):c.437C>T (p.Ala146Val) single nucleotide variant not provided [RCV001294658] Chr15:90231123 [GRCh38]
Chr15:90774355 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.460G>T (p.Asp154Tyr) single nucleotide variant not provided [RCV001310054] Chr15:90231100 [GRCh38]
Chr15:90774332 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance
NM_006384.4(CIB1):c.87-82A>G single nucleotide variant not provided [RCV001349618] Chr15:90232409 [GRCh38]
Chr15:90775641 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.417C>T (p.Gly139=) single nucleotide variant not provided [RCV001350779] Chr15:90231143 [GRCh38]
Chr15:90774375 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.347-9G>C single nucleotide variant not provided [RCV001440870] Chr15:90231222 [GRCh38]
Chr15:90774454 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.270C>T (p.Asp90=) single nucleotide variant not provided [RCV001499124] Chr15:90231433 [GRCh38]
Chr15:90774665 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.244G>A (p.Ala82Thr) single nucleotide variant CIB1-related disorder [RCV003940927]|not provided [RCV001515594] Chr15:90231459 [GRCh38]
Chr15:90774691 [GRCh37]
Chr15:15q26.1		 benign
NM_006384.4(CIB1):c.119A>C (p.Gln40Pro) single nucleotide variant CIB1-related disorder [RCV003980478]|not provided [RCV001510903] Chr15:90232295 [GRCh38]
Chr15:90775527 [GRCh37]
Chr15:15q26.1		 benign
NM_006384.4(CIB1):c.195+8C>T single nucleotide variant CIB1-related disorder [RCV003956105]|not provided [RCV001500556] Chr15:90232211 [GRCh38]
Chr15:90775443 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.466-5C>G single nucleotide variant CIB1-related disorder [RCV003983940]|not provided [RCV001517247]|not specified [RCV003487364] Chr15:90231027 [GRCh38]
Chr15:90774259 [GRCh37]
Chr15:15q26.1		 benign
NM_006384.4(CIB1):c.87-13C>T single nucleotide variant not provided [RCV001459316] Chr15:90232340 [GRCh38]
Chr15:90775572 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.347-6_347-3del microsatellite not provided [RCV001520089]|not specified [RCV003487389] Chr15:90231216..90231219 [GRCh38]
Chr15:90774448..90774451 [GRCh37]
Chr15:15q26.1		 benign
GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)x1 copy number loss not provided [RCV001795547] Chr15:88465861..94411846 [GRCh37]
Chr15:15q25.3-26.2		 pathogenic
NM_006384.4(CIB1):c.132C>A (p.Ser44Arg) single nucleotide variant not provided [RCV002025389] Chr15:90232282 [GRCh38]
Chr15:90775514 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.87-35G>A single nucleotide variant not provided [RCV001987772] Chr15:90232362 [GRCh38]
Chr15:90775594 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.476A>T (p.Glu159Val) single nucleotide variant not provided [RCV002042526] Chr15:90231012 [GRCh38]
Chr15:90774244 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.550G>C (p.Ala184Pro) single nucleotide variant not provided [RCV001969039] Chr15:90230938 [GRCh38]
Chr15:90774170 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1 copy number loss not provided [RCV001827973] Chr15:89520451..93926491 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_006384.4(CIB1):c.164T>C (p.Phe55Ser) single nucleotide variant not provided [RCV002025188] Chr15:90232250 [GRCh38]
Chr15:90775482 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.133G>A (p.Val45Met) single nucleotide variant not provided [RCV001985117] Chr15:90232281 [GRCh38]
Chr15:90775513 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.140C>T (p.Ser47Leu) single nucleotide variant not provided [RCV002004578] Chr15:90232274 [GRCh38]
Chr15:90775506 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.87-35G>T single nucleotide variant not provided [RCV002021363] Chr15:90232362 [GRCh38]
Chr15:90775594 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.425C>G (p.Thr142Arg) single nucleotide variant not provided [RCV002024638] Chr15:90231135 [GRCh38]
Chr15:90774367 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.299A>G (p.Asp100Gly) single nucleotide variant not provided [RCV002004884] Chr15:90231404 [GRCh38]
Chr15:90774636 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.507C>A (p.Asn169Lys) single nucleotide variant not provided [RCV002004894] Chr15:90230981 [GRCh38]
Chr15:90774213 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.536G>A (p.Arg179His) single nucleotide variant not provided [RCV002005844] Chr15:90230952 [GRCh38]
Chr15:90774184 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.323C>T (p.Ser108Phe) single nucleotide variant not provided [RCV002006126] Chr15:90231380 [GRCh38]
Chr15:90774612 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.226_228del (p.Val76del) deletion not provided [RCV001878728] Chr15:90231475..90231477 [GRCh38]
Chr15:90774707..90774709 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.388C>T (p.Arg130Trp) single nucleotide variant not provided [RCV001933718] Chr15:90231172 [GRCh38]
Chr15:90774404 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.538T>A (p.Ser180Thr) single nucleotide variant not provided [RCV001999380] Chr15:90230950 [GRCh38]
Chr15:90774182 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.87-34C>A single nucleotide variant not provided [RCV001973048] Chr15:90232361 [GRCh38]
Chr15:90775593 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.87-110G>C single nucleotide variant not provided [RCV001922837] Chr15:90232437 [GRCh38]
Chr15:90775669 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.421G>A (p.Asp141Asn) single nucleotide variant not provided [RCV002000939] Chr15:90231139 [GRCh38]
Chr15:90774371 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.215G>A (p.Arg72Gln) single nucleotide variant not provided [RCV001902443] Chr15:90231488 [GRCh38]
Chr15:90774720 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.460G>C (p.Asp154His) single nucleotide variant not provided [RCV001877052] Chr15:90231100 [GRCh38]
Chr15:90774332 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.284T>C (p.Leu95Pro) single nucleotide variant not provided [RCV001977330] Chr15:90231419 [GRCh38]
Chr15:90774651 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.244G>C (p.Ala82Pro) single nucleotide variant not provided [RCV002049180] Chr15:90231459 [GRCh38]
Chr15:90774691 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.361G>A (p.Gly121Arg) single nucleotide variant not provided [RCV001989786]|not specified [RCV004612033] Chr15:90231199 [GRCh38]
Chr15:90774431 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.60G>A (p.Thr20=) single nucleotide variant not provided [RCV001973199] Chr15:90233695 [GRCh38]
Chr15:90776927 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.8G>A (p.Gly3Asp) single nucleotide variant not provided [RCV001975600] Chr15:90233878 [GRCh38]
Chr15:90777110 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.369G>C (p.Leu123Phe) single nucleotide variant not provided [RCV001973276] Chr15:90231191 [GRCh38]
Chr15:90774423 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.547T>C (p.Phe183Leu) single nucleotide variant not provided [RCV001904090] Chr15:90230941 [GRCh38]
Chr15:90774173 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.13G>A (p.Gly5Ser) single nucleotide variant not provided [RCV002016175] Chr15:90233873 [GRCh38]
Chr15:90777105 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.148C>G (p.Arg50Gly) single nucleotide variant not provided [RCV001980550] Chr15:90232266 [GRCh38]
Chr15:90775498 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.87-40C>T single nucleotide variant not provided [RCV001880376] Chr15:90232367 [GRCh38]
Chr15:90775599 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.506A>G (p.Asn169Ser) single nucleotide variant not provided [RCV002017158] Chr15:90230982 [GRCh38]
Chr15:90774214 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.338G>A (p.Arg113His) single nucleotide variant not provided [RCV001954759]|not specified [RCV004044197] Chr15:90231365 [GRCh38]
Chr15:90774597 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.407C>T (p.Thr136Met) single nucleotide variant not provided [RCV002028692]|not specified [RCV004046114] Chr15:90231153 [GRCh38]
Chr15:90774385 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.196G>A (p.Ala66Thr) single nucleotide variant not provided [RCV002011059]|not specified [RCV004046049] Chr15:90231507 [GRCh38]
Chr15:90774739 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.546C>A (p.Asp182Glu) single nucleotide variant not provided [RCV002018553] Chr15:90230942 [GRCh38]
Chr15:90774174 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.427C>T (p.Arg143Trp) single nucleotide variant not provided [RCV001961107] Chr15:90231133 [GRCh38]
Chr15:90774365 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.87-116G>A single nucleotide variant not provided [RCV001924832] Chr15:90232443 [GRCh38]
Chr15:90775675 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.308C>T (p.Thr103Met) single nucleotide variant not provided [RCV001996790] Chr15:90231395 [GRCh38]
Chr15:90774627 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.87-39G>A single nucleotide variant not provided [RCV002050562] Chr15:90232366 [GRCh38]
Chr15:90775598 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.149G>A (p.Arg50Gln) single nucleotide variant not provided [RCV001920394] Chr15:90232265 [GRCh38]
Chr15:90775497 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.428G>A (p.Arg143Gln) single nucleotide variant not provided [RCV002030098] Chr15:90231132 [GRCh38]
Chr15:90774364 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.418G>A (p.Glu140Lys) single nucleotide variant not provided [RCV001995138]|not specified [RCV004044706] Chr15:90231142 [GRCh38]
Chr15:90774374 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.463A>G (p.Asn155Asp) single nucleotide variant not provided [RCV001900275]|not specified [RCV004040582] Chr15:90231097 [GRCh38]
Chr15:90774329 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.128G>A (p.Arg43Gln) single nucleotide variant not provided [RCV002031163] Chr15:90232286 [GRCh38]
Chr15:90775518 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.350_351del (p.Asp116_Phe117insTer) deletion not provided [RCV001956168] Chr15:90231209..90231210 [GRCh38]
Chr15:90774441..90774442 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_006384.4(CIB1):c.87-44A>C single nucleotide variant not provided [RCV002075502] Chr15:90232371 [GRCh38]
Chr15:90775603 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.148C>T (p.Arg50Trp) single nucleotide variant not provided [RCV002168870] Chr15:90232266 [GRCh38]
Chr15:90775498 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.87-126C>G single nucleotide variant not provided [RCV002186940] Chr15:90232453 [GRCh38]
Chr15:90775685 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.357T>C (p.Asp119=) single nucleotide variant not provided [RCV002108978] Chr15:90231203 [GRCh38]
Chr15:90774435 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.347-18C>T single nucleotide variant not provided [RCV002191052] Chr15:90231231 [GRCh38]
Chr15:90774463 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.87-111C>T single nucleotide variant not provided [RCV002075101] Chr15:90232438 [GRCh38]
Chr15:90775670 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.196-14G>A single nucleotide variant not provided [RCV002116572] Chr15:90231521 [GRCh38]
Chr15:90774753 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.195+14C>T single nucleotide variant not provided [RCV002172718] Chr15:90232205 [GRCh38]
Chr15:90775437 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.87-24C>T single nucleotide variant not provided [RCV002213258] Chr15:90232351 [GRCh38]
Chr15:90775583 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.465+19C>T single nucleotide variant not provided [RCV002134282] Chr15:90231076 [GRCh38]
Chr15:90774308 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.81C>T (p.Ile27=) single nucleotide variant not provided [RCV002135087] Chr15:90233674 [GRCh38]
Chr15:90776906 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.84C>G (p.Leu28=) single nucleotide variant not provided [RCV002086078] Chr15:90233671 [GRCh38]
Chr15:90776903 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.45G>A (p.Glu15=) single nucleotide variant not provided [RCV002150261] Chr15:90233841 [GRCh38]
Chr15:90777073 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.346+8C>T single nucleotide variant not provided [RCV002083609] Chr15:90231349 [GRCh38]
Chr15:90774581 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.554+14C>A single nucleotide variant not provided [RCV002141647] Chr15:90230920 [GRCh38]
Chr15:90774152 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.466-11C>G single nucleotide variant not provided [RCV002176356] Chr15:90231033 [GRCh38]
Chr15:90774265 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.87-114G>T single nucleotide variant not provided [RCV002142819] Chr15:90232441 [GRCh38]
Chr15:90775673 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.52-7C>T single nucleotide variant not provided [RCV002082284] Chr15:90233710 [GRCh38]
Chr15:90776942 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.459C>T (p.Ile153=) single nucleotide variant not provided [RCV002159477] Chr15:90231101 [GRCh38]
Chr15:90774333 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.555-17G>A single nucleotide variant not provided [RCV002139725] Chr15:90230522 [GRCh38]
Chr15:90773754 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.196-5_196-3del deletion not provided [RCV002141554] Chr15:90231510..90231512 [GRCh38]
Chr15:90774742..90774744 [GRCh37]
Chr15:15q26.1		 benign
NM_006384.4(CIB1):c.309G>A (p.Thr103=) single nucleotide variant not provided [RCV002120688] Chr15:90231394 [GRCh38]
Chr15:90774626 [GRCh37]
Chr15:15q26.1		 benign
NC_000015.9:g.(?_89379429)_(91565479_?)dup duplication D-2-hydroxyglutaric aciduria 2 [RCV003111027]|not provided [RCV003111026] Chr15:89379429..91565479 [GRCh37]
Chr15:15q26.1		 uncertain significance|no classifications from unflagged records
NM_001013657.3(GDPGP1):c.593A>C (p.His198Pro) single nucleotide variant not specified [RCV004305449] Chr15:90241501 [GRCh38]
Chr15:90784733 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.20G>T (p.Arg7Leu) single nucleotide variant not provided [RCV002297460] Chr15:90233866 [GRCh38]
Chr15:90777098 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.140C>T (p.Ala47Val) single nucleotide variant not specified [RCV004201905] Chr15:90241048 [GRCh38]
Chr15:90784280 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.356A>G (p.Asp119Gly) single nucleotide variant not provided [RCV002296084] Chr15:90231204 [GRCh38]
Chr15:90774436 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.390G>C (p.Arg130=) single nucleotide variant not provided [RCV002904395] Chr15:90231170 [GRCh38]
Chr15:90774402 [GRCh37]
Chr15:15q26.1		 likely benign
NM_001013657.3(GDPGP1):c.1028C>T (p.Thr343Ile) single nucleotide variant not specified [RCV004097480] Chr15:90241936 [GRCh38]
Chr15:90785168 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.877C>T (p.Arg293Trp) single nucleotide variant not specified [RCV004092573] Chr15:90241785 [GRCh38]
Chr15:90785017 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3 copy number gain not provided [RCV002475797] Chr15:77512817..102035027 [GRCh37]
Chr15:15q24.3-26.3		 pathogenic
NM_006384.4(CIB1):c.39G>T (p.Leu13=) single nucleotide variant not provided [RCV003015049] Chr15:90233847 [GRCh38]
Chr15:90777079 [GRCh37]
Chr15:15q26.1		 likely benign
NM_001013657.3(GDPGP1):c.1072C>T (p.Leu358Phe) single nucleotide variant not specified [RCV004152989] Chr15:90241980 [GRCh38]
Chr15:90785212 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.37T>G (p.Leu13Val) single nucleotide variant not specified [RCV004112661] Chr15:90240945 [GRCh38]
Chr15:90784177 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.118G>A (p.Gly40Arg) single nucleotide variant not specified [RCV004109105] Chr15:90241026 [GRCh38]
Chr15:90784258 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.87-111C>G single nucleotide variant not provided [RCV002617344] Chr15:90232438 [GRCh38]
Chr15:90775670 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_006384.4(CIB1):c.456C>T (p.Leu152=) single nucleotide variant not provided [RCV002616907] Chr15:90231104 [GRCh38]
Chr15:90774336 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.135G>A (p.Val45=) single nucleotide variant not provided [RCV002663127] Chr15:90232279 [GRCh38]
Chr15:90775511 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.554+17C>T single nucleotide variant not provided [RCV002795448] Chr15:90230917 [GRCh38]
Chr15:90774149 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.200A>G (p.Asn67Ser) single nucleotide variant not provided [RCV002658914] Chr15:90231503 [GRCh38]
Chr15:90774735 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.-1_1delinsTT (p.Met1Leu) indel not provided [RCV002659248] Chr15:90233885..90233886 [GRCh38]
Chr15:90777117..90777118 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.86+12C>T single nucleotide variant not provided [RCV003037556] Chr15:90233657 [GRCh38]
Chr15:90776889 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.570C>A (p.Val190=) single nucleotide variant not provided [RCV002797400] Chr15:90230490 [GRCh38]
Chr15:90773722 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.459C>G (p.Ile153Met) single nucleotide variant not provided [RCV002622470] Chr15:90231101 [GRCh38]
Chr15:90774333 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.286A>C (p.Ser96Arg) single nucleotide variant not provided [RCV002796060] Chr15:90231417 [GRCh38]
Chr15:90774649 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.87-125G>A single nucleotide variant not provided [RCV002927010] Chr15:90232452 [GRCh38]
Chr15:90775684 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.229C>T (p.Arg77Cys) single nucleotide variant not specified [RCV004238730] Chr15:90241137 [GRCh38]
Chr15:90784369 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.316A>C (p.Ile106Leu) single nucleotide variant not provided [RCV003008281] Chr15:90231387 [GRCh38]
Chr15:90774619 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.119A>G (p.Gln40Arg) single nucleotide variant not provided [RCV002745461] Chr15:90232295 [GRCh38]
Chr15:90775527 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.524G>T (p.Arg175Leu) single nucleotide variant not specified [RCV004218438] Chr15:90241432 [GRCh38]
Chr15:90784664 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.141G>A (p.Ser47=) single nucleotide variant not provided [RCV002710258] Chr15:90232273 [GRCh38]
Chr15:90775505 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.87-75G>C single nucleotide variant not provided [RCV003083047] Chr15:90232402 [GRCh38]
Chr15:90775634 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.466-3C>T single nucleotide variant not provided [RCV002766517] Chr15:90231025 [GRCh38]
Chr15:90774257 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.536G>T (p.Arg179Leu) single nucleotide variant not provided [RCV002852800] Chr15:90230952 [GRCh38]
Chr15:90774184 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.269G>A (p.Gly90Asp) single nucleotide variant not specified [RCV004206051] Chr15:90241177 [GRCh38]
Chr15:90784409 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.1040T>A (p.Phe347Tyr) single nucleotide variant not specified [RCV004094665] Chr15:90241948 [GRCh38]
Chr15:90785180 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.466G>A (p.Val156Met) single nucleotide variant not specified [RCV004088490] Chr15:90241374 [GRCh38]
Chr15:90784606 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.195+4C>G single nucleotide variant not provided [RCV002581177] Chr15:90232215 [GRCh38]
Chr15:90775447 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.878G>A (p.Arg293Gln) single nucleotide variant not specified [RCV004193715] Chr15:90241786 [GRCh38]
Chr15:90785018 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.554+13T>C single nucleotide variant not provided [RCV002834279] Chr15:90230921 [GRCh38]
Chr15:90774153 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.466-11C>T single nucleotide variant not provided [RCV002807017] Chr15:90231033 [GRCh38]
Chr15:90774265 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.327T>C (p.His109=) single nucleotide variant not provided [RCV002988730] Chr15:90231376 [GRCh38]
Chr15:90774608 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.87-140G>A single nucleotide variant not provided [RCV003046771] Chr15:90232467 [GRCh38]
Chr15:90775699 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.452A>G (p.Gln151Arg) single nucleotide variant not provided [RCV003027714] Chr15:90231108 [GRCh38]
Chr15:90774340 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.813C>G (p.Ser271Arg) single nucleotide variant not specified [RCV004192234] Chr15:90241721 [GRCh38]
Chr15:90784953 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.566T>C (p.Ile189Thr) single nucleotide variant not specified [RCV004140143] Chr15:90230494 [GRCh38]
Chr15:90773726 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.165C>T (p.Phe55=) single nucleotide variant not provided [RCV002582607] Chr15:90232249 [GRCh38]
Chr15:90775481 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.52-20G>A single nucleotide variant not provided [RCV002634511] Chr15:90233723 [GRCh38]
Chr15:90776955 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.466-12_466-11del microsatellite not provided [RCV002636030] Chr15:90231033..90231034 [GRCh38]
Chr15:90774265..90774266 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.129G>A (p.Arg43=) single nucleotide variant not provided [RCV002584568] Chr15:90232285 [GRCh38]
Chr15:90775517 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.33G>C (p.Glu11Asp) single nucleotide variant not provided [RCV002589284] Chr15:90233853 [GRCh38]
Chr15:90777085 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.87-124G>C single nucleotide variant not provided [RCV002589626] Chr15:90232451 [GRCh38]
Chr15:90775683 [GRCh37]
Chr15:15q26.1		 likely benign
NM_001013657.3(GDPGP1):c.848A>G (p.His283Arg) single nucleotide variant not specified [RCV004255032] Chr15:90241756 [GRCh38]
Chr15:90784988 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.1063G>A (p.Ala355Thr) single nucleotide variant not specified [RCV004280907] Chr15:90241971 [GRCh38]
Chr15:90785203 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3 copy number gain not provided [RCV003222840] Chr15:84228005..102264590 [GRCh37]
Chr15:15q25.2-26.3		 pathogenic
NM_006384.4(CIB1):c.314A>G (p.Asp105Gly) single nucleotide variant not specified [RCV004265779] Chr15:90231389 [GRCh38]
Chr15:90774621 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.283G>A (p.Val95Met) single nucleotide variant not specified [RCV004268203] Chr15:90241191 [GRCh38]
Chr15:90784423 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 copy number gain not provided [RCV003222839] Chr15:67358491..91644328 [GRCh37]
Chr15:15q22.33-26.1		 pathogenic
NM_006384.4(CIB1):c.19C>T (p.Arg7Cys) single nucleotide variant not specified [RCV004267929] Chr15:90233867 [GRCh38]
Chr15:90777099 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.538C>T (p.Arg180Cys) single nucleotide variant not specified [RCV004249312] Chr15:90241446 [GRCh38]
Chr15:90784678 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.859C>T (p.His287Tyr) single nucleotide variant not specified [RCV004326127] Chr15:90241767 [GRCh38]
Chr15:90784999 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 copy number gain See cases [RCV003329502] Chr15:75165490..102520892 [GRCh37]
Chr15:15q24.1-26.3		 pathogenic
NM_001013657.3(GDPGP1):c.824G>A (p.Arg275Gln) single nucleotide variant not specified [RCV004342924] Chr15:90241732 [GRCh38]
Chr15:90784964 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.87-37T>G single nucleotide variant CIB1-related disorder [RCV003419008] Chr15:90232364 [GRCh38]
Chr15:90775596 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.823C>T (p.Arg275Trp) single nucleotide variant not specified [RCV004347010] Chr15:90241731 [GRCh38]
Chr15:90784963 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.3(CIB1):c.-150C>T single nucleotide variant not specified [RCV003490335] Chr15:90234035 [GRCh38]
Chr15:90777267 [GRCh37]
Chr15:15q26.1		 benign
NM_006384.4(CIB1):c.52-49C>G single nucleotide variant not specified [RCV003490357] Chr15:90233752 [GRCh38]
Chr15:90776984 [GRCh37]
Chr15:15q26.1		 benign
NM_006384.4(CIB1):c.52-17C>T single nucleotide variant not provided [RCV003677527] Chr15:90233720 [GRCh38]
Chr15:90776952 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.465+14C>G single nucleotide variant not provided [RCV003579413] Chr15:90231081 [GRCh38]
Chr15:90774313 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.87-141C>T single nucleotide variant not specified [RCV003489260] Chr15:90232468 [GRCh38]
Chr15:90775700 [GRCh37]
Chr15:15q26.1		 benign
NM_006384.4(CIB1):c.555-45G>A single nucleotide variant not specified [RCV003489261] Chr15:90230550 [GRCh38]
Chr15:90773782 [GRCh37]
Chr15:15q26.1		 benign
NM_006384.4(CIB1):c.195+54C>T single nucleotide variant not specified [RCV003489262] Chr15:90232165 [GRCh38]
Chr15:90775397 [GRCh37]
Chr15:15q26.1		 benign
NM_006384.4(CIB1):c.554+127G>A single nucleotide variant not specified [RCV003488909] Chr15:90230807 [GRCh38]
Chr15:90774039 [GRCh37]
Chr15:15q26.1		 benign
NM_006384.4(CIB1):c.513dup (p.Glu172Ter) duplication not provided [RCV003881764] Chr15:90230974..90230975 [GRCh38]
Chr15:90774206..90774207 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.51+7G>C single nucleotide variant not provided [RCV003568828] Chr15:90233828 [GRCh38]
Chr15:90777060 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.86+15G>T single nucleotide variant not provided [RCV003829507] Chr15:90233654 [GRCh38]
Chr15:90776886 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.196-5C>T single nucleotide variant not provided [RCV003693583] Chr15:90231512 [GRCh38]
Chr15:90774744 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.132C>T (p.Ser44=) single nucleotide variant not provided [RCV003715175] Chr15:90232282 [GRCh38]
Chr15:90775514 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.347-17C>G single nucleotide variant not provided [RCV003827878] Chr15:90231230 [GRCh38]
Chr15:90774462 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.381C>T (p.Asp127=) single nucleotide variant not provided [RCV003882425] Chr15:90231179 [GRCh38]
Chr15:90774411 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.6G>A (p.Gly2=) single nucleotide variant not provided [RCV003580895] Chr15:90233880 [GRCh38]
Chr15:90777112 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.347-11C>A single nucleotide variant not provided [RCV003673231] Chr15:90231224 [GRCh38]
Chr15:90774456 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.96G>A (p.Arg32=) single nucleotide variant not provided [RCV003703753] Chr15:90232318 [GRCh38]
Chr15:90775550 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.466-13C>G single nucleotide variant not provided [RCV003839855] Chr15:90231035 [GRCh38]
Chr15:90774267 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.372C>T (p.Asn124=) single nucleotide variant not provided [RCV003548439] Chr15:90231188 [GRCh38]
Chr15:90774420 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.97C>A (p.Arg33=) single nucleotide variant not provided [RCV003685875] Chr15:90232317 [GRCh38]
Chr15:90775549 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.242dup (p.Ala82fs) duplication not provided [RCV003551899] Chr15:90231460..90231461 [GRCh38]
Chr15:90774692..90774693 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_006384.4(CIB1):c.347-6C>T single nucleotide variant not provided [RCV003718998] Chr15:90231219 [GRCh38]
Chr15:90774451 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.237A>G (p.Thr79=) single nucleotide variant not provided [RCV003685059] Chr15:90231466 [GRCh38]
Chr15:90774698 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.87-137G>A single nucleotide variant not provided [RCV003685690] Chr15:90232464 [GRCh38]
Chr15:90775696 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.8del (p.Gly3fs) deletion not provided [RCV003871002] Chr15:90233878 [GRCh38]
Chr15:90777110 [GRCh37]
Chr15:15q26.1		 pathogenic
NM_006384.4(CIB1):c.525C>T (p.His175=) single nucleotide variant not provided [RCV003870355] Chr15:90230963 [GRCh38]
Chr15:90774195 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.87-69A>G single nucleotide variant not provided [RCV003734789] Chr15:90232396 [GRCh38]
Chr15:90775628 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.438G>A (p.Ala146=) single nucleotide variant not provided [RCV003819946] Chr15:90231122 [GRCh38]
Chr15:90774354 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.195+15C>T single nucleotide variant not provided [RCV003823496] Chr15:90232204 [GRCh38]
Chr15:90775436 [GRCh37]
Chr15:15q26.1		 likely benign
NM_001033088.3(NGRN):c.8T>G (p.Val3Gly) single nucleotide variant not specified [RCV004487721] Chr15:90265720 [GRCh38]
Chr15:90808952 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.193A>G (p.Lys65Glu) single nucleotide variant not specified [RCV004441765] Chr15:90232221 [GRCh38]
Chr15:90775453 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.241C>T (p.Pro81Ser) single nucleotide variant not specified [RCV004441766] Chr15:90231462 [GRCh38]
Chr15:90774694 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_006384.4(CIB1):c.346+8C>A single nucleotide variant CIB1-related disorder [RCV003902190] Chr15:90231349 [GRCh38]
Chr15:90774581 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.87-36C>T single nucleotide variant CIB1-related disorder [RCV003933967] Chr15:90232363 [GRCh38]
Chr15:90775595 [GRCh37]
Chr15:15q26.1		 likely benign
NM_006384.4(CIB1):c.465+1G>A single nucleotide variant Epidermodysplasia verruciformis, susceptibility to, 3 [RCV003990538] Chr15:90231094 [GRCh38]
Chr15:90774326 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_001013657.3(GDPGP1):c.53A>G (p.Asn18Ser) single nucleotide variant not specified [RCV004387673] Chr15:90240961 [GRCh38]
Chr15:90784193 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.1114G>A (p.Val372Ile) single nucleotide variant not specified [RCV004387664] Chr15:90242022 [GRCh38]
Chr15:90785254 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.460C>A (p.Leu154Met) single nucleotide variant not specified [RCV004387671] Chr15:90241368 [GRCh38]
Chr15:90784600 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.361C>T (p.Pro121Ser) single nucleotide variant not specified [RCV004387669] Chr15:90241269 [GRCh38]
Chr15:90784501 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.8T>G (p.Leu3Arg) single nucleotide variant not specified [RCV004387675] Chr15:90240916 [GRCh38]
Chr15:90784148 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.304C>T (p.Arg102Cys) single nucleotide variant not specified [RCV004387665] Chr15:90241212 [GRCh38]
Chr15:90784444 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.451G>C (p.Glu151Gln) single nucleotide variant not specified [RCV004387670] Chr15:90241359 [GRCh38]
Chr15:90784591 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.305G>C (p.Arg102Pro) single nucleotide variant not specified [RCV004387666] Chr15:90241213 [GRCh38]
Chr15:90784445 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.356T>C (p.Phe119Ser) single nucleotide variant not specified [RCV004387667] Chr15:90241264 [GRCh38]
Chr15:90784496 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.523C>A (p.Arg175Ser) single nucleotide variant not specified [RCV004387672] Chr15:90241431 [GRCh38]
Chr15:90784663 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.734A>C (p.His245Pro) single nucleotide variant not specified [RCV004387674] Chr15:90241642 [GRCh38]
Chr15:90784874 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.9:g.(?_89379429)_(91312836_?)del deletion Bloom syndrome [RCV004582913]|D-2-hydroxyglutaric aciduria 2 [RCV004582914] Chr15:89379429..91312836 [GRCh37]
Chr15:15q26.1		 pathogenic|uncertain significance
NM_006384.4(CIB1):c.465+1del deletion Susceptibility to severe COVID-19 [RCV004598583] Chr15:90231094 [GRCh38]
Chr15:90774326 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_006384.4(CIB1):c.461del (p.Asp154fs) deletion Susceptibility to severe COVID-19 [RCV004598577] Chr15:90231099 [GRCh38]
Chr15:90774331 [GRCh37]
Chr15:15q26.1		 likely pathogenic
NM_001013657.3(GDPGP1):c.718C>T (p.Pro240Ser) single nucleotide variant not specified [RCV004626878] Chr15:90241626 [GRCh38]
Chr15:90784858 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.986A>G (p.Asn329Ser) single nucleotide variant not specified [RCV004626879] Chr15:90241894 [GRCh38]
Chr15:90785126 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.680G>C (p.Arg227Thr) single nucleotide variant not specified [RCV004626881] Chr15:90241588 [GRCh38]
Chr15:90784820 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001013657.3(GDPGP1):c.523C>G (p.Arg175Gly) single nucleotide variant not specified [RCV004626882] Chr15:90241431 [GRCh38]
Chr15:90784663 [GRCh37]
Chr15:15q26.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:276
Count of miRNA genes:239
Interacting mature miRNAs:258
Transcripts:ENST00000328649
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
407419517GWAS1068493_Hpolyp of colon QTL GWAS1068493 (human)3e-09polyp of colon159025377890253779Human
407255564GWAS904540_Hnose morphology measurement, mouth morphology measurement QTL GWAS904540 (human)0.000003nose morphology measurement, mouth morphology measurementnose measurement (CMO:0003147)159024630190246302Human

Markers in Region
CIB1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371590,774,406 - 90,774,617UniSTSGRCh37
Celera1567,178,785 - 67,178,996UniSTS
HuRef1566,886,395 - 66,886,606UniSTS


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 2252 4971 1726 2351 5 624 1950 465 2269 7300 6467 52 3733 1 851 1743 1616 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001277764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_102427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_102428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA769426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB021866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG231771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG759961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI520476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD622547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY070030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ246073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U82226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U83236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U85611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000328649   ⟹   ENSP00000333873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,229,975 - 90,233,941 (-)Ensembl
Ensembl Acc Id: ENST00000612800   ⟹   ENSP00000479860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,230,246 - 90,234,047 (-)Ensembl
Ensembl Acc Id: ENST00000650306   ⟹   ENSP00000497451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,230,250 - 90,233,960 (-)Ensembl
Ensembl Acc Id: ENST00000695870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,230,006 - 90,233,561 (-)Ensembl
Ensembl Acc Id: ENST00000695871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,230,246 - 90,231,975 (-)Ensembl
Ensembl Acc Id: ENST00000695872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,230,250 - 90,233,917 (-)Ensembl
Ensembl Acc Id: ENST00000695873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,230,957 - 90,233,922 (-)Ensembl
Ensembl Acc Id: ENST00000695874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,231,190 - 90,234,043 (-)Ensembl
Ensembl Acc Id: ENST00000695875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,231,502 - 90,233,709 (-)Ensembl
Ensembl Acc Id: ENST00000695876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,231,959 - 90,233,876 (-)Ensembl
Ensembl Acc Id: ENST00000695877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,233,083 - 90,233,941 (-)Ensembl
RefSeq Acc Id: NM_001277764   ⟹   NP_001264693
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,229,975 - 90,233,941 (-)NCBI
GRCh371590,773,477 - 90,808,991 (-)NCBI
HuRef1566,885,466 - 66,920,950 (-)NCBI
CHM1_11590,615,325 - 90,619,098 (-)NCBI
T2T-CHM13v2.01587,985,982 - 87,989,948 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006384   ⟹   NP_006375
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,229,975 - 90,233,941 (-)NCBI
GRCh371590,773,477 - 90,808,991 (-)NCBI
Build 361588,574,481 - 88,578,168 (-)NCBI Archive
HuRef1566,885,466 - 66,920,950 (-)NCBI
CHM1_11590,615,325 - 90,619,098 (-)NCBI
T2T-CHM13v2.01587,985,982 - 87,989,948 (-)NCBI
Sequence:
RefSeq Acc Id: NR_102427
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,230,245 - 90,234,155 (-)NCBI
GRCh371590,773,477 - 90,808,991 (-)NCBI
HuRef1566,885,466 - 66,920,950 (-)NCBI
CHM1_11590,615,325 - 90,619,206 (-)NCBI
T2T-CHM13v2.01587,986,252 - 87,990,162 (-)NCBI
Sequence:
RefSeq Acc Id: NR_102428
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,230,245 - 90,265,759 (-)NCBI
GRCh371590,773,477 - 90,808,991 (-)NCBI
HuRef1566,885,466 - 66,920,950 (-)NCBI
CHM1_11590,615,325 - 90,650,739 (-)NCBI
T2T-CHM13v2.01587,986,252 - 88,021,749 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006720375   ⟹   XP_006720438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,230,659 - 90,233,941 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054377210   ⟹   XP_054233185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01587,986,658 - 87,989,948 (-)NCBI
RefSeq Acc Id: NP_006375   ⟸   NM_006384
- Peptide Label: isoform b
- UniProtKB: Q96J54 (UniProtKB/Swiss-Prot),   Q6IB49 (UniProtKB/Swiss-Prot),   O00735 (UniProtKB/Swiss-Prot),   O00693 (UniProtKB/Swiss-Prot),   H6WJF3 (UniProtKB/Swiss-Prot),   B5BU40 (UniProtKB/Swiss-Prot),   Q99971 (UniProtKB/Swiss-Prot),   Q99828 (UniProtKB/Swiss-Prot),   A0A140VK09 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001264693   ⟸   NM_001277764
- Peptide Label: isoform a
- UniProtKB: Q99828 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006720438   ⟸   XM_006720375
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000497451   ⟸   ENST00000650306
Ensembl Acc Id: ENSP00000479860   ⟸   ENST00000612800
Ensembl Acc Id: ENSP00000333873   ⟸   ENST00000328649
RefSeq Acc Id: XP_054233185   ⟸   XM_054377210
- Peptide Label: isoform X1
Protein Domains
EF-hand

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q99828-F1-model_v2 AlphaFold Q99828 1-191 view protein structure

Promoters
RGD ID:6816064
Promoter ID:HG_SPT:22276
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:AA034913,   AA045776,   AA076120,   AA099417,   AA133864,   AA143712,   AA157565,   AA158016,   AA158408,   AA158799,   AA159044,   AA159144,   AA159342,   AA161195,   AA181950,   AA281481,   AA399699,   AA457151,   AA487575,   AA505524,   AA552432,   AA613294,   AA614339,   AA708941,   AA709330,   AA737938,   AA740252,   AA761054,   AA769426,   AA826393,   AA838336,   AA844407,   AA860413,   AA863262,   AA906607,   AA928740,   AA931507,   AA938009,   AA974921,   AA987507,   AI041987,   AI075440,   AI088136,   AI088542,   AI094593,   AI095459,   AI096640,   AI131167,   AI151244,   AI159816,   AI160586,   AI184154,   AI190919,   AI191131,   AI200701,   AI200875,   AI201004,   AI204383,   AI223009,   AI285109,   AI299105,   AI313456,   AI333383,   AI339321,   AI344389,   AI432222,   AI432700,   AI439512,   AI571039,   AI673661,   AI708211,   AI811617,   AI826432,   AI830576,   AI857336,   AI858086,   AI870625,   AI884840,   AI906683,   AI913064,   AI934804,   AI950834,   AI952768,   AI952769,   AI963735,   AI991226,   AL542816,   AW006454,   AW014715,   AW026596,   AW050635,   AW050816,   AW084049,   AW190987,   AW207189,   AW263600,   AW263995,   AW271234,   AW276024,   AW328612,   AW375796,   AW473624,   AW517974,   AW519074,   AW579489,   AW579492,   AW601339,   AW662736,   BE172514,   BE173867,   BE617772,   BE620680,   BE621923,   BE858074,   BE858151,   BE905932,   BE965092,   BF438593,   BF448994,   BF476700,   BF939244,   BG014830,   BG055065,   BG057832,   BG231771,   BG745829,   BI084807,   BI085773,   BI520683,   BM310299,   BM662615,   BM969129,   BM979035,   BM983981,   BM985016,   BM990740,   BM995908,   BM999206,   BM999255,   BQ447547,   BQ576313,   BU069776,   BU580472,   BU617272,   BU628418,   BU676416,   BU683847,   BU687267,   BU726331,   BU727170,   BU731593,   BU734210,   BU949765,   BX434351,   BX487401,   BX953190,   CA306279,   CA422307,   CA424369,   CA427895,   CA432364,   CA442068,   CA443194,   CA443331,   CB067483,   CD368634,   CD622545,   CD622546,   CD742765,   EC557036,   FN063389,   H22663,   H52850,   H64398,   N23740,   N30277,   N80571,   T60855,   T64137,   W15368,   W69352
Position:
Human AssemblyChrPosition (strand)Source
Build 361588,575,331 - 88,575,831 (+)MPROMDB
RGD ID:6792176
Promoter ID:HG_KWN:22325
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001013657,   OTTHUMT00000313419
Position:
Human AssemblyChrPosition (strand)Source
Build 361588,577,586 - 88,578,942 (+)MPROMDB
RGD ID:7230509
Promoter ID:EPDNEW_H21001
Type:initiation region
Name:CIB1_1
Description:calcium and integrin binding 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21002  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,233,938 - 90,233,998EPDNEW
RGD ID:7230511
Promoter ID:EPDNEW_H21002
Type:initiation region
Name:CIB1_2
Description:calcium and integrin binding 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21001  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,234,169 - 90,234,229EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16920 AgrOrtholog
COSMIC CIB1 COSMIC
Ensembl Genes ENSG00000185043 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000328649 ENTREZGENE
  ENST00000328649.11 UniProtKB/Swiss-Prot
  ENST00000612800 ENTREZGENE
  ENST00000612800.1 UniProtKB/Swiss-Prot
  ENST00000650306.1 UniProtKB/TrEMBL
Gene3D-CATH EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000185043 GTEx
HGNC ID HGNC:16920 ENTREZGENE
Human Proteome Map CIB1 Human Proteome Map
InterPro CIBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10519 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10519 ENTREZGENE
OMIM 602293 OMIM
PANTHER CALCIUM AND INTEGRIN BINDING FAMILY MEMBER 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CALCIUM AND INTEGRIN-BINDING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EF-hand_1 UniProtKB/TrEMBL
  EF-hand_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38423 PharmGKB
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EFh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VK09 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3ISY8_HUMAN UniProtKB/TrEMBL
  B5BU40 ENTREZGENE
  CIB1_HUMAN UniProtKB/Swiss-Prot
  H6WJF3 ENTREZGENE
  O00693 ENTREZGENE
  O00735 ENTREZGENE
  Q6IB49 ENTREZGENE
  Q96J54 ENTREZGENE
  Q99828 ENTREZGENE
  Q99971 ENTREZGENE
UniProt Secondary B5BU40 UniProtKB/Swiss-Prot
  H6WJF3 UniProtKB/Swiss-Prot
  O00693 UniProtKB/Swiss-Prot
  O00735 UniProtKB/Swiss-Prot
  Q6IB49 UniProtKB/Swiss-Prot
  Q96J54 UniProtKB/Swiss-Prot
  Q99971 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 CIB1  calcium and integrin binding 1    calcium and integrin binding 1 (calmyrin)  Symbol and/or name change 5135510 APPROVED