MCIDAS (multiciliate differentiation and DNA synthesis associated cell cycle protein) - Rat Genome Database

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Gene: MCIDAS (multiciliate differentiation and DNA synthesis associated cell cycle protein) Homo sapiens
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Symbol: MCIDAS
Name: multiciliate differentiation and DNA synthesis associated cell cycle protein
RGD ID: 6771255
HGNC Page HGNC:40050
Description: Enables identical protein binding activity. Involved in several processes, including motile cilium assembly; regulation of DNA-templated DNA replication initiation; and regulation of cilium assembly. Located in nuclear body. Implicated in primary ciliary dyskinesia 42.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CILD42; IDAS; MCI; MCIN; multiciliate cell differentiation 1; multiciliate differentiation and DNA synthesis-associated cell cycle protein; multicilin
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
GRCh38555,219,564 - 55,227,315 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl555,219,564 - 55,227,315 (-)EnsemblGRCh38hg38GRCh38
GRCh37554,515,392 - 54,523,143 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36554,551,411 - 54,559,720 (-)NCBINCBI36Build 36hg18NCBI36
Celera551,468,215 - 51,475,934 (-)NCBICelera
Cytogenetic Map5q11.2NCBI
HuRef551,488,443 - 51,496,162 (-)NCBIHuRef
CHM1_1554,519,283 - 54,527,002 (-)NCBICHM1_1
T2T-CHM13v2.0556,046,854 - 56,054,605 (-)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

Cellular Component
nuclear body  (IDA)
nucleolus  (IDA)
nucleoplasm  (IDA)
nucleus  (IBA,IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal atrial arrangement  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal inferior vena cava morphology  (IAGP)
Abnormal sperm motility  (IAGP)
Abnormal sputum  (IAGP)
Abnormality of the genitourinary system  (IAGP)
Abnormality of the skeletal system  (IAGP)
Airway obstruction  (IAGP)
Anomalous pulmonary venous return  (IAGP)
Asplenia  (IAGP)
Atelectasis  (IAGP)
Atrial situs ambiguous  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bronchiectasis  (IAGP)
Chronic otitis media  (IAGP)
Chronic pulmonary obstruction  (IAGP)
Chronic rhinitis  (IAGP)
Chronic sinusitis  (IAGP)
Clubbing  (IAGP)
Conductive hearing impairment  (IAGP)
Decreased nasal nitric oxide  (IAGP)
Delayed speech and language development  (IAGP)
Double outlet right ventricle  (IAGP)
Ectopic pregnancy  (IAGP)
Female infertility  (IAGP)
Hearing impairment  (IAGP)
Hydrocephalus  (IAGP)
Intestinal malrotation  (IAGP)
Lithoptysis  (IAGP)
Male infertility  (IAGP)
Morphological central nervous system abnormality  (IAGP)
Nasal congestion  (IAGP)
Nasal polyposis  (IAGP)
Neonatal onset  (IAGP)
Neonatal respiratory distress  (IAGP)
Peribronchovascular interstitial thickening  (IAGP)
Persistent left superior vena cava  (IAGP)
Pneumonia  (IAGP)
Polysplenia  (IAGP)
Productive cough  (IAGP)
Pulmonary situs ambiguus  (IAGP)
Recurrent mycobacterial infections  (IAGP)
Recurrent otitis media  (IAGP)
Recurrent sinopulmonary infections  (IAGP)
Recurrent sinusitis  (IAGP)
Reduced forced vital capacity  (IAGP)
Respiratory failure  (IAGP)
Respiratory insufficiency  (IAGP)
Respiratory tract infection  (IAGP)
Rod-cone dystrophy  (IAGP)
Situs inversus totalis  (IAGP)
Transposition of the great arteries  (IAGP)
Ventriculomegaly  (IAGP)
Wheezing  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:20301301   PMID:21543332   PMID:21873635   PMID:22231168   PMID:24064211   PMID:25048963   PMID:27705803   PMID:28514442   PMID:32296183   PMID:32362381   PMID:33961781   PMID:34569065  


Genomics

Comparative Map Data
MCIDAS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38555,219,564 - 55,227,315 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl555,219,564 - 55,227,315 (-)EnsemblGRCh38hg38GRCh38
GRCh37554,515,392 - 54,523,143 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36554,551,411 - 54,559,720 (-)NCBINCBI36Build 36hg18NCBI36
Celera551,468,215 - 51,475,934 (-)NCBICelera
Cytogenetic Map5q11.2NCBI
HuRef551,488,443 - 51,496,162 (-)NCBIHuRef
CHM1_1554,519,283 - 54,527,002 (-)NCBICHM1_1
T2T-CHM13v2.0556,046,854 - 56,054,605 (-)NCBIT2T-CHM13v2.0
Mcidas
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3913113,130,104 - 113,138,233 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl13113,130,379 - 113,136,928 (+)EnsemblGRCm39 Ensembl
GRCm3813112,993,581 - 113,000,394 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl13112,993,845 - 113,000,394 (+)EnsemblGRCm38mm10GRCm38
MGSCv3713113,784,076 - 113,790,602 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3613114,114,746 - 114,121,272 (+)NCBIMGSCv36mm8
Celera13117,311,043 - 117,317,582 (+)NCBICelera
Cytogenetic Map13D2.2NCBI
cM Map1363.93NCBI
Mcidas
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8246,370,017 - 46,377,747 (+)NCBIGRCr8
mRatBN7.2244,636,820 - 44,644,551 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl244,636,856 - 44,642,601 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0244,863,246 - 44,869,732 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl244,863,252 - 44,870,536 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0263,902,057 - 63,908,469 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4244,384,186 - 44,390,539 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera240,410,207 - 40,417,348 (+)NCBICelera
Cytogenetic Map2q14NCBI
Mcidas
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544612,438,737 - 12,445,254 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544612,438,737 - 12,445,254 (+)NCBIChiLan1.0ChiLan1.0
MCIDAS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2458,713,473 - 58,721,891 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1556,867,103 - 56,875,521 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0558,802,664 - 58,811,075 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1560,425,341 - 60,433,035 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl560,425,341 - 60,433,035 (+)Ensemblpanpan1.1panPan2
MCIDAS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1242,577,028 - 42,583,120 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl242,577,039 - 42,583,011 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha239,620,953 - 39,628,779 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0243,038,903 - 43,046,722 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl243,040,133 - 43,046,722 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1240,117,516 - 40,125,325 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0240,919,280 - 40,927,087 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0241,742,233 - 41,750,038 (-)NCBIUU_Cfam_GSD_1.0
Mcidas
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213203,597,126 - 203,603,667 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648012,533,713 - 12,539,387 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648012,533,604 - 12,539,639 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MCIDAS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1634,376,959 - 34,384,453 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11634,377,130 - 34,386,095 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21636,422,904 - 36,425,070 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MCIDAS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1451,454,155 - 51,464,823 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl451,455,506 - 51,462,302 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666049322,285 - 331,786 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mcidas
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247594,038,732 - 4,045,351 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247594,038,668 - 4,045,607 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MCIDAS
172 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001190787.3(MCIDAS):c.14G>A (p.Gly5Glu) single nucleotide variant Primary ciliary dyskinesia [RCV001907806] Chr5:55227125 [GRCh38]
Chr5:54522953 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.218-13_218-6dup duplication Ciliary dyskinesia, primary, 42 [RCV002490935]|MCIDAS-related disorder [RCV003935393]|Primary ciliary dyskinesia [RCV000549202] Chr5:55226672..55226673 [GRCh38]
Chr5:54522500..54522501 [GRCh37]
Chr5:5q11.2
likely benign
GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1 copy number loss See cases [RCV000050797] Chr5:50288355..63149770 [GRCh38]
Chr5:49584189..62445597 [GRCh37]
Chr5:49619946..62481353 [NCBI36]
Chr5:5q11.1-12.1
pathogenic
GRCh38/hg38 5q11.1-11.2(chr5:50288355-56717370)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051838]|See cases [RCV000051838] Chr5:50288355..56717370 [GRCh38]
Chr5:49584189..56013197 [GRCh37]
Chr5:49619946..56048954 [NCBI36]
Chr5:5q11.1-11.2
pathogenic
GRCh38/hg38 5q11.2(chr5:53332485-57152396)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053283]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053283]|See cases [RCV000053283] Chr5:53332485..57152396 [GRCh38]
Chr5:52628315..56448223 [GRCh37]
Chr5:52664072..56483980 [NCBI36]
Chr5:5q11.2
uncertain significance
GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1 copy number loss See cases [RCV000053451] Chr5:50462100..55862985 [GRCh38]
Chr5:49757934..55158813 [GRCh37]
Chr5:49793691..55194570 [NCBI36]
Chr5:5q11.1-11.2
pathogenic
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1
pathogenic
GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3 copy number gain See cases [RCV000138021] Chr5:45566861..56506493 [GRCh38]
Chr5:45566963..55802320 [GRCh37]
Chr5:45602720..55838077 [NCBI36]
Chr5:5p12-q11.2
uncertain significance
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3
pathogenic
GRCh38/hg38 5q11.2(chr5:55028257-55939697)x3 copy number gain See cases [RCV000139251] Chr5:55028257..55939697 [GRCh38]
Chr5:54324085..55235525 [GRCh37]
Chr5:54359842..55271282 [NCBI36]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.441C>A (p.Cys147Ter) single nucleotide variant Ciliary dyskinesia, primary, 42 [RCV000983977] Chr5:55222341 [GRCh38]
Chr5:54518169 [GRCh37]
Chr5:5q11.2
pathogenic
NM_001190787.3(MCIDAS):c.1097G>A (p.Gly366Asp) single nucleotide variant Ciliary dyskinesia, primary, 42 [RCV000983979] Chr5:55220427 [GRCh38]
Chr5:54516255 [GRCh37]
Chr5:5q11.2
pathogenic
NM_001190787.3(MCIDAS):c.1142G>A (p.Arg381His) single nucleotide variant Ciliary dyskinesia, primary, 42 [RCV000983978]|Primary ciliary dyskinesia [RCV001852538] Chr5:55220382 [GRCh38]
Chr5:54516210 [GRCh37]
Chr5:5q11.2
pathogenic|likely pathogenic|uncertain significance
NM_001190787.3(MCIDAS):c.856G>A (p.Glu286Lys) single nucleotide variant MCIDAS-related disorder [RCV003929950]|Primary ciliary dyskinesia [RCV000229563]|not provided [RCV004705058] Chr5:55220668 [GRCh38]
Chr5:54516496 [GRCh37]
Chr5:5q11.2
benign|likely benign|uncertain significance
NM_001190787.3(MCIDAS):c.739C>T (p.Arg247Trp) single nucleotide variant Primary ciliary dyskinesia [RCV000231891]|not specified [RCV000238760] Chr5:55220785 [GRCh38]
Chr5:54516613 [GRCh37]
Chr5:5q11.2
likely benign|uncertain significance
NM_001190787.3(MCIDAS):c.120+3G>A single nucleotide variant Ciliary dyskinesia, primary, 42 [RCV002272187]|Primary ciliary dyskinesia [RCV000232005]|not provided [RCV003430780] Chr5:55227016 [GRCh38]
Chr5:54522844 [GRCh37]
Chr5:5q11.2
benign|likely benign|uncertain significance
NM_001190787.3(MCIDAS):c.638A>G (p.Glu213Gly) single nucleotide variant Primary ciliary dyskinesia [RCV000229108] Chr5:55221095 [GRCh38]
Chr5:54516923 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.234C>T (p.Asp78=) single nucleotide variant Primary ciliary dyskinesia [RCV000233658]|not provided [RCV004706674] Chr5:55226651 [GRCh38]
Chr5:54522479 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.1062C>T (p.Ser354=) single nucleotide variant Primary ciliary dyskinesia [RCV000228100]|not provided [RCV004705057] Chr5:55220462 [GRCh38]
Chr5:54516290 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.821G>A (p.Gly274Glu) single nucleotide variant Ciliary dyskinesia, primary, 42 [RCV003114396]|Inborn genetic diseases [RCV002516314]|Primary ciliary dyskinesia [RCV000226791] Chr5:55220703 [GRCh38]
Chr5:54516531 [GRCh37]
Chr5:5q11.2
benign|likely benign|uncertain significance
NM_001190787.3(MCIDAS):c.774C>T (p.Leu258=) single nucleotide variant Primary ciliary dyskinesia [RCV002060288]|not provided [RCV004716517] Chr5:55220750 [GRCh38]
Chr5:54516578 [GRCh37]
Chr5:5q11.2
benign
NM_001190787.3(MCIDAS):c.643G>T (p.Ala215Ser) single nucleotide variant Primary ciliary dyskinesia [RCV000629402] Chr5:55221090 [GRCh38]
Chr5:54516918 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.489G>A (p.Arg163=) single nucleotide variant Primary ciliary dyskinesia [RCV000629589] Chr5:55222293 [GRCh38]
Chr5:54518121 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.162G>T (p.Gly54=) single nucleotide variant Ciliary dyskinesia, primary, 42 [RCV003758807]|Primary ciliary dyskinesia [RCV000534409] Chr5:55226890 [GRCh38]
Chr5:54522718 [GRCh37]
Chr5:5q11.2
benign|likely benign|uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q11.2(chr5:53784524-54985838) copy number loss Abnormal esophagus morphology [RCV000416715] Chr5:53784524..54985838 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.1032G>A (p.Glu344=) single nucleotide variant Primary ciliary dyskinesia [RCV001402299] Chr5:55220492 [GRCh38]
Chr5:54516320 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.144C>T (p.Phe48=) single nucleotide variant Primary ciliary dyskinesia [RCV000475940] Chr5:55226908 [GRCh38]
Chr5:54522736 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.831C>T (p.Cys277=) single nucleotide variant Ciliary dyskinesia, primary, 42 [RCV001775795]|Primary ciliary dyskinesia [RCV001516801]|not provided [RCV001613275]|not specified [RCV000455547] Chr5:55220693 [GRCh38]
Chr5:54516521 [GRCh37]
Chr5:5q11.2
benign
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_001190787.3(MCIDAS):c.828T>C (p.Asp276=) single nucleotide variant Primary ciliary dyskinesia [RCV000541969]|not provided [RCV004716518] Chr5:55220696 [GRCh38]
Chr5:54516524 [GRCh37]
Chr5:5q11.2
benign
NM_001190787.3(MCIDAS):c.401C>T (p.Ser134Leu) single nucleotide variant Inborn genetic diseases [RCV003279416] Chr5:55222381 [GRCh38]
Chr5:54518209 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.303C>G (p.Ala101=) single nucleotide variant Primary ciliary dyskinesia [RCV000537622] Chr5:55226582 [GRCh38]
Chr5:54522410 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.1050C>G (p.Thr350=) single nucleotide variant MCIDAS-related disorder [RCV003945580]|Primary ciliary dyskinesia [RCV000629621] Chr5:55220474 [GRCh38]
Chr5:54516302 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.665T>A (p.Val222Glu) single nucleotide variant Inborn genetic diseases [RCV003282373] Chr5:55221068 [GRCh38]
Chr5:54516896 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.277G>C (p.Ala93Pro) single nucleotide variant Primary ciliary dyskinesia [RCV000559309]|not provided [RCV004691837] Chr5:55226608 [GRCh38]
Chr5:54522436 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.707C>G (p.Ser236Trp) single nucleotide variant Inborn genetic diseases [RCV003267856] Chr5:55221026 [GRCh38]
Chr5:54516854 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.474G>A (p.Pro158=) single nucleotide variant MCIDAS-related disorder [RCV004755949]|Primary ciliary dyskinesia [RCV000548992] Chr5:55222308 [GRCh38]
Chr5:54518136 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.123C>T (p.Phe41=) single nucleotide variant Primary ciliary dyskinesia [RCV000629632] Chr5:55226929 [GRCh38]
Chr5:54522757 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.93C>G (p.Leu31=) single nucleotide variant MCIDAS-related disorder [RCV003935747]|Primary ciliary dyskinesia [RCV000629646] Chr5:55227046 [GRCh38]
Chr5:54522874 [GRCh37]
Chr5:5q11.2
benign|likely benign
NM_001190787.3(MCIDAS):c.135del (p.Lys46fs) deletion Primary ciliary dyskinesia [RCV000685117] Chr5:55226917 [GRCh38]
Chr5:54522745 [GRCh37]
Chr5:5q11.2
pathogenic
NM_001190787.3(MCIDAS):c.1054A>C (p.Ile352Leu) single nucleotide variant Primary ciliary dyskinesia [RCV000697566] Chr5:55220470 [GRCh38]
Chr5:54516298 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.1076G>T (p.Arg359Leu) single nucleotide variant Primary ciliary dyskinesia [RCV000701170] Chr5:55220448 [GRCh38]
Chr5:54516276 [GRCh37]
Chr5:5q11.2
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_001190787.3(MCIDAS):c.1004T>A (p.Leu335Ter) single nucleotide variant Primary ciliary dyskinesia [RCV001044059] Chr5:55220520 [GRCh38]
Chr5:54516348 [GRCh37]
Chr5:5q11.2
pathogenic|likely pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_001190787.3(MCIDAS):c.750G>A (p.Gly250=) single nucleotide variant Primary ciliary dyskinesia [RCV001419263]|not provided [RCV004707428] Chr5:55220774 [GRCh38]
Chr5:54516602 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.228C>T (p.Thr76=) single nucleotide variant Primary ciliary dyskinesia [RCV001406820] Chr5:55226657 [GRCh38]
Chr5:54522485 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.219C>G (p.Ala73=) single nucleotide variant Primary ciliary dyskinesia [RCV000867064] Chr5:55226666 [GRCh38]
Chr5:54522494 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.57C>T (p.Pro19=) single nucleotide variant Primary ciliary dyskinesia [RCV000867116] Chr5:55227082 [GRCh38]
Chr5:54522910 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.78G>A (p.Pro26=) single nucleotide variant Primary ciliary dyskinesia [RCV001047589] Chr5:55227061 [GRCh38]
Chr5:54522889 [GRCh37]
Chr5:5q11.2
likely benign|uncertain significance
NM_001190787.3(MCIDAS):c.121-7C>T single nucleotide variant Primary ciliary dyskinesia [RCV002064493] Chr5:55226938 [GRCh38]
Chr5:54522766 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.24G>A (p.Ala8=) single nucleotide variant Primary ciliary dyskinesia [RCV003537323] Chr5:55227115 [GRCh38]
Chr5:54522943 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.301G>T (p.Ala101Ser) single nucleotide variant Primary ciliary dyskinesia [RCV000801213] Chr5:55226584 [GRCh38]
Chr5:54522412 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.475C>G (p.Pro159Ala) single nucleotide variant Primary ciliary dyskinesia [RCV000818511] Chr5:55222307 [GRCh38]
Chr5:54518135 [GRCh37]
Chr5:5q11.2
uncertain significance
NC_000005.9:g.53180658_54552379dup duplication Neurodevelopmental disorder [RCV000787438] Chr5:53180658..54552379 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.364G>C (p.Val122Leu) single nucleotide variant Inborn genetic diseases [RCV002535940]|Primary ciliary dyskinesia [RCV000822072] Chr5:55222969 [GRCh38]
Chr5:54518797 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.893G>A (p.Arg298His) single nucleotide variant Primary ciliary dyskinesia [RCV001426102] Chr5:55220631 [GRCh38]
Chr5:54516459 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.625C>T (p.Gln209Ter) single nucleotide variant Primary ciliary dyskinesia [RCV001202944] Chr5:55221108 [GRCh38]
Chr5:54516936 [GRCh37]
Chr5:5q11.2
pathogenic
NM_001190787.3(MCIDAS):c.8C>A (p.Ala3Glu) single nucleotide variant Primary ciliary dyskinesia [RCV001229921] Chr5:55227131 [GRCh38]
Chr5:54522959 [GRCh37]
Chr5:5q11.2
uncertain significance
NC_000005.9:g.(?_52285299)_(56189507_?)del deletion not provided [RCV003107599] Chr5:52285299..56189507 [GRCh37]
Chr5:5q11.2
pathogenic
NC_000005.10:g.55227577C>G single nucleotide variant not provided [RCV001716331] Chr5:55227577 [GRCh38]
Chr5:54523405 [GRCh37]
Chr5:5q11.2
benign
NM_001190787.3(MCIDAS):c.382+119C>T single nucleotide variant not provided [RCV001677097] Chr5:55222832 [GRCh38]
Chr5:54518660 [GRCh37]
Chr5:5q11.2
benign
NM_001190787.3(MCIDAS):c.717+2T>G single nucleotide variant Ciliary dyskinesia, primary, 42 [RCV000983980] Chr5:55221014 [GRCh38]
Chr5:54516842 [GRCh37]
Chr5:5q11.2
pathogenic
NM_001190787.3(MCIDAS):c.666G>A (p.Val222=) single nucleotide variant not provided [RCV000917875] Chr5:55221067 [GRCh38]
Chr5:54516895 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.1003T>C (p.Leu335=) single nucleotide variant not provided [RCV000888981] Chr5:55220521 [GRCh38]
Chr5:54516349 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.1040C>T (p.Ser347Phe) single nucleotide variant Ciliary dyskinesia, primary, 42 [RCV003132271]|Inborn genetic diseases [RCV002561697]|Primary ciliary dyskinesia [RCV001208741] Chr5:55220484 [GRCh38]
Chr5:54516312 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.275A>C (p.Asp92Ala) single nucleotide variant Primary ciliary dyskinesia [RCV001241097] Chr5:55226610 [GRCh38]
Chr5:54522438 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.446T>C (p.Ile149Thr) single nucleotide variant Primary ciliary dyskinesia 3 [RCV003234815] Chr5:55222336 [GRCh38]
Chr5:54518164 [GRCh37]
Chr5:5q11.2
pathogenic
NM_001190787.3(MCIDAS):c.606+169G>C single nucleotide variant not provided [RCV001695970] Chr5:55222007 [GRCh38]
Chr5:54517835 [GRCh37]
Chr5:5q11.2
benign
NM_001190787.3(MCIDAS):c.607-157dup duplication not provided [RCV001655504] Chr5:55221274..55221275 [GRCh38]
Chr5:54517102..54517103 [GRCh37]
Chr5:5q11.2
benign
NM_001190787.3(MCIDAS):c.*136T>A single nucleotide variant not provided [RCV001595866] Chr5:55220230 [GRCh38]
Chr5:54516058 [GRCh37]
Chr5:5q11.2
benign
NM_001190787.3(MCIDAS):c.1154G>T (p.Ser385Ile) single nucleotide variant Primary ciliary dyskinesia [RCV001071918] Chr5:55220370 [GRCh38]
Chr5:54516198 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.38C>A (p.Ala13Asp) single nucleotide variant Primary ciliary dyskinesia [RCV001069547] Chr5:55227101 [GRCh38]
Chr5:54522929 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.382+92A>G single nucleotide variant not provided [RCV001648308] Chr5:55222859 [GRCh38]
Chr5:54518687 [GRCh37]
Chr5:5q11.2
benign
NC_000005.10:g.55227592A>G single nucleotide variant not provided [RCV001670689] Chr5:55227592 [GRCh38]
Chr5:54523420 [GRCh37]
Chr5:5q11.2
benign
NM_001190787.3(MCIDAS):c.1085C>T (p.Ala362Val) single nucleotide variant Primary ciliary dyskinesia [RCV001234651]|not provided [RCV004768954] Chr5:55220439 [GRCh38]
Chr5:54516267 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.165C>G (p.Ser55Arg) single nucleotide variant Primary ciliary dyskinesia [RCV001297938] Chr5:55226887 [GRCh38]
Chr5:54522715 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.59A>G (p.Asn20Ser) single nucleotide variant Primary ciliary dyskinesia [RCV001350611] Chr5:55227080 [GRCh38]
Chr5:54522908 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.8C>T (p.Ala3Val) single nucleotide variant Primary ciliary dyskinesia [RCV001308429] Chr5:55227131 [GRCh38]
Chr5:54522959 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.512G>C (p.Arg171Pro) single nucleotide variant Primary ciliary dyskinesia [RCV001306591] Chr5:55222270 [GRCh38]
Chr5:54518098 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.682G>T (p.Ala228Ser) single nucleotide variant Primary ciliary dyskinesia [RCV001364041] Chr5:55221051 [GRCh38]
Chr5:54516879 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.1001C>G (p.Ala334Gly) single nucleotide variant Primary ciliary dyskinesia [RCV001338355] Chr5:55220523 [GRCh38]
Chr5:54516351 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.964G>A (p.Ala322Thr) single nucleotide variant Inborn genetic diseases [RCV002543141]|Primary ciliary dyskinesia [RCV001305795] Chr5:55220560 [GRCh38]
Chr5:54516388 [GRCh37]
Chr5:5q11.2
likely benign|uncertain significance
NM_001190787.3(MCIDAS):c.576G>A (p.Ala192=) single nucleotide variant Primary ciliary dyskinesia [RCV001462482] Chr5:55222206 [GRCh38]
Chr5:54518034 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.*8T>C single nucleotide variant not provided [RCV001708971] Chr5:55220358 [GRCh38]
Chr5:54516186 [GRCh37]
Chr5:5q11.2
benign
NM_001190787.3(MCIDAS):c.717+92G>C single nucleotide variant not provided [RCV001684972] Chr5:55220924 [GRCh38]
Chr5:54516752 [GRCh37]
Chr5:5q11.2
benign
NM_001190787.3(MCIDAS):c.930G>A (p.Ala310=) single nucleotide variant Primary ciliary dyskinesia [RCV001471602] Chr5:55220594 [GRCh38]
Chr5:54516422 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.210G>A (p.Ala70=) single nucleotide variant Primary ciliary dyskinesia [RCV001467029] Chr5:55226842 [GRCh38]
Chr5:54522670 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.577T>C (p.Leu193=) single nucleotide variant Primary ciliary dyskinesia [RCV001438522] Chr5:55222205 [GRCh38]
Chr5:54518033 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.218-15G>C single nucleotide variant Primary ciliary dyskinesia [RCV003108841] Chr5:55226682 [GRCh38]
Chr5:54522510 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.326C>T (p.Thr109Met) single nucleotide variant Primary ciliary dyskinesia [RCV001984391] Chr5:55223007 [GRCh38]
Chr5:54518835 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.84G>T (p.Arg28=) single nucleotide variant Primary ciliary dyskinesia [RCV001945272] Chr5:55227055 [GRCh38]
Chr5:54522883 [GRCh37]
Chr5:5q11.2
likely benign|uncertain significance
NM_001190787.3(MCIDAS):c.139T>C (p.Phe47Leu) single nucleotide variant Primary ciliary dyskinesia [RCV001927680] Chr5:55226913 [GRCh38]
Chr5:54522741 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.155C>T (p.Thr52Ile) single nucleotide variant Inborn genetic diseases [RCV004641718]|Primary ciliary dyskinesia [RCV001937448] Chr5:55226897 [GRCh38]
Chr5:54522725 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.1151C>A (p.Pro384His) single nucleotide variant Primary ciliary dyskinesia [RCV002011007] Chr5:55220373 [GRCh38]
Chr5:54516201 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.235del (p.Leu79fs) deletion Primary ciliary dyskinesia [RCV001922645] Chr5:55226650 [GRCh38]
Chr5:54522478 [GRCh37]
Chr5:5q11.2
pathogenic
NC_000005.9:g.(?_54518759)_(54518871_?)del deletion Primary ciliary dyskinesia [RCV001980216] Chr5:54518759..54518871 [GRCh37]
Chr5:5q11.2
pathogenic
NM_001190787.3(MCIDAS):c.422A>G (p.Asp141Gly) single nucleotide variant Primary ciliary dyskinesia [RCV001951953] Chr5:55222360 [GRCh38]
Chr5:54518188 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.604C>G (p.Gln202Glu) single nucleotide variant Primary ciliary dyskinesia [RCV002027154] Chr5:55222178 [GRCh38]
Chr5:54518006 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.86C>A (p.Ala29Glu) single nucleotide variant Primary ciliary dyskinesia [RCV001879273] Chr5:55227053 [GRCh38]
Chr5:54522881 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.606+20G>A single nucleotide variant Primary ciliary dyskinesia [RCV002087816] Chr5:55222156 [GRCh38]
Chr5:54517984 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.218-16C>G single nucleotide variant Primary ciliary dyskinesia [RCV002108896] Chr5:55226683 [GRCh38]
Chr5:54522511 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.102G>C (p.Pro34=) single nucleotide variant Primary ciliary dyskinesia [RCV002167767] Chr5:55227037 [GRCh38]
Chr5:54522865 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.21C>G (p.Gly7=) single nucleotide variant Primary ciliary dyskinesia [RCV002191098] Chr5:55227118 [GRCh38]
Chr5:54522946 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.1047C>T (p.Ser349=) single nucleotide variant Primary ciliary dyskinesia [RCV002151425] Chr5:55220477 [GRCh38]
Chr5:54516305 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.121-19C>A single nucleotide variant Ciliary dyskinesia, primary, 42 [RCV003120811]|Primary ciliary dyskinesia [RCV002080784] Chr5:55226950 [GRCh38]
Chr5:54522778 [GRCh37]
Chr5:5q11.2
benign|uncertain significance
NM_001190787.3(MCIDAS):c.606+17G>A single nucleotide variant Primary ciliary dyskinesia [RCV002197380]|not provided [RCV004706292] Chr5:55222159 [GRCh38]
Chr5:54517987 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.717+16G>A single nucleotide variant Primary ciliary dyskinesia [RCV002092648] Chr5:55221000 [GRCh38]
Chr5:54516828 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.618A>G (p.Thr206=) single nucleotide variant Primary ciliary dyskinesia [RCV002113990] Chr5:55221115 [GRCh38]
Chr5:54516943 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.450A>G (p.Ser150=) single nucleotide variant Primary ciliary dyskinesia [RCV002220061] Chr5:55222332 [GRCh38]
Chr5:54518160 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.739C>A (p.Arg247=) single nucleotide variant Primary ciliary dyskinesia [RCV002135509] Chr5:55220785 [GRCh38]
Chr5:54516613 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.882C>T (p.Ala294=) single nucleotide variant Primary ciliary dyskinesia [RCV002122026] Chr5:55220642 [GRCh38]
Chr5:54516470 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.72A>T (p.Ala24=) single nucleotide variant Primary ciliary dyskinesia [RCV002083310] Chr5:55227067 [GRCh38]
Chr5:54522895 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.717+13C>T single nucleotide variant Primary ciliary dyskinesia [RCV002123120] Chr5:55221003 [GRCh38]
Chr5:54516831 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.156A>G (p.Thr52=) single nucleotide variant Primary ciliary dyskinesia [RCV003117307] Chr5:55226896 [GRCh38]
Chr5:54522724 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.120+2dup duplication Ciliary dyskinesia, primary, 42 [RCV003120334] Chr5:55227016..55227017 [GRCh38]
Chr5:54522844..54522845 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.849C>G (p.Ile283Met) single nucleotide variant Inborn genetic diseases [RCV003295692] Chr5:55220675 [GRCh38]
Chr5:54516503 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.382+18G>T single nucleotide variant Primary ciliary dyskinesia [RCV003035013] Chr5:55222933 [GRCh38]
Chr5:54518761 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.740G>A (p.Arg247Gln) single nucleotide variant Inborn genetic diseases [RCV002732480] Chr5:55220784 [GRCh38]
Chr5:54516612 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.306G>T (p.Ser102=) single nucleotide variant Primary ciliary dyskinesia [RCV003033176] Chr5:55226579 [GRCh38]
Chr5:54522407 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.690A>C (p.Arg230=) single nucleotide variant Primary ciliary dyskinesia [RCV002740077] Chr5:55221043 [GRCh38]
Chr5:54516871 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.662_678del (p.Asn221fs) deletion Primary ciliary dyskinesia [RCV003002805] Chr5:55221055..55221071 [GRCh38]
Chr5:54516883..54516899 [GRCh37]
Chr5:5q11.2
pathogenic
NM_001190787.3(MCIDAS):c.558G>A (p.Ala186=) single nucleotide variant Primary ciliary dyskinesia [RCV002638195] Chr5:55222224 [GRCh38]
Chr5:54518052 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.187C>A (p.Pro63Thr) single nucleotide variant Inborn genetic diseases [RCV002868527] Chr5:55226865 [GRCh38]
Chr5:54522693 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.607-13T>G single nucleotide variant Primary ciliary dyskinesia [RCV002979026] Chr5:55221139 [GRCh38]
Chr5:54516967 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.268G>A (p.Gly90Arg) single nucleotide variant Primary ciliary dyskinesia [RCV003079972] Chr5:55226617 [GRCh38]
Chr5:54522445 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.609G>A (p.Leu203=) single nucleotide variant Primary ciliary dyskinesia [RCV003054146] Chr5:55221124 [GRCh38]
Chr5:54516952 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.56C>G (p.Pro19Arg) single nucleotide variant Inborn genetic diseases [RCV002910276] Chr5:55227083 [GRCh38]
Chr5:54522911 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.300C>T (p.Ala100=) single nucleotide variant Primary ciliary dyskinesia [RCV002885647] Chr5:55226585 [GRCh38]
Chr5:54522413 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.550G>A (p.Glu184Lys) single nucleotide variant Primary ciliary dyskinesia [RCV002705782] Chr5:55222232 [GRCh38]
Chr5:54518060 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.102G>A (p.Pro34=) single nucleotide variant Primary ciliary dyskinesia [RCV002886308] Chr5:55227037 [GRCh38]
Chr5:54522865 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.226A>G (p.Thr76Ala) single nucleotide variant Primary ciliary dyskinesia [RCV003079578] Chr5:55226659 [GRCh38]
Chr5:54522487 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.845C>G (p.Ala282Gly) single nucleotide variant Inborn genetic diseases [RCV002910469] Chr5:55220679 [GRCh38]
Chr5:54516507 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.120+8G>C single nucleotide variant Primary ciliary dyskinesia [RCV002636994] Chr5:55227011 [GRCh38]
Chr5:54522839 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.167C>T (p.Pro56Leu) single nucleotide variant Primary ciliary dyskinesia [RCV003058711] Chr5:55226885 [GRCh38]
Chr5:54522713 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.1091C>G (p.Pro364Arg) single nucleotide variant Primary ciliary dyskinesia [RCV002959125] Chr5:55220433 [GRCh38]
Chr5:54516261 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.109C>G (p.Pro37Ala) single nucleotide variant Primary ciliary dyskinesia [RCV002895099] Chr5:55227030 [GRCh38]
Chr5:54522858 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.150A>G (p.Gly50=) single nucleotide variant Primary ciliary dyskinesia [RCV002852552] Chr5:55226902 [GRCh38]
Chr5:54522730 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.606+16T>G single nucleotide variant Primary ciliary dyskinesia [RCV002800945] Chr5:55222160 [GRCh38]
Chr5:54517988 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.607-1G>T single nucleotide variant Primary ciliary dyskinesia [RCV004798962] Chr5:55221127 [GRCh38]
Chr5:54516955 [GRCh37]
Chr5:5q11.2
pathogenic
NM_001190787.3(MCIDAS):c.182A>G (p.Glu61Gly) single nucleotide variant Inborn genetic diseases [RCV002699318] Chr5:55226870 [GRCh38]
Chr5:54522698 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.383-14C>T single nucleotide variant Primary ciliary dyskinesia [RCV002851218] Chr5:55222413 [GRCh38]
Chr5:54518241 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.324A>G (p.Gln108=) single nucleotide variant Primary ciliary dyskinesia [RCV003058367] Chr5:55223009 [GRCh38]
Chr5:54518837 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.1117A>G (p.Thr373Ala) single nucleotide variant Inborn genetic diseases [RCV002931215] Chr5:55220407 [GRCh38]
Chr5:54516235 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.567C>A (p.Asn189Lys) single nucleotide variant Inborn genetic diseases [RCV002644683] Chr5:55222215 [GRCh38]
Chr5:54518043 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.365T>C (p.Val122Ala) single nucleotide variant Inborn genetic diseases [RCV002743154] Chr5:55222968 [GRCh38]
Chr5:54518796 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.42C>T (p.Phe14=) single nucleotide variant Primary ciliary dyskinesia [RCV002899808] Chr5:55227097 [GRCh38]
Chr5:54522925 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.309+7C>G single nucleotide variant Primary ciliary dyskinesia [RCV002746587] Chr5:55226569 [GRCh38]
Chr5:54522397 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.382+7G>A single nucleotide variant Primary ciliary dyskinesia [RCV002633026] Chr5:55222944 [GRCh38]
Chr5:54518772 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.453A>C (p.Pro151=) single nucleotide variant Primary ciliary dyskinesia [RCV003009204] Chr5:55222329 [GRCh38]
Chr5:54518157 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.149del (p.Gly50fs) deletion Primary ciliary dyskinesia [RCV002791906] Chr5:55226903 [GRCh38]
Chr5:54522731 [GRCh37]
Chr5:5q11.2
pathogenic
NM_001190787.3(MCIDAS):c.345G>A (p.Leu115=) single nucleotide variant Primary ciliary dyskinesia [RCV002630198] Chr5:55222988 [GRCh38]
Chr5:54518816 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.68T>C (p.Leu23Pro) single nucleotide variant Primary ciliary dyskinesia [RCV002988726] Chr5:55227071 [GRCh38]
Chr5:54522899 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.295C>T (p.Leu99=) single nucleotide variant Primary ciliary dyskinesia [RCV002716999] Chr5:55226590 [GRCh38]
Chr5:54522418 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.255C>T (p.Cys85=) single nucleotide variant Primary ciliary dyskinesia [RCV003068150] Chr5:55226630 [GRCh38]
Chr5:54522458 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.297G>A (p.Leu99=) single nucleotide variant Primary ciliary dyskinesia [RCV003068069] Chr5:55226588 [GRCh38]
Chr5:54522416 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.950G>A (p.Gly317Glu) single nucleotide variant Primary ciliary dyskinesia [RCV002635420] Chr5:55220574 [GRCh38]
Chr5:54516402 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.521A>G (p.Asp174Gly) single nucleotide variant Primary ciliary dyskinesia [RCV002635718] Chr5:55222261 [GRCh38]
Chr5:54518089 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.1137G>C (p.Lys379Asn) single nucleotide variant Inborn genetic diseases [RCV003199020] Chr5:55220387 [GRCh38]
Chr5:54516215 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.793A>C (p.Ser265Arg) single nucleotide variant Inborn genetic diseases [RCV003209790] Chr5:55220731 [GRCh38]
Chr5:54516559 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.382G>A (p.Asp128Asn) single nucleotide variant Ciliary dyskinesia, primary, 42 [RCV003338068] Chr5:55222951 [GRCh38]
Chr5:54518779 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.941C>A (p.Thr314Asn) single nucleotide variant Inborn genetic diseases [RCV003361524] Chr5:55220583 [GRCh38]
Chr5:54516411 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.229A>G (p.Ile77Val) single nucleotide variant MCIDAS-related disorder [RCV003410861] Chr5:55226656 [GRCh38]
Chr5:54522484 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.309+8C>T single nucleotide variant Primary ciliary dyskinesia [RCV003653961] Chr5:55226568 [GRCh38]
Chr5:54522396 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.217+3G>A single nucleotide variant Primary ciliary dyskinesia [RCV003650128] Chr5:55226832 [GRCh38]
Chr5:54522660 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.501del (p.Pro168fs) deletion Ciliary dyskinesia, primary, 42 [RCV003493236] Chr5:55222281 [GRCh38]
Chr5:54518109 [GRCh37]
Chr5:5q11.2
likely pathogenic
NM_001190787.3(MCIDAS):c.218-7C>A single nucleotide variant Primary ciliary dyskinesia [RCV003880306] Chr5:55226674 [GRCh38]
Chr5:54522502 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.759C>T (p.Ala253=) single nucleotide variant Primary ciliary dyskinesia [RCV003652392] Chr5:55220765 [GRCh38]
Chr5:54516593 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.718-5C>T single nucleotide variant Primary ciliary dyskinesia [RCV003652598] Chr5:55220811 [GRCh38]
Chr5:54516639 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.717+20G>A single nucleotide variant Primary ciliary dyskinesia [RCV003652882] Chr5:55220996 [GRCh38]
Chr5:54516824 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.218-18C>T single nucleotide variant Primary ciliary dyskinesia [RCV003652627] Chr5:55226685 [GRCh38]
Chr5:54522513 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.235C>T (p.Leu79=) single nucleotide variant Primary ciliary dyskinesia [RCV003652459] Chr5:55226650 [GRCh38]
Chr5:54522478 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.268G>T (p.Gly90Trp) single nucleotide variant Primary ciliary dyskinesia [RCV003653094] Chr5:55226617 [GRCh38]
Chr5:54522445 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.277G>A (p.Ala93Thr) single nucleotide variant Primary ciliary dyskinesia [RCV003828628] Chr5:55226608 [GRCh38]
Chr5:54522436 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.121-6G>T single nucleotide variant Primary ciliary dyskinesia [RCV003647339] Chr5:55226937 [GRCh38]
Chr5:54522765 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.336C>T (p.Asp112=) single nucleotide variant Primary ciliary dyskinesia [RCV003647614] Chr5:55222997 [GRCh38]
Chr5:54518825 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.174G>C (p.Ser58=) single nucleotide variant Primary ciliary dyskinesia [RCV003536595] Chr5:55226878 [GRCh38]
Chr5:54522706 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.607-12C>T single nucleotide variant Primary ciliary dyskinesia [RCV003536678] Chr5:55221138 [GRCh38]
Chr5:54516966 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.383-10TCT[3] microsatellite Primary ciliary dyskinesia [RCV003535431] Chr5:55222403..55222404 [GRCh38]
Chr5:54518231..54518232 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.310-11G>T single nucleotide variant Primary ciliary dyskinesia [RCV003537580] Chr5:55223034 [GRCh38]
Chr5:54518862 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.1125C>T (p.Asn375=) single nucleotide variant Primary ciliary dyskinesia [RCV003536695] Chr5:55220399 [GRCh38]
Chr5:54516227 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.72A>G (p.Ala24=) single nucleotide variant Primary ciliary dyskinesia [RCV003539226] Chr5:55227067 [GRCh38]
Chr5:54522895 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.721C>T (p.Leu241=) single nucleotide variant Primary ciliary dyskinesia [RCV003535392] Chr5:55220803 [GRCh38]
Chr5:54516631 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.219C>T (p.Ala73=) single nucleotide variant Primary ciliary dyskinesia [RCV003537010] Chr5:55226666 [GRCh38]
Chr5:54522494 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.309+9C>G single nucleotide variant Primary ciliary dyskinesia [RCV003537893] Chr5:55226567 [GRCh38]
Chr5:54522395 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.1053C>T (p.Arg351=) single nucleotide variant Primary ciliary dyskinesia [RCV003539040] Chr5:55220471 [GRCh38]
Chr5:54516299 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.222C>G (p.Leu74=) single nucleotide variant Primary ciliary dyskinesia [RCV003536877] Chr5:55226663 [GRCh38]
Chr5:54522491 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.218-4G>A single nucleotide variant Primary ciliary dyskinesia [RCV003536234] Chr5:55226671 [GRCh38]
Chr5:54522499 [GRCh37]
Chr5:5q11.2
likely benign
GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1 copy number loss not specified [RCV003986571] Chr5:49430268..57925870 [GRCh37]
Chr5:5q11.1-11.2
likely pathogenic
NM_001190787.3(MCIDAS):c.83G>A (p.Arg28Gln) single nucleotide variant Inborn genetic diseases [RCV004419159] Chr5:55227056 [GRCh38]
Chr5:54522884 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.464G>A (p.Cys155Tyr) single nucleotide variant Inborn genetic diseases [RCV004419156] Chr5:55222318 [GRCh38]
Chr5:54518146 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.470C>T (p.Ser157Phe) single nucleotide variant Inborn genetic diseases [RCV004419157] Chr5:55222312 [GRCh38]
Chr5:54518140 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.773T>C (p.Leu258Pro) single nucleotide variant Inborn genetic diseases [RCV004419158] Chr5:55220751 [GRCh38]
Chr5:54516579 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.999C>A (p.Ser333Arg) single nucleotide variant Inborn genetic diseases [RCV004419160] Chr5:55220525 [GRCh38]
Chr5:54516353 [GRCh37]
Chr5:5q11.2
likely benign
NM_001190787.3(MCIDAS):c.1055T>A (p.Ile352Asn) single nucleotide variant Inborn genetic diseases [RCV004419155] Chr5:55220469 [GRCh38]
Chr5:54516297 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.1036G>A (p.Gly346Ser) single nucleotide variant Inborn genetic diseases [RCV004419154] Chr5:55220488 [GRCh38]
Chr5:54516316 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.760G>A (p.Glu254Lys) single nucleotide variant Inborn genetic diseases [RCV004637831] Chr5:55220764 [GRCh38]
Chr5:54516592 [GRCh37]
Chr5:5q11.2
uncertain significance
NM_001190787.3(MCIDAS):c.556G>A (p.Ala186Thr) single nucleotide variant Inborn genetic diseases [RCV004637832] Chr5:55222226 [GRCh38]
Chr5:54518054 [GRCh37]
Chr5:5q11.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:968
Count of miRNA genes:616
Interacting mature miRNAs:671
Transcripts:ENST00000513312, ENST00000513468, ENST00000515336
Prediction methods:Miranda, Rnahybrid
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
597108245GWAS1204319_Hcocaine dependence QTL GWAS1204319 (human)0.000008cocaine dependence55522405055224051Human
597349652GWAS1445726_Hbone density QTL GWAS1445726 (human)2e-08bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)55522442655224427Human


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
renal system
reproductive system
respiratory system
sensory system
191 963 915 734 3111 1144 1760 3 261 426 117 1180 2247 1693 49 2105 561 1329 1417 156

Sequence


Ensembl Acc Id: ENST00000513312   ⟹   ENSP00000426359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl555,219,564 - 55,227,315 (-)Ensembl
Ensembl Acc Id: ENST00000513468   ⟹   ENSP00000422165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl555,219,614 - 55,227,315 (-)Ensembl
Ensembl Acc Id: ENST00000515336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl555,221,107 - 55,227,262 (-)Ensembl
RefSeq Acc Id: NM_001190787   ⟹   NP_001177716
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38555,219,564 - 55,227,315 (-)NCBI
GRCh37554,515,425 - 54,523,143 (-)NCBI
HuRef551,488,443 - 51,496,162 (-)NCBI
CHM1_1554,519,283 - 54,527,002 (-)NCBI
T2T-CHM13v2.0556,046,854 - 56,054,605 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001177716 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein CCA89438 (Get FASTA)   NCBI Sequence Viewer  
  D6RGH6 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000422165.1
  ENSP00000426359
  ENSP00000426359.1
RefSeq Acc Id: NP_001177716   ⟸   NM_001190787
- UniProtKB: D6R920 (UniProtKB/Swiss-Prot),   C9JGY3 (UniProtKB/Swiss-Prot),   F8KGQ8 (UniProtKB/Swiss-Prot),   D6RGH6 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000426359   ⟸   ENST00000513312
Ensembl Acc Id: ENSP00000422165   ⟸   ENST00000513468

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-D6RGH6-F1-model_v2 AlphaFold D6RGH6 1-385 view protein structure

Promoters
RGD ID:6869610
Promoter ID:EPDNEW_H7970
Type:initiation region
Name:MCIDAS_1
Description:multiciliate differentiation and DNA synthesis associated cellcycle protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38555,227,309 - 55,227,369EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:40050 AgrOrtholog
COSMIC MCIDAS COSMIC
Ensembl Genes ENSG00000234602 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000513312 ENTREZGENE
  ENST00000513312.3 UniProtKB/Swiss-Prot
  ENST00000513468.5 UniProtKB/TrEMBL
Gene3D-CATH Geminin coiled-coil domain UniProtKB/Swiss-Prot
GTEx ENSG00000234602 GTEx
HGNC ID HGNC:40050 ENTREZGENE
Human Proteome Map MCIDAS Human Proteome Map
InterPro Geminin/Multicilin UniProtKB/Swiss-Prot
KEGG Report hsa:345643 UniProtKB/Swiss-Prot
NCBI Gene MCIN ENTREZGENE
OMIM 614086 OMIM
PANTHER GEMININ UniProtKB/Swiss-Prot
  PTHR13372:SF3 UniProtKB/Swiss-Prot
Pfam Geminin UniProtKB/Swiss-Prot
PharmGKB PA166049068 PharmGKB
Superfamily-SCOP Geminin coiled-coil domain UniProtKB/Swiss-Prot
UniProt C9JGY3 ENTREZGENE
  D6R920 ENTREZGENE
  D6RGH6 ENTREZGENE
  F8KGQ8 ENTREZGENE
  I6L8E2_HUMAN UniProtKB/TrEMBL
  MCIN_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary C9JGY3 UniProtKB/Swiss-Prot
  D6R920 UniProtKB/Swiss-Prot
  F8KGQ8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-03-12 MCIDAS  multiciliate differentiation and DNA synthesis associated cell cycle protein  MCIN  multiciliate cell differentiation 1  Symbol and/or name change 5135510 APPROVED