DNAAF11 (dynein axonemal assembly factor 11) - Rat Genome Database

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Gene: DNAAF11 (dynein axonemal assembly factor 11) Homo sapiens
Analyze
Symbol: DNAAF11
Name: dynein axonemal assembly factor 11
RGD ID: 1351490
HGNC Page HGNC:16725
Description: Involved in several processes, including cilium assembly; epithelial cilium movement involved in determination of left/right asymmetry; and protein localization to motile cilium. Located in cilium and cytoplasm. Implicated in primary ciliary dyskinesia 19.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CILD19; leucine rich repeat containing 6; leucine rich testes protein; leucine-rich repeat-containing protein 6; leucine-rich testis-specific protein; LRRC6; LRTP; protein TILB homolog; seahorse; testis specific leucine rich repeat protein; testis-specific leucine-rich repeat protein; tilB; TSLRP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: DNAAF11P1   LRRC37A13P   LRRC37A14P   LRRC37A15P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388132,570,416 - 132,702,913 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8132,570,416 - 132,675,592 (-)EnsemblGRCh38hg38GRCh38
GRCh378133,582,664 - 133,687,791 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368133,653,629 - 133,756,995 (-)NCBINCBI36Build 36hg18NCBI36
Build 348133,653,630 - 133,756,995NCBI
Celera8129,759,252 - 129,862,622 (-)NCBICelera
Cytogenetic Map8q24.22NCBI
HuRef8128,902,733 - 129,006,332 (-)NCBIHuRef
CHM1_18133,624,994 - 133,728,649 (-)NCBICHM1_1
T2T-CHM13v2.08133,693,703 - 133,826,388 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component
apical cytoplasm  (IEA,ISO)
cilium  (IDA)
cytoplasm  (IBA,IDA,IEA,ISS)
cytosol  (IEA,ISO,ISS)
dynein axonemal particle  (IEA,ISS)
extracellular region  (IEA)
motile cilium  (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)
Absent inner and outer dynein arms  (IAGP)
Airway obstruction  (IAGP)
Anomalous pulmonary venous return  (IAGP)
Asplenia  (IAGP)
Atelectasis  (IAGP)
Atrial situs ambiguous  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bronchiectasis  (IAGP)
Chronic bronchitis  (IAGP)
Chronic otitis media  (IAGP)
Chronic rhinitis  (IAGP)
Chronic sinusitis  (IAGP)
Ciliary dyskinesia  (IAGP)
Clubbing  (IAGP)
Conductive hearing impairment  (IAGP)
Delayed speech and language development  (IAGP)
Double outlet right ventricle  (IAGP)
Ectopic pregnancy  (IAGP)
Female infertility  (IAGP)
Hearing impairment  (IAGP)
Heterotaxy  (IAGP)
Hydrocephalus  (IAGP)
Immotile cilia  (IAGP)
Infertility  (IAGP)
Intestinal malrotation  (IAGP)
Lithoptysis  (IAGP)
Male infertility  (IAGP)
Morphological central nervous system abnormality  (IAGP)
Nasal congestion  (IAGP)
Nasal polyposis  (IAGP)
Neonatal respiratory distress  (IAGP)
Peribronchovascular interstitial thickening  (IAGP)
Persistent left superior vena cava  (IAGP)
Polysplenia  (IAGP)
Productive cough  (IAGP)
Pulmonary situs ambiguus  (IAGP)
Recurrent mycobacterial infections  (IAGP)
Recurrent otitis media  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent sinopulmonary infections  (IAGP)
Recurrent sinusitis  (IAGP)
Respiratory failure  (IAGP)
Respiratory insufficiency due to defective ciliary clearance  (IAGP)
Respiratory tract infection  (IAGP)
Rhinitis  (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
3. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8889548   PMID:10775177   PMID:11329013   PMID:12477932   PMID:15489334   PMID:15831481   PMID:16344560   PMID:19395640   PMID:20215474   PMID:20301301   PMID:21873635   PMID:23122586  
PMID:23122589   PMID:23527195   PMID:23891469   PMID:23891471   PMID:24432614   PMID:25036637   PMID:25186273   PMID:26228299   PMID:26344197   PMID:27173435   PMID:27337956   PMID:28514442  
PMID:29511670   PMID:29601588   PMID:30021884   PMID:32296183   PMID:33961781   PMID:36515799  


Genomics

Comparative Map Data
DNAAF11
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388132,570,416 - 132,702,913 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8132,570,416 - 132,675,592 (-)EnsemblGRCh38hg38GRCh38
GRCh378133,582,664 - 133,687,791 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368133,653,629 - 133,756,995 (-)NCBINCBI36Build 36hg18NCBI36
Build 348133,653,630 - 133,756,995NCBI
Celera8129,759,252 - 129,862,622 (-)NCBICelera
Cytogenetic Map8q24.22NCBI
HuRef8128,902,733 - 129,006,332 (-)NCBIHuRef
CHM1_18133,624,994 - 133,728,649 (-)NCBICHM1_1
T2T-CHM13v2.08133,693,703 - 133,826,388 (-)NCBIT2T-CHM13v2.0
Dnaaf11
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391566,251,707 - 66,372,769 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1566,251,707 - 66,372,759 (-)EnsemblGRCm39 Ensembl
GRCm381566,379,858 - 66,500,921 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1566,379,858 - 66,500,910 (-)EnsemblGRCm38mm10GRCm38
MGSCv371566,211,420 - 66,332,472 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361566,209,527 - 66,330,510 (-)NCBIMGSCv36mm8
Celera1567,903,643 - 68,032,794 (-)NCBICelera
Cytogenetic Map15D1NCBI
cM Map1529.22NCBI
Dnaaf11
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87100,033,843 - 100,134,979 (-)NCBIGRCr8
mRatBN7.2798,141,525 - 98,245,906 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl798,144,763 - 98,245,837 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx799,899,274 - 100,006,426 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07102,100,939 - 102,208,084 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07102,020,292 - 102,127,442 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07107,130,402 - 107,231,507 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7107,130,402 - 107,223,047 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07107,073,711 - 107,174,936 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.07107,265,345 - 107,276,742 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47103,747,640 - 103,851,124 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera794,698,248 - 94,798,326 (-)NCBICelera
Cytogenetic Map7q33NCBI
Dnaaf11
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554617,204,339 - 7,312,241 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554617,204,165 - 7,311,524 (-)NCBIChiLan1.0ChiLan1.0
DNAAF11
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27149,957,976 - 150,063,701 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18125,472,529 - 125,578,472 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08129,223,591 - 129,329,535 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18132,199,607 - 132,305,351 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8132,199,607 - 132,305,351 (-)Ensemblpanpan1.1panPan2
DNAAF11
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11329,128,500 - 29,199,354 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1329,128,504 - 29,199,323 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1329,101,416 - 29,172,254 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01329,482,884 - 29,553,592 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1329,482,877 - 29,553,561 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11329,209,949 - 29,280,586 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01329,309,966 - 29,380,707 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01329,622,148 - 29,692,826 (-)NCBIUU_Cfam_GSD_1.0
Dnaaf11
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053039,131,239 - 9,214,410 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647016,557,371 - 16,640,553 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647016,557,381 - 16,640,519 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DNAAF11
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl48,532,739 - 8,608,582 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.148,531,612 - 8,605,904 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.248,570,672 - 8,644,007 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DNAAF11
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18127,010,303 - 127,103,343 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl8127,008,619 - 127,103,300 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603913,003,355 - 13,096,192 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dnaaf11
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473523,269,414 - 23,355,968 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473523,269,253 - 23,355,832 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DNAAF11
224 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012472.6(DNAAF11):c.27T>G (p.Ile9Met) single nucleotide variant Infertility disorder [RCV001327950]|Primary ciliary dyskinesia 19 [RCV000525213] Chr8:132661611 [GRCh38]
Chr8:133673857 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.598_599del (p.Lys200fs) deletion Primary ciliary dyskinesia 19 [RCV000033016] Chr8:132632794..132632795 [GRCh38]
Chr8:133645040..133645041 [GRCh37]
Chr8:8q24.22		 pathogenic
NM_012472.6(DNAAF11):c.576dup (p.Glu193fs) duplication Primary ciliary dyskinesia 19 [RCV000033018] Chr8:132632816..132632817 [GRCh38]
Chr8:133645062..133645063 [GRCh37]
Chr8:8q24.22		 pathogenic
LRRC6, 1-BP DEL, 630G deletion Ciliary dyskinesia, primary, 19 [RCV000056270] Chr8:8q24.22 pathogenic
NM_012472.6(DNAAF11):c.574C>T (p.Gln192Ter) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000033017] Chr8:132632819 [GRCh38]
Chr8:133645065 [GRCh37]
Chr8:8q24.22		 pathogenic
NM_012472.6(DNAAF11):c.220G>C (p.Ala74Pro) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000033019] Chr8:132656866 [GRCh38]
Chr8:133669112 [GRCh37]
Chr8:8q24.22		 pathogenic|uncertain significance
NM_012472.6(DNAAF11):c.436G>C (p.Asp146His) single nucleotide variant Heterotaxy [RCV001731475]|Primary ciliary dyskinesia 19 [RCV000033020]|Primary ciliary dyskinesia [RCV002460894] Chr8:132632957 [GRCh38]
Chr8:133645203 [GRCh37]
Chr8:8q24.22		 pathogenic
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3		 pathogenic
GRCh38/hg38 8q24.21-24.22(chr8:129176782-134170188)x1 copy number loss See cases [RCV000050751] Chr8:129176782..134170188 [GRCh38]
Chr8:130189028..135182431 [GRCh37]
Chr8:130258210..135251613 [NCBI36]
Chr8:8q24.21-24.22		 pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q24.21-24.23(chr8:126626164-137169427)x1 copy number loss See cases [RCV000054306] Chr8:126626164..137169427 [GRCh38]
Chr8:127638409..138181670 [GRCh37]
Chr8:127707591..138250852 [NCBI36]
Chr8:8q24.21-24.23		 pathogenic
NM_012472.6(DNAAF11):c.562C>T (p.Gln188Ter) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000056271] Chr8:132632831 [GRCh38]
Chr8:133645077 [GRCh37]
Chr8:8q24.22		 pathogenic
NM_012472.6(DNAAF11):c.178+38A>G single nucleotide variant not provided [RCV001545482] Chr8:132661422 [GRCh38]
Chr8:133673668 [GRCh37]
Chr8:8q24.22		 likely benign
GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3 copy number gain See cases [RCV000133621] Chr8:130115518..141228210 [GRCh38]
Chr8:131127764..142238309 [GRCh37]
Chr8:131196946..142307491 [NCBI36]
Chr8:8q24.21-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23		 pathogenic|likely pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
NM_012472.6(DNAAF11):c.630del (p.Trp210fs) deletion Inborn genetic diseases [RCV000624140]|Kartagener syndrome [RCV000190917]|Primary ciliary dyskinesia 19 [RCV000056270]|Primary ciliary dyskinesia [RCV002460965] Chr8:132632763 [GRCh38]
Chr8:133645009 [GRCh37]
Chr8:8q24.22		 pathogenic|not provided
NM_012472.6(DNAAF11):c.1084AGT[1] (p.Ser364del) microsatellite Primary ciliary dyskinesia 19 [RCV000543244] Chr8:132610217..132610219 [GRCh38]
Chr8:133622463..133622465 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8q24.22(chr8:132005210-133698781)x3 copy number gain See cases [RCV000515570] Chr8:132005210..133698781 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.408A>G (p.Val136=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV001164737]|not specified [RCV000243610] Chr8:132637956 [GRCh38]
Chr8:133650202 [GRCh37]
Chr8:8q24.22		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012472.6(DNAAF11):c.1397T>C (p.Ile466Thr) single nucleotide variant Primary ciliary dyskinesia 19 [RCV001515548]|Primary ciliary dyskinesia [RCV000346088]|not provided [RCV001636794]|not specified [RCV000248674] Chr8:132572310 [GRCh38]
Chr8:133584558 [GRCh37]
Chr8:8q24.22		 benign|likely benign
NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu) single nucleotide variant Multiple sclerosis, susceptibility to [RCV001823000]|Primary ciliary dyskinesia 19 [RCV001085911]|Primary ciliary dyskinesia [RCV002461049]|not provided [RCV000767176]|not specified [RCV000243911] Chr8:132572316 [GRCh38]
Chr8:133584564 [GRCh37]
Chr8:8q24.22		 risk factor|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012472.6(DNAAF11):c.283C>T (p.Leu95=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000540372]|Primary ciliary dyskinesia [RCV000265673]|not provided [RCV001660310]|not specified [RCV000251814] Chr8:132638081 [GRCh38]
Chr8:133650327 [GRCh37]
Chr8:8q24.22		 benign|likely benign
NM_012472.6(DNAAF11):c.914+13A>G single nucleotide variant Primary ciliary dyskinesia 19 [RCV002230202]|not provided [RCV000514254]|not specified [RCV000244928] Chr8:132622598 [GRCh38]
Chr8:133634844 [GRCh37]
Chr8:8q24.22		 benign|likely benign
NM_012472.6(DNAAF11):c.1343T>C (p.Ile448Thr) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000551333]|Primary ciliary dyskinesia [RCV002461048]|not specified [RCV000252281] Chr8:132572364 [GRCh38]
Chr8:133584612 [GRCh37]
Chr8:8q24.22		 benign
NM_012472.6(DNAAF11):c.1245A>G (p.Lys415=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000526419]|Primary ciliary dyskinesia [RCV002461047]|not specified [RCV000247518] Chr8:132572462 [GRCh38]
Chr8:133584710 [GRCh37]
Chr8:8q24.22		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012472.6(DNAAF11):c.610G>A (p.Ala204Thr) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000528852] Chr8:132632783 [GRCh38]
Chr8:133645029 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.1197G>A (p.Ser399=) single nucleotide variant not specified [RCV000242752] Chr8:132583723 [GRCh38]
Chr8:133595970 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.1162G>A (p.Gly388Ser) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000551113]|Primary ciliary dyskinesia [RCV000391294]|not provided [RCV002285295]|not specified [RCV000252589] Chr8:132583758 [GRCh38]
Chr8:133596005 [GRCh37]
Chr8:8q24.22		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012472.6(DNAAF11):c.915-8A>G single nucleotide variant not specified [RCV000248058] Chr8:132615105 [GRCh38]
Chr8:133627351 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.695C>T (p.Thr232Ile) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000613925]|Primary ciliary dyskinesia [RCV000391302]|not provided [RCV001636795]|not specified [RCV000253126] Chr8:132625413 [GRCh38]
Chr8:133637659 [GRCh37]
Chr8:8q24.22		 benign
NM_012472.6(DNAAF11):c.609C>T (p.Asn203=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000555246]|Primary ciliary dyskinesia [RCV002461050]|not provided [RCV001610684]|not specified [RCV000248339] Chr8:132632784 [GRCh38]
Chr8:133645030 [GRCh37]
Chr8:8q24.22		 benign|likely benign
NM_012472.6(DNAAF11):c.131G>A (p.Arg44Gln) single nucleotide variant DNAAF11-related condition [RCV003970063]|Primary ciliary dyskinesia 19 [RCV000964593] Chr8:132661507 [GRCh38]
Chr8:133673753 [GRCh37]
Chr8:8q24.22		 benign|likely benign|uncertain significance
NM_012472.6(DNAAF11):c.1178A>G (p.Lys393Arg) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000349818] Chr8:132583742 [GRCh38]
Chr8:133595989 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.974+14C>A single nucleotide variant Primary ciliary dyskinesia 19 [RCV000353374] Chr8:132615024 [GRCh38]
Chr8:133627270 [GRCh37]
Chr8:8q24.22		 conflicting interpretations of pathogenicity|uncertain significance
NM_012472.6(DNAAF11):c.1109C>G (p.Thr370Arg) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000650321]|Primary ciliary dyskinesia [RCV002461117] Chr8:132610197 [GRCh38]
Chr8:133622443 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.611C>T (p.Ala204Val) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000650324] Chr8:132632782 [GRCh38]
Chr8:133645028 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.949A>G (p.Ile317Val) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000553224]|Primary ciliary dyskinesia [RCV003372752] Chr8:132615063 [GRCh38]
Chr8:133627309 [GRCh37]
Chr8:8q24.22		 likely benign|uncertain significance
NM_012472.6(DNAAF11):c.1300G>A (p.Glu434Lys) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000398442] Chr8:132572407 [GRCh38]
Chr8:133584655 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.1096A>G (p.Lys366Glu) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000558055]|Primary ciliary dyskinesia [RCV002461318] Chr8:132610210 [GRCh38]
Chr8:133622456 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.21-24.22(chr8:131025817-133947836)x3 copy number gain See cases [RCV000511900] Chr8:131025817..133947836 [GRCh37]
Chr8:8q24.21-24.22		 uncertain significance
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
NM_012472.6(DNAAF11):c.1258C>A (p.Pro420Thr) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000536738] Chr8:132572449 [GRCh38]
Chr8:133584697 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.2T>A (p.Met1Lys) single nucleotide variant DNAAF11-related condition [RCV003403499]|Primary ciliary dyskinesia 19 [RCV000650320]|Primary ciliary dyskinesia [RCV002461967]|not provided [RCV003736869] Chr8:132675492 [GRCh38]
Chr8:133687738 [GRCh37]
Chr8:8q24.22		 pathogenic|likely pathogenic|uncertain significance
NM_012472.6(DNAAF11):c.633C>A (p.Tyr211Ter) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000650322] Chr8:132632760 [GRCh38]
Chr8:133645006 [GRCh37]
Chr8:8q24.22		 pathogenic
NM_012472.6(DNAAF11):c.668G>A (p.Ser223Asn) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000650323] Chr8:132625440 [GRCh38]
Chr8:133637686 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.79_80del (p.Ser27fs) microsatellite Primary ciliary dyskinesia 19 [RCV000650325]|Primary ciliary dyskinesia [RCV002461968] Chr8:132661558..132661559 [GRCh38]
Chr8:133673804..133673805 [GRCh37]
Chr8:8q24.22		 pathogenic|conflicting interpretations of pathogenicity
NM_012472.6(DNAAF11):c.1050del (p.Gln351fs) deletion Primary ciliary dyskinesia 19 [RCV000650326] Chr8:132610256 [GRCh38]
Chr8:133622502 [GRCh37]
Chr8:8q24.22		 pathogenic
NM_012472.6(DNAAF11):c.299T>C (p.Ile100Thr) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000650327]|not provided [RCV001815364] Chr8:132638065 [GRCh38]
Chr8:133650311 [GRCh37]
Chr8:8q24.22		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_012472.6(DNAAF11):c.863C>A (p.Pro288His) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000650328]|Primary ciliary dyskinesia [RCV002461969] Chr8:132622662 [GRCh38]
Chr8:133634908 [GRCh37]
Chr8:8q24.22		 benign
NM_012472.6(DNAAF11):c.873G>A (p.Leu291=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000650329] Chr8:132622652 [GRCh38]
Chr8:133634898 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.574C>G (p.Gln192Glu) single nucleotide variant DNAAF11-related condition [RCV003937962]|Primary ciliary dyskinesia 19 [RCV000650330]|Primary ciliary dyskinesia [RCV002461970]|not provided [RCV001565975] Chr8:132632819 [GRCh38]
Chr8:133645065 [GRCh37]
Chr8:8q24.22		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012472.6(DNAAF11):c.675C>A (p.Asp225Glu) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000539154] Chr8:132625433 [GRCh38]
Chr8:133637679 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.1140+10G>A single nucleotide variant Primary ciliary dyskinesia 19 [RCV000536221] Chr8:132610156 [GRCh38]
Chr8:133622402 [GRCh37]
Chr8:8q24.22		 likely benign
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
NM_012472.6(DNAAF11):c.1294G>T (p.Val432Phe) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000688573] Chr8:132572413 [GRCh38]
Chr8:133584661 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.644A>G (p.Asn215Ser) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000707176]|Primary ciliary dyskinesia [RCV002462060] Chr8:132632749 [GRCh38]
Chr8:133644995 [GRCh37]
Chr8:8q24.22		 likely benign|uncertain significance
NM_012472.6(DNAAF11):c.1013C>T (p.Pro338Leu) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000699090] Chr8:132611325 [GRCh38]
Chr8:133623571 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.1081G>A (p.Asp361Asn) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000697439] Chr8:132610225 [GRCh38]
Chr8:133622471 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.525T>A (p.Asp175Glu) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000691307] Chr8:132632868 [GRCh38]
Chr8:133645114 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.472G>T (p.Ala158Ser) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000691547] Chr8:132632921 [GRCh38]
Chr8:133645167 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:133621137-140433338)x1 copy number loss not provided [RCV000747861] Chr8:133621137..140433338 [GRCh37]
Chr8:8q24.22-24.3		 likely pathogenic
NM_012472.6(DNAAF11):c.*197C>G single nucleotide variant Primary ciliary dyskinesia 19 [RCV001164633] Chr8:132572109 [GRCh38]
Chr8:133584357 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.1226+256A>G single nucleotide variant not provided [RCV001708170] Chr8:132583438 [GRCh38]
Chr8:133595685 [GRCh37]
Chr8:8q24.22		 benign
NM_012472.6(DNAAF11):c.915-260T>C single nucleotide variant not provided [RCV001648950] Chr8:132615357 [GRCh38]
Chr8:133627603 [GRCh37]
Chr8:8q24.22		 benign
NM_012472.6(DNAAF11):c.42A>G (p.Glu14=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000898531]|Primary ciliary dyskinesia [RCV002462217] Chr8:132661596 [GRCh38]
Chr8:133673842 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.1020C>T (p.Tyr340=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV001395313] Chr8:132611318 [GRCh38]
Chr8:133623564 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.1281T>C (p.Asp427=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV003537326]|Primary ciliary dyskinesia [RCV002462218] Chr8:132572426 [GRCh38]
Chr8:133584674 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.232A>G (p.Ile78Val) single nucleotide variant Primary ciliary dyskinesia 19 [RCV001332967] Chr8:132656854 [GRCh38]
Chr8:133669100 [GRCh37]
Chr8:8q24.22		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012472.6(DNAAF11):c.831A>G (p.Lys277=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000922170] Chr8:132625277 [GRCh38]
Chr8:133637523 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.1211A>C (p.Glu404Ala) single nucleotide variant Primary ciliary dyskinesia 19 [RCV001039428] Chr8:132583709 [GRCh38]
Chr8:133595956 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
NM_012472.6(DNAAF11):c.369C>T (p.Asn123=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV001450696]|Primary ciliary dyskinesia [RCV003380771] Chr8:132637995 [GRCh38]
Chr8:133650241 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.186T>C (p.Val62=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000886493]|Primary ciliary dyskinesia [RCV003372905] Chr8:132656900 [GRCh38]
Chr8:133669146 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.1226+6A>G single nucleotide variant Primary ciliary dyskinesia 19 [RCV000945912] Chr8:132583688 [GRCh38]
Chr8:133595935 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.228C>T (p.Asn76=) single nucleotide variant not provided [RCV000943204] Chr8:132656858 [GRCh38]
Chr8:133669104 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.66C>T (p.Ser22=) single nucleotide variant DNAAF11-related condition [RCV003903080]|Primary ciliary dyskinesia 19 [RCV000929944]|Primary ciliary dyskinesia [RCV002462228] Chr8:132661572 [GRCh38]
Chr8:133673818 [GRCh37]
Chr8:8q24.22		 likely benign
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 copy number loss not provided [RCV001006144] Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3		 pathogenic
NM_012472.6(DNAAF11):c.997G>A (p.Asp333Asn) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000797917]|Primary ciliary dyskinesia [RCV002462150] Chr8:132611341 [GRCh38]
Chr8:133623587 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.936_937del (p.Asp312fs) deletion Primary ciliary dyskinesia 19 [RCV000809959]|Primary ciliary dyskinesia [RCV002462172] Chr8:132615075..132615076 [GRCh38]
Chr8:133627321..133627322 [GRCh37]
Chr8:8q24.22		 pathogenic
NM_012472.6(DNAAF11):c.1324C>T (p.Arg442Ter) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000813498] Chr8:132572383 [GRCh38]
Chr8:133584631 [GRCh37]
Chr8:8q24.22		 uncertain significance
NC_000008.10:g.(?_133141489)_(134296574_?)dup duplication Charcot-Marie-Tooth disease type 4 [RCV000804620] Chr8:133141489..134296574 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.1021G>T (p.Val341Leu) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000820114] Chr8:132611317 [GRCh38]
Chr8:133623563 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.10+1G>A single nucleotide variant Primary ciliary dyskinesia 19 [RCV000808662] Chr8:132675483 [GRCh38]
Chr8:133687729 [GRCh37]
Chr8:8q24.22		 pathogenic
NM_012472.6(DNAAF11):c.6C>A (p.Gly2=) single nucleotide variant DNAAF11-related condition [RCV003957988]|Primary ciliary dyskinesia 19 [RCV000893151] Chr8:132675488 [GRCh38]
Chr8:133687734 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.802A>T (p.Met268Leu) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000809329] Chr8:132625306 [GRCh38]
Chr8:133637552 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.989C>T (p.Ser330Phe) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000793082] Chr8:132611349 [GRCh38]
Chr8:133623595 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8q24.22(chr8:131915430-135240074)x1 copy number loss not provided [RCV000845974] Chr8:131915430..135240074 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 copy number loss not provided [RCV000848438] Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
NM_012472.6(DNAAF11):c.1226+1G>A single nucleotide variant Primary ciliary dyskinesia 19 [RCV001066754] Chr8:132583693 [GRCh38]
Chr8:133595940 [GRCh37]
Chr8:8q24.22		 pathogenic
NM_012472.6(DNAAF11):c.719T>C (p.Leu240Ser) single nucleotide variant Primary ciliary dyskinesia 19 [RCV001164736]|Primary ciliary dyskinesia [RCV002462335]|not provided [RCV002508292] Chr8:132625389 [GRCh38]
Chr8:133637635 [GRCh37]
Chr8:8q24.22		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012472.6(DNAAF11):c.914+3A>G single nucleotide variant Primary ciliary dyskinesia 19 [RCV000809278] Chr8:132622608 [GRCh38]
Chr8:133634854 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.837-10C>G single nucleotide variant Primary ciliary dyskinesia 19 [RCV000810910] Chr8:132622698 [GRCh38]
Chr8:133634944 [GRCh37]
Chr8:8q24.22		 likely benign|uncertain significance
NM_012472.6(DNAAF11):c.947A>C (p.Gln316Pro) single nucleotide variant not provided [RCV000788139] Chr8:132615065 [GRCh38]
Chr8:133627311 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
NM_012472.6(DNAAF11):c.1186A>G (p.Lys396Glu) single nucleotide variant Primary ciliary dyskinesia 19 [RCV001248384] Chr8:132583734 [GRCh38]
Chr8:133595981 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.682C>T (p.Gln228Ter) single nucleotide variant Primary ciliary dyskinesia 19 [RCV001224609] Chr8:132625426 [GRCh38]
Chr8:133637672 [GRCh37]
Chr8:8q24.22		 pathogenic
NM_012472.6(DNAAF11):c.28A>G (p.Arg10Gly) single nucleotide variant Primary ciliary dyskinesia 19 [RCV001220361] Chr8:132661610 [GRCh38]
Chr8:133673856 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.550A>C (p.Lys184Gln) single nucleotide variant Primary ciliary dyskinesia 19 [RCV001206942] Chr8:132632843 [GRCh38]
Chr8:133645089 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_012472.6(DNAAF11):c.*193A>G single nucleotide variant Primary ciliary dyskinesia 19 [RCV001159711] Chr8:132572113 [GRCh38]
Chr8:133584361 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.*63C>A single nucleotide variant Primary ciliary dyskinesia 19 [RCV001159715] Chr8:132572243 [GRCh38]
Chr8:133584491 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.*5T>G single nucleotide variant Primary ciliary dyskinesia 19 [RCV001159717]|Primary ciliary dyskinesia [RCV002462333] Chr8:132572301 [GRCh38]
Chr8:133584549 [GRCh37]
Chr8:8q24.22		 benign|uncertain significance
NM_012472.6(DNAAF11):c.234T>G (p.Ile78Met) single nucleotide variant Primary ciliary dyskinesia 19 [RCV001159821] Chr8:132656852 [GRCh38]
Chr8:133669098 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3		 pathogenic
NM_012472.6(DNAAF11):c.1227-179G>A single nucleotide variant not provided [RCV001722998] Chr8:132572659 [GRCh38]
Chr8:133584907 [GRCh37]
Chr8:8q24.22		 benign
NM_012472.6(DNAAF11):c.1305A>G (p.Lys435=) single nucleotide variant not provided [RCV000895097] Chr8:132572402 [GRCh38]
Chr8:133584650 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.31C>T (p.Arg11Trp) single nucleotide variant Primary ciliary dyskinesia 19 [RCV000951798]|Primary ciliary dyskinesia [RCV002462234]|not provided [RCV003128730] Chr8:132661607 [GRCh38]
Chr8:133673853 [GRCh37]
Chr8:8q24.22		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012472.6(DNAAF11):c.340C>T (p.His114Tyr) single nucleotide variant Primary ciliary dyskinesia 19 [RCV001239011]|Primary ciliary dyskinesia [RCV003373081] Chr8:132638024 [GRCh38]
Chr8:133650270 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.814C>T (p.Arg272Trp) single nucleotide variant Primary ciliary dyskinesia 19 [RCV001239391] Chr8:132625294 [GRCh38]
Chr8:133637540 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.49G>A (p.Asp17Asn) single nucleotide variant Primary ciliary dyskinesia 19 [RCV001159823]|Primary ciliary dyskinesia [RCV002462334] Chr8:132661589 [GRCh38]
Chr8:133673835 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.645T>C (p.Asn215=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV001486656]|Primary ciliary dyskinesia [RCV002462215] Chr8:132632748 [GRCh38]
Chr8:133644994 [GRCh37]
Chr8:8q24.22		 likely benign
GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913) copy number gain Distal trisomy 8q [RCV003325441] Chr8:131138343..143473913 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
NM_012472.6(DNAAF11):c.654-76A>T single nucleotide variant not provided [RCV001676078] Chr8:132625530 [GRCh38]
Chr8:133637776 [GRCh37]
Chr8:8q24.22		 benign
NM_012472.6(DNAAF11):c.1044+257C>T single nucleotide variant not provided [RCV001559112] Chr8:132611037 [GRCh38]
Chr8:133623283 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.974+122A>C single nucleotide variant not provided [RCV001552764] Chr8:132614916 [GRCh38]
Chr8:133627162 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.178+46T>A single nucleotide variant not provided [RCV001693580] Chr8:132661414 [GRCh38]
Chr8:133673660 [GRCh37]
Chr8:8q24.22		 benign
NM_012472.6(DNAAF11):c.974+18G>A single nucleotide variant Primary ciliary dyskinesia 19 [RCV002241375]|not provided [RCV001553304] Chr8:132615020 [GRCh38]
Chr8:133627266 [GRCh37]
Chr8:8q24.22		 benign|likely benign
NC_000008.11:g.132675838A>G single nucleotide variant not provided [RCV001566111] Chr8:132675838 [GRCh38]
Chr8:133688084 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.1226+33T>G single nucleotide variant not provided [RCV001560994] Chr8:132583661 [GRCh38]
Chr8:133595908 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.914+43G>A single nucleotide variant not provided [RCV001654931] Chr8:132622568 [GRCh38]
Chr8:133634814 [GRCh37]
Chr8:8q24.22		 benign
NM_012472.6(DNAAF11):c.430-171A>G single nucleotide variant not provided [RCV001723148] Chr8:132633134 [GRCh38]
Chr8:133645380 [GRCh37]
Chr8:8q24.22		 benign
NM_012472.6(DNAAF11):c.10+107C>A single nucleotide variant not provided [RCV001723006] Chr8:132675377 [GRCh38]
Chr8:133687623 [GRCh37]
Chr8:8q24.22		 benign
NM_012472.6(DNAAF11):c.1227-221dup duplication not provided [RCV001688555] Chr8:132572685..132572686 [GRCh38]
Chr8:133584933..133584934 [GRCh37]
Chr8:8q24.22		 benign
GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3 copy number gain Neurodevelopmental disorder [RCV003327615] Chr8:115586904..135607135 [GRCh38]
Chr8:8q23.3-24.23		 pathogenic
NM_012472.6(DNAAF11):c.1141-173G>A single nucleotide variant not provided [RCV001545609] Chr8:132583952 [GRCh38]
Chr8:133596199 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.10+162A>C single nucleotide variant not provided [RCV001594064] Chr8:132675322 [GRCh38]
Chr8:133687568 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.915-134T>C single nucleotide variant not provided [RCV001723121] Chr8:132615231 [GRCh38]
Chr8:133627477 [GRCh37]
Chr8:8q24.22		 benign
NM_012472.6(DNAAF11):c.*73A>T single nucleotide variant Primary ciliary dyskinesia 19 [RCV001159713] Chr8:132572233 [GRCh38]
Chr8:133584481 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.*32C>A single nucleotide variant Primary ciliary dyskinesia 19 [RCV001159716] Chr8:132572274 [GRCh38]
Chr8:133584522 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.*179A>G single nucleotide variant Primary ciliary dyskinesia 19 [RCV001159712] Chr8:132572127 [GRCh38]
Chr8:133584375 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.*68T>G single nucleotide variant Primary ciliary dyskinesia 19 [RCV001159714] Chr8:132572238 [GRCh38]
Chr8:133584486 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
NM_012472.6(DNAAF11):c.1223C>G (p.Thr408Arg) single nucleotide variant Primary ciliary dyskinesia 19 [RCV001161119] Chr8:132583697 [GRCh38]
Chr8:133595944 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.654-250C>T single nucleotide variant not provided [RCV001533894] Chr8:132625704 [GRCh38]
Chr8:133637950 [GRCh37]
Chr8:8q24.22		 benign
NM_012472.6(DNAAF11):c.1227-93C>T single nucleotide variant not provided [RCV001646052] Chr8:132572573 [GRCh38]
Chr8:133584821 [GRCh37]
Chr8:8q24.22		 benign
NM_012472.6(DNAAF11):c.10+326C>G single nucleotide variant not provided [RCV001648220] Chr8:132675158 [GRCh38]
Chr8:133687404 [GRCh37]
Chr8:8q24.22		 benign
NM_012472.6(DNAAF11):c.11-72G>A single nucleotide variant not provided [RCV001663056] Chr8:132661699 [GRCh38]
Chr8:133673945 [GRCh37]
Chr8:8q24.22		 benign
NM_012472.6(DNAAF11):c.179-31_179-28del microsatellite not provided [RCV001663307] Chr8:132656935..132656938 [GRCh38]
Chr8:133669181..133669184 [GRCh37]
Chr8:8q24.22		 benign
NM_012472.6(DNAAF11):c.653+192G>C single nucleotide variant not provided [RCV001583642] Chr8:132632548 [GRCh38]
Chr8:133644794 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.836+56T>C single nucleotide variant not provided [RCV001642171] Chr8:132625216 [GRCh38]
Chr8:133637462 [GRCh37]
Chr8:8q24.22		 benign
NM_012472.6(DNAAF11):c.523G>T (p.Asp175Tyr) single nucleotide variant Primary ciliary dyskinesia 19 [RCV001039411] Chr8:132632870 [GRCh38]
Chr8:133645116 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.538C>T (p.Arg180Ter) single nucleotide variant Primary ciliary dyskinesia 19 [RCV001035550] Chr8:132632855 [GRCh38]
Chr8:133645101 [GRCh37]
Chr8:8q24.22		 pathogenic
NM_012472.6(DNAAF11):c.178+13A>G single nucleotide variant Primary ciliary dyskinesia 19 [RCV001159822] Chr8:132661447 [GRCh38]
Chr8:133673693 [GRCh37]
Chr8:8q24.22		 conflicting interpretations of pathogenicity|uncertain significance
NM_012472.6(DNAAF11):c.*239T>C single nucleotide variant Primary ciliary dyskinesia 19 [RCV001164632]|not provided [RCV001571238] Chr8:132572067 [GRCh38]
Chr8:133584315 [GRCh37]
Chr8:8q24.22		 likely benign|uncertain significance
NM_012472.6(DNAAF11):c.32G>A (p.Arg11Gln) single nucleotide variant Primary ciliary dyskinesia 19 [RCV001048785]|Primary ciliary dyskinesia [RCV002462284] Chr8:132661606 [GRCh38]
Chr8:133673852 [GRCh37]
Chr8:8q24.22		 likely benign|uncertain significance
NM_012472.6(DNAAF11):c.1044+12C>A single nucleotide variant Primary ciliary dyskinesia 19 [RCV001162679] Chr8:132611282 [GRCh38]
Chr8:133623528 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.389A>G (p.His130Arg) single nucleotide variant Primary ciliary dyskinesia 19 [RCV001063803] Chr8:132637975 [GRCh38]
Chr8:133650221 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8q24.22(chr8:133176537-133891988)x1 copy number loss not provided [RCV001259030] Chr8:133176537..133891988 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
NM_012472.6(DNAAF11):c.354_355del (p.Phe119fs) microsatellite Primary ciliary dyskinesia 19 [RCV002568746]|Primary ciliary dyskinesia [RCV001255258] Chr8:132638009..132638010 [GRCh38]
Chr8:133650255..133650256 [GRCh37]
Chr8:8q24.22		 pathogenic|likely pathogenic
NM_012472.6(DNAAF11):c.1045-126A>C single nucleotide variant not provided [RCV001641727] Chr8:132610387 [GRCh38]
Chr8:133622633 [GRCh37]
Chr8:8q24.22		 benign
NM_012472.6(DNAAF11):c.250T>C (p.Leu84=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV001394906] Chr8:132656836 [GRCh38]
Chr8:133669082 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.145C>G (p.Leu49Val) single nucleotide variant Primary ciliary dyskinesia 19 [RCV001327633] Chr8:132661493 [GRCh38]
Chr8:133673739 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.1293A>C (p.Ile431=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV001510703]|Primary ciliary dyskinesia [RCV002463003]|not provided [RCV003438848] Chr8:132572414 [GRCh38]
Chr8:133584662 [GRCh37]
Chr8:8q24.22		 benign|likely benign
NM_012472.6(DNAAF11):c.11-10T>C single nucleotide variant Primary ciliary dyskinesia 19 [RCV001453590] Chr8:132661637 [GRCh38]
Chr8:133673883 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.402C>T (p.Phe134=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV001398438] Chr8:132637962 [GRCh38]
Chr8:133650208 [GRCh37]
Chr8:8q24.22		 likely benign
NC_000008.10:g.(?_133584534)_(133584748_?)del deletion Primary ciliary dyskinesia 19 [RCV001377400] Chr8:133584534..133584748 [GRCh37]
Chr8:8q24.22		 likely pathogenic
NM_012472.6(DNAAF11):c.864C>T (p.Pro288=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV001448982] Chr8:132622661 [GRCh38]
Chr8:133634907 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.430-94C>T single nucleotide variant not provided [RCV001590879] Chr8:132633057 [GRCh38]
Chr8:133645303 [GRCh37]
Chr8:8q24.22		 likely benign
NC_000008.10:g.(?_133141509)_(134296554_?)del deletion Benign neonatal seizures [RCV001383836] Chr8:133141509..134296554 [GRCh37]
Chr8:8q24.22		 pathogenic
NM_012472.6(DNAAF11):c.450_451delinsGT (p.Ile150_Glu151delinsMetTer) indel Primary ciliary dyskinesia 19 [RCV001384272] Chr8:132632942..132632943 [GRCh38]
Chr8:133645188..133645189 [GRCh37]
Chr8:8q24.22		 pathogenic
NM_012472.6(DNAAF11):c.1140+3A>G single nucleotide variant Primary ciliary dyskinesia 19 [RCV002239531] Chr8:132610163 [GRCh38]
Chr8:133622409 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.1118A>G (p.His373Arg) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002239532] Chr8:132610188 [GRCh38]
Chr8:133622434 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.595G>A (p.Asp199Asn) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002239535] Chr8:132632798 [GRCh38]
Chr8:133645044 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.914+18G>C single nucleotide variant Primary ciliary dyskinesia 19 [RCV002238527] Chr8:132622593 [GRCh38]
Chr8:133634839 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.836+18A>G single nucleotide variant Primary ciliary dyskinesia 19 [RCV002238528] Chr8:132625254 [GRCh38]
Chr8:133637500 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.724_725del (p.Asn242fs) deletion Primary ciliary dyskinesia 19 [RCV002238529] Chr8:132625383..132625384 [GRCh38]
Chr8:133637629..133637630 [GRCh37]
Chr8:8q24.22		 pathogenic
NM_012472.6(DNAAF11):c.707A>G (p.Asn236Ser) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002238530] Chr8:132625401 [GRCh38]
Chr8:133637647 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.122A>G (p.Lys41Arg) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002238536] Chr8:132661516 [GRCh38]
Chr8:133673762 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.118G>A (p.Asp40Asn) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002238537]|not provided [RCV003324849] Chr8:132661520 [GRCh38]
Chr8:133673766 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.1392G>C (p.Pro464=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002238520] Chr8:132572315 [GRCh38]
Chr8:133584563 [GRCh37]
Chr8:8q24.22		 benign
NM_012472.6(DNAAF11):c.1284G>A (p.Val428=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002238521] Chr8:132572423 [GRCh38]
Chr8:133584671 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.1141-18G>A single nucleotide variant Primary ciliary dyskinesia 19 [RCV002238522] Chr8:132583797 [GRCh38]
Chr8:133596044 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.996C>A (p.Ile332=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002238523] Chr8:132611342 [GRCh38]
Chr8:133623588 [GRCh37]
Chr8:8q24.22		 likely benign|uncertain significance
NM_012472.6(DNAAF11):c.988T>A (p.Ser330Thr) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002238524]|Primary ciliary dyskinesia [RCV002463129] Chr8:132611350 [GRCh38]
Chr8:133623596 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.976T>A (p.Tyr326Asn) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002238525]|Primary ciliary dyskinesia [RCV002463130] Chr8:132611362 [GRCh38]
Chr8:133623608 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.915-19C>T single nucleotide variant Primary ciliary dyskinesia 19 [RCV002238526] Chr8:132615116 [GRCh38]
Chr8:133627362 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.691G>C (p.Asp231His) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002238531] Chr8:132625417 [GRCh38]
Chr8:133637663 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.654-20del deletion Primary ciliary dyskinesia 19 [RCV002238532] Chr8:132625474 [GRCh38]
Chr8:133637720 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.633C>T (p.Tyr211=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002238533] Chr8:132632760 [GRCh38]
Chr8:133645006 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.178+18G>A single nucleotide variant Primary ciliary dyskinesia 19 [RCV002238534] Chr8:132661442 [GRCh38]
Chr8:133673688 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.147C>G (p.Leu49=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002238535]|Primary ciliary dyskinesia [RCV002463131] Chr8:132661491 [GRCh38]
Chr8:133673737 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.4G>C (p.Gly2Arg) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002238743] Chr8:132675490 [GRCh38]
Chr8:133687736 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.1141-2A>G single nucleotide variant Primary ciliary dyskinesia 19 [RCV001783617] Chr8:132583781 [GRCh38]
Chr8:133596028 [GRCh37]
Chr8:8q24.22		 pathogenic
NM_012472.6(DNAAF11):c.1068A>G (p.Ala356=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002239533] Chr8:132610238 [GRCh38]
Chr8:133622484 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.1027G>A (p.Val343Ile) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002239534] Chr8:132611311 [GRCh38]
Chr8:133623557 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.409G>A (p.Ala137Thr) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002239536] Chr8:132637955 [GRCh38]
Chr8:133650201 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.193C>T (p.Leu65Phe) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002239537] Chr8:132656893 [GRCh38]
Chr8:133669139 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128878931-141662233)x3 copy number gain not provided [RCV001795855] Chr8:128878931..141662233 [GRCh37]
Chr8:8q24.21-24.3		 uncertain significance
NM_012472.6(DNAAF11):c.230dup (p.Asn77fs) duplication Primary ciliary dyskinesia 19 [RCV001782401] Chr8:132656855..132656856 [GRCh38]
Chr8:133669101..133669102 [GRCh37]
Chr8:8q24.22		 likely pathogenic
NM_012472.6(DNAAF11):c.1168C>T (p.Arg390Ter) single nucleotide variant not provided [RCV001816500] Chr8:132583752 [GRCh38]
Chr8:133595999 [GRCh37]
Chr8:8q24.22		 pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771) copy number gain not specified [RCV002053797] Chr8:130863093..146295771 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
NM_012472.6(DNAAF11):c.1142del (p.Val381fs) deletion Primary ciliary dyskinesia 19 [RCV002052056] Chr8:132583778 [GRCh38]
Chr8:133596025 [GRCh37]
Chr8:8q24.22		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NC_000008.10:g.(?_133141509)_(134296554_?)dup duplication Benign neonatal seizures [RCV001938899] Chr8:133141509..134296554 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
NM_012472.6(DNAAF11):c.1A>G (p.Met1Val) single nucleotide variant Primary ciliary dyskinesia 19 [RCV003115882] Chr8:132675493 [GRCh38]
Chr8:133687739 [GRCh37]
Chr8:8q24.22		 pathogenic
NM_012472.6(DNAAF11):c.974+41C>G single nucleotide variant not provided [RCV003129353] Chr8:132614997 [GRCh38]
Chr8:133627243 [GRCh37]
Chr8:8q24.22		 likely benign
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NM_012472.6(DNAAF11):c.106C>G (p.Leu36Val) single nucleotide variant Primary ciliary dyskinesia [RCV002460658] Chr8:132661532 [GRCh38]
Chr8:133673778 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.802A>G (p.Met268Val) single nucleotide variant Primary ciliary dyskinesia [RCV002460705] Chr8:132625306 [GRCh38]
Chr8:133637552 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8q23.3-24.22(chr8:112234557-133668379)x1 copy number loss not provided [RCV002474553] Chr8:112234557..133668379 [GRCh37]
Chr8:8q23.3-24.22		 pathogenic
NM_012472.6(DNAAF11):c.1268A>G (p.His423Arg) single nucleotide variant Primary ciliary dyskinesia [RCV002460503] Chr8:132572439 [GRCh38]
Chr8:133584687 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.1390C>T (p.Pro464Ser) single nucleotide variant Inborn genetic diseases [RCV002840406] Chr8:132572317 [GRCh38]
Chr8:133584565 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.1142T>A (p.Val381Glu) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002751150] Chr8:132583778 [GRCh38]
Chr8:133596025 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.10+7C>T single nucleotide variant Primary ciliary dyskinesia 19 [RCV002862043] Chr8:132675477 [GRCh38]
Chr8:133687723 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.1335C>G (p.Pro445=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002971291] Chr8:132572372 [GRCh38]
Chr8:133584620 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.935A>T (p.Asp312Val) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002903988] Chr8:132615077 [GRCh38]
Chr8:133627323 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.326T>G (p.Leu109Trp) single nucleotide variant Primary ciliary dyskinesia 19 [RCV003014861] Chr8:132638038 [GRCh38]
Chr8:133650284 [GRCh37]
Chr8:8q24.22		 likely pathogenic|uncertain significance
NM_012472.6(DNAAF11):c.1059C>T (p.Val353=) single nucleotide variant Primary ciliary dyskinesia [RCV002461417] Chr8:132610247 [GRCh38]
Chr8:133622493 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.1133T>C (p.Met378Thr) single nucleotide variant Primary ciliary dyskinesia [RCV002463284] Chr8:132610173 [GRCh38]
Chr8:133622419 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.48_49insCTTTGT (p.Asn16_Asp17insLeuCys) insertion Primary ciliary dyskinesia 19 [RCV002863026] Chr8:132661589..132661590 [GRCh38]
Chr8:133673835..133673836 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.1011A>G (p.Gln337=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002993786] Chr8:132611327 [GRCh38]
Chr8:133623573 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.837-11C>A single nucleotide variant Primary ciliary dyskinesia 19 [RCV002858539] Chr8:132622699 [GRCh38]
Chr8:133634945 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.873G>C (p.Leu291Phe) single nucleotide variant Primary ciliary dyskinesia 19 [RCV003097594] Chr8:132622652 [GRCh38]
Chr8:133634898 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.1024C>T (p.Arg342Ter) single nucleotide variant Primary ciliary dyskinesia 19 [RCV003653635]|Primary ciliary dyskinesia [RCV002461458] Chr8:132611314 [GRCh38]
Chr8:133623560 [GRCh37]
Chr8:8q24.22		 pathogenic
NM_012472.6(DNAAF11):c.738_745dup (p.Phe249fs) duplication Primary ciliary dyskinesia [RCV002463318] Chr8:132625362..132625363 [GRCh38]
Chr8:133637608..133637609 [GRCh37]
Chr8:8q24.22		 pathogenic
NM_012472.6(DNAAF11):c.1325G>A (p.Arg442Gln) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002755158] Chr8:132572382 [GRCh38]
Chr8:133584630 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.328C>T (p.Gln110Ter) single nucleotide variant Primary ciliary dyskinesia [RCV002461521] Chr8:132638036 [GRCh38]
Chr8:133650282 [GRCh37]
Chr8:8q24.22		 pathogenic
NM_012472.6(DNAAF11):c.969C>G (p.Val323=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV003081464] Chr8:132615043 [GRCh38]
Chr8:133627289 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.915-11G>A single nucleotide variant Primary ciliary dyskinesia 19 [RCV002637462] Chr8:132615108 [GRCh38]
Chr8:133627354 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.940G>A (p.Glu314Lys) single nucleotide variant Inborn genetic diseases [RCV002870287] Chr8:132615072 [GRCh38]
Chr8:133627318 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.481G>T (p.Asp161Tyr) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002870905] Chr8:132632912 [GRCh38]
Chr8:133645158 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.845del (p.Lys282fs) deletion Primary ciliary dyskinesia 19 [RCV003058397] Chr8:132622680 [GRCh38]
Chr8:133634926 [GRCh37]
Chr8:8q24.22		 pathogenic
NM_012472.6(DNAAF11):c.1021G>A (p.Val341Met) single nucleotide variant Inborn genetic diseases [RCV002893804] Chr8:132611317 [GRCh38]
Chr8:133623563 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.306G>A (p.Glu102=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002875794] Chr8:132638058 [GRCh38]
Chr8:133650304 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.714G>T (p.Lys238Asn) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002876007] Chr8:132625394 [GRCh38]
Chr8:133637640 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.272C>A (p.Ala91Glu) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002918561] Chr8:132638092 [GRCh38]
Chr8:133650338 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.10+6C>A single nucleotide variant Primary ciliary dyskinesia 19 [RCV002720202] Chr8:132675478 [GRCh38]
Chr8:133687724 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.939C>T (p.Asn313=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002602695] Chr8:132615073 [GRCh38]
Chr8:133627319 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.80C>T (p.Ser27Leu) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002647494] Chr8:132661558 [GRCh38]
Chr8:133673804 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.1271C>T (p.Ser424Leu) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002895510] Chr8:132572436 [GRCh38]
Chr8:133584684 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.1317C>G (p.Pro439=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002807230] Chr8:132572390 [GRCh38]
Chr8:133584638 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.47A>T (p.Asn16Ile) single nucleotide variant Primary ciliary dyskinesia 19 [RCV003088839] Chr8:132661591 [GRCh38]
Chr8:133673837 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.1117C>A (p.His373Asn) single nucleotide variant Inborn genetic diseases [RCV002941010] Chr8:132610189 [GRCh38]
Chr8:133622435 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.974+1G>T single nucleotide variant Primary ciliary dyskinesia 19 [RCV003065482] Chr8:132615037 [GRCh38]
Chr8:133627283 [GRCh37]
Chr8:8q24.22		 pathogenic
NM_012472.6(DNAAF11):c.901G>A (p.Val301Met) single nucleotide variant Primary ciliary dyskinesia 19 [RCV002937531] Chr8:132622624 [GRCh38]
Chr8:133634870 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.1140+6T>A single nucleotide variant Primary ciliary dyskinesia 19 [RCV003050525] Chr8:132610160 [GRCh38]
Chr8:133622406 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.681A>G (p.Leu227=) single nucleotide variant Primary ciliary dyskinesia [RCV003176500] Chr8:132625427 [GRCh38]
Chr8:133637673 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.1173A>G (p.Ala391=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV003649433]|Primary ciliary dyskinesia [RCV003176501] Chr8:132583747 [GRCh38]
Chr8:133595994 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.1054C>G (p.Leu352Val) single nucleotide variant Inborn genetic diseases [RCV003195479] Chr8:132610252 [GRCh38]
Chr8:133622498 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.1178A>C (p.Lys393Thr) single nucleotide variant Inborn genetic diseases [RCV003209551] Chr8:132583742 [GRCh38]
Chr8:133595989 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.836+2T>G single nucleotide variant not provided [RCV003324961] Chr8:132625270 [GRCh38]
Chr8:133637516 [GRCh37]
Chr8:8q24.22		 likely pathogenic
NM_012472.6(DNAAF11):c.674A>T (p.Asp225Val) single nucleotide variant not provided [RCV003321392] Chr8:132625434 [GRCh38]
Chr8:133637680 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.429_429+15del deletion DNAAF11-related condition [RCV003397602] Chr8:132637920..132637935 [GRCh38]
Chr8:133650166..133650181 [GRCh37]
Chr8:8q24.22		 likely pathogenic
NM_012472.6(DNAAF11):c.853G>C (p.Val285Leu) single nucleotide variant DNAAF11-related condition [RCV003395763]|Primary ciliary dyskinesia [RCV003377111] Chr8:132622672 [GRCh38]
Chr8:133634918 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.1148A>T (p.Glu383Val) single nucleotide variant DNAAF11-related condition [RCV003395764]|Primary ciliary dyskinesia [RCV003377122] Chr8:132583772 [GRCh38]
Chr8:133596019 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.1138A>C (p.Lys380Gln) single nucleotide variant Primary ciliary dyskinesia 19 [RCV003535020]|Primary ciliary dyskinesia [RCV003377700] Chr8:132610168 [GRCh38]
Chr8:133622414 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8q24.22-24.23(chr8:131958531-136738670)x1 copy number loss not provided [RCV003483040] Chr8:131958531..136738670 [GRCh37]
Chr8:8q24.22-24.23		 uncertain significance
NM_012472.6(DNAAF11):c.1141-7A>G single nucleotide variant Primary ciliary dyskinesia 19 [RCV003652849] Chr8:132583786 [GRCh38]
Chr8:133596033 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.1386G>A (p.Val462=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV003880078] Chr8:132572321 [GRCh38]
Chr8:133584569 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.996C>T (p.Ile332=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV003653076] Chr8:132611342 [GRCh38]
Chr8:133623588 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.108A>G (p.Leu36=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV003654165] Chr8:132661530 [GRCh38]
Chr8:133673776 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.81G>A (p.Ser27=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV003653797] Chr8:132661557 [GRCh38]
Chr8:133673803 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.1140+11T>A single nucleotide variant Primary ciliary dyskinesia 19 [RCV003652515] Chr8:132610155 [GRCh38]
Chr8:133622401 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.974+9A>G single nucleotide variant Primary ciliary dyskinesia 19 [RCV003649794] Chr8:132615029 [GRCh38]
Chr8:133627275 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.654-20G>T single nucleotide variant Primary ciliary dyskinesia 19 [RCV003652414] Chr8:132625474 [GRCh38]
Chr8:133637720 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.837-9A>G single nucleotide variant Primary ciliary dyskinesia 19 [RCV003652840] Chr8:132622697 [GRCh38]
Chr8:133634943 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.372A>C (p.Pro124=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV003649761] Chr8:132637992 [GRCh38]
Chr8:133650238 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.836+20G>A single nucleotide variant Primary ciliary dyskinesia 19 [RCV003651788] Chr8:132625252 [GRCh38]
Chr8:133637498 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.10+12T>A single nucleotide variant Primary ciliary dyskinesia 19 [RCV003653010] Chr8:132675472 [GRCh38]
Chr8:133687718 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.451G>T (p.Glu151Ter) single nucleotide variant Primary ciliary dyskinesia 19 [RCV003649542] Chr8:132632942 [GRCh38]
Chr8:133645188 [GRCh37]
Chr8:8q24.22		 pathogenic
NM_012472.6(DNAAF11):c.845dup (p.Lys283fs) duplication Primary ciliary dyskinesia 19 [RCV003652428] Chr8:132622679..132622680 [GRCh38]
Chr8:133634925..133634926 [GRCh37]
Chr8:8q24.22		 pathogenic
NM_012472.6(DNAAF11):c.756G>A (p.Lys252=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV003650125] Chr8:132625352 [GRCh38]
Chr8:133637598 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.1167G>A (p.Gln389=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV003652841] Chr8:132583753 [GRCh38]
Chr8:133596000 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.726C>T (p.Asn242=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV003649699] Chr8:132625382 [GRCh38]
Chr8:133637628 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.98T>C (p.Ile33Thr) single nucleotide variant Primary ciliary dyskinesia 19 [RCV003535353] Chr8:132661540 [GRCh38]
Chr8:133673786 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_012472.6(DNAAF11):c.55_56del (p.Val19fs) microsatellite Primary ciliary dyskinesia 19 [RCV003839280] Chr8:132661582..132661583 [GRCh38]
Chr8:133673828..133673829 [GRCh37]
Chr8:8q24.22		 pathogenic
NM_012472.6(DNAAF11):c.1226+17C>T single nucleotide variant Primary ciliary dyskinesia 19 [RCV003537739] Chr8:132583677 [GRCh38]
Chr8:133595924 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.1272A>G (p.Ser424=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV003536873] Chr8:132572435 [GRCh38]
Chr8:133584683 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.179-16T>G single nucleotide variant Primary ciliary dyskinesia 19 [RCV003537783] Chr8:132656923 [GRCh38]
Chr8:133669169 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.1392G>A (p.Pro464=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV003538963] Chr8:132572315 [GRCh38]
Chr8:133584563 [GRCh37]
Chr8:8q24.22		 benign
NM_012472.6(DNAAF11):c.48C>T (p.Asn16=) single nucleotide variant Primary ciliary dyskinesia 19 [RCV003539044] Chr8:132661590 [GRCh38]
Chr8:133673836 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.429+13T>A single nucleotide variant Primary ciliary dyskinesia 19 [RCV003536537] Chr8:132637922 [GRCh38]
Chr8:133650168 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.1226+10T>A single nucleotide variant Primary ciliary dyskinesia 19 [RCV003861258] Chr8:132583684 [GRCh38]
Chr8:133595931 [GRCh37]
Chr8:8q24.22		 likely benign
NM_012472.6(DNAAF11):c.403G>T (p.Val135Leu) single nucleotide variant Primary ciliary dyskinesia 19 [RCV003863347] Chr8:132637961 [GRCh38]
Chr8:133650207 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_012472.6(DNAAF11):c.654-1G>T single nucleotide variant Primary ciliary dyskinesia 19 [RCV003868011] Chr8:132625455 [GRCh38]
Chr8:133637701 [GRCh37]
Chr8:8q24.22		 likely pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 copy number gain not provided [RCV003885521] Chr8:113392581..146364022 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1271
Count of miRNA genes:648
Interacting mature miRNAs:719
Transcripts:ENST00000250173, ENST00000518101, ENST00000518642, ENST00000519085, ENST00000519595, ENST00000520446, ENST00000521430, ENST00000522584, ENST00000522597, ENST00000522789, ENST00000523503
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
STS-T91224  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,681,055 - 133,681,200UniSTSGRCh37
Build 368133,750,237 - 133,750,382RGDNCBI36
Celera8129,855,864 - 129,856,009RGD
Cytogenetic Map8q24.22UniSTS
HuRef8128,999,530 - 128,999,675UniSTS
GeneMap99-GB4 RH Map8515.47UniSTS
NCBI RH Map81518.7UniSTS
RH70686  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,584,433 - 133,584,563UniSTSGRCh37
Build 368133,653,615 - 133,653,745RGDNCBI36
Celera8129,759,238 - 129,759,368RGD
Cytogenetic Map8q24.22UniSTS
HuRef8128,902,965 - 128,903,095UniSTS
GeneMap99-GB4 RH Map8513.03UniSTS
NCBI RH Map81517.6UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 17 71 390 4 75 4 4 6 180 99 453 374 3
Low 2299 2564 1172 455 1262 299 3419 1223 3510 299 970 1173 168 1 1202 1898 2
Below cutoff 111 350 161 160 190 158 917 946 41 21 29 53 4 2 873 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_073525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF216667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF257497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL041128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG204280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM981867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU674822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA426602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA310108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA359044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA570320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA789153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR002710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OP794605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000250173   ⟹   ENSP00000250173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8132,572,201 - 132,675,559 (-)Ensembl
RefSeq Acc Id: ENST00000518101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8132,643,380 - 132,675,580 (-)Ensembl
RefSeq Acc Id: ENST00000518642   ⟹   ENSP00000428610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8132,572,199 - 132,675,559 (-)Ensembl
RefSeq Acc Id: ENST00000519085   ⟹   ENSP00000429158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8132,608,405 - 132,622,688 (-)Ensembl
RefSeq Acc Id: ENST00000519595   ⟹   ENSP00000429791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8132,572,070 - 132,675,592 (-)Ensembl
RefSeq Acc Id: ENST00000520446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8132,625,272 - 132,675,592 (-)Ensembl
RefSeq Acc Id: ENST00000521430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8132,638,052 - 132,675,525 (-)Ensembl
RefSeq Acc Id: ENST00000522584   ⟹   ENSP00000429811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8132,637,985 - 132,675,558 (-)Ensembl
RefSeq Acc Id: ENST00000522597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8132,572,425 - 132,622,793 (-)Ensembl
RefSeq Acc Id: ENST00000522789   ⟹   ENSP00000428015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8132,572,199 - 132,625,387 (-)Ensembl
RefSeq Acc Id: ENST00000523503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8132,625,312 - 132,675,559 (-)Ensembl
RefSeq Acc Id: ENST00000618342   ⟹   ENSP00000484802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8132,571,953 - 132,661,667 (-)Ensembl
RefSeq Acc Id: ENST00000620350   ⟹   ENSP00000484634
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8132,570,416 - 132,675,545 (-)Ensembl
RefSeq Acc Id: NM_001321961   ⟹   NP_001308890
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,570,416 - 132,675,545 (-)NCBI
CHM1_18133,623,460 - 133,728,649 (-)NCBI
T2T-CHM13v2.08133,693,703 - 133,798,832 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321962   ⟹   NP_001308891
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,570,416 - 132,675,545 (-)NCBI
CHM1_18133,623,460 - 133,728,649 (-)NCBI
T2T-CHM13v2.08133,693,703 - 133,798,832 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321963   ⟹   NP_001308892
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,570,416 - 132,675,545 (-)NCBI
CHM1_18133,623,460 - 133,728,514 (-)NCBI
T2T-CHM13v2.08133,693,703 - 133,798,832 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321964   ⟹   NP_001308893
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,570,416 - 132,675,545 (-)NCBI
CHM1_18133,623,460 - 133,728,473 (-)NCBI
T2T-CHM13v2.08133,693,703 - 133,798,832 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321965   ⟹   NP_001308894
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,570,416 - 132,675,545 (-)NCBI
CHM1_18133,623,460 - 133,728,473 (-)NCBI
T2T-CHM13v2.08133,693,703 - 133,798,832 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321966   ⟹   NP_001308895
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,570,416 - 132,675,545 (-)NCBI
CHM1_18133,623,460 - 133,728,557 (-)NCBI
T2T-CHM13v2.08133,693,703 - 133,798,832 (-)NCBI
Sequence:
RefSeq Acc Id: NM_012472   ⟹   NP_036604
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,570,416 - 132,675,545 (-)NCBI
GRCh378133,584,201 - 133,687,863 (-)NCBI
Build 368133,653,629 - 133,756,995 (-)NCBI Archive
Celera8129,759,252 - 129,862,622 (-)RGD
HuRef8128,902,733 - 129,006,332 (-)NCBI
CHM1_18133,623,460 - 133,728,649 (-)NCBI
T2T-CHM13v2.08133,693,703 - 133,798,832 (-)NCBI
Sequence:
RefSeq Acc Id: NR_073525
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,570,416 - 132,675,545 (-)NCBI
HuRef8128,902,733 - 129,006,332 (-)NCBI
CHM1_18133,623,460 - 133,728,649 (-)NCBI
T2T-CHM13v2.08133,693,703 - 133,798,832 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135905
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,570,416 - 132,675,545 (-)NCBI
CHM1_18133,623,460 - 133,728,649 (-)NCBI
T2T-CHM13v2.08133,693,703 - 133,798,832 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135906
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,570,416 - 132,675,545 (-)NCBI
CHM1_18133,623,460 - 133,728,649 (-)NCBI
T2T-CHM13v2.08133,693,703 - 133,798,832 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135907
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,570,416 - 132,675,545 (-)NCBI
CHM1_18133,623,460 - 133,728,649 (-)NCBI
T2T-CHM13v2.08133,693,703 - 133,798,832 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135908
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,570,416 - 132,675,545 (-)NCBI
CHM1_18133,623,460 - 133,728,649 (-)NCBI
T2T-CHM13v2.08133,693,703 - 133,798,832 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135909
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,570,416 - 132,675,545 (-)NCBI
CHM1_18133,623,460 - 133,728,557 (-)NCBI
T2T-CHM13v2.08133,693,703 - 133,798,832 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135910
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,570,416 - 132,675,545 (-)NCBI
CHM1_18133,623,460 - 133,728,514 (-)NCBI
T2T-CHM13v2.08133,693,703 - 133,798,832 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135911
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,570,416 - 132,675,545 (-)NCBI
CHM1_18133,623,460 - 133,728,473 (-)NCBI
T2T-CHM13v2.08133,693,703 - 133,798,832 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135912
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,570,416 - 132,675,545 (-)NCBI
CHM1_18133,623,460 - 133,728,473 (-)NCBI
T2T-CHM13v2.08133,693,703 - 133,798,832 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135913
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,570,416 - 132,675,545 (-)NCBI
CHM1_18133,623,460 - 133,728,473 (-)NCBI
T2T-CHM13v2.08133,693,703 - 133,798,832 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716538   ⟹   XP_006716601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,570,416 - 132,702,565 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516950   ⟹   XP_011515252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,570,416 - 132,702,903 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013296   ⟹   XP_016868785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,570,416 - 132,661,428 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047421656   ⟹   XP_047277612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,607,631 - 132,702,908 (-)NCBI
RefSeq Acc Id: XM_047421657   ⟹   XP_047277613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,607,631 - 132,675,545 (-)NCBI
RefSeq Acc Id: XM_047421658   ⟹   XP_047277614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,607,631 - 132,702,913 (-)NCBI
RefSeq Acc Id: XM_047421659   ⟹   XP_047277615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,607,631 - 132,675,545 (-)NCBI
RefSeq Acc Id: XM_047421660   ⟹   XP_047277616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,570,416 - 132,661,485 (-)NCBI
RefSeq Acc Id: XM_054360228   ⟹   XP_054216203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08133,693,703 - 133,826,388 (-)NCBI
RefSeq Acc Id: XM_054360229   ⟹   XP_054216204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08133,693,703 - 133,826,200 (-)NCBI
RefSeq Acc Id: XM_054360230   ⟹   XP_054216205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08133,693,703 - 133,784,716 (-)NCBI
RefSeq Acc Id: XM_054360231   ⟹   XP_054216206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08133,730,919 - 133,826,205 (-)NCBI
RefSeq Acc Id: XM_054360232   ⟹   XP_054216207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08133,730,919 - 133,798,832 (-)NCBI
RefSeq Acc Id: XM_054360233   ⟹   XP_054216208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08133,730,919 - 133,826,210 (-)NCBI
RefSeq Acc Id: XM_054360234   ⟹   XP_054216209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08133,730,919 - 133,798,832 (-)NCBI
RefSeq Acc Id: XM_054360235   ⟹   XP_054216210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08133,693,703 - 133,784,773 (-)NCBI
RefSeq Acc Id: XR_007060728
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,610,231 - 132,702,907 (-)NCBI
RefSeq Acc Id: XR_008487834
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08133,733,519 - 133,826,204 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001308890 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308891 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308892 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308893 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308894 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308895 (Get FASTA)   NCBI Sequence Viewer  
  NP_036604 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716601 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515252 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868785 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277612 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277613 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277614 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277615 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277616 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216203 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216204 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216205 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216206 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216207 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216208 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216209 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216210 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH27589 (Get FASTA)   NCBI Sequence Viewer  
  AAH47286 (Get FASTA)   NCBI Sequence Viewer  
  EAW92143 (Get FASTA)   NCBI Sequence Viewer  
  EAW92144 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000250173.2
  ENSP00000428015.1
  ENSP00000428610.1
  ENSP00000429158.1
  ENSP00000429791.1
  ENSP00000429811.1
  ENSP00000484634
  ENSP00000484634.1
GenBank Protein Q86X45 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_036604   ⟸   NM_012472
- Peptide Label: isoform a
- UniProtKB: Q13648 (UniProtKB/Swiss-Prot),   Q4G183 (UniProtKB/Swiss-Prot),   Q86X45 (UniProtKB/Swiss-Prot),   G5EA20 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006716601   ⟸   XM_006716538
- Peptide Label: isoform X1
- UniProtKB: G5EA20 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515252   ⟸   XM_011516950
- Peptide Label: isoform X2
- UniProtKB: G5EA20 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308891   ⟸   NM_001321962
- Peptide Label: isoform c
- UniProtKB: Q86X45 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308890   ⟸   NM_001321961
- Peptide Label: isoform b
- UniProtKB: G5EA20 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308895   ⟸   NM_001321966
- Peptide Label: isoform e
- UniProtKB: Q86X45 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308892   ⟸   NM_001321963
- Peptide Label: isoform d
- UniProtKB: Q86X45 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308893   ⟸   NM_001321964
- Peptide Label: isoform d
- UniProtKB: Q86X45 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308894   ⟸   NM_001321965
- Peptide Label: isoform d
- UniProtKB: Q86X45 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016868785   ⟸   XM_017013296
- Peptide Label: isoform X3
- UniProtKB: G5EA20 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000484634   ⟸   ENST00000620350
RefSeq Acc Id: ENSP00000428610   ⟸   ENST00000518642
RefSeq Acc Id: ENSP00000429158   ⟸   ENST00000519085
RefSeq Acc Id: ENSP00000429791   ⟸   ENST00000519595
RefSeq Acc Id: ENSP00000429811   ⟸   ENST00000522584
RefSeq Acc Id: ENSP00000428015   ⟸   ENST00000522789
RefSeq Acc Id: ENSP00000484802   ⟸   ENST00000618342
RefSeq Acc Id: ENSP00000250173   ⟸   ENST00000250173
RefSeq Acc Id: XP_047277616   ⟸   XM_047421660
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047277614   ⟸   XM_047421658
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047277612   ⟸   XM_047421656
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047277615   ⟸   XM_047421659
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047277613   ⟸   XM_047421657
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054216203   ⟸   XM_054360228
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054216204   ⟸   XM_054360229
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054216210   ⟸   XM_054360235
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054216205   ⟸   XM_054360230
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054216208   ⟸   XM_054360233
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054216206   ⟸   XM_054360231
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054216209   ⟸   XM_054360234
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054216207   ⟸   XM_054360232
- Peptide Label: isoform X5
Protein Domains
CS   LRRCT   U2A'/phosphoprotein 32 family A C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86X45-F1-model_v2 AlphaFold Q86X45 1-466 view protein structure

Promoters
RGD ID:7214199
Promoter ID:EPDNEW_H12846
Type:initiation region
Name:LRRC6_1
Description:leucine rich repeat containing 6
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
GRCh388132,675,542 - 132,675,602EPDNEW
RGD ID:6806847
Promoter ID:HG_KWN:62124
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562
Transcripts:NM_012472,   UC003YTL.1,   UC010MDU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368133,756,744 - 133,757,244 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16725 AgrOrtholog
COSMIC DNAAF11 COSMIC
Ensembl Genes ENSG00000129295 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000250173.5 UniProtKB/TrEMBL
  ENST00000518642.5 UniProtKB/TrEMBL
  ENST00000519085.5 UniProtKB/TrEMBL
  ENST00000519595.5 UniProtKB/Swiss-Prot
  ENST00000522584.5 UniProtKB/TrEMBL
  ENST00000522789.5 UniProtKB/TrEMBL
  ENST00000620350 ENTREZGENE
  ENST00000620350.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000129295 GTEx
HGNC ID HGNC:16725 ENTREZGENE
Human Proteome Map DNAAF11 Human Proteome Map
InterPro CS_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HSP20-like_chaperone UniProtKB/TrEMBL
  Leu-rich_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt_4 UniProtKB/TrEMBL
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  U2A'_phosphoprotein32A_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23639 UniProtKB/Swiss-Prot
NCBI Gene 23639 ENTREZGENE
OMIM 614930 OMIM
PANTHER CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 410-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LEUCINE RICH REPEAT PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LRR_4 UniProtKB/TrEMBL
  LRR_9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE LRR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS51203 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LRR_SD22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRcap UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP L domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49764 UniProtKB/TrEMBL
UniProt E5RHF9_HUMAN UniProtKB/TrEMBL
  G5EA20 ENTREZGENE, UniProtKB/TrEMBL
  H0YAS5_HUMAN UniProtKB/TrEMBL
  H0YBC4_HUMAN UniProtKB/TrEMBL
  Q13648 ENTREZGENE
  Q4G183 ENTREZGENE
  Q86X45 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q13648 UniProtKB/Swiss-Prot
  Q4G183 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-01-25 DNAAF11  dynein axonemal assembly factor 11  LRRC6  leucine rich repeat containing 6  Symbol and/or name change 19259463 PROVISIONAL