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
Description: Involved in several processes, including cilium assembly; epithelial cilium movement involved in determination of left/right asymmetry; and flagellated sperm motility. Localizes to cilium and cytoplasm. Implicated in primary ciliary dyskinesia 19.
Type: protein-coding
RefSeq Status: REVIEWED
Also 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 Genes
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
GRCh38.p13 Ensembl8132,570,416 - 132,675,592 (-)EnsemblGRCh38hg38GRCh38
GRCh388132,570,416 - 132,685,039 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378133,582,664 - 133,687,791 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368133,653,629 - 133,756,995 (-)NCBINCBI36hg18NCBI36
Build 348133,653,630 - 133,756,995NCBI
Celera8129,759,252 - 129,862,622 (-)NCBI
Cytogenetic Map8q24.22NCBI
HuRef8128,902,733 - 129,006,332 (-)NCBIHuRef
CHM1_18133,623,460 - 133,728,649 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Human Phenotype
References

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  


Genomics

Comparative Map Data
DNAAF11
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8132,570,416 - 132,675,592 (-)EnsemblGRCh38hg38GRCh38
GRCh388132,570,416 - 132,685,039 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378133,582,664 - 133,687,791 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368133,653,629 - 133,756,995 (-)NCBINCBI36hg18NCBI36
Build 348133,653,630 - 133,756,995NCBI
Celera8129,759,252 - 129,862,622 (-)NCBI
Cytogenetic Map8q24.22NCBI
HuRef8128,902,733 - 129,006,332 (-)NCBIHuRef
CHM1_18133,623,460 - 133,728,649 (-)NCBICHM1_1
Lrrc6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391566,251,707 - 66,372,769 (-)NCBIGRCm39mm39
GRCm39 Ensembl1566,251,707 - 66,372,759 (-)Ensembl
GRCm381566,379,858 - 66,500,921 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1566,379,858 - 66,500,910 (-)EnsemblGRCm38mm10GRCm38
MGSCv371566,211,420 - 66,332,472 (-)NCBIGRCm37mm9NCBIm37
MGSCv361566,209,527 - 66,330,510 (-)NCBImm8
Celera1567,903,643 - 68,032,794 (-)NCBICelera
Cytogenetic Map15D1NCBI
Dnaaf11
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2798,141,525 - 98,245,906 (-)NCBI
Rnor_6.0 Ensembl7107,130,402 - 107,223,047 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07107,130,402 - 107,231,507 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07107,265,345 - 107,276,742 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.07107,073,711 - 107,174,936 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47103,747,640 - 103,851,124 (-)NCBIRGSC3.4rn4RGSC3.4
Celera794,698,248 - 94,798,326 (-)NCBICelera
Cytogenetic Map7q34NCBI
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
PanPan1.18132,199,607 - 132,305,351 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8132,199,607 - 132,305,351 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08129,223,591 - 129,329,535 (-)NCBIMhudiblu_PPA_v0panPan3
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 (-)NCBI
ROS_Cfam_1.01329,482,884 - 29,553,592 (-)NCBI
UMICH_Zoey_3.11329,209,949 - 29,280,586 (-)NCBI
UNSW_CanFamBas_1.01329,309,966 - 29,380,707 (-)NCBI
UU_Cfam_GSD_1.01329,622,148 - 29,692,826 (-)NCBI
Dnaaf11
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053039,131,239 - 9,214,410 (+)NCBI
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 - 8,608,587 (+)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 - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18127,010,303 - 127,103,343 (-)NCBI
ChlSab1.1 Ensembl8127,008,619 - 127,103,300 (-)Ensembl
Dnaaf11
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473523,269,253 - 23,355,832 (+)NCBI

Position Markers
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

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.


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
GenBank Nucleotide AF216667 (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
  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

Reference Sequences
RefSeq Acc Id: ENST00000250173   ⟹   ENSP00000250173
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,572,201 - 132,675,559 (-)Ensembl
RefSeq Acc Id: ENST00000518101
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,643,380 - 132,675,580 (-)Ensembl
RefSeq Acc Id: ENST00000518642   ⟹   ENSP00000428610
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,572,199 - 132,675,559 (-)Ensembl
RefSeq Acc Id: ENST00000519085   ⟹   ENSP00000429158
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,608,405 - 132,622,688 (-)Ensembl
RefSeq Acc Id: ENST00000519595   ⟹   ENSP00000429791
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,572,070 - 132,675,592 (-)Ensembl
RefSeq Acc Id: ENST00000520446
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,625,272 - 132,675,592 (-)Ensembl
RefSeq Acc Id: ENST00000521430
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,638,052 - 132,675,525 (-)Ensembl
RefSeq Acc Id: ENST00000522584   ⟹   ENSP00000429811
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,637,985 - 132,675,558 (-)Ensembl
RefSeq Acc Id: ENST00000522597
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,572,425 - 132,622,793 (-)Ensembl
RefSeq Acc Id: ENST00000522789   ⟹   ENSP00000428015
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,572,199 - 132,625,387 (-)Ensembl
RefSeq Acc Id: ENST00000523503
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,625,312 - 132,675,559 (-)Ensembl
RefSeq Acc Id: ENST00000618342   ⟹   ENSP00000484802
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,571,953 - 132,661,667 (-)Ensembl
RefSeq Acc Id: ENST00000620350   ⟹   ENSP00000484634
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Sequence:
RefSeq Acc Id: XM_006716538   ⟹   XP_006716601
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,570,419 - 132,685,039 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516950   ⟹   XP_011515252
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,570,419 - 132,685,039 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013296   ⟹   XP_016868785
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,570,419 - 132,661,427 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013297   ⟹   XP_016868786
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,570,419 - 132,675,525 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013298   ⟹   XP_016868787
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388132,570,419 - 132,675,558 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_036604   ⟸   NM_012472
- Peptide Label: isoform a
- UniProtKB: Q86X45 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006716601   ⟸   XM_006716538
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011515252   ⟸   XM_011516950
- Peptide Label: isoform X2
- 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: Q86X45 (UniProtKB/Swiss-Prot)
- 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_016868787   ⟸   XM_017013298
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016868786   ⟸   XM_017013297
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016868785   ⟸   XM_017013296
- Peptide Label: isoform X3
- 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
Protein Domains
CS   LRRcap   LRRCT

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

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012472.6(DNAAF11):c.27T>G (p.Ile9Met) single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV000525213]|Infertility [RCV001327950] Chr8:132661611 [GRCh38]
Chr8:133673857 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_012472.6(DNAAF11):c.598_599del (p.Lys200fs) deletion Ciliary dyskinesia, primary, 19 [RCV000033016] Chr8:132632794..132632795 [GRCh38]
Chr8:133645040..133645041 [GRCh37]
Chr8:8q24.22
pathogenic
NM_012472.6(DNAAF11):c.576dup (p.Glu193fs) duplication Ciliary dyskinesia, primary, 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 Ciliary dyskinesia, primary, 19 [RCV000033017] Chr8:132632819 [GRCh38]
Chr8:133645065 [GRCh37]
Chr8:8q24.22
pathogenic
NM_012472.6(DNAAF11):c.220G>C (p.Ala74Pro) single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV000033019] Chr8:132656866 [GRCh38]
Chr8:133669112 [GRCh37]
Chr8:8q24.22
pathogenic
NM_012472.6(DNAAF11):c.436G>C (p.Asp146His) single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV000033020] 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 Ciliary dyskinesia, primary, 19 [RCV000056271] Chr8:132632831 [GRCh38]
Chr8:133645077 [GRCh37]
Chr8:8q24.22
pathogenic
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 Ciliary dyskinesia, primary, 19 [RCV000056270]|Inborn genetic diseases [RCV000624140]|Kartagener syndrome [RCV000190917] Chr8:132632763 [GRCh38]
Chr8:133645009 [GRCh37]
Chr8:8q24.22
pathogenic
NM_012472.6(DNAAF11):c.1084_1086AGT[1] (p.Ser364del) microsatellite Ciliary dyskinesia, primary, 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 Ciliary dyskinesia, primary, 19 [RCV001164737]|not specified [RCV000243610] Chr8:132637956 [GRCh38]
Chr8:133650202 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_012472.6(DNAAF11):c.1397T>C (p.Ile466Thr) single nucleotide variant Primary ciliary dyskinesia [RCV000346088]|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 Ciliary dyskinesia, primary, 19 [RCV001085911]|not provided [RCV000767176]|not specified [RCV000243911] Chr8:132572316 [GRCh38]
Chr8:133584564 [GRCh37]
Chr8:8q24.22
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012472.6(DNAAF11):c.283C>T (p.Leu95=) single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV000540372]|Primary ciliary dyskinesia [RCV000265673]|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 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 Ciliary dyskinesia, primary, 19 [RCV000551333]|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 Ciliary dyskinesia, primary, 19 [RCV000526419]|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 Ciliary dyskinesia, primary, 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 Ciliary dyskinesia, primary, 19 [RCV000551113]|Primary ciliary dyskinesia [RCV000391294]|not specified [RCV000252589] Chr8:132583758 [GRCh38]
Chr8:133596005 [GRCh37]
Chr8:8q24.22
benign|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 Ciliary dyskinesia, primary, 19 [RCV000613925]|Primary ciliary dyskinesia [RCV000391302]|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 Ciliary dyskinesia, primary, 19 [RCV000555246]|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 Ciliary dyskinesia, primary, 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 Ciliary dyskinesia, primary, 19 [RCV000349818] Chr8:132583742 [GRCh38]
Chr8:133595989 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_012472.6(DNAAF11):c.974+14C>A single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV000353374] Chr8:132615024 [GRCh38]
Chr8:133627270 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_012472.6(DNAAF11):c.1109C>G (p.Thr370Arg) single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV000650321] Chr8:132610197 [GRCh38]
Chr8:133622443 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_012472.6(DNAAF11):c.611C>T (p.Ala204Val) single nucleotide variant Ciliary dyskinesia, primary, 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 Ciliary dyskinesia, primary, 19 [RCV000553224] Chr8:132615063 [GRCh38]
Chr8:133627309 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_012472.6(DNAAF11):c.1300G>A (p.Glu434Lys) single nucleotide variant Ciliary dyskinesia, primary, 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 Ciliary dyskinesia, primary, 19 [RCV000558055] 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 Ciliary dyskinesia, primary, 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 Ciliary dyskinesia, primary, 19 [RCV000650320] Chr8:132675492 [GRCh38]
Chr8:133687738 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_012472.6(DNAAF11):c.633C>A (p.Tyr211Ter) single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV000650322] Chr8:132632760 [GRCh38]
Chr8:133645006 [GRCh37]
Chr8:8q24.22
pathogenic
NM_012472.6(DNAAF11):c.668G>A (p.Ser223Asn) single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV000650323] Chr8:132625440 [GRCh38]
Chr8:133637686 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_012472.6(DNAAF11):c.77_78TC[1] (p.Ser27fs) microsatellite Ciliary dyskinesia, primary, 19 [RCV000650325] 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 Ciliary dyskinesia, primary, 19 [RCV000650326] Chr8:132610256 [GRCh38]
Chr8:133622502 [GRCh37]
Chr8:8q24.22
pathogenic
NM_012472.6(DNAAF11):c.299T>C (p.Ile100Thr) single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV000650327] Chr8:132638065 [GRCh38]
Chr8:133650311 [GRCh37]
Chr8:8q24.22
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_012472.6(DNAAF11):c.863C>A (p.Pro288His) single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV000650328] Chr8:132622662 [GRCh38]
Chr8:133634908 [GRCh37]
Chr8:8q24.22
benign
NM_012472.6(DNAAF11):c.873G>A (p.Leu291=) single nucleotide variant Ciliary dyskinesia, primary, 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 Ciliary dyskinesia, primary, 19 [RCV000650330] Chr8:132632819 [GRCh38]
Chr8:133645065 [GRCh37]
Chr8:8q24.22
likely benign|conflicting interpretations of pathogenicity
NM_012472.6(DNAAF11):c.675C>A (p.Asp225Glu) single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV000539154] Chr8:132625433 [GRCh38]
Chr8:133637679 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_012472.6(DNAAF11):c.1140+10G>A single nucleotide variant Ciliary dyskinesia, primary, 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 Ciliary dyskinesia, primary, 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 Ciliary dyskinesia, primary, 19 [RCV000707176] Chr8:132632749 [GRCh38]
Chr8:133644995 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_012472.6(DNAAF11):c.1013C>T (p.Pro338Leu) single nucleotide variant Ciliary dyskinesia, primary, 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 Ciliary dyskinesia, primary, 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 Ciliary dyskinesia, primary, 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 Ciliary dyskinesia, primary, 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 Ciliary dyskinesia, primary, 19 [RCV001164633] Chr8:132572109 [GRCh38]
Chr8:133584357 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_012472.6(DNAAF11):c.42A>G (p.Glu14=) single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV000898531] Chr8:132661596 [GRCh38]
Chr8:133673842 [GRCh37]
Chr8:8q24.22
likely benign
NM_012472.6(DNAAF11):c.1020C>T (p.Tyr340=) single nucleotide variant not provided [RCV000946051] Chr8:132611318 [GRCh38]
Chr8:133623564 [GRCh37]
Chr8:8q24.22
likely benign
NM_012472.6(DNAAF11):c.1281T>C (p.Asp427=) single nucleotide variant not provided [RCV000905128] Chr8:132572426 [GRCh38]
Chr8:133584674 [GRCh37]
Chr8:8q24.22
likely benign
NM_012472.6(DNAAF11):c.232A>G (p.Ile78Val) single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV001332967]|not provided [RCV000959424] Chr8:132656854 [GRCh38]
Chr8:133669100 [GRCh37]
Chr8:8q24.22
likely benign|uncertain significance
NM_012472.6(DNAAF11):c.831A>G (p.Lys277=) single nucleotide variant Ciliary dyskinesia, primary, 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 Ciliary dyskinesia, primary, 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 not provided [RCV000898163] Chr8:132637995 [GRCh38]
Chr8:133650241 [GRCh37]
Chr8:8q24.22
likely benign
NM_012472.6(DNAAF11):c.186T>C (p.Val62=) single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV000886493] Chr8:132656900 [GRCh38]
Chr8:133669146 [GRCh37]
Chr8:8q24.22
likely benign
NM_012472.6(DNAAF11):c.1226+6A>G single nucleotide variant Ciliary dyskinesia, primary, 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 Ciliary dyskinesia, primary, 19 [RCV000929944] 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 Ciliary dyskinesia, primary, 19 [RCV000797917] Chr8:132611341 [GRCh38]
Chr8:133623587 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_012472.6(DNAAF11):c.936_937del (p.Asp312fs) deletion Ciliary dyskinesia, primary, 19 [RCV000809959] Chr8:132615075..132615076 [GRCh38]
Chr8:133627321..133627322 [GRCh37]
Chr8:8q24.22
pathogenic
NM_012472.6(DNAAF11):c.1324C>T (p.Arg442Ter) single nucleotide variant Ciliary dyskinesia, primary, 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 Ciliary dyskinesia, primary, 19 [RCV000820114] Chr8:132611317 [GRCh38]
Chr8:133623563 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_012472.6(DNAAF11):c.10+1G>A single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV000808662] Chr8:132675483 [GRCh38]
Chr8:133687729 [GRCh37]
Chr8:8q24.22
pathogenic
NM_012472.6(DNAAF11):c.6C>A (p.Gly2=) single nucleotide variant Ciliary dyskinesia, primary, 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 Ciliary dyskinesia, primary, 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 Ciliary dyskinesia, primary, 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 Ciliary dyskinesia, primary, 19 [RCV001066754] Chr8:132583693 [GRCh38]
Chr8:133595940 [GRCh37]
Chr8:8q24.22
pathogenic
NM_012472.6(DNAAF11):c.719T>C (p.Leu240Ser) single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV001164736] Chr8:132625389 [GRCh38]
Chr8:133637635 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_012472.6(DNAAF11):c.914+3A>G single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV000809278] Chr8:132622608 [GRCh38]
Chr8:133634854 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_012472.6(DNAAF11):c.837-10C>G single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV000810910] Chr8:132622698 [GRCh38]
Chr8:133634944 [GRCh37]
Chr8:8q24.22
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 Ciliary dyskinesia, primary, 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 Ciliary dyskinesia, primary, 19 [RCV001224609] Chr8:132625426 [GRCh38]
Chr8:133637672 [GRCh37]
Chr8:8q24.22
pathogenic
NM_012472.6(DNAAF11):c.28A>G (p.Arg10Gly) single nucleotide variant Ciliary dyskinesia, primary, 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 Ciliary dyskinesia, primary, 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 Ciliary dyskinesia, primary, 19 [RCV001159711] Chr8:132572113 [GRCh38]
Chr8:133584361 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_012472.6(DNAAF11):c.*63C>A single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV001159715] Chr8:132572243 [GRCh38]
Chr8:133584491 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_012472.6(DNAAF11):c.*5T>G single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV001159717] Chr8:132572301 [GRCh38]
Chr8:133584549 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_012472.6(DNAAF11):c.234T>G (p.Ile78Met) single nucleotide variant Ciliary dyskinesia, primary, 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.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 Ciliary dyskinesia, primary, 19 [RCV000951798] Chr8:132661607 [GRCh38]
Chr8:133673853 [GRCh37]
Chr8:8q24.22
likely benign|conflicting interpretations of pathogenicity
NM_012472.6(DNAAF11):c.340C>T (p.His114Tyr) single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV001239011] Chr8:132638024 [GRCh38]
Chr8:133650270 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_012472.6(DNAAF11):c.814C>T (p.Arg272Trp) single nucleotide variant Ciliary dyskinesia, primary, 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 Ciliary dyskinesia, primary, 19 [RCV001159823] Chr8:132661589 [GRCh38]
Chr8:133673835 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_012472.6(DNAAF11):c.645T>C (p.Asn215=) single nucleotide variant not provided [RCV000891106] Chr8:132632748 [GRCh38]
Chr8:133644994 [GRCh37]
Chr8:8q24.22
likely benign
NM_012472.6(DNAAF11):c.*73A>T single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV001159713] Chr8:132572233 [GRCh38]
Chr8:133584481 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_012472.6(DNAAF11):c.*32C>A single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV001159716] Chr8:132572274 [GRCh38]
Chr8:133584522 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_012472.6(DNAAF11):c.*179A>G single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV001159712] Chr8:132572127 [GRCh38]
Chr8:133584375 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_012472.6(DNAAF11):c.*68T>G single nucleotide variant Ciliary dyskinesia, primary, 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 Ciliary dyskinesia, primary, 19 [RCV001161119] Chr8:132583697 [GRCh38]
Chr8:133595944 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_012472.6(DNAAF11):c.523G>T (p.Asp175Tyr) single nucleotide variant Ciliary dyskinesia, primary, 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 Ciliary dyskinesia, primary, 19 [RCV001035550] Chr8:132632855 [GRCh38]
Chr8:133645101 [GRCh37]
Chr8:8q24.22
pathogenic
NM_012472.6(DNAAF11):c.178+13A>G single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV001159822] Chr8:132661447 [GRCh38]
Chr8:133673693 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_012472.6(DNAAF11):c.*239T>C single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV001164632] Chr8:132572067 [GRCh38]
Chr8:133584315 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_012472.6(DNAAF11):c.32G>A (p.Arg11Gln) single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV001048785] Chr8:132661606 [GRCh38]
Chr8:133673852 [GRCh37]
Chr8:8q24.22
uncertain significance
NM_012472.6(DNAAF11):c.1044+12C>A single nucleotide variant Ciliary dyskinesia, primary, 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 Ciliary dyskinesia, primary, 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
NM_012472.6(DNAAF11):c.354_355del (p.Phe119fs) microsatellite Primary ciliary dyskinesia [RCV001255258] Chr8:132638009..132638010 [GRCh38]
Chr8:133650255..133650256 [GRCh37]
Chr8:8q24.22
likely pathogenic
NM_012472.6(DNAAF11):c.145C>G (p.Leu49Val) single nucleotide variant Ciliary dyskinesia, primary, 19 [RCV001327633] Chr8:132661493 [GRCh38]
Chr8:133673739 [GRCh37]
Chr8:8q24.22
uncertain significance

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 Protein ENSP00000250173 UniProtKB/TrEMBL
  ENSP00000428015 UniProtKB/TrEMBL
  ENSP00000428610 UniProtKB/TrEMBL
  ENSP00000429158 UniProtKB/TrEMBL
  ENSP00000429791 UniProtKB/Swiss-Prot
  ENSP00000429811 UniProtKB/TrEMBL
  ENSP00000484634 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000484802 UniProtKB/TrEMBL
Ensembl Transcript ENST00000250173 UniProtKB/TrEMBL
  ENST00000518642 UniProtKB/TrEMBL
  ENST00000519085 UniProtKB/TrEMBL
  ENST00000519595 UniProtKB/Swiss-Prot
  ENST00000522584 UniProtKB/TrEMBL
  ENST00000522789 UniProtKB/TrEMBL
  ENST00000618342 UniProtKB/TrEMBL
  ENST00000620350 ENTREZGENE, 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
  614935 OMIM
Pfam LRR_4 UniProtKB/TrEMBL
PharmGKB PA134921522 PharmGKB
PROSITE LRR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS51203 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LRRcap UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49764 UniProtKB/TrEMBL
UniProt A0A087X298_HUMAN UniProtKB/TrEMBL
  E5RHF9_HUMAN UniProtKB/TrEMBL
  G5EA20_HUMAN UniProtKB/TrEMBL
  H0YAS5_HUMAN UniProtKB/TrEMBL
  H0YBC4_HUMAN UniProtKB/TrEMBL
  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