DYNLT2B (dynein light chain Tctex-type 2B) - Rat Genome Database

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Gene: DYNLT2B (dynein light chain Tctex-type 2B) Homo sapiens
Analyze
Symbol: DYNLT2B
Name: dynein light chain Tctex-type 2B
RGD ID: 1604497
HGNC Page HGNC:28482
Description: Enables dynein intermediate chain binding activity. Involved in cilium organization; regulation of cilium assembly; and regulation of intraciliary retrograde transport. Located in ciliary base and cytoskeleton. Part of cytoplasmic dynein complex. Implicated in asphyxiating thoracic dystrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: dynein light chain Tctex-type protein 2B; MGC33212; SRTD17; Tctex1 domain containing 2; tctex1 domain-containing protein 2; TCTEX1D2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383196,291,219 - 196,318,240 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3196,291,219 - 196,318,299 (-)EnsemblGRCh38hg38GRCh38
GRCh373196,018,090 - 196,045,111 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363197,502,495 - 197,529,542 (-)NCBINCBI36Build 36hg18NCBI36
Celera3194,599,369 - 194,625,623 (-)NCBICelera
Cytogenetic Map3q29NCBI
HuRef3193,315,227 - 193,342,065 (-)NCBIHuRef
CHM1_13195,988,915 - 196,015,992 (-)NCBICHM1_1
T2T-CHM13v2.03199,010,707 - 199,037,779 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:20195357   PMID:21873635   PMID:21900206   PMID:22990118   PMID:25205765   PMID:25830415   PMID:25910212   PMID:26044572   PMID:26186194   PMID:26638075  
PMID:27173435   PMID:28514442   PMID:28611215   PMID:28718761   PMID:29742051   PMID:31391242   PMID:32296183   PMID:33961781   PMID:35271311  


Genomics

Comparative Map Data
DYNLT2B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383196,291,219 - 196,318,240 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3196,291,219 - 196,318,299 (-)EnsemblGRCh38hg38GRCh38
GRCh373196,018,090 - 196,045,111 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363197,502,495 - 197,529,542 (-)NCBINCBI36Build 36hg18NCBI36
Celera3194,599,369 - 194,625,623 (-)NCBICelera
Cytogenetic Map3q29NCBI
HuRef3193,315,227 - 193,342,065 (-)NCBIHuRef
CHM1_13195,988,915 - 196,015,992 (-)NCBICHM1_1
T2T-CHM13v2.03199,010,707 - 199,037,779 (-)NCBIT2T-CHM13v2.0
Dynlt2b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391632,238,520 - 32,247,917 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1632,238,520 - 32,247,917 (+)EnsemblGRCm39 Ensembl
GRCm381632,419,702 - 32,429,099 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1632,419,702 - 32,429,099 (+)EnsemblGRCm38mm10GRCm38
MGSCv371632,419,788 - 32,428,978 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361632,339,491 - 32,348,845 (+)NCBIMGSCv36mm8
Celera1632,903,898 - 32,913,071 (+)NCBICelera
Cytogenetic Map16B3NCBI
cM Map1622.69NCBI
Dynlt2b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81181,864,195 - 81,872,555 (-)NCBIGRCr8
mRatBN7.21168,359,138 - 68,367,573 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1168,358,263 - 68,367,499 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1177,196,193 - 77,204,553 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01169,860,905 - 69,869,271 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01168,885,307 - 68,893,667 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01171,593,302 - 71,601,662 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1171,593,302 - 71,601,662 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01174,678,025 - 74,686,385 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41170,175,484 - 70,183,844 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1167,791,755 - 67,800,115 (-)NCBICelera
Cytogenetic Map11q22NCBI
Dynlt2b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542012,515,195 - 12,528,861 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542012,515,195 - 12,528,863 (-)NCBIChiLan1.0ChiLan1.0
DYNLT2B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22194,162,023 - 194,190,929 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13194,166,741 - 194,195,647 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03193,636,238 - 193,665,254 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13203,580,040 - 203,607,193 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3203,580,040 - 203,607,189 (-)Ensemblpanpan1.1panPan2
DYNLT2B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13329,414,484 - 29,430,439 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3329,438,720 - 29,458,096 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03329,647,899 - 29,667,241 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3329,647,895 - 29,667,239 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13329,435,103 - 29,454,371 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03329,488,952 - 29,508,396 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03330,111,622 - 30,131,184 (-)NCBIUU_Cfam_GSD_1.0
Dynlt2b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602124,930,228 - 124,944,969 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936784940,168 - 955,412 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936784940,300 - 954,959 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DYNLT2B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13133,774,574 - 133,800,038 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113133,774,548 - 133,798,920 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
DYNLT2B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11590,867,250 - 90,902,064 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1590,867,322 - 90,902,667 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604164,689,281 - 64,716,174 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dynlt2b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473061,467,510 - 61,479,756 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473061,467,262 - 61,479,848 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DYNLT2B
59 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q29(chr3:196013486-197590232)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050877]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050877]|See cases [RCV000050877] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196013486-197590232)x1 copy number loss See cases [RCV000050878] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:197224754..198801500 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 3q29(chr3:196013486-197503306)x3 copy number gain See cases [RCV000051013] Chr3:196013486..197503306 [GRCh38]
Chr3:195740357..197230177 [GRCh37]
Chr3:197224754..198714574 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 copy number gain See cases [RCV000051736] Chr3:178411707..198110319 [GRCh38]
Chr3:178129495..197837190 [GRCh37]
Chr3:179612189..199321587 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3 copy number gain See cases [RCV000051739] Chr3:189265371..198110178 [GRCh38]
Chr3:188983160..197837049 [GRCh37]
Chr3:190465854..199321446 [NCBI36]
Chr3:3q28-29		 pathogenic
GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1 copy number loss See cases [RCV000051608] Chr3:185485849..198110178 [GRCh38]
Chr3:185203637..197837049 [GRCh37]
Chr3:186686331..199321446 [NCBI36]
Chr3:3q27.2-29		 pathogenic
GRCh38/hg38 3q29(chr3:196077857-197165715)x1 copy number loss See cases [RCV000051202] Chr3:196077857..197165715 [GRCh38]
Chr3:195804728..196892586 [GRCh37]
Chr3:197289125..198376983 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q27.2-29(chr3:185920880-198110319)x3 copy number gain See cases [RCV000051738] Chr3:185920880..198110319 [GRCh38]
Chr3:185638668..197837190 [GRCh37]
Chr3:187121362..199321587 [NCBI36]
Chr3:3q27.2-29		 pathogenic
GRCh38/hg38 3q29(chr3:193917490-198110319)x3 copy number gain See cases [RCV000051741] Chr3:193917490..198110319 [GRCh38]
Chr3:193635279..197837190 [GRCh37]
Chr3:195117973..199321587 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:194424496-198168758)x3 copy number gain See cases [RCV000051742] Chr3:194424496..198168758 [GRCh38]
Chr3:194145225..197895629 [GRCh37]
Chr3:195626514..199380026 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:195917073-196336765)x3 copy number gain See cases [RCV000053542] Chr3:195917073..196336765 [GRCh38]
Chr3:195643944..196063636 [GRCh37]
Chr3:197128341..197548033 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3 copy number gain See cases [RCV000051740] Chr3:190667663..198110178 [GRCh38]
Chr3:190385452..197837049 [GRCh37]
Chr3:191868146..199321446 [NCBI36]
Chr3:3q28-29		 pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29		 pathogenic
GRCh38/hg38 3q29(chr3:196035777-197658540)x1 copy number loss See cases [RCV000053114] Chr3:196035777..197658540 [GRCh38]
Chr3:195762648..197385411 [GRCh37]
Chr3:197247045..198869808 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196035777-197625573)x1 copy number loss See cases [RCV000053115] Chr3:196035777..197625573 [GRCh38]
Chr3:195762648..197352444 [GRCh37]
Chr3:197247045..198836841 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196077857-197693741)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053125]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053125]|See cases [RCV000053125] Chr3:196077857..197693741 [GRCh38]
Chr3:195804728..197420612 [GRCh37]
Chr3:197289125..198905009 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196280954-197590232)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053126]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053126]|See cases [RCV000053126] Chr3:196280954..197590232 [GRCh38]
Chr3:196007825..197317103 [GRCh37]
Chr3:197492222..198801500 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:195896948-198110178)x3 copy number gain See cases [RCV000053541] Chr3:195896948..198110178 [GRCh38]
Chr3:195623819..197837049 [GRCh37]
Chr3:197108216..199321446 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:195755702-197583580)x3 copy number gain See cases [RCV000053853] Chr3:195755702..197583580 [GRCh38]
Chr3:195482573..197310451 [GRCh37]
Chr3:196968244..198794848 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:195965316-197625573)x3 copy number gain See cases [RCV000053854] Chr3:195965316..197625573 [GRCh38]
Chr3:195692187..197352444 [GRCh37]
Chr3:197176584..198836841 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:195972720-197658495)x3 copy number gain See cases [RCV000053855] Chr3:195972720..197658495 [GRCh38]
Chr3:195699591..197385366 [GRCh37]
Chr3:197183988..198869763 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q29(chr3:195711798-197976152)x3 copy number gain See cases [RCV000053540] Chr3:195711798..197976152 [GRCh38]
Chr3:195438669..197703023 [GRCh37]
Chr3:196924340..199187420 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:195997494-197662231)x3 copy number gain See cases [RCV000053856] Chr3:195997494..197662231 [GRCh38]
Chr3:195724365..197389102 [GRCh37]
Chr3:197208762..198873499 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196035777-197606438)x3 copy number gain See cases [RCV000053857] Chr3:196035777..197606438 [GRCh38]
Chr3:195762648..197333309 [GRCh37]
Chr3:197247045..198817706 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196035777-197662231)x3 copy number gain See cases [RCV000053858] Chr3:196035777..197662231 [GRCh38]
Chr3:195762648..197389102 [GRCh37]
Chr3:197247045..198873499 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196013486-197590232)x3 copy number gain See cases [RCV000050877] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:197224754..198801500 [NCBI36]
Chr3:3q29		 pathogenic
NM_152773.5(DYNLT2B):c.317+4A>T single nucleotide variant Asphyxiating thoracic dystrophy 3 [RCV000256484]|Short-rib thoracic dysplasia 17 with or without polydactyly [RCV004021043] Chr3:196306939 [GRCh38]
Chr3:196033810 [GRCh37]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:195711798-198110178)x3 copy number gain See cases [RCV000137110] Chr3:195711798..198110178 [GRCh38]
Chr3:195438669..197837049 [GRCh37]
Chr3:196924340..199321446 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:195955711-197597912)x1 copy number loss See cases [RCV000138878] Chr3:195955711..197597912 [GRCh38]
Chr3:195682582..197324783 [GRCh37]
Chr3:197166979..198809180 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196013531-197590232)x1 copy number loss See cases [RCV000138573] Chr3:196013531..197590232 [GRCh38]
Chr3:195740402..197317103 [GRCh37]
Chr3:197224799..198801500 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:195998419-197629463)x3 copy number gain See cases [RCV000141750] Chr3:195998419..197629463 [GRCh38]
Chr3:195725290..197356334 [GRCh37]
Chr3:197209687..198840731 [NCBI36]
Chr3:3q29		 conflicting data from submitters
GRCh38/hg38 3q29(chr3:196013486-197597912)x1 copy number loss See cases [RCV000143053] Chr3:196013486..197597912 [GRCh38]
Chr3:195740357..197324783 [GRCh37]
Chr3:197224754..198809180 [NCBI36]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:194498718-196196789)x1 copy number loss not provided [RCV001270643] Chr3:194498718..196196789 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195997397-196053790)x3 copy number gain See cases [RCV000449164] Chr3:195997397..196053790 [GRCh37]
Chr3:3q29		 likely benign
GRCh37/hg19 3q29(chr3:195780280-197299752)x1 copy number loss See cases [RCV000449089] Chr3:195780280..197299752 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195739427-197356334)x3 copy number gain See cases [RCV000449371] Chr3:195739427..197356334 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195690227-197356334)x1 copy number loss See cases [RCV000446216] Chr3:195690227..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195780280-196264407)x3 copy number gain See cases [RCV000445896] Chr3:195780280..196264407 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197344176)x1 copy number loss See cases [RCV000449002] Chr3:195725290..197344176 [GRCh37]
Chr3:3q29		 pathogenic
NM_152773.5(DYNLT2B):c.100delinsCT (p.Val34fs) indel Short-rib thoracic dysplasia 17 with or without polydactyly [RCV000477719] Chr3:196318053 [GRCh38]
Chr3:196044924 [GRCh37]
Chr3:3q29		 pathogenic
NM_152773.5(DYNLT2B):c.113+2C>G single nucleotide variant Short-rib thoracic dysplasia 17 with or without polydactyly [RCV000477741] Chr3:196318038 [GRCh38]
Chr3:196044909 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197344176)x1 copy number loss See cases [RCV000510774] Chr3:195725290..197344176 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195456034-197356334)x3 copy number gain See cases [RCV000512582] Chr3:195456034..197356334 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3 copy number gain not provided [RCV000682336] Chr3:182539234..197851986 [GRCh37]
Chr3:3q26.33-29		 pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3 copy number gain not provided [RCV000682341] Chr3:186374365..197851986 [GRCh37]
Chr3:3q27.3-29		 pathogenic
GRCh37/hg19 3q29(chr3:195891339-196137752)x1 copy number loss not provided [RCV000682358] Chr3:195891339..196137752 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195700698-197386180)x3 copy number gain not provided [RCV000846898] Chr3:195700698..197386180 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3 copy number gain See cases [RCV000790566] Chr3:188386566..197838262 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:195848341-196426606)x3 copy number gain not provided [RCV001005502] Chr3:195848341..196426606 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152773.5(DYNLT2B):c.381+127A>G single nucleotide variant not provided [RCV001659170] Chr3:196295879 [GRCh38]
Chr3:196022750 [GRCh37]
Chr3:3q29		 benign
NM_152773.5(DYNLT2B):c.113+186G>A single nucleotide variant not provided [RCV001620843] Chr3:196317854 [GRCh38]
Chr3:196044725 [GRCh37]
Chr3:3q29		 benign
GRCh37/hg19 3q29(chr3:195068028-197851986)x3 copy number gain not provided [RCV001259831] Chr3:195068028..197851986 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195419168-197387258) copy number gain Atypical behavior [RCV001291957] Chr3:195419168..197387258 [GRCh37]
Chr3:3q29		 pathogenic
NC_000003.11:g.(?_195925166)_(196083717_?)dup duplication not provided [RCV001315261] Chr3:195925166..196083717 [GRCh37]
Chr3:3q29		 uncertain significance
NC_000003.11:g.(?_195754030)_(196438852_?)dup duplication not provided [RCV001314246] Chr3:195754030..196438852 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152773.5(DYNLT2B):c.113+17C>G single nucleotide variant Short-rib thoracic dysplasia 17 with or without polydactyly [RCV001816023]|not provided [RCV001716690] Chr3:196318023 [GRCh38]
Chr3:196044894 [GRCh37]
Chr3:3q29		 benign
Single allele deletion Chromosome 3q29 microdeletion syndrome [RCV002247703] Chr3:195833012..197340883 [GRCh38]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q28-29(chr3:191866466-197842171)x1 copy number loss not provided [RCV001795848] Chr3:191866466..197842171 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:194790394-197961930)x3 copy number gain Chromosome 3q29 microdeletion syndrome [RCV001801188] Chr3:194790394..197961930 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195914129-196804639)x1 copy number loss not provided [RCV001827937] Chr3:195914129..196804639 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195993691-197851986)x3 copy number gain not provided [RCV001827845] Chr3:195993691..197851986 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3 copy number gain See cases [RCV002286344] Chr3:183498520..197851986 [GRCh37]
Chr3:3q27.1-29		 pathogenic
NM_152773.5(DYNLT2B):c.248-20dup duplication not provided [RCV002838825] Chr3:196307031..196307032 [GRCh38]
Chr3:196033902..196033903 [GRCh37]
Chr3:3q29		 likely benign
NM_152773.5(DYNLT2B):c.356A>G (p.Asn119Ser) single nucleotide variant not provided [RCV003081637] Chr3:196296031 [GRCh38]
Chr3:196022902 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152773.5(DYNLT2B):c.120G>A (p.Arg40=) single nucleotide variant not provided [RCV002740124] Chr3:196316225 [GRCh38]
Chr3:196043096 [GRCh37]
Chr3:3q29		 likely benign
NM_152773.5(DYNLT2B):c.11C>T (p.Ser4Phe) single nucleotide variant not provided [RCV003079547] Chr3:196318142 [GRCh38]
Chr3:196045013 [GRCh37]
Chr3:3q29		 benign
NM_152773.5(DYNLT2B):c.161A>G (p.Glu54Gly) single nucleotide variant not provided [RCV002890236] Chr3:196316184 [GRCh38]
Chr3:196043055 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152773.5(DYNLT2B):c.36C>T (p.Gly12=) single nucleotide variant not provided [RCV002597939] Chr3:196318117 [GRCh38]
Chr3:196044988 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152773.5(DYNLT2B):c.10T>A (p.Ser4Thr) single nucleotide variant not provided [RCV003009330]|not specified [RCV004068416] Chr3:196318143 [GRCh38]
Chr3:196045014 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152773.5(DYNLT2B):c.104dup (p.Gln36fs) duplication not provided [RCV002607676] Chr3:196318048..196318049 [GRCh38]
Chr3:196044919..196044920 [GRCh37]
Chr3:3q29		 pathogenic
NM_152773.5(DYNLT2B):c.100G>C (p.Val34Leu) single nucleotide variant not provided [RCV002607677] Chr3:196318053 [GRCh38]
Chr3:196044924 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152773.5(DYNLT2B):c.318-12T>C single nucleotide variant not provided [RCV002587372] Chr3:196296081 [GRCh38]
Chr3:196022952 [GRCh37]
Chr3:3q29		 likely benign
GRCh38/hg38 3q29(chr3:195950438-197629463) copy number loss See cases [RCV003223585] Chr3:195950438..197629463 [GRCh38]
Chr3:3q29		 pathogenic
NM_152773.5(DYNLT2B):c.361A>G (p.Thr121Ala) single nucleotide variant not specified [RCV004345801] Chr3:196296026 [GRCh38]
Chr3:196022897 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152773.5(DYNLT2B):c.141T>C (p.Cys47=) single nucleotide variant not provided [RCV003699877] Chr3:196316204 [GRCh38]
Chr3:196043075 [GRCh37]
Chr3:3q29		 likely benign
Single allele duplication not provided [RCV003448704] Chr3:176412210..197847235 [GRCh37]
Chr3:3q26.32-29		 pathogenic
NM_152773.5(DYNLT2B):c.247+13A>C single nucleotide variant not provided [RCV003829727] Chr3:196316085 [GRCh38]
Chr3:196042956 [GRCh37]
Chr3:3q29		 likely benign
NM_152773.5(DYNLT2B):c.114-16A>G single nucleotide variant not provided [RCV003665213] Chr3:196316247 [GRCh38]
Chr3:196043118 [GRCh37]
Chr3:3q29		 likely benign
NM_152773.5(DYNLT2B):c.113+6T>C single nucleotide variant Short-rib thoracic dysplasia 17 with or without polydactyly [RCV003988786] Chr3:196318034 [GRCh38]
Chr3:196044905 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195106447-197846145)x3 copy number gain not provided [RCV004577475] Chr3:195106447..197846145 [GRCh37]
Chr3:3q29		 pathogenic
NM_152773.5(DYNLT2B):c.382-7T>C single nucleotide variant not provided [RCV005065812] Chr3:196291381 [GRCh38]
Chr3:196018252 [GRCh37]
Chr3:3q29		 likely benign
NM_152773.5(DYNLT2B):c.177T>C (p.Ala59=) single nucleotide variant not provided [RCV005083762] Chr3:196316168 [GRCh38]
Chr3:196043039 [GRCh37]
Chr3:3q29		 likely benign
NM_152773.5(DYNLT2B):c.193G>T (p.Glu65Ter) single nucleotide variant not provided [RCV005140476] Chr3:196316152 [GRCh38]
Chr3:196043023 [GRCh37]
Chr3:3q29		 pathogenic
NM_152773.5(DYNLT2B):c.221C>G (p.Ser74Ter) single nucleotide variant not provided [RCV005130409] Chr3:196316124 [GRCh38]
Chr3:196042995 [GRCh37]
Chr3:3q29		 pathogenic
NM_152773.5(DYNLT2B):c.17G>T (p.Gly6Val) single nucleotide variant not provided [RCV005069268] Chr3:196318136 [GRCh38]
Chr3:196045007 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:194338534-197693741)x1 copy number loss See cases [RCV000136517] Chr3:194338534..197693741 [GRCh38]
Chr3:194059263..197420612 [GRCh37]
Chr3:195540958..198905009 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29		 pathogenic
GRCh38/hg38 3q29(chr3:195974291-197597912)x1 copy number loss See cases [RCV000137696] Chr3:195974291..197597912 [GRCh38]
Chr3:195701162..197324783 [GRCh37]
Chr3:197185559..198809180 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic|likely benign
GRCh38/hg38 3q29(chr3:192752937-198118383)x3 copy number gain See cases [RCV000137827] Chr3:192752937..198118383 [GRCh38]
Chr3:192470726..197845254 [GRCh37]
Chr3:193953420..199329651 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q29(chr3:194296197-198110198)x3 copy number gain See cases [RCV000138492] Chr3:194296197..198110198 [GRCh38]
Chr3:194013986..197837069 [GRCh37]
Chr3:195496680..199321466 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197612399)x1 copy number loss See cases [RCV000141008] Chr3:196013486..197612399 [GRCh38]
Chr3:195740357..197339270 [GRCh37]
Chr3:197224754..198823667 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q29(chr3:195976744-197629463)x1 copy number loss See cases [RCV000142155] Chr3:195976744..197629463 [GRCh38]
Chr3:195703615..197356334 [GRCh37]
Chr3:197188012..198840731 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29		 pathogenic
GRCh38/hg38 3q29(chr3:195963356-197629463)x3 copy number gain See cases [RCV000143489] Chr3:195963356..197629463 [GRCh38]
Chr3:195690227..197356334 [GRCh37]
Chr3:197174624..198840731 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:193704605-198125115)x3 copy number gain See cases [RCV000143501] Chr3:193704605..198125115 [GRCh38]
Chr3:193422394..197851986 [GRCh37]
Chr3:194905088..199336383 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197590232)x1 copy number loss See cases [RCV000148130] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:197224754..198801500 [NCBI36]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195690241-197299811)x1 copy number loss See cases [RCV000240193] Chr3:195690241..197299811 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195756054-197344665)x1 copy number loss Chromosome 3q29 microdeletion syndrome [RCV000258006] Chr3:195756054..197344665 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29		 pathogenic
GRCh37/hg19 3q26.33-29(chr3:181911498-197851986)x4 copy number gain See cases [RCV000446732] Chr3:181911498..197851986 [GRCh37]
Chr3:3q26.33-29		 pathogenic
GRCh37/hg19 3q29(chr3:195456034-197851986)x3 copy number gain See cases [RCV000448647] Chr3:195456034..197851986 [GRCh37]
Chr3:3q29		 pathogenic
NC_000003.12:g.(?_196011149)_(197606127_?)del deletion Schizophrenia [RCV000416880] Chr3:196011149..197606127 [GRCh38]
Chr3:195738020..197332998 [GRCh37]
Chr3:197222417..198817395 [NCBI36]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197356334)x1 copy number loss See cases [RCV000447960] Chr3:195725290..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29		 pathogenic
GRCh37/hg19 3q29(chr3:195677309-197356334)x3 copy number gain See cases [RCV000512079] Chr3:195677309..197356334 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152773.5(DYNLT2B):c.262C>T (p.Arg88Ter) single nucleotide variant Short-rib thoracic dysplasia 17 with or without polydactyly [RCV000477693]|not provided [RCV001383713] Chr3:196306998 [GRCh38]
Chr3:196033869 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195690227-197356334)x1 copy number loss See cases [RCV000511943] Chr3:195690227..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q29(chr3:195457650-196263123) copy number loss Autism [RCV000626534] Chr3:195457650..196263123 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3 copy number gain not provided [RCV000682339] Chr3:184003967..197851986 [GRCh37]
Chr3:3q27.1-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3 copy number gain not provided [RCV000682344] Chr3:187913567..197851986 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:191593619-197851986)x3 copy number gain not provided [RCV000682346] Chr3:191593619..197851986 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:195703615-197348575)x1 copy number loss not provided [RCV000682353] Chr3:195703615..197348575 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195703615-197356334)x3 copy number gain not provided [RCV000682354] Chr3:195703615..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197015654)x1 copy number loss not provided [RCV000682355] Chr3:195725290..197015654 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197339848)x3 copy number gain not provided [RCV000682356] Chr3:195725290..197339848 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197356334)x3 copy number gain not provided [RCV000682357] Chr3:195725290..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
Single allele duplication Autism [RCV000754277] Chr3:195939900..197632041 [GRCh38]
Chr3:3q29		 likely pathogenic
NC_000003.12:g.(?_195990063)_(197617301_?)del deletion Schizophrenia [RCV000754278] Chr3:195990063..197617301 [GRCh38]
Chr3:3q29		 pathogenic
NC_000003.12:g.(?_196154147)_(197376501_?)del deletion Schizophrenia [RCV000754279] Chr3:196154147..197376501 [GRCh38]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3 copy number gain not provided [RCV000742968] Chr3:173281266..197838262 [GRCh37]
Chr3:3q26.31-29		 pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374671-197838262)x3 copy number gain not provided [RCV000743037] Chr3:186374671..197838262 [GRCh37]
Chr3:3q27.3-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:189101446-197838262)x1 copy number loss not provided [RCV000743049] Chr3:189101446..197838262 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:195677895-197346971)x3 copy number gain not provided [RCV000743106] Chr3:195677895..197346971 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725402-197386693)x1 copy number loss not provided [RCV000743108] Chr3:195725402..197386693 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195738406-197346566)x3 copy number gain not provided [RCV000743109] Chr3:195738406..197346566 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195778594-196278366)x3 copy number gain not provided [RCV000743113] Chr3:195778594..196278366 [GRCh37]
Chr3:3q29		 benign
NM_152773.5(DYNLT2B):c.318-67G>A single nucleotide variant not provided [RCV001667545] Chr3:196296136 [GRCh38]
Chr3:196023007 [GRCh37]
Chr3:3q29		 benign
NC_000003.12:g.(?_196229915)_(196291374_?)dup duplication not provided [RCV001031224] Chr3:195956786..196018245 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152773.5(DYNLT2B):c.57G>A (p.Glu19=) single nucleotide variant DYNLT2B-related disorder [RCV003897937]|not provided [RCV000960021] Chr3:196318096 [GRCh38]
Chr3:196044967 [GRCh37]
Chr3:3q29		 benign|likely benign
NM_152773.5(DYNLT2B):c.328C>T (p.Arg110Cys) single nucleotide variant DYNLT2B-related disorder [RCV003903263]|not provided [RCV000954422] Chr3:196296059 [GRCh38]
Chr3:196022930 [GRCh37]
Chr3:3q29		 likely benign
GRCh37/hg19 3q29(chr3:195701149-197348561)x3 copy number gain not provided [RCV000846762] Chr3:195701149..197348561 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:196016339-196198346)x3 copy number gain not provided [RCV000848743] Chr3:196016339..196198346 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195279196-196022437)x3 copy number gain not provided [RCV000846857] Chr3:195279196..196022437 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195573221-196124278)x3 copy number gain not provided [RCV000847985] Chr3:195573221..196124278 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195652973-197346971)x1 copy number loss See cases [RCV001007436] Chr3:195652973..197346971 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195796048-196145269)x3 copy number gain not provided [RCV001005501] Chr3:195796048..196145269 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152773.5(DYNLT2B):c.114-122dup duplication not provided [RCV001612784] Chr3:196316347..196316348 [GRCh38]
Chr3:196043218..196043219 [GRCh37]
Chr3:3q29		 benign
NM_152773.5(DYNLT2B):c.114-1G>A single nucleotide variant not provided [RCV000908161] Chr3:196316232 [GRCh38]
Chr3:196043103 [GRCh37]
Chr3:3q29		 pathogenic|likely benign|uncertain significance
NM_152773.5(DYNLT2B):c.318-21C>A single nucleotide variant not provided [RCV001691097] Chr3:196296090 [GRCh38]
Chr3:196022961 [GRCh37]
Chr3:3q29		 benign
NM_152773.5(DYNLT2B):c.113+242G>C single nucleotide variant not provided [RCV001709115] Chr3:196317798 [GRCh38]
Chr3:196044669 [GRCh37]
Chr3:3q29		 benign
GRCh37/hg19 3q29(chr3:196033814-196033883) copy number loss Short-rib thoracic dysplasia 17 with or without polydactyly [RCV001004100] Chr3:196033814..196033883 [GRCh37]
Chr3:3q29		 likely pathogenic
NM_152773.5(DYNLT2B):c.26T>C (p.Phe9Ser) single nucleotide variant not provided [RCV003106784] Chr3:196318127 [GRCh38]
Chr3:196044998 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1 copy number loss 3q28q29 deletion syndrome [RCV001786535] Chr3:189608636..197532175 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:196015911-196074214)x1 copy number loss not provided [RCV001259835] Chr3:196015911..196074214 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195747856-197387258) copy number gain Motor delay [RCV001291947] Chr3:195747856..197387258 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195693872-197376871)x3 copy number gain See cases [RCV001526486] Chr3:195693872..197376871 [GRCh37]
Chr3:3q29		 risk factor
NM_152773.5(DYNLT2B):c.247+185A>G single nucleotide variant not provided [RCV001611545] Chr3:196315913 [GRCh38]
Chr3:196042784 [GRCh37]
Chr3:3q29		 benign
NC_000003.11:g.(?_196022857)_(196022960_?)del deletion not provided [RCV003113736] Chr3:196022857..196022960 [GRCh37]
Chr3:3q29		 uncertain significance
NC_000003.11:g.(?_195591052)_(197682644_?)dup duplication not provided [RCV003154915] Chr3:195591052..197682644 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3 copy number gain Isolated anorectal malformation [RCV002286610] Chr3:171558472..197871052 [GRCh37]
Chr3:3q26.31-29		 likely pathogenic
GRCh37/hg19 3q29(chr3:195703615-197386180) copy number loss Chromosome 3q29 microdeletion syndrome [RCV002280743] Chr3:195703615..197386180 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195690228-197356334)x1 copy number loss not provided [RCV002474511] Chr3:195690228..197356334 [GRCh37]
Chr3:3q29		 pathogenic
NM_152773.5(DYNLT2B):c.16G>A (p.Gly6Arg) single nucleotide variant not provided [RCV002614000]|not specified [RCV004065831] Chr3:196318137 [GRCh38]
Chr3:196045008 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152773.5(DYNLT2B):c.275T>C (p.Val92Ala) single nucleotide variant not provided [RCV002731261] Chr3:196306985 [GRCh38]
Chr3:196033856 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152773.5(DYNLT2B):c.248-7T>C single nucleotide variant not provided [RCV002866060] Chr3:196307019 [GRCh38]
Chr3:196033890 [GRCh37]
Chr3:3q29		 likely benign
NM_152773.5(DYNLT2B):c.317+17T>G single nucleotide variant not provided [RCV002685422] Chr3:196306926 [GRCh38]
Chr3:196033797 [GRCh37]
Chr3:3q29		 likely benign
NM_152773.5(DYNLT2B):c.28T>G (p.Ser10Ala) single nucleotide variant not provided [RCV002755334] Chr3:196318125 [GRCh38]
Chr3:196044996 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195790857-196543483)x1 copy number loss not provided [RCV002475616] Chr3:195790857..196543483 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152773.5(DYNLT2B):c.317+5G>A single nucleotide variant DYNLT2B-related disorder [RCV004758236]|not provided [RCV002621411] Chr3:196306938 [GRCh38]
Chr3:196033809 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152773.5(DYNLT2B):c.31G>T (p.Val11Leu) single nucleotide variant not provided [RCV002735832] Chr3:196318122 [GRCh38]
Chr3:196044993 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152773.5(DYNLT2B):c.285A>G (p.Val95=) single nucleotide variant not provided [RCV002735559] Chr3:196306975 [GRCh38]
Chr3:196033846 [GRCh37]
Chr3:3q29		 likely benign
NM_152773.5(DYNLT2B):c.36C>A (p.Gly12=) single nucleotide variant not provided [RCV002569507] Chr3:196318117 [GRCh38]
Chr3:196044988 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152773.5(DYNLT2B):c.329G>A (p.Arg110His) single nucleotide variant not provided [RCV002928470]|not specified [RCV004067162] Chr3:196296058 [GRCh38]
Chr3:196022929 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152773.5(DYNLT2B):c.372T>C (p.Val124=) single nucleotide variant not provided [RCV002667668] Chr3:196296015 [GRCh38]
Chr3:196022886 [GRCh37]
Chr3:3q29		 likely benign
NM_152773.5(DYNLT2B):c.397G>A (p.Val133Ile) single nucleotide variant not provided [RCV002624810] Chr3:196291359 [GRCh38]
Chr3:196018230 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152773.5(DYNLT2B):c.73C>A (p.Pro25Thr) single nucleotide variant not provided [RCV003042162] Chr3:196318080 [GRCh38]
Chr3:196044951 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152773.5(DYNLT2B):c.318-20T>C single nucleotide variant not provided [RCV002701116] Chr3:196296089 [GRCh38]
Chr3:196022960 [GRCh37]
Chr3:3q29		 likely benign
NM_152773.5(DYNLT2B):c.289A>T (p.Ile97Phe) single nucleotide variant not provided [RCV003061203] Chr3:196306971 [GRCh38]
Chr3:196033842 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152773.5(DYNLT2B):c.113+10G>C single nucleotide variant not provided [RCV002602873] Chr3:196318030 [GRCh38]
Chr3:196044901 [GRCh37]
Chr3:3q29		 likely benign
NM_152773.5(DYNLT2B):c.113+2_113+4dup duplication not provided [RCV002676347] Chr3:196318035..196318036 [GRCh38]
Chr3:196044906..196044907 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152773.5(DYNLT2B):c.425A>G (p.Tyr142Cys) single nucleotide variant not provided [RCV002649519] Chr3:196291331 [GRCh38]
Chr3:196018202 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152773.5(DYNLT2B):c.283G>C (p.Val95Leu) single nucleotide variant not provided [RCV002600599] Chr3:196306977 [GRCh38]
Chr3:196033848 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152773.5(DYNLT2B):c.382-5T>C single nucleotide variant not provided [RCV002579873] Chr3:196291379 [GRCh38]
Chr3:196018250 [GRCh37]
Chr3:3q29		 likely benign|uncertain significance
NM_152773.5(DYNLT2B):c.382-28GT[5] microsatellite not provided [RCV002612735] Chr3:196291391..196291392 [GRCh38]
Chr3:196018262..196018263 [GRCh37]
Chr3:3q29		 likely benign
NM_152773.5(DYNLT2B):c.35G>A (p.Gly12Asp) single nucleotide variant Short-rib thoracic dysplasia 17 with or without polydactyly [RCV003140946] Chr3:196318118 [GRCh38]
Chr3:196044989 [GRCh37]
Chr3:3q29		 uncertain significance
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29		 pathogenic
NM_152773.5(DYNLT2B):c.248-11T>G single nucleotide variant not provided [RCV003659212] Chr3:196307023 [GRCh38]
Chr3:196033894 [GRCh37]
Chr3:3q29		 likely benign
GRCh37/hg19 3q29(chr3:195792450-196145838)x3 copy number gain not specified [RCV003986412] Chr3:195792450..196145838 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152773.5(DYNLT2B):c.381+9A>G single nucleotide variant not provided [RCV003682509] Chr3:196295997 [GRCh38]
Chr3:196022868 [GRCh37]
Chr3:3q29		 likely benign
NM_152773.5(DYNLT2B):c.315A>G (p.Val105=) single nucleotide variant not provided [RCV003820352] Chr3:196306945 [GRCh38]
Chr3:196033816 [GRCh37]
Chr3:3q29		 likely benign
GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3 copy number gain See cases [RCV004442807] Chr3:179313373..197851444 [GRCh37]
Chr3:3q26.33-29		 pathogenic
NM_152773.5(DYNLT2B):c.-4dup duplication DYNLT2B-related disorder [RCV003967242] Chr3:196318155..196318156 [GRCh38]
Chr3:196045026..196045027 [GRCh37]
Chr3:3q29		 likely benign
GRCh37/hg19 3q29(chr3:195739427-197340833)x1 copy number loss not provided [RCV004442775] Chr3:195739427..197340833 [GRCh37]
Chr3:3q29		 pathogenic
NM_152773.5(DYNLT2B):c.332G>A (p.Cys111Tyr) single nucleotide variant not specified [RCV004381944] Chr3:196296055 [GRCh38]
Chr3:196022926 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152773.5(DYNLT2B):c.272T>C (p.Met91Thr) single nucleotide variant not specified [RCV004381943] Chr3:196306988 [GRCh38]
Chr3:196033859 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152773.5(DYNLT2B):c.46C>T (p.Pro16Ser) single nucleotide variant not specified [RCV004617336] Chr3:196318107 [GRCh38]
Chr3:196044978 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q26.31-29(chr3:174764228-197851986)x3 copy number gain not provided [RCV004819300] Chr3:174764228..197851986 [GRCh37]
Chr3:3q26.31-29		 pathogenic
NM_152773.5(DYNLT2B):c.61A>T (p.Asn21Tyr) single nucleotide variant not provided [RCV005163868] Chr3:196318092 [GRCh38]
Chr3:196044963 [GRCh37]
Chr3:3q29		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:564
Count of miRNA genes:326
Interacting mature miRNAs:338
Transcripts:ENST00000325318, ENST00000426563, ENST00000431391, ENST00000446494, ENST00000465757, ENST00000491186
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597285391GWAS1381465_HC-reactive protein measurement QTL GWAS1381465 (human)2e-08C-reactive protein measurementblood C-reactive protein level (CMO:0003160)3196317154196317155Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1945 465 2269 7298 6464 53 3734 1 852 1744 1617 174 1

Sequence


Ensembl Acc Id: ENST00000325318   ⟹   ENSP00000324323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,291,219 - 196,318,240 (-)Ensembl
Ensembl Acc Id: ENST00000426563   ⟹   ENSP00000415835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,291,219 - 196,318,214 (-)Ensembl
Ensembl Acc Id: ENST00000446494   ⟹   ENSP00000410605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,291,221 - 196,318,299 (-)Ensembl
Ensembl Acc Id: ENST00000465757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,291,219 - 196,296,306 (-)Ensembl
Ensembl Acc Id: ENST00000491186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,291,219 - 196,292,544 (-)Ensembl
RefSeq Acc Id: NM_001351628   ⟹   NP_001338557
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,291,219 - 196,318,240 (-)NCBI
T2T-CHM13v2.03199,010,707 - 199,037,779 (-)NCBI
Sequence:
RefSeq Acc Id: NM_152773   ⟹   NP_689986
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,291,219 - 196,318,240 (-)NCBI
GRCh373196,018,090 - 196,045,165 (-)ENTREZGENE
Build 363197,502,495 - 197,529,542 (-)NCBI Archive
Celera3194,599,369 - 194,625,623 (-)RGD
HuRef3193,315,227 - 193,342,065 (-)ENTREZGENE
CHM1_13195,988,915 - 196,015,992 (-)NCBI
T2T-CHM13v2.03199,010,707 - 199,037,779 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001338557 (Get FASTA)   NCBI Sequence Viewer  
  NP_689986 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH15348 (Get FASTA)   NCBI Sequence Viewer  
  AAH21177 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000324323
  ENSP00000324323.5
GenBank Protein Q8WW35 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_689986   ⟸   NM_152773
- Peptide Label: isoform 2
- UniProtKB: A6NCN5 (UniProtKB/Swiss-Prot),   Q8WW35 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001338557   ⟸   NM_001351628
- Peptide Label: isoform 1
- Sequence:
Ensembl Acc Id: ENSP00000415835   ⟸   ENST00000426563
Ensembl Acc Id: ENSP00000324323   ⟸   ENST00000325318
Ensembl Acc Id: ENSP00000410605   ⟸   ENST00000446494

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8WW35-F1-model_v2 AlphaFold Q8WW35 1-142 view protein structure

Promoters
RGD ID:6866686
Promoter ID:EPDNEW_H6507
Type:initiation region
Name:TCTEX1D2_1
Description:Tctex1 domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6509  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,318,240 - 196,318,300EPDNEW
RGD ID:6801761
Promoter ID:HG_KWN:47471
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000341171
Position:
Human AssemblyChrPosition (strand)Source
Build 363197,503,469 - 197,503,969 (-)MPROMDB
RGD ID:6800545
Promoter ID:HG_KWN:47474
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000341144,   OTTHUMT00000341145,   OTTHUMT00000341146,   OTTHUMT00000341166,   OTTHUMT00000341167,   OTTHUMT00000341168,   OTTHUMT00000341169
Position:
Human AssemblyChrPosition (strand)Source
Build 363197,528,996 - 197,529,712 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28482 AgrOrtholog
COSMIC DYNLT2B COSMIC
Ensembl Genes ENSG00000213123 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000325318 ENTREZGENE
  ENST00000325318.10 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.1140.40 UniProtKB/Swiss-Prot
GTEx ENSG00000213123 GTEx
HGNC ID HGNC:28482 ENTREZGENE
Human Proteome Map DYNLT2B Human Proteome Map
InterPro Tctex-1-like UniProtKB/Swiss-Prot
  Tctex-1-like_sf UniProtKB/Swiss-Prot
KEGG Report hsa:255758 UniProtKB/Swiss-Prot
NCBI Gene 255758 ENTREZGENE
OMIM 617353 OMIM
PANTHER DYNEIN LIGHT CHAIN TCTEX-TYPE PROTEIN 2B UniProtKB/Swiss-Prot
  PTHR21255 UniProtKB/Swiss-Prot
Pfam Tctex-1 UniProtKB/Swiss-Prot
PharmGKB PA166352479 PharmGKB
UniProt A6NCN5 ENTREZGENE
  E7ER86_HUMAN UniProtKB/TrEMBL
  F8WD40_HUMAN UniProtKB/TrEMBL
  Q8WW35 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6NCN5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-08-31 DYNLT2B  dynein light chain Tctex-type 2B  TCTEX1D2  Tctex1 domain containing 2  Symbol and/or name change 19259463 PROVISIONAL