TUBB4A (tubulin beta 4A class IVa) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: TUBB4A (tubulin beta 4A class IVa) Homo sapiens
Analyze
Symbol: TUBB4A
Name: tubulin beta 4A class IVa
RGD ID: 1348861
HGNC Page HGNC:20774
Description: Enables calcium ion binding activity. Involved in negative regulation of microtubule polymerization. Located in cytoskeleton and intercellular bridge. Implicated in hypomyelinating leukodystrophy 6 and torsion dystonia 4.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: beta-5; class IVa beta-tubulin; dystonia 4, torsion (autosomal dominant); DYT4; HLD6; TUBB4; TUBB5; tubulin 5 beta; tubulin beta-4 chain; tubulin beta-4A chain; tubulin, beta 4; tubulin, beta 4 class IVa; tubulin, beta 4A class IVa; tubulin, beta, 5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: TUBB4AP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38196,494,319 - 6,502,848 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl196,494,319 - 6,502,848 (-)EnsemblGRCh38hg38GRCh38
GRCh37196,494,330 - 6,502,859 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36196,445,330 - 6,453,330 (-)NCBINCBI36Build 36hg18NCBI36
Build 34196,445,329 - 6,453,330NCBI
Celera196,434,150 - 6,442,152 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef196,257,064 - 6,265,066 (-)NCBIHuRef
CHM1_1196,493,927 - 6,501,914 (-)NCBICHM1_1
T2T-CHM13v2.0196,483,817 - 6,492,345 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-methoxy-17beta-estradiol  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
6-propyl-2-thiouracil  (ISO)
acrolein  (ISO)
acrylamide  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
atrazine  (EXP)
beauvericin  (EXP)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (ISO)
buta-1,3-diene  (ISO)
Butylbenzyl phthalate  (ISO)
carbon nanotube  (ISO)
diallyl disulfide  (EXP)
diazinon  (EXP)
dibutyl phthalate  (ISO)
diethyl phthalate  (ISO)
diethylstilbestrol  (EXP)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
disodium selenite  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
enniatin  (EXP)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
ethylparaben  (EXP)
folic acid  (ISO)
FR900359  (EXP)
glyphosate  (ISO)
ivermectin  (EXP)
lipopolysaccharide  (EXP,ISO)
morphine  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
naphthalene  (ISO)
nicotine  (ISO)
Nor-9-carboxy-delta9-THC  (EXP)
ozone  (ISO)
paracetamol  (ISO)
pirinixic acid  (ISO)
poly(propylene imine) macromolecule  (EXP)
resveratrol  (EXP)
rotenone  (EXP,ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (ISO)
sodium fluoride  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
thapsigargin  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)
zinc sulfate  (EXP)
zoledronic acid  (EXP)

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
Abnormal basal ganglia MRI signal intensity  (IAGP)
Abnormality of the nervous system  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Axial hypotonia  (IAGP)
Blepharospasm  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral hypomyelination  (IAGP)
Cerebral palsy  (IAGP)
Childhood onset  (IAGP)
Choreoathetosis  (IAGP)
Delayed speech and language development  (IAGP)
Dementia  (IAGP)
Developmental regression  (IAGP)
Dysarthria  (IAGP)
Dysdiadochokinesis  (IAGP)
Dysphagia  (IAGP)
Dysphonia  (IAGP)
Dystonia  (IAGP)
Eunuchoid habitus  (IAGP)
Gait ataxia  (IAGP)
Gait disturbance  (IAGP)
Generalized dystonia  (IAGP)
Global developmental delay  (IAGP)
Hemidystonia  (IAGP)
Hypometric saccades  (IAGP)
Hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Involuntary movements  (IAGP)
Juvenile onset  (IAGP)
Kyphoscoliosis  (IAGP)
Laryngeal dystonia  (IAGP)
Leukodystrophy  (IAGP)
Limb dystonia  (IAGP)
Microcephaly  (IAGP)
Motor delay  (IAGP)
Movement abnormality of the tongue  (IAGP)
Narrow face  (IAGP)
Nystagmus  (IAGP)
Oculomotor apraxia  (IAGP)
Open mouth  (IAGP)
Optic atrophy  (IAGP)
Poor speech  (IAGP)
Progressive  (IAGP)
Respiratory distress  (IAGP)
Rigidity  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Slender build  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Sporadic  (IAGP)
Sunken cheeks  (IAGP)
Tetraplegia/tetraparesis  (IAGP)
Torsion dystonia  (IAGP)
Torticollis  (IAGP)
Tremor  (IAGP)
Upper limb postural tremor  (IAGP)
Visual impairment  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. A mutation in the Tubb4a gene leads to microtubule accumulation with hypomyelination and demyelination. Duncan ID, etal., Ann Neurol. 2017 May;81(5):690-702. doi: 10.1002/ana.24930. Epub 2017 May 9.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:3782288   PMID:6462917   PMID:6865944   PMID:7790358   PMID:8432555   PMID:8619814   PMID:8653701   PMID:10211825   PMID:10908577   PMID:11076968   PMID:11120798   PMID:12221128  
PMID:12475942   PMID:12477932   PMID:12486001   PMID:12840015   PMID:12852856   PMID:14702039   PMID:15121898   PMID:15188402   PMID:15324660   PMID:15331610   PMID:15489334   PMID:15691386  
PMID:15698476   PMID:16303743   PMID:16344560   PMID:16462731   PMID:16526095   PMID:16565220   PMID:16944923   PMID:17360745   PMID:17620599   PMID:17627938   PMID:18022941   PMID:18029348  
PMID:18553364   PMID:18613978   PMID:19167051   PMID:19299461   PMID:19773279   PMID:20171186   PMID:20195357   PMID:20301682   PMID:20473970   PMID:21145461   PMID:21151833   PMID:21525035  
PMID:21630459   PMID:21839816   PMID:21873635   PMID:21956287   PMID:22174317   PMID:22266860   PMID:22268729   PMID:22586326   PMID:22863883   PMID:23142642   PMID:23190606   PMID:23246001  
PMID:23349634   PMID:23424103   PMID:23443559   PMID:23463506   PMID:23503679   PMID:23533145   PMID:23582646   PMID:23595291   PMID:23703321   PMID:23826228   PMID:23912453   PMID:23956138  
PMID:24275654   PMID:24337577   PMID:24501781   PMID:24598712   PMID:24706558   PMID:24785942   PMID:24850488   PMID:25036637   PMID:25085639   PMID:25545912   PMID:25640309   PMID:25772097  
PMID:25798074   PMID:25852190   PMID:25864199   PMID:25944111   PMID:25963833   PMID:26186194   PMID:26318963   PMID:26344197   PMID:26375501   PMID:26460568   PMID:26485645   PMID:26496610  
PMID:26549023   PMID:26638075   PMID:26643067   PMID:26673895   PMID:26687479   PMID:26972000   PMID:27025967   PMID:27129302   PMID:27188707   PMID:27342126   PMID:27503909   PMID:27545878  
PMID:27591049   PMID:27609421   PMID:27809427   PMID:28302793   PMID:28330616   PMID:28378594   PMID:28514442   PMID:28648944   PMID:28655586   PMID:28718761   PMID:28973395   PMID:29117863  
PMID:29127012   PMID:29229926   PMID:29298171   PMID:29331416   PMID:29410696   PMID:29491746   PMID:29507755   PMID:29549242   PMID:29563501   PMID:29845934   PMID:29955894   PMID:30079973  
PMID:30097533   PMID:30110629   PMID:30166453   PMID:30258100   PMID:30349055   PMID:30455355   PMID:30575818   PMID:30619335   PMID:30619736   PMID:30809309   PMID:30833792   PMID:30865227  
PMID:31046837   PMID:31091453   PMID:31353912   PMID:31405213   PMID:31491891   PMID:31501420   PMID:31586073   PMID:31594818   PMID:31620119   PMID:31980649   PMID:32129710   PMID:32140098  
PMID:32203420   PMID:32552912   PMID:32573057   PMID:32687490   PMID:32720309   PMID:32786267   PMID:32807901   PMID:32943487   PMID:32994395   PMID:33022573   PMID:33306668   PMID:33567341  
PMID:33658012   PMID:33863777   PMID:33957083   PMID:33961781   PMID:34171383   PMID:34428256   PMID:34514881   PMID:34581821   PMID:34650049   PMID:34687317   PMID:34709727   PMID:34997144  
PMID:35012549   PMID:35032548   PMID:35256949   PMID:35271311   PMID:35275727   PMID:35384245   PMID:35446349   PMID:35509820   PMID:35545034   PMID:35589707   PMID:35676246   PMID:35676659  
PMID:35871212   PMID:35914814   PMID:35944360   PMID:36030824   PMID:36055981   PMID:36114006   PMID:36199071   PMID:36215168   PMID:36373674   PMID:36398858   PMID:36574265   PMID:36811957  
PMID:36912080   PMID:36964488   PMID:36972930   PMID:37529938   PMID:38172120  


Genomics

Comparative Map Data
TUBB4A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38196,494,319 - 6,502,848 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl196,494,319 - 6,502,848 (-)EnsemblGRCh38hg38GRCh38
GRCh37196,494,330 - 6,502,859 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36196,445,330 - 6,453,330 (-)NCBINCBI36Build 36hg18NCBI36
Build 34196,445,329 - 6,453,330NCBI
Celera196,434,150 - 6,442,152 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef196,257,064 - 6,265,066 (-)NCBIHuRef
CHM1_1196,493,927 - 6,501,914 (-)NCBICHM1_1
T2T-CHM13v2.0196,483,817 - 6,492,345 (-)NCBIT2T-CHM13v2.0
Tubb4a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391757,387,061 - 57,394,600 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1757,387,066 - 57,394,782 (-)EnsemblGRCm39 Ensembl
GRCm381757,080,061 - 57,087,600 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1757,080,066 - 57,087,782 (-)EnsemblGRCm38mm10GRCm38
MGSCv371757,219,489 - 57,227,205 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361756,765,319 - 56,772,683 (-)NCBIMGSCv36mm8
Celera1761,427,986 - 61,435,703 (-)NCBICelera
Cytogenetic Map17DNCBI
cM Map1729.66NCBI
Tubb4a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr892,004,836 - 2,012,281 (-)NCBIGRCr8
mRatBN7.291,917,841 - 1,925,286 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl91,917,845 - 1,925,291 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx92,351,879 - 2,359,326 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.097,701,246 - 7,708,694 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.096,657,095 - 6,664,543 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.099,961,020 - 9,968,420 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl99,961,021 - 9,968,486 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.098,960,772 - 8,968,172 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera96,592,438 - 6,599,882 (+)NCBICelera
Cytogenetic Map9q11NCBI
Tubb4a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554953,133,429 - 3,139,552 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554953,134,181 - 3,138,725 (+)NCBIChiLan1.0ChiLan1.0
TUBB4A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22010,901,916 - 10,910,445 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11910,127,833 - 10,136,362 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0195,521,425 - 5,529,958 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1196,443,913 - 6,451,785 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl196,441,323 - 6,451,785 (-)Ensemblpanpan1.1panPan2
TUBB4A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12053,697,643 - 53,702,671 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2053,697,639 - 53,702,349 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2053,444,670 - 53,449,928 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02054,351,606 - 54,356,870 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2054,351,274 - 54,356,867 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12053,418,321 - 53,423,724 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02053,866,868 - 53,871,927 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02054,095,881 - 54,101,133 (+)NCBIUU_Cfam_GSD_1.0
Tubb4a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118214,008,052 - 214,013,612 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365883,821,110 - 3,826,940 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365883,821,171 - 3,826,827 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TUBB4A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl272,599,140 - 72,605,361 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1272,599,244 - 72,605,362 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2273,063,925 - 73,085,100 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TUBB4A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.166,104,265 - 6,111,966 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl66,094,130 - 6,111,762 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660811,895,229 - 1,903,320 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tubb4a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248283,584,848 - 3,594,294 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248283,588,001 - 3,594,294 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TUBB4A
239 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006087.4(TUBB4A):c.1062C>G (p.Cys354Trp) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000552933]|not provided [RCV001837950] Chr19:6495437 [GRCh38]
Chr19:6495448 [GRCh37]
Chr19:19p13.3
likely pathogenic|uncertain significance
NM_006087.4(TUBB4A):c.292G>A (p.Gly98Ser) single nucleotide variant not provided [RCV000521442] Chr19:6496207 [GRCh38]
Chr19:6496218 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.811G>A (p.Ala271Thr) single nucleotide variant Torsion dystonia 4 [RCV000077783] Chr19:6495688 [GRCh38]
Chr19:6495699 [GRCh37]
Chr19:19p13.3
pathogenic
NM_006087.4(TUBB4A):c.4C>G (p.Arg2Gly) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000258667]|Torsion dystonia 4 [RCV000043680] Chr19:6502209 [GRCh38]
Chr19:6502220 [GRCh37]
Chr19:19p13.3
pathogenic|not provided
NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn) single nucleotide variant Abnormality of the nervous system [RCV001814029]|Hypomyelinating leukodystrophy 6 [RCV000043681]|Torsion dystonia 4 [RCV001249621]|not provided [RCV000255689] Chr19:6495754 [GRCh38]
Chr19:6495765 [GRCh37]
Chr19:19p13.3
pathogenic|likely pathogenic
NM_006087.4(TUBB4A):c.568C>T (p.His190Tyr) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000173012] Chr19:6495931 [GRCh38]
Chr19:6495942 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:4039158-9176125)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|See cases [RCV000052881] Chr19:4039158..9176125 [GRCh38]
Chr19:4039156..9286801 [GRCh37]
Chr19:3990156..9147801 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3 copy number gain See cases [RCV000052882] Chr19:4934885..6501642 [GRCh38]
Chr19:4934897..6501653 [GRCh37]
Chr19:4885897..6452653 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys) single nucleotide variant Cerebral palsy [RCV001795219]|Global developmental delay [RCV002463648]|Hypomyelinating leukodystrophy 6 [RCV000122736]|Torsion dystonia 4 [RCV000763442]|Torsion dystonia 4 [RCV001542616]|not provided [RCV001563545] Chr19:6495271 [GRCh38]
Chr19:6495282 [GRCh37]
Chr19:19p13.3
pathogenic|likely pathogenic
NM_006087.4(TUBB4A):c.467G>T (p.Arg156Leu) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000122737]|Inborn genetic diseases [RCV000623232] Chr19:6496032 [GRCh38]
Chr19:6496043 [GRCh37]
Chr19:19p13.3
pathogenic|likely pathogenic
NM_006087.4(TUBB4A):c.5G>A (p.Arg2Gln) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000128409]|not provided [RCV000350313] Chr19:6502208 [GRCh38]
Chr19:6502219 [GRCh37]
Chr19:19p13.3
pathogenic
NM_006087.4(TUBB4A):c.533C>G (p.Thr178Arg) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000128410] Chr19:6495966 [GRCh38]
Chr19:6495977 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3 copy number gain See cases [RCV000139338] Chr19:5905175..6916287 [GRCh38]
Chr19:5905186..6916298 [GRCh37]
Chr19:5856186..6867298 [NCBI36]
Chr19:19p13.3-13.2
uncertain significance
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3
pathogenic
NM_006087.4(TUBB4A):c.785G>A (p.Arg262His) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000258674]|Inborn genetic diseases [RCV000623201]|not provided [RCV000255029] Chr19:6495714 [GRCh38]
Chr19:6495725 [GRCh37]
Chr19:19p13.3
pathogenic
NM_006087.4(TUBB4A):c.1164G>C (p.Met388Ile) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000191139] Chr19:6495335 [GRCh38]
Chr19:6495346 [GRCh37]
Chr19:19p13.3
pathogenic|likely pathogenic
NM_006087.4(TUBB4A):c.915G>A (p.Pro305=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000383118]|Torsion dystonia 4 [RCV000288736]|not provided [RCV001709516]|not specified [RCV000193302] Chr19:6495584 [GRCh38]
Chr19:6495595 [GRCh37]
Chr19:19p13.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006087.4(TUBB4A):c.667G>A (p.Gly223Arg) single nucleotide variant not specified [RCV000195271] Chr19:6495832 [GRCh38]
Chr19:6495843 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile) single nucleotide variant Cerebral palsy [RCV001004001]|Hypomyelinating leukodystrophy 6 [RCV000199587]|Inborn genetic diseases [RCV002515471]|Microcephaly [RCV001527369]|not provided [RCV000290772] Chr19:6495736 [GRCh38]
Chr19:6495747 [GRCh37]
Chr19:19p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_006087.4(TUBB4A):c.1164G>A (p.Met388Ile) single nucleotide variant Global developmental delay [RCV001004000]|Hypomyelinating leukodystrophy 6 [RCV000258534]|not provided [RCV001092107] Chr19:6495335 [GRCh38]
Chr19:6495346 [GRCh37]
Chr19:19p13.3
pathogenic|not provided
NM_006087.4(TUBB4A):c.845G>C (p.Arg282Pro) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000258563] Chr19:6495654 [GRCh38]
Chr19:6495665 [GRCh37]
Chr19:19p13.3
pathogenic|not provided
NM_006087.4(TUBB4A):c.4C>T (p.Arg2Trp) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000258578]|not provided [RCV001782762] Chr19:6502209 [GRCh38]
Chr19:6502220 [GRCh37]
Chr19:19p13.3
pathogenic|not provided
NM_006087.4(TUBB4A):c.533C>T (p.Thr178Met) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000258699]|Torsion dystonia 4 [RCV001335376]|not provided [RCV000782019] Chr19:6495966 [GRCh38]
Chr19:6495977 [GRCh37]
Chr19:19p13.3
pathogenic|not provided
NM_006087.3:c.900C>A single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000258753] Chr19:19p13.3 pathogenic
NM_006087.4(TUBB4A):c.1099T>C (p.Phe367Leu) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000258517] Chr19:6495400 [GRCh38]
Chr19:6495411 [GRCh37]
Chr19:19p13.3
pathogenic|likely pathogenic|not provided
NM_006087.4(TUBB4A):c.544C>A (p.Pro182Thr) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000258525] Chr19:6495955 [GRCh38]
Chr19:6495966 [GRCh37]
Chr19:19p13.3
pathogenic|not provided
NM_006087.4(TUBB4A):c.731G>T (p.Gly244Val) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000258532]|not provided [RCV003325306] Chr19:6495768 [GRCh38]
Chr19:6495779 [GRCh37]
Chr19:19p13.3
pathogenic|not provided
NM_006087.4(TUBB4A):c.968T>G (p.Met323Arg) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000258582] Chr19:6495531 [GRCh38]
Chr19:6495542 [GRCh37]
Chr19:19p13.3
pathogenic|not provided
NM_006087.4(TUBB4A):c.1162A>G (p.Met388Val) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000258588]|not provided [RCV000433083] Chr19:6495337 [GRCh38]
Chr19:6495348 [GRCh37]
Chr19:19p13.3
pathogenic|likely pathogenic|not provided
NM_006087.4(TUBB4A):c.1091C>A (p.Ala364Asp) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000258591] Chr19:6495408 [GRCh38]
Chr19:6495419 [GRCh37]
Chr19:19p13.3
pathogenic|not provided
NM_006087.4(TUBB4A):c.1172G>A (p.Arg391His) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000258636]|Torsion dystonia 4 [RCV001249222]|not provided [RCV001092106] Chr19:6495327 [GRCh38]
Chr19:6495338 [GRCh37]
Chr19:19p13.3
pathogenic|uncertain significance|not provided
NM_006087.4(TUBB4A):c.731G>A (p.Gly244Asp) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000258642] Chr19:6495768 [GRCh38]
Chr19:6495779 [GRCh37]
Chr19:19p13.3
pathogenic|not provided
NM_006087.4(TUBB4A):c.1054G>A (p.Ala352Thr) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000258649] Chr19:6495445 [GRCh38]
Chr19:6495456 [GRCh37]
Chr19:19p13.3
pathogenic|uncertain significance
NM_006087.4(TUBB4A):c.900G>T (p.Met300Ile) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000258675] Chr19:6495599 [GRCh38]
Chr19:6495610 [GRCh37]
Chr19:19p13.3
pathogenic|not provided
NM_006087.4(TUBB4A):c.874C>A (p.Gln292Lys) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000258678] Chr19:6495625 [GRCh38]
Chr19:6495636 [GRCh37]
Chr19:19p13.3
pathogenic|not provided
NM_006087.4(TUBB4A):c.1099T>A (p.Phe367Ile) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000258702] Chr19:6495400 [GRCh38]
Chr19:6495411 [GRCh37]
Chr19:19p13.3
pathogenic|not provided
NM_006087.4(TUBB4A):c.1163T>C (p.Met388Thr) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000258709]|not provided [RCV003237814] Chr19:6495336 [GRCh38]
Chr19:6495347 [GRCh37]
Chr19:19p13.3
pathogenic|likely pathogenic|uncertain significance|not provided
NM_006087.4(TUBB4A):c.1181T>G (p.Phe394Cys) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000258719] Chr19:6495318 [GRCh38]
Chr19:6495329 [GRCh37]
Chr19:19p13.3
pathogenic|not provided
NM_006087.4(TUBB4A):c.716G>T (p.Cys239Phe) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000258739] Chr19:6495783 [GRCh38]
Chr19:6495794 [GRCh37]
Chr19:19p13.3
pathogenic|not provided
NM_006087.4(TUBB4A):c.1061G>A (p.Cys354Tyr) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000258758] Chr19:6495438 [GRCh38]
Chr19:6495449 [GRCh37]
Chr19:19p13.3
pathogenic|not provided
NM_006087.4(TUBB4A):c.941C>T (p.Ala314Val) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000258759]|not provided [RCV000440199] Chr19:6495558 [GRCh38]
Chr19:6495569 [GRCh37]
Chr19:19p13.3
pathogenic|likely pathogenic|uncertain significance
NM_006087.4(TUBB4A):c.730G>A (p.Gly244Ser) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000258787]|not provided [RCV003322766] Chr19:6495769 [GRCh38]
Chr19:6495780 [GRCh37]
Chr19:19p13.3
pathogenic|likely pathogenic|not provided
NM_006087.4(TUBB4A):c.921C>T (p.His307=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000231688]|Torsion dystonia 4 [RCV000328435]|not specified [RCV000437149] Chr19:6495578 [GRCh38]
Chr19:6495589 [GRCh37]
Chr19:19p13.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_006087.4(TUBB4A):c.1030T>C (p.Trp344Arg) single nucleotide variant Inborn genetic diseases [RCV000622318] Chr19:6495469 [GRCh38]
Chr19:6495480 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.*804C>G single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000266042]|Torsion dystonia 4 [RCV000358613] Chr19:6494360 [GRCh38]
Chr19:6494371 [GRCh37]
Chr19:19p13.3
benign
NM_006087.4(TUBB4A):c.189G>A (p.Ala63=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000275181]|Torsion dystonia 4 [RCV000330295]|not provided [RCV001712117] Chr19:6501375 [GRCh38]
Chr19:6501386 [GRCh37]
Chr19:19p13.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_006087.4(TUBB4A):c.1287G>A (p.Thr429=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000353442]|Torsion dystonia 4 [RCV000277425]|not specified [RCV000436242] Chr19:6495212 [GRCh38]
Chr19:6495223 [GRCh37]
Chr19:19p13.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_006087.4(TUBB4A):c.*53G>A single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000261904]|Torsion dystonia 4 [RCV000317082] Chr19:6495111 [GRCh38]
Chr19:6495122 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.*700T>A single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000327122]|Torsion dystonia 4 [RCV000269699] Chr19:6494464 [GRCh38]
Chr19:6494475 [GRCh37]
Chr19:19p13.3
benign
NM_006087.4(TUBB4A):c.*260G>C single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000345532]|Torsion dystonia 4 [RCV000309290]|not provided [RCV001683326] Chr19:6494904 [GRCh38]
Chr19:6494915 [GRCh37]
Chr19:19p13.3
benign
NM_006087.4(TUBB4A):c.-62C>T single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000271951]|Torsion dystonia 4 [RCV000366621] Chr19:6502274 [GRCh38]
Chr19:6502285 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_006087.4(TUBB4A):c.*100G>A single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000391165]|Torsion dystonia 4 [RCV000360512] Chr19:6495064 [GRCh38]
Chr19:6495075 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_006087.4(TUBB4A):c.*673A>G single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000273358]|Torsion dystonia 4 [RCV000384213] Chr19:6494491 [GRCh38]
Chr19:6494502 [GRCh37]
Chr19:19p13.3
benign
NM_006087.4(TUBB4A):c.210C>T (p.Pro70=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000315058]|Torsion dystonia 4 [RCV000369687] Chr19:6501354 [GRCh38]
Chr19:6501365 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_006087.4(TUBB4A):c.*493C>G single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000330873]|Torsion dystonia 4 [RCV000387713] Chr19:6494671 [GRCh38]
Chr19:6494682 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_006087.4(TUBB4A):c.774T>C (p.Val258=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000285444]|Torsion dystonia 4 [RCV000340366]|not provided [RCV001636927]|not specified [RCV001723918] Chr19:6495725 [GRCh38]
Chr19:6495736 [GRCh37]
Chr19:19p13.3
benign
NM_006087.4(TUBB4A):c.1095G>A (p.Ala365=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000332362]|Torsion dystonia 4 [RCV000386937]|not provided [RCV000864997] Chr19:6495404 [GRCh38]
Chr19:6495415 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_006087.4(TUBB4A):c.*429C>T single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000294201]|Torsion dystonia 4 [RCV000372809] Chr19:6494735 [GRCh38]
Chr19:6494746 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_006087.4(TUBB4A):c.906G>A (p.Ala302=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000343742]|Torsion dystonia 4 [RCV000402401]|Torsion dystonia 4 [RCV002504112]|not provided [RCV001532369]|not specified [RCV000429180] Chr19:6495593 [GRCh38]
Chr19:6495604 [GRCh37]
Chr19:19p13.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_006087.4(TUBB4A):c.624C>T (p.Tyr208=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000401832]|Torsion dystonia 4 [RCV000300026]|not provided [RCV003418041] Chr19:6495875 [GRCh38]
Chr19:6495886 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_006087.4(TUBB4A):c.*96C>G single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000356852]|Torsion dystonia 4 [RCV000301983]|not provided [RCV001718693] Chr19:6495068 [GRCh38]
Chr19:6495079 [GRCh37]
Chr19:19p13.3
benign
NM_006087.4(TUBB4A):c.*400G>A single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000349098]|Torsion dystonia 4 [RCV000400034]|not provided [RCV001613070] Chr19:6494764 [GRCh38]
Chr19:6494775 [GRCh37]
Chr19:19p13.3
benign
NM_006087.4(TUBB4A):c.*725G>A single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000305037]|Torsion dystonia 4 [RCV000362026] Chr19:6494439 [GRCh38]
Chr19:6494450 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_006087.4(TUBB4A):c.*111G>C single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000400324]|Torsion dystonia 4 [RCV000305659]|not provided [RCV001613071] Chr19:6495053 [GRCh38]
Chr19:6495064 [GRCh37]
Chr19:19p13.3
benign
NM_006087.4(TUBB4A):c.342C>T (p.Asp114=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000354776]|Torsion dystonia 4 [RCV000393466]|not specified [RCV000436450] Chr19:6496157 [GRCh38]
Chr19:6496168 [GRCh37]
Chr19:19p13.3
benign
NM_006087.4(TUBB4A):c.523G>A (p.Val175Met) single nucleotide variant not provided [RCV003314961]|not specified [RCV003388221] Chr19:6495976 [GRCh38]
Chr19:6495987 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.538G>A (p.Val180Met) single nucleotide variant Torsion dystonia 4 [RCV002248713]|not provided [RCV000488334] Chr19:6495961 [GRCh38]
Chr19:6495972 [GRCh37]
Chr19:19p13.3
likely pathogenic|uncertain significance
NM_006087.4(TUBB4A):c.585T>C (p.Asn195=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000646036]|not provided [RCV001719010] Chr19:6495914 [GRCh38]
Chr19:6495925 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_006087.4(TUBB4A):c.*440C>T single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000334472]|Torsion dystonia 4 [RCV000295816] Chr19:6494724 [GRCh38]
Chr19:6494735 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001289123.1(TUBB4A):c.*856G>A single nucleotide variant Dystonic disorder [RCV000341206]|Hypomyelinating leukodystrophy 6 [RCV000283638] Chr19:6494308 [GRCh38]
Chr19:6494319 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.293G>A (p.Gly98Asp) single nucleotide variant Inborn genetic diseases [RCV001266342]|not provided [RCV000591466] Chr19:6496206 [GRCh38]
Chr19:6496217 [GRCh37]
Chr19:19p13.3
likely pathogenic|uncertain significance
NM_006087.4(TUBB4A):c.535G>C (p.Val179Leu) single nucleotide variant not provided [RCV000413308] Chr19:6495964 [GRCh38]
Chr19:6495975 [GRCh37]
Chr19:19p13.3
pathogenic
NM_006087.4(TUBB4A):c.*3T>C single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001135682]|Torsion dystonia 4 [RCV001135681]|not specified [RCV000417707] Chr19:6495161 [GRCh38]
Chr19:6495172 [GRCh37]
Chr19:19p13.3
benign
NM_006087.4(TUBB4A):c.1172G>T (p.Arg391Leu) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000677404]|not provided [RCV000482828] Chr19:6495327 [GRCh38]
Chr19:6495338 [GRCh37]
Chr19:19p13.3
pathogenic|uncertain significance
NM_006087.4(TUBB4A):c.286G>A (p.Gly96Arg) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001851359]|Torsion dystonia 4 [RCV003458202]|not provided [RCV000493968] Chr19:6496213 [GRCh38]
Chr19:6496224 [GRCh37]
Chr19:19p13.3
pathogenic|likely pathogenic|uncertain significance|not provided
NM_006087.4(TUBB4A):c.895A>T (p.Met299Leu) single nucleotide variant not provided [RCV000494554] Chr19:6495604 [GRCh38]
Chr19:6495615 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.1316C>A (p.Ala439Glu) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000646035] Chr19:6495183 [GRCh38]
Chr19:6495194 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_006087.4(TUBB4A):c.-31C>A single nucleotide variant not specified [RCV000607435] Chr19:6502243 [GRCh38]
Chr19:6502254 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.558G>A (p.Thr186=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002529381]|not specified [RCV000609945] Chr19:6495941 [GRCh38]
Chr19:6495952 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.114G>A (p.Gly38=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002062901]|not specified [RCV000610240] Chr19:6501567 [GRCh38]
Chr19:6501578 [GRCh37]
Chr19:19p13.3
likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
NM_006087.4(TUBB4A):c.769A>T (p.Met257Leu) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000646034] Chr19:6495730 [GRCh38]
Chr19:6495741 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3 copy number gain not provided [RCV000684096] Chr19:3120160..9732820 [GRCh37]
Chr19:19p13.3-13.2
pathogenic
NM_006087.4(TUBB4A):c.673C>T (p.Leu225Phe) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000701647] Chr19:6495826 [GRCh38]
Chr19:6495837 [GRCh37]
Chr19:19p13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006087.4(TUBB4A):c.686T>C (p.Val229Ala) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000704674] Chr19:6495813 [GRCh38]
Chr19:6495824 [GRCh37]
Chr19:19p13.3
likely pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_006087.4(TUBB4A):c.238C>T (p.Pro80Ser) single nucleotide variant Torsion dystonia 4 [RCV000853496] Chr19:6501326 [GRCh38]
Chr19:6501337 [GRCh37]
Chr19:19p13.3
benign
NM_006087.4(TUBB4A):c.1311G>A (p.Glu437=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001087839]|not provided [RCV000761980] Chr19:6495188 [GRCh38]
Chr19:6495199 [GRCh37]
Chr19:19p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006087.4(TUBB4A):c.292G>C (p.Gly98Arg) single nucleotide variant not provided [RCV000761981] Chr19:6496207 [GRCh38]
Chr19:6496218 [GRCh37]
Chr19:19p13.3
likely pathogenic|uncertain significance
NM_006087.4(TUBB4A):c.239C>T (p.Pro80Leu) single nucleotide variant not provided [RCV000761982] Chr19:6501325 [GRCh38]
Chr19:6501336 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_006087.4(TUBB4A):c.*633C>A single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001135554]|Torsion dystonia 4 [RCV001135555] Chr19:6494531 [GRCh38]
Chr19:6494542 [GRCh37]
Chr19:19p13.3
benign
NM_006087.4(TUBB4A):c.1065C>A (p.Asp355Glu) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000995672] Chr19:6495434 [GRCh38]
Chr19:6495445 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_006087.4(TUBB4A):c.1054G>T (p.Ala352Ser) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000995673] Chr19:6495445 [GRCh38]
Chr19:6495456 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_006087.4(TUBB4A):c.429G>C (p.Thr143=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002067453]|not provided [RCV000827424] Chr19:6496070 [GRCh38]
Chr19:6496081 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.1299C>T (p.Gly433=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000861893]|Torsion dystonia 4 [RCV001135683]|not provided [RCV001311150] Chr19:6495200 [GRCh38]
Chr19:6495211 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_006087.4(TUBB4A):c.450G>A (p.Leu150=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000979538] Chr19:6496049 [GRCh38]
Chr19:6496060 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.510G>A (p.Val170=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002064837]|not provided [RCV000876057] Chr19:6495989 [GRCh38]
Chr19:6496000 [GRCh37]
Chr19:19p13.3
benign
NM_006087.4(TUBB4A):c.741C>T (p.Asn247=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000869465] Chr19:6495758 [GRCh38]
Chr19:6495769 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.703G>A (p.Gly235Arg) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000797582] Chr19:6495796 [GRCh38]
Chr19:6495807 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.516G>A (p.Ser172=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002064620] Chr19:6495983 [GRCh38]
Chr19:6495994 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.276T>C (p.Phe92=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000819685] Chr19:6501288 [GRCh38]
Chr19:6501299 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_006087.4(TUBB4A):c.1316C>T (p.Ala439Val) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000812940] Chr19:6495183 [GRCh38]
Chr19:6495194 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.1329G>A (p.Val443=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002550701]|not provided [RCV000996720] Chr19:6495170 [GRCh38]
Chr19:6495181 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
GRCh37/hg19 19p13.3(chr19:5949772-6699729)x3 copy number gain not provided [RCV001007028] Chr19:5949772..6699729 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.*36C>G single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001135679]|Torsion dystonia 4 [RCV001135680] Chr19:6495128 [GRCh38]
Chr19:6495139 [GRCh37]
Chr19:19p13.3
benign
NM_006087.4(TUBB4A):c.*86G>A single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001134178]|Torsion dystonia 4 [RCV001134179] Chr19:6495078 [GRCh38]
Chr19:6495089 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.*627A>C single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001135557]|Torsion dystonia 4 [RCV001135556] Chr19:6494537 [GRCh38]
Chr19:6494548 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.730G>C (p.Gly244Arg) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000990137] Chr19:6495769 [GRCh38]
Chr19:6495780 [GRCh37]
Chr19:19p13.3
pathogenic
NM_006087.4(TUBB4A):c.57+30G>T single nucleotide variant not provided [RCV000829405] Chr19:6502126 [GRCh38]
Chr19:6502137 [GRCh37]
Chr19:19p13.3
benign
NM_006087.4(TUBB4A):c.57+169G>A single nucleotide variant not provided [RCV000829406] Chr19:6501987 [GRCh38]
Chr19:6501998 [GRCh37]
Chr19:19p13.3
benign
NM_006087.4(TUBB4A):c.621C>T (p.Leu207=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001491477] Chr19:6495878 [GRCh38]
Chr19:6495889 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.*800G>A single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001131103]|Torsion dystonia 4 [RCV001131102] Chr19:6494364 [GRCh38]
Chr19:6494375 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.1155C>A (p.Phe385Leu) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001198684] Chr19:6495344 [GRCh38]
Chr19:6495355 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.855G>A (p.Thr285=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001208073] Chr19:6495644 [GRCh38]
Chr19:6495655 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_006087.4(TUBB4A):c.1181T>C (p.Phe394Ser) single nucleotide variant Torsion dystonia 4 [RCV000850614] Chr19:6495318 [GRCh38]
Chr19:6495329 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_006087.4(TUBB4A):c.557C>T (p.Thr186Met) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001196325] Chr19:6495942 [GRCh38]
Chr19:6495953 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.278-6C>T single nucleotide variant not provided [RCV001092936] Chr19:6496227 [GRCh38]
Chr19:6496238 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.278-119A>G single nucleotide variant not provided [RCV001551348] Chr19:6496340 [GRCh38]
Chr19:6496351 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.277+114C>G single nucleotide variant not provided [RCV001587617] Chr19:6501173 [GRCh38]
Chr19:6501184 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.1092C>T (p.Ala364=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002072168]|not provided [RCV001565859] Chr19:6495407 [GRCh38]
Chr19:6495418 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.277+28C>T single nucleotide variant not provided [RCV001559558] Chr19:6501259 [GRCh38]
Chr19:6501270 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.1305C>T (p.Phe435=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001495706] Chr19:6495194 [GRCh38]
Chr19:6495205 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.120T>C (p.Ser40=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001408714] Chr19:6501561 [GRCh38]
Chr19:6501572 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.1044C>T (p.Asn348=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV000872991]|not provided [RCV001683680] Chr19:6495455 [GRCh38]
Chr19:6495466 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_006087.4(TUBB4A):c.1317G>T (p.Ala439=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002539316] Chr19:6495182 [GRCh38]
Chr19:6495193 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.777C>G (p.Pro259=) single nucleotide variant not provided [RCV000996721] Chr19:6495722 [GRCh38]
Chr19:6495733 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.546C>T (p.Pro182=) single nucleotide variant not provided [RCV000932890] Chr19:6495953 [GRCh38]
Chr19:6495964 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.1049A>C (p.Lys350Thr) single nucleotide variant not provided [RCV001092108] Chr19:6495450 [GRCh38]
Chr19:6495461 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_006087.4(TUBB4A):c.666C>T (p.Tyr222=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001131323]|Torsion dystonia 4 [RCV001131324] Chr19:6495833 [GRCh38]
Chr19:6495844 [GRCh37]
Chr19:19p13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006087.4(TUBB4A):c.*69C>G single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001134180]|Torsion dystonia 4 [RCV001134181] Chr19:6495095 [GRCh38]
Chr19:6495106 [GRCh37]
Chr19:19p13.3
benign
NM_006087.4(TUBB4A):c.435C>T (p.Ser145=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001134316]|Torsion dystonia 4 [RCV001134317] Chr19:6496064 [GRCh38]
Chr19:6496075 [GRCh37]
Chr19:19p13.3
benign
NM_006087.4(TUBB4A):c.271G>A (p.Val91Met) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001051376] Chr19:6501293 [GRCh38]
Chr19:6501304 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.167-12G>C single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001135792]|Torsion dystonia 4 [RCV001135791] Chr19:6501409 [GRCh38]
Chr19:6501420 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.58-174C>T single nucleotide variant not provided [RCV001553195] Chr19:6501797 [GRCh38]
Chr19:6501808 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.900G>A (p.Met300Ile) single nucleotide variant not specified [RCV002470075] Chr19:6495599 [GRCh38]
Chr19:6495610 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.762C>T (p.Ala254=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002073244]|not provided [RCV001688681] Chr19:6495737 [GRCh38]
Chr19:6495748 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_006087.4(TUBB4A):c.167-21C>T single nucleotide variant not provided [RCV001594291] Chr19:6501418 [GRCh38]
Chr19:6501429 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.166+52A>C single nucleotide variant not provided [RCV001584909] Chr19:6501463 [GRCh38]
Chr19:6501474 [GRCh37]
Chr19:19p13.3
likely benign
NM_001289123.2(TUBB4A):c.33+88C>T single nucleotide variant not provided [RCV001669451] Chr19:6502591 [GRCh38]
Chr19:6502602 [GRCh37]
Chr19:19p13.3
benign
NM_006087.4(TUBB4A):c.*579C>T single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001135559]|Torsion dystonia 4 [RCV001135558] Chr19:6494585 [GRCh38]
Chr19:6494596 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.327C>T (p.Gly109=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002069611]|not provided [RCV001092935] Chr19:6496172 [GRCh38]
Chr19:6496183 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_006087.4(TUBB4A):c.*792C>T single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001134055]|Torsion dystonia 4 [RCV001134054] Chr19:6494372 [GRCh38]
Chr19:6494383 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.630C>T (p.Ile210=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001134314]|Torsion dystonia 4 [RCV001134315] Chr19:6495869 [GRCh38]
Chr19:6495880 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.*304C>T single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001130493]|Torsion dystonia 4 [RCV001130492] Chr19:6494860 [GRCh38]
Chr19:6494871 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.1021T>C (p.Phe341Leu) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001195857] Chr19:6495478 [GRCh38]
Chr19:6495489 [GRCh37]
Chr19:19p13.3
likely pathogenic
GRCh37/hg19 19p13.3(chr19:6246138-6823741)x3 copy number gain not provided [RCV001007029] Chr19:6246138..6823741 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.361C>T (p.Arg121Trp) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001039167] Chr19:6496138 [GRCh38]
Chr19:6496149 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_006087.4(TUBB4A):c.1240A>T (p.Asn414Tyr) single nucleotide variant Inborn genetic diseases [RCV001266319] Chr19:6495259 [GRCh38]
Chr19:6495270 [GRCh37]
Chr19:19p13.3
likely pathogenic
GRCh37/hg19 19p13.3(chr19:6096399-6699729)x3 copy number gain not provided [RCV001259930] Chr19:6096399..6699729 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_6495175)_(6496252_?)dup duplication Hypomyelinating leukodystrophy 6 [RCV001324928] Chr19:6495175..6496252 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.1200C>T (p.Gly400=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001317972] Chr19:6495299 [GRCh38]
Chr19:6495310 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.351G>A (p.Leu117=) single nucleotide variant not provided [RCV001311151] Chr19:6496148 [GRCh38]
Chr19:6496159 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.769A>G (p.Met257Val) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001368320] Chr19:6495730 [GRCh38]
Chr19:6495741 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.230G>A (p.Arg77His) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001372896]|not provided [RCV001797177] Chr19:6501334 [GRCh38]
Chr19:6501345 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.278-15_278-6del deletion Hypomyelinating leukodystrophy 6 [RCV001350241]|Inborn genetic diseases [RCV002545626] Chr19:6496227..6496236 [GRCh38]
Chr19:6496238..6496247 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.854C>A (p.Thr285Lys) single nucleotide variant Torsion dystonia 4 [RCV001335377] Chr19:6495645 [GRCh38]
Chr19:6495656 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_006087.4(TUBB4A):c.1178C>T (p.Ala393Val) single nucleotide variant not provided [RCV001812510] Chr19:6495321 [GRCh38]
Chr19:6495332 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_006087.4(TUBB4A):c.861C>T (p.Pro287=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001464663] Chr19:6495638 [GRCh38]
Chr19:6495649 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.1053G>A (p.Thr351=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001489559] Chr19:6495446 [GRCh38]
Chr19:6495457 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.278-204G>A single nucleotide variant not provided [RCV001651991] Chr19:6496425 [GRCh38]
Chr19:6496436 [GRCh37]
Chr19:19p13.3
benign
NM_006087.4(TUBB4A):c.796T>A (p.Phe266Ile) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001663402] Chr19:6495703 [GRCh38]
Chr19:6495714 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_006087.4(TUBB4A):c.942C>T (p.Ala314=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001456351]|not provided [RCV001581141] Chr19:6495557 [GRCh38]
Chr19:6495568 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.464T>C (p.Ile155Thr) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001706949] Chr19:6496035 [GRCh38]
Chr19:6496046 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.1206C>T (p.Gly402=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV003104270] Chr19:6495293 [GRCh38]
Chr19:6495304 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.374_375inv (p.Glu125Ala) inversion not provided [RCV001760912] Chr19:6496124..6496125 [GRCh38]
Chr19:6496135..6496136 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.422G>A (p.Gly141Asp) single nucleotide variant not provided [RCV001763039] Chr19:6496077 [GRCh38]
Chr19:6496088 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.1055_1057del (p.Ala352del) deletion not provided [RCV001768487] Chr19:6495442..6495444 [GRCh38]
Chr19:6495453..6495455 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.834C>A (p.Ser278Arg) single nucleotide variant not provided [RCV001754590] Chr19:6495665 [GRCh38]
Chr19:6495676 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.256C>T (p.Arg86Trp) single nucleotide variant not provided [RCV001816227] Chr19:6501308 [GRCh38]
Chr19:6501319 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.34T>C (p.Cys12Arg) single nucleotide variant TUBB4A-related hypomyelinating leukodystrophy and/or torsion dystonia [RCV001797019] Chr19:6502179 [GRCh38]
Chr19:6502190 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001289123.2(TUBB4A):c.13del (p.Ala5fs) deletion Hypomyelinating leukodystrophy 6 [RCV001809062] Chr19:6502699 [GRCh38]
Chr19:6502710 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.736C>G (p.Leu246Val) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002025603]|Inborn genetic diseases [RCV002642181] Chr19:6495763 [GRCh38]
Chr19:6495774 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.451C>T (p.Leu151Phe) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001863957] Chr19:6496048 [GRCh38]
Chr19:6496059 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.270C>A (p.Phe90Leu) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001948322] Chr19:6501294 [GRCh38]
Chr19:6501305 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.958C>T (p.Arg320Cys) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001871399] Chr19:6495541 [GRCh38]
Chr19:6495552 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.464_465insGAGT (p.Ile155fs) insertion Hypomyelinating leukodystrophy 6 [RCV001995904]|not provided [RCV003136408] Chr19:6496034..6496035 [GRCh38]
Chr19:6496045..6496046 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.1213G>A (p.Glu405Lys) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001930200] Chr19:6495286 [GRCh38]
Chr19:6495297 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.736C>A (p.Leu246Met) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002014654] Chr19:6495763 [GRCh38]
Chr19:6495774 [GRCh37]
Chr19:19p13.3
likely pathogenic|uncertain significance
NM_006087.4(TUBB4A):c.1197G>A (p.Thr399=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001978765] Chr19:6495302 [GRCh38]
Chr19:6495313 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_006087.4(TUBB4A):c.848C>T (p.Ala283Val) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001955078] Chr19:6495651 [GRCh38]
Chr19:6495662 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_006087.4(TUBB4A):c.204G>A (p.Leu68=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV001989326] Chr19:6501360 [GRCh38]
Chr19:6501371 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_006087.4(TUBB4A):c.475_476inv (p.Phe159Asn) inversion Hypomyelinating leukodystrophy 6 [RCV001937524] Chr19:6496023..6496024 [GRCh38]
Chr19:6496034..6496035 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.1200C>G (p.Gly400=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002092278]|not provided [RCV003222383] Chr19:6495299 [GRCh38]
Chr19:6495310 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.1146C>T (p.Ser382=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002107541] Chr19:6495353 [GRCh38]
Chr19:6495364 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.167-16_167-13del deletion Hypomyelinating leukodystrophy 6 [RCV002107247] Chr19:6501410..6501413 [GRCh38]
Chr19:6501421..6501424 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.321G>A (p.Thr107=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002127130] Chr19:6496178 [GRCh38]
Chr19:6496189 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.144C>T (p.Asn48=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002193488] Chr19:6501537 [GRCh38]
Chr19:6501548 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.243C>T (p.Phe81=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002094866] Chr19:6501321 [GRCh38]
Chr19:6501332 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.816C>A (p.Pro272=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002101888]|not provided [RCV002094322] Chr19:6495683 [GRCh38]
Chr19:6495694 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.156C>T (p.Asn52=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002146671]|not provided [RCV002264475] Chr19:6501525 [GRCh38]
Chr19:6501536 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.1071G>A (p.Pro357=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002205793] Chr19:6495428 [GRCh38]
Chr19:6495439 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.774T>A (p.Val258=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002193211] Chr19:6495725 [GRCh38]
Chr19:6495736 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.57+13C>T single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002095256] Chr19:6502143 [GRCh38]
Chr19:6502154 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.539T>C (p.Val180Ala) single nucleotide variant not provided [RCV002214086] Chr19:6495960 [GRCh38]
Chr19:6495971 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_006087.4(TUBB4A):c.639C>T (p.Arg213=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002193899] Chr19:6495860 [GRCh38]
Chr19:6495871 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.1029G>A (p.Glu343=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002114199] Chr19:6495470 [GRCh38]
Chr19:6495481 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.354C>T (p.Asp118=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002193948] Chr19:6496145 [GRCh38]
Chr19:6496156 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.57+12A>G single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002117884] Chr19:6502144 [GRCh38]
Chr19:6502155 [GRCh37]
Chr19:19p13.3
benign
NM_006087.4(TUBB4A):c.804C>T (p.Pro268=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002154324] Chr19:6495695 [GRCh38]
Chr19:6495706 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.1317G>A (p.Ala439=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002218975] Chr19:6495182 [GRCh38]
Chr19:6495193 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.349C>T (p.Leu117=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002082366] Chr19:6496150 [GRCh38]
Chr19:6496161 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.511C>A (p.Pro171Thr) single nucleotide variant See cases [RCV002253111] Chr19:6495988 [GRCh38]
Chr19:6495999 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.714C>T (p.Thr238=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002156113] Chr19:6495785 [GRCh38]
Chr19:6495796 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.336G>T (p.Leu112=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002161180] Chr19:6496163 [GRCh38]
Chr19:6496174 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.1077C>T (p.Arg359=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002098897] Chr19:6495422 [GRCh38]
Chr19:6495433 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.57+7G>C single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002121425] Chr19:6502149 [GRCh38]
Chr19:6502160 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.1281C>T (p.Asp427=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002179185] Chr19:6495218 [GRCh38]
Chr19:6495229 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.930C>T (p.Tyr310=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002154313] Chr19:6495569 [GRCh38]
Chr19:6495580 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.57+20C>T single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002177811] Chr19:6502136 [GRCh38]
Chr19:6502147 [GRCh37]
Chr19:19p13.3
benign
NM_006087.4(TUBB4A):c.381C>T (p.Cys127=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002084456] Chr19:6496118 [GRCh38]
Chr19:6496129 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.690G>A (p.Ser230=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002099431] Chr19:6495809 [GRCh38]
Chr19:6495820 [GRCh37]
Chr19:19p13.3
likely benign
NC_000019.9:g.(?_6361586)_(8212364_?)del deletion Mucolipidosis type IV [RCV003109715] Chr19:6361586..8212364 [GRCh37]
Chr19:19p13.3-13.2
pathogenic
NC_000019.9:g.(?_6495175)_(6496252_?)del deletion Hypomyelinating leukodystrophy 6 [RCV003116526] Chr19:6495175..6496252 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_6495175)_(6502223_?)del deletion Hypomyelinating leukodystrophy 6 [RCV003116527] Chr19:6495175..6502223 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.362G>A (p.Arg121Gln) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002254376] Chr19:6496137 [GRCh38]
Chr19:6496148 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.211G>A (p.Gly71Ser) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV003148341] Chr19:6501353 [GRCh38]
Chr19:6501364 [GRCh37]
Chr19:19p13.3
likely pathogenic|uncertain significance
NM_006087.4(TUBB4A):c.1139G>T (p.Arg380Leu) single nucleotide variant not provided [RCV003237244] Chr19:6495360 [GRCh38]
Chr19:6495371 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.1160C>A (p.Ala387Asp) single nucleotide variant not provided [RCV002267535] Chr19:6495339 [GRCh38]
Chr19:6495350 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.722G>C (p.Arg241Pro) single nucleotide variant Torsion dystonia 4 [RCV002267599] Chr19:6495777 [GRCh38]
Chr19:6495788 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.544C>T (p.Pro182Ser) single nucleotide variant Torsion dystonia 4 [RCV002262174] Chr19:6495955 [GRCh38]
Chr19:6495966 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_006087.4(TUBB4A):c.487A>G (p.Ile163Val) single nucleotide variant not provided [RCV002267328] Chr19:6496012 [GRCh38]
Chr19:6496023 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.1289C>A (p.Ala430Asp) single nucleotide variant Torsion dystonia 4 [RCV003148336] Chr19:6495210 [GRCh38]
Chr19:6495221 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.493A>G (p.Asn165Asp) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002471533] Chr19:6496006 [GRCh38]
Chr19:6496017 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_006087.4(TUBB4A):c.571C>T (p.Gln191Ter) single nucleotide variant Classic medulloblastoma [RCV003232622] Chr19:6495928 [GRCh38]
Chr19:6495939 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.664T>G (p.Tyr222Asp) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002297923] Chr19:6495835 [GRCh38]
Chr19:6495846 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.982G>A (p.Glu328Lys) single nucleotide variant Torsion dystonia 4 [RCV002295367] Chr19:6495517 [GRCh38]
Chr19:6495528 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.414G>T (p.Ser138=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002975189] Chr19:6496085 [GRCh38]
Chr19:6496096 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.115G>T (p.Asp39Tyr) single nucleotide variant Inborn genetic diseases [RCV002864518] Chr19:6501566 [GRCh38]
Chr19:6501577 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.58-12CT[4] microsatellite Hypomyelinating leukodystrophy 6 [RCV003077906] Chr19:6501626..6501627 [GRCh38]
Chr19:6501637..6501638 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.387C>T (p.Cys129=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002871006] Chr19:6496112 [GRCh38]
Chr19:6496123 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.234T>C (p.Ser78=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002953281] Chr19:6501330 [GRCh38]
Chr19:6501341 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.882C>T (p.Phe294=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002638002] Chr19:6495617 [GRCh38]
Chr19:6495628 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.166+8G>A single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV003002662] Chr19:6501507 [GRCh38]
Chr19:6501518 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.906G>C (p.Ala302=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002592380] Chr19:6495593 [GRCh38]
Chr19:6495604 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.577G>A (p.Val193Met) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV003018121] Chr19:6495922 [GRCh38]
Chr19:6495933 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.1074C>T (p.Pro358=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002591147] Chr19:6495425 [GRCh38]
Chr19:6495436 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.157G>A (p.Glu53Lys) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002637061] Chr19:6501524 [GRCh38]
Chr19:6501535 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.36C>T (p.Cys12=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002957698] Chr19:6502177 [GRCh38]
Chr19:6502188 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.805G>A (p.Gly269Ser) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002790252] Chr19:6495694 [GRCh38]
Chr19:6495705 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.1125G>A (p.Gln375=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002574286] Chr19:6495374 [GRCh38]
Chr19:6495385 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.998T>C (p.Val333Ala) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002766285] Chr19:6495501 [GRCh38]
Chr19:6495512 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.373G>C (p.Glu125Gln) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002710232] Chr19:6496126 [GRCh38]
Chr19:6496137 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.535G>A (p.Val179Met) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002872631] Chr19:6495964 [GRCh38]
Chr19:6495975 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.914C>T (p.Pro305Leu) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV003057070] Chr19:6495585 [GRCh38]
Chr19:6495596 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.737T>C (p.Leu246Pro) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV003057342] Chr19:6495762 [GRCh38]
Chr19:6495773 [GRCh37]
Chr19:19p13.3
pathogenic
NM_006087.4(TUBB4A):c.954G>C (p.Arg318=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV003084448] Chr19:6495545 [GRCh38]
Chr19:6495556 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.1316_1327del (p.Ala439_Glu442del) deletion Hypomyelinating leukodystrophy 6 [RCV002651863] Chr19:6495172..6495183 [GRCh38]
Chr19:6495183..6495194 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.466C>T (p.Arg156Cys) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002647578] Chr19:6496033 [GRCh38]
Chr19:6496044 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.845G>A (p.Arg282Gln) single nucleotide variant Inborn genetic diseases [RCV002809501] Chr19:6495654 [GRCh38]
Chr19:6495665 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.1093G>A (p.Ala365Thr) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002629035] Chr19:6495406 [GRCh38]
Chr19:6495417 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.429G>A (p.Thr143=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002938241]|not provided [RCV003222450] Chr19:6496070 [GRCh38]
Chr19:6496081 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.1104C>T (p.Ile368=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002599865] Chr19:6495395 [GRCh38]
Chr19:6495406 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.375G>T (p.Glu125Asp) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002815009] Chr19:6496124 [GRCh38]
Chr19:6496135 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.468C>G (p.Arg156=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002815008] Chr19:6496031 [GRCh38]
Chr19:6496042 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.162C>T (p.Ala54=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV003050687] Chr19:6501519 [GRCh38]
Chr19:6501530 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.606C>T (p.Ile202=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV003067065] Chr19:6495893 [GRCh38]
Chr19:6495904 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.597C>T (p.Thr199=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV002608769] Chr19:6495902 [GRCh38]
Chr19:6495913 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.852G>A (p.Leu284=) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV003071272] Chr19:6495647 [GRCh38]
Chr19:6495658 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.1060T>A (p.Cys354Ser) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV003066282] Chr19:6495439 [GRCh38]
Chr19:6495450 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.1331C>T (p.Ala444Val) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV003071968] Chr19:6495168 [GRCh38]
Chr19:6495179 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.740A>T (p.Asn247Ile) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV003142232] Chr19:6495759 [GRCh38]
Chr19:6495770 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.537G>A (p.Val179=) single nucleotide variant not provided [RCV003139189] Chr19:6495962 [GRCh38]
Chr19:6495973 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001289129.2(TUBB4A):c.-75G>C single nucleotide variant not provided [RCV003222958] Chr19:6502703 [GRCh38]
Chr19:6502714 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.902C>T (p.Ala301Val) single nucleotide variant not provided [RCV003325824] Chr19:6495597 [GRCh38]
Chr19:6495608 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_006087.4(TUBB4A):c.291C>T (p.Ala97=) single nucleotide variant not provided [RCV003423266] Chr19:6496208 [GRCh38]
Chr19:6496219 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.612C>T (p.Asn204=) single nucleotide variant not provided [RCV003334209] Chr19:6495887 [GRCh38]
Chr19:6495898 [GRCh37]
Chr19:19p13.3
likely benign
NM_001289123.2(TUBB4A):c.56C>A (p.Pro19Gln) single nucleotide variant TUBB4A-related condition [RCV003422485] Chr19:6502310 [GRCh38]
Chr19:6502321 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001289123.2(TUBB4A):c.10G>A (p.Gly4Arg) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV003448752] Chr19:6502702 [GRCh38]
Chr19:6502713 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3 copy number gain not provided [RCV003485190] Chr19:260912..7246777 [GRCh37]
Chr19:19p13.3-13.2
pathogenic
NM_006087.4(TUBB4A):c.504C>T (p.Ser168=) single nucleotide variant not provided [RCV003423265] Chr19:6495995 [GRCh38]
Chr19:6496006 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.1287G>C (p.Thr429=) single nucleotide variant not provided [RCV003423264] Chr19:6495212 [GRCh38]
Chr19:6495223 [GRCh37]
Chr19:19p13.3
likely benign
NM_006087.4(TUBB4A):c.277+538_277+541dup duplication not provided [RCV003421772] Chr19:6500745..6500746 [GRCh38]
Chr19:6500756..6500757 [GRCh37]
Chr19:19p13.3
benign
NM_006087.4(TUBB4A):c.436G>A (p.Gly146Arg) single nucleotide variant Hypomyelinating leukodystrophy 6 [RCV003879283] Chr19:6496063 [GRCh38]
Chr19:6496074 [GRCh37]
Chr19:19p13.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5029
Count of miRNA genes:973
Interacting mature miRNAs:1183
Transcripts:ENST00000264071, ENST00000540257, ENST00000594075, ENST00000594276, ENST00000594290, ENST00000595324, ENST00000596291, ENST00000596926, ENST00000597686, ENST00000598006, ENST00000598635, ENST00000600216, ENST00000601152, ENST00000601640
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
PMC156124P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371690,001,455 - 90,001,752UniSTSGRCh37
GRCh37196,495,617 - 6,495,914UniSTSGRCh37
Build 361688,528,956 - 88,529,253RGDNCBI36
Celera1675,066,545 - 75,066,842RGD
Celera196,435,437 - 6,435,734UniSTS
HuRef196,258,351 - 6,258,648UniSTS
HuRef1675,694,472 - 75,694,769UniSTS
PMC314434P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37196,501,387 - 6,502,309UniSTSGRCh37
Build 36196,452,387 - 6,453,309RGDNCBI36
Celera196,441,209 - 6,442,131RGD
Cytogenetic Map19p13.3UniSTS
HuRef196,264,123 - 6,265,045UniSTS
G19977  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37196,494,429 - 6,494,647UniSTSGRCh37
Build 36196,445,429 - 6,445,647RGDNCBI36
Celera196,434,249 - 6,434,467RGD
Cytogenetic Map19p13.3UniSTS
HuRef196,257,163 - 6,257,381UniSTS
A002C41  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37196,494,429 - 6,494,647UniSTSGRCh37
Build 36196,445,429 - 6,445,647RGDNCBI36
Celera196,434,249 - 6,434,467RGD
Cytogenetic Map19p13.3UniSTS
HuRef196,257,163 - 6,257,381UniSTS
GeneMap99-GB4 RH Map1935.68UniSTS
RH66664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37196,494,383 - 6,494,523UniSTSGRCh37
Build 36196,445,383 - 6,445,523RGDNCBI36
Celera196,434,203 - 6,434,343RGD
Cytogenetic Map19p13.3UniSTS
HuRef196,257,117 - 6,257,257UniSTS
GeneMap99-GB4 RH Map1935.78UniSTS
NCBI RH Map1910.0UniSTS


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 205
Medium 84 3 307 30 159 30 803 35 3099 75 490 57 1 560
Low 1911 1370 695 187 1309 105 2472 1777 375 241 575 835 86 719 1513 1
Below cutoff 418 1594 699 387 471 311 1066 381 51 93 377 704 85 1 484 706 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ783906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA265791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA302559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC303150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC314277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC353527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC354036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000264071   ⟹   ENSP00000264071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,494,319 - 6,502,309 (-)Ensembl
RefSeq Acc Id: ENST00000594075   ⟹   ENSP00000469936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,495,807 - 6,502,309 (-)Ensembl
RefSeq Acc Id: ENST00000594276   ⟹   ENSP00000472481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,495,722 - 6,502,309 (-)Ensembl
RefSeq Acc Id: ENST00000594290   ⟹   ENSP00000471503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,496,170 - 6,502,309 (-)Ensembl
RefSeq Acc Id: ENST00000595324   ⟹   ENSP00000469560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,495,905 - 6,502,309 (-)Ensembl
RefSeq Acc Id: ENST00000596291   ⟹   ENSP00000471880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,496,061 - 6,501,787 (-)Ensembl
RefSeq Acc Id: ENST00000596926   ⟹   ENSP00000468843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,496,142 - 6,502,309 (-)Ensembl
RefSeq Acc Id: ENST00000597686   ⟹   ENSP00000472375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,496,131 - 6,502,844 (-)Ensembl
RefSeq Acc Id: ENST00000598006   ⟹   ENSP00000472795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,496,016 - 6,502,337 (-)Ensembl
RefSeq Acc Id: ENST00000598635   ⟹   ENSP00000470627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,496,179 - 6,502,803 (-)Ensembl
RefSeq Acc Id: ENST00000600216   ⟹   ENSP00000470983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,495,808 - 6,502,309 (-)Ensembl
RefSeq Acc Id: ENST00000601152   ⟹   ENSP00000471320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,495,959 - 6,502,338 (-)Ensembl
RefSeq Acc Id: ENST00000601640   ⟹   ENSP00000469660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,496,176 - 6,502,848 (-)Ensembl
RefSeq Acc Id: NM_001289123   ⟹   NP_001276052
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,494,319 - 6,502,848 (-)NCBI
HuRef196,257,064 - 6,265,595 (-)NCBI
CHM1_1196,493,927 - 6,502,443 (-)NCBI
T2T-CHM13v2.0196,483,817 - 6,492,345 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001289127   ⟹   NP_001276056
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,494,319 - 6,502,848 (-)NCBI
HuRef196,257,064 - 6,265,595 (-)NCBI
CHM1_1196,493,927 - 6,502,443 (-)NCBI
T2T-CHM13v2.0196,483,817 - 6,492,345 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001289129   ⟹   NP_001276058
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,494,319 - 6,502,848 (-)NCBI
HuRef196,257,064 - 6,265,595 (-)NCBI
CHM1_1196,493,927 - 6,502,443 (-)NCBI
T2T-CHM13v2.0196,483,817 - 6,492,345 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001289130   ⟹   NP_001276059
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,494,319 - 6,502,309 (-)NCBI
HuRef196,257,064 - 6,265,595 (-)NCBI
CHM1_1196,493,927 - 6,502,179 (-)NCBI
T2T-CHM13v2.0196,483,817 - 6,491,806 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001289131   ⟹   NP_001276060
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,494,319 - 6,502,309 (-)NCBI
HuRef196,257,064 - 6,265,595 (-)NCBI
CHM1_1196,493,927 - 6,502,179 (-)NCBI
T2T-CHM13v2.0196,483,817 - 6,491,806 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006087   ⟹   NP_006078
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,494,319 - 6,502,309 (-)NCBI
GRCh37196,494,330 - 6,502,595 (-)NCBI
Build 36196,445,330 - 6,453,330 (-)NCBI Archive
HuRef196,257,064 - 6,265,595 (-)NCBI
CHM1_1196,493,927 - 6,502,179 (-)NCBI
T2T-CHM13v2.0196,483,817 - 6,491,806 (-)NCBI
Sequence:
RefSeq Acc Id: NP_006078   ⟸   NM_006087
- Peptide Label: isoform 3
- UniProtKB: B3KQP4 (UniProtKB/Swiss-Prot),   Q969E5 (UniProtKB/Swiss-Prot),   P04350 (UniProtKB/Swiss-Prot),   Q8IZ29 (UniProtKB/TrEMBL),   Q8N6N5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276058   ⟸   NM_001289129
- Peptide Label: isoform 3
- UniProtKB: B3KQP4 (UniProtKB/Swiss-Prot),   Q969E5 (UniProtKB/Swiss-Prot),   P04350 (UniProtKB/Swiss-Prot),   Q8IZ29 (UniProtKB/TrEMBL),   Q8N6N5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276056   ⟸   NM_001289127
- Peptide Label: isoform 2
- UniProtKB: Q8IZ29 (UniProtKB/TrEMBL),   Q8N6N5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276052   ⟸   NM_001289123
- Peptide Label: isoform 1
- UniProtKB: Q8IZ29 (UniProtKB/TrEMBL),   Q8N6N5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276060   ⟸   NM_001289131
- Peptide Label: isoform 4
- UniProtKB: B4DQN9 (UniProtKB/TrEMBL),   B7ZAK1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276059   ⟸   NM_001289130
- Peptide Label: isoform 4
- UniProtKB: B4DQN9 (UniProtKB/TrEMBL),   B7ZAK1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000469560   ⟸   ENST00000595324
RefSeq Acc Id: ENSP00000471880   ⟸   ENST00000596291
RefSeq Acc Id: ENSP00000468843   ⟸   ENST00000596926
RefSeq Acc Id: ENSP00000472375   ⟸   ENST00000597686
RefSeq Acc Id: ENSP00000472795   ⟸   ENST00000598006
RefSeq Acc Id: ENSP00000470627   ⟸   ENST00000598635
RefSeq Acc Id: ENSP00000470983   ⟸   ENST00000600216
RefSeq Acc Id: ENSP00000469660   ⟸   ENST00000601640
RefSeq Acc Id: ENSP00000471320   ⟸   ENST00000601152
RefSeq Acc Id: ENSP00000264071   ⟸   ENST00000264071
RefSeq Acc Id: ENSP00000472481   ⟸   ENST00000594276
RefSeq Acc Id: ENSP00000471503   ⟸   ENST00000594290
RefSeq Acc Id: ENSP00000469936   ⟸   ENST00000594075
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P04350-F1-model_v2 AlphaFold P04350 1-444 view protein structure

Promoters
RGD ID:6796170
Promoter ID:HG_KWN:28662
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:NM_006087,   UC002MFF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36196,453,046 - 6,453,546 (-)MPROMDB
RGD ID:6851994
Promoter ID:EP73803
Type:multiple initiation site
Name:HS_TUBB5
Description:Tubulin, beta, 5.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36196,453,320 - 6,453,380EPD
RGD ID:7238229
Promoter ID:EPDNEW_H24860
Type:initiation region
Name:TUBB4A_1
Description:tubulin beta 4A class IVa
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
GRCh38196,502,309 - 6,502,369EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20774 AgrOrtholog
COSMIC TUBB4A COSMIC
Ensembl Genes ENSG00000104833 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264071 ENTREZGENE
  ENST00000264071.7 UniProtKB/Swiss-Prot
  ENST00000594075.5 UniProtKB/TrEMBL
  ENST00000594276.5 UniProtKB/TrEMBL
  ENST00000594290.5 UniProtKB/TrEMBL
  ENST00000595324.5 UniProtKB/TrEMBL
  ENST00000596291.1 UniProtKB/TrEMBL
  ENST00000596926.5 UniProtKB/TrEMBL
  ENST00000597686.5 UniProtKB/TrEMBL
  ENST00000598006.1 UniProtKB/TrEMBL
  ENST00000598635.1 UniProtKB/TrEMBL
  ENST00000600216.5 UniProtKB/TrEMBL
  ENST00000601152.5 UniProtKB/TrEMBL
  ENST00000601640.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.600 UniProtKB/Swiss-Prot
  3.30.1330.20 UniProtKB/Swiss-Prot
  3.40.50.1440 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helix hairpin bin UniProtKB/TrEMBL
  Tubulin/FtsZ, C-terminal domain UniProtKB/TrEMBL
GTEx ENSG00000104833 GTEx
HGNC ID HGNC:20774 ENTREZGENE
Human Proteome Map TUBB4A Human Proteome Map
InterPro Beta-tubulin_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Beta_tubulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Epsilon_tubulin UniProtKB/TrEMBL
  Tub_FtsZ_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin/FtsZ-like_C UniProtKB/TrEMBL
  Tubulin/FtsZ_2-layer-sand-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin/FtsZ_C_sf UniProtKB/Swiss-Prot
  Tubulin/FtsZ_GTPase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin_FtsZ_GTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10382 UniProtKB/Swiss-Prot
NCBI Gene 10382 ENTREZGENE
OMIM 602662 OMIM
PANTHER PTHR11588 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TUBULIN BETA CHAIN UniProtKB/TrEMBL
  TUBULIN BETA-1 CHAIN-RELATED UniProtKB/TrEMBL
  TUBULIN BETA-4A CHAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TUBULIN BETA-4B CHAIN UniProtKB/TrEMBL
Pfam Tubulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134949465 PharmGKB
PRINTS BETATUBULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EPSLNTUBULIN UniProtKB/TrEMBL
  TUBULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TUBULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TUBULIN_B_AUTOREG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Tubulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52490 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55307 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KQP4 ENTREZGENE
  B4DQN9 ENTREZGENE
  B7ZAK1 ENTREZGENE, UniProtKB/TrEMBL
  M0QX14_HUMAN UniProtKB/TrEMBL
  M0QY37_HUMAN UniProtKB/TrEMBL
  M0QY85_HUMAN UniProtKB/TrEMBL
  M0QYM7_HUMAN UniProtKB/TrEMBL
  M0QZL7_HUMAN UniProtKB/TrEMBL
  M0R042_HUMAN UniProtKB/TrEMBL
  M0R0M1_HUMAN UniProtKB/TrEMBL
  M0R0X0_HUMAN UniProtKB/TrEMBL
  M0R1I1_HUMAN UniProtKB/TrEMBL
  M0R278_HUMAN UniProtKB/TrEMBL
  M0R2D3_HUMAN UniProtKB/TrEMBL
  M0R2T4_HUMAN UniProtKB/TrEMBL
  P04350 ENTREZGENE
  Q8IZ29 ENTREZGENE, UniProtKB/TrEMBL
  Q8N6N5 ENTREZGENE, UniProtKB/TrEMBL
  Q969E5 ENTREZGENE
  TBB4A_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B3KQP4 UniProtKB/Swiss-Prot
  Q969E5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 TUBB4A  tubulin beta 4A class IVa  DYT4  dystonia 4, torsion (autosomal dominant)  Data merged from RGD:1350596 737654 PROVISIONAL
2015-12-22 TUBB4A  tubulin beta 4A class IVa    tubulin, beta 4A class IVa  Symbol and/or name change 5135510 APPROVED
2011-10-18 TUBB4A  tubulin, beta 4A class IVa  TUBB4  tubulin, beta 4  Symbol and/or name change 5135510 APPROVED