MYO9A (myosin IXA) - Rat Genome Database

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Gene: MYO9A (myosin IXA) Homo sapiens
Analyze
Symbol: MYO9A
Name: myosin IXA
RGD ID: 732261
HGNC Page HGNC
Description: Predicted to enable GTPase activator activity. Involved in cell junction assembly and establishment of epithelial cell apical/basal polarity. Predicted to be located in axonal growth cone. Predicted to be part of myosin complex. Implicated in congenital myasthenic syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CMS24; FLJ11061; FLJ13244; MGC71859; MYO9A variant protein; myosin-IXa; unconventional myosin-9a; unconventional myosin-IXa
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1571,822,291 - 72,118,577 (-)EnsemblGRCh38hg38GRCh38
GRCh381571,822,291 - 72,118,577 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371572,114,632 - 72,410,491 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361569,905,405 - 70,197,476 (-)NCBINCBI36hg18NCBI36
Build 341569,905,416 - 70,197,245NCBI
Celera1549,004,720 - 49,296,754 (-)NCBI
Cytogenetic Map15q23NCBI
HuRef1548,948,830 - 49,240,766 (-)NCBIHuRef
CHM1_11572,236,489 - 72,528,413 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal foot morphology  (IAGP)
Apnea  (IAGP)
Apneic episodes precipitated by illness, fatigue, stress  (IAGP)
Areflexia  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Ataxia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bronchiectasis  (IAGP)
Bulbar palsy  (IAGP)
Camptodactyly  (IAGP)
Central sleep apnea  (IAGP)
Choking episodes  (IAGP)
Colon cancer  (IAGP)
Congenital hip dislocation  (IAGP)
Cyanosis  (IAGP)
Decreased fetal movement  (IAGP)
Delayed ability to walk  (IAGP)
Delayed speech and language development  (IAGP)
Difficulty walking  (IAGP)
Diplopia  (IAGP)
Distal amyotrophy  (IAGP)
Distal lower limb muscle weakness  (IAGP)
Dysphagia  (IAGP)
Dysphonia  (IAGP)
Easy fatigability  (IAGP)
EEG with polyspike wave complexes  (IAGP)
EMG: impaired neuromuscular transmission  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Episodic respiratory distress  (IAGP)
Esotropia  (IAGP)
Fatigable weakness  (IAGP)
Feeding difficulties  (IAGP)
Flexion contracture  (IAGP)
Frontalis muscle weakness  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized muscle weakness  (IAGP)
High palate  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intermittent episodes of respiratory insufficiency due to muscle weakness  (IAGP)
Joint laxity  (IAGP)
Knee flexion contracture  (IAGP)
Kyphoscoliosis  (IAGP)
Limb-girdle muscle weakness  (IAGP)
Long face  (IAGP)
Low-set ears  (IAGP)
Microretrognathia  (IAGP)
Motor delay  (IAGP)
Motor polyneuropathy  (IAGP)
Muscle fiber atrophy  (IAGP)
Muscle weakness  (IAGP)
Narrow jaw  (IAGP)
Nasal regurgitation  (IAGP)
Nasal speech  (IAGP)
Neck muscle weakness  (IAGP)
Nystagmus  (IAGP)
Obstructive sleep apnea  (IAGP)
Oculomotor apraxia  (IAGP)
Ophthalmoplegia  (IAGP)
Pectus carinatum  (IAGP)
Pes cavus  (IAGP)
Polyhydramnios  (IAGP)
Poor head control  (IAGP)
Poor suck  (IAGP)
Proximal muscle weakness  (IAGP)
Ptosis  (IAGP)
Recurrent respiratory infections  (IAGP)
Respiratory arrest  (IAGP)
Respiratory insufficiency  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Spinal deformities  (IAGP)
Spinal rigidity  (IAGP)
Staring gaze  (IAGP)
Stridor  (IAGP)
Sudden episodic apnea  (IAGP)
Toe walking  (IAGP)
Waddling gait  (IAGP)
Weak cry  (IAGP)
References

Additional References at PubMed
PMID:8022818   PMID:10409426   PMID:12477932   PMID:14702039   PMID:15644318   PMID:16169070   PMID:16204458   PMID:16344560   PMID:16712791   PMID:17314511   PMID:19156129   PMID:20301347  
PMID:20881960   PMID:20936779   PMID:22305756   PMID:22658674   PMID:22891260   PMID:23319000   PMID:23870313   PMID:24613305   PMID:25963833   PMID:26186194   PMID:26320552   PMID:26496610  
PMID:26514267   PMID:26638075   PMID:27259756   PMID:27956608   PMID:28065597   PMID:28330616   PMID:28514442   PMID:28611215   PMID:28986522   PMID:29467282   PMID:29507755   PMID:30021884  
PMID:30940648   PMID:31091453   PMID:31586073   PMID:31980649   PMID:32203420   PMID:32451867   PMID:33412162   PMID:33961781   PMID:34079125  


Genomics

Comparative Map Data
MYO9A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1571,822,291 - 72,118,577 (-)EnsemblGRCh38hg38GRCh38
GRCh381571,822,291 - 72,118,577 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371572,114,632 - 72,410,491 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361569,905,405 - 70,197,476 (-)NCBINCBI36hg18NCBI36
Build 341569,905,416 - 70,197,245NCBI
Celera1549,004,720 - 49,296,754 (-)NCBI
Cytogenetic Map15q23NCBI
HuRef1548,948,830 - 49,240,766 (-)NCBIHuRef
CHM1_11572,236,489 - 72,528,413 (-)NCBICHM1_1
Myo9a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39959,658,128 - 59,836,149 (+)NCBIGRCm39mm39
GRCm39 Ensembl959,658,179 - 59,836,149 (+)Ensembl
GRCm38959,750,848 - 59,928,866 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl959,750,896 - 59,928,866 (+)EnsemblGRCm38mm10GRCm38
MGSCv37959,598,981 - 59,776,673 (+)NCBIGRCm37mm9NCBIm37
MGSCv36959,549,191 - 59,726,872 (+)NCBImm8
Celera956,978,493 - 57,156,228 (+)NCBICelera
Cytogenetic Map9BNCBI
cM Map932.13NCBI
Myo9a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2860,149,234 - 60,348,726 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl860,149,234 - 60,350,514 (+)Ensembl
Rnor_6.0864,573,248 - 64,777,607 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl864,573,358 - 64,777,543 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0864,335,907 - 64,534,890 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4863,578,001 - 63,783,813 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1863,597,054 - 63,802,860 (+)NCBI
Celera859,592,114 - 59,790,799 (+)NCBICelera
Cytogenetic Map8q24NCBI
Myo9a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554505,049,864 - 5,252,721 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554505,049,797 - 5,256,934 (+)NCBIChiLan1.0ChiLan1.0
MYO9A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11569,537,071 - 69,833,597 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1569,541,318 - 69,760,771 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01550,771,747 - 51,069,700 (-)NCBIMhudiblu_PPA_v0panPan3
MYO9A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13035,386,299 - 35,606,993 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3035,389,424 - 35,606,859 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3035,322,734 - 35,586,056 (-)NCBI
ROS_Cfam_1.03035,592,114 - 35,853,053 (-)NCBI
UMICH_Zoey_3.13035,542,999 - 35,806,184 (-)NCBI
UNSW_CanFamBas_1.03035,570,983 - 35,834,592 (-)NCBI
UU_Cfam_GSD_1.03035,825,200 - 36,087,946 (-)NCBI
Myo9a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640113,407,324 - 113,700,707 (-)NCBI
SpeTri2.0NW_00493647131,255,387 - 31,548,819 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MYO9A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1169,373,888 - 169,596,636 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11169,370,028 - 169,596,771 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21188,117,293 - 188,197,196 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MYO9A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12611,339,033 - 11,640,982 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2611,339,246 - 11,639,956 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666048129,926,660 - 130,235,887 (-)NCBIVero_WHO_p1.0
Myo9a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247811,900,669 - 2,179,269 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D15S197  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,385,206 - 72,385,371UniSTSGRCh37
GRCh371572,385,167 - 72,385,312UniSTSGRCh37
Build 361570,172,260 - 70,172,425RGDNCBI36
Celera1549,271,489 - 49,271,634UniSTS
Celera1549,271,528 - 49,271,693RGD
Cytogenetic Map15q22-q23UniSTS
HuRef1549,215,870 - 49,216,035UniSTS
HuRef1549,215,831 - 49,215,976UniSTS
Marshfield Genetic Map1572.94UniSTS
Marshfield Genetic Map1572.94RGD
Genethon Genetic Map1571.3UniSTS
TNG Radiation Hybrid Map1527401.0UniSTS
Stanford-G3 RH Map152441.0UniSTS
GeneMap99-GB4 RH Map15253.26UniSTS
Whitehead-RH Map15245.7UniSTS
Whitehead-YAC Contig Map15 UniSTS
NCBI RH Map15443.6UniSTS
GeneMap99-G3 RH Map152436.0UniSTS
D15S204  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,300,758 - 72,300,879UniSTSGRCh37
Build 361570,087,812 - 70,087,933RGDNCBI36
Celera1549,187,076 - 49,187,197RGD
Cytogenetic Map15q22-q23UniSTS
HuRef1549,131,378 - 49,131,493UniSTS
Marshfield Genetic Map1571.82UniSTS
Marshfield Genetic Map1571.82RGD
Genethon Genetic Map1571.3UniSTS
D17S713  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,348,681 - 72,348,803UniSTSGRCh37
Build 361570,135,735 - 70,135,857RGDNCBI36
Celera1549,234,997 - 49,235,119RGD
Celera1774,182,685 - 74,182,834UniSTS
Cytogenetic Map15q22-q23UniSTS
HuRef1772,999,427 - 72,999,576UniSTS
WI-17911  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,122,840 - 72,122,942UniSTSGRCh37
Build 361569,909,894 - 69,909,996RGDNCBI36
Celera1549,009,195 - 49,009,297RGD
Cytogenetic Map15q22-q23UniSTS
HuRef1548,953,310 - 48,953,412UniSTS
GeneMap99-GB4 RH Map15255.26UniSTS
Whitehead-RH Map15246.9UniSTS
NCBI RH Map15443.8UniSTS
RH79619  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,139,996 - 72,140,241UniSTSGRCh37
Build 361569,927,050 - 69,927,295RGDNCBI36
Celera1549,026,349 - 49,026,594RGD
Cytogenetic Map15q22-q23UniSTS
HuRef1548,970,464 - 48,970,709UniSTS
GeneMap99-GB4 RH Map15255.46UniSTS
RH119152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,203,788 - 72,204,093UniSTSGRCh37
Build 361569,990,842 - 69,991,147RGDNCBI36
Celera1549,090,121 - 49,090,426RGD
Cytogenetic Map15q22-q23UniSTS
HuRef1549,034,431 - 49,034,736UniSTS
TNG Radiation Hybrid Map1527288.0UniSTS
D15S110  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,228,195 - 72,228,304UniSTSGRCh37
Build 361570,015,249 - 70,015,358RGDNCBI36
Celera1549,114,484 - 49,114,597RGD
Cytogenetic Map15q22-q23UniSTS
HuRef1549,058,792 - 49,058,893UniSTS
G65645  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,123,364 - 72,123,532UniSTSGRCh37
Build 361569,910,418 - 69,910,586RGDNCBI36
Celera1549,009,718 - 49,009,886RGD
Cytogenetic Map15q22-q23UniSTS
HuRef1548,953,833 - 48,954,001UniSTS
SGC31120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,163,245 - 72,163,372UniSTSGRCh37
Build 361569,950,299 - 69,950,426RGDNCBI36
Celera1549,049,579 - 49,049,706RGD
Cytogenetic Map15q22-q23UniSTS
HuRef1548,993,730 - 48,993,857UniSTS
GeneMap99-GB4 RH Map15255.26UniSTS
Whitehead-RH Map15246.9UniSTS
NCBI RH Map15443.8UniSTS
RH68081  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,338,824 - 72,338,959UniSTSGRCh37
Build 361570,125,878 - 70,126,013RGDNCBI36
Celera1549,225,139 - 49,225,274RGD
Cytogenetic Map15q22-q23UniSTS
HuRef1549,169,439 - 49,169,574UniSTS
GeneMap99-GB4 RH Map15255.98UniSTS
MYO9A_8489  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,118,196 - 72,119,063UniSTSGRCh37
Build 361569,905,250 - 69,906,117RGDNCBI36
Celera1549,004,566 - 49,005,419RGD
HuRef1548,948,665 - 48,949,534UniSTS
D15S1331  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,408,901 - 72,409,053UniSTSGRCh37
Build 361570,195,955 - 70,196,107RGDNCBI36
Celera1549,295,233 - 49,295,385RGD
Cytogenetic Map15q23UniSTS
Cytogenetic Map15q22-q23UniSTS
HuRef1549,239,227 - 49,239,379UniSTS
RH65452  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,302,432 - 72,302,514UniSTSGRCh37
Build 361570,089,486 - 70,089,568RGDNCBI36
Celera1549,188,750 - 49,188,832RGD
Cytogenetic Map15q22-q23UniSTS
HuRef1549,133,048 - 49,133,130UniSTS
GeneMap99-GB4 RH Map15253.26UniSTS
NCBI RH Map15436.8UniSTS
SHGC-31014  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,123,371 - 72,123,499UniSTSGRCh37
Build 361569,910,425 - 69,910,553RGDNCBI36
Celera1549,009,725 - 49,009,853RGD
Cytogenetic Map15q22-q23UniSTS
HuRef1548,953,840 - 48,953,968UniSTS
Stanford-G3 RH Map152425.0UniSTS
GeneMap99-GB4 RH Map15256.69UniSTS
Whitehead-RH Map15246.9UniSTS
NCBI RH Map15444.9UniSTS
GeneMap99-G3 RH Map152420.0UniSTS
STS-H02614  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,281,820 - 72,281,941UniSTSGRCh37
Build 361570,068,874 - 70,068,995RGDNCBI36
Celera1549,168,135 - 49,168,256RGD
Cytogenetic Map15q22-q23UniSTS
HuRef1549,112,437 - 49,112,558UniSTS
GeneMap99-GB4 RH Map15255.36UniSTS
STS-T57042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,227,154 - 72,227,370UniSTSGRCh37
Build 361570,014,208 - 70,014,424RGDNCBI36
Celera1549,113,443 - 49,113,659RGD
Cytogenetic Map15q22-q23UniSTS
HuRef1549,057,751 - 49,057,967UniSTS
GeneMap99-GB4 RH Map15256.65UniSTS
NCBI RH Map15481.1UniSTS
A005Y05  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,281,826 - 72,281,931UniSTSGRCh37
Build 361570,068,880 - 70,068,985RGDNCBI36
Celera1549,168,141 - 49,168,246RGD
Cytogenetic Map15q22-q23UniSTS
HuRef1549,112,443 - 49,112,548UniSTS
GeneMap99-GB4 RH Map15256.87UniSTS
NCBI RH Map15491.8UniSTS
D15S1267  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,118,544 - 72,118,690UniSTSGRCh37
Build 361569,905,598 - 69,905,744RGDNCBI36
Celera1549,004,900 - 49,005,046RGD
Cytogenetic Map15q22-q23UniSTS
HuRef1548,949,015 - 48,949,161UniSTS
D15S1290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,329,393 - 72,329,538UniSTSGRCh37
Build 361570,116,447 - 70,116,592RGDNCBI36
Celera1549,215,711 - 49,215,856RGD
Cytogenetic Map15q22-q23UniSTS
HuRef1549,160,010 - 49,160,155UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
G32306  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,281,826 - 72,281,931UniSTSGRCh37
Celera1549,168,141 - 49,168,246UniSTS
Cytogenetic Map15q22-q23UniSTS
HuRef1549,112,443 - 49,112,548UniSTS
SHGC-58165  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q22-q23UniSTS
HuRef1549,095,591 - 49,095,854UniSTS
TNG Radiation Hybrid Map1527341.0UniSTS
D15S197  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q22-q23UniSTS
TNG Radiation Hybrid Map1527401.0UniSTS
Stanford-G3 RH Map152430.0UniSTS
GeneMap99-GB4 RH Map15253.26UniSTS
GeneMap99-G3 RH Map152425.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4921
Count of miRNA genes:1330
Interacting mature miRNAs:1734
Transcripts:ENST00000356056, ENST00000424560, ENST00000444904, ENST00000561618, ENST00000563071, ENST00000563542, ENST00000563648, ENST00000563925, ENST00000564571, ENST00000564699, ENST00000564931, ENST00000565528, ENST00000566744, ENST00000566885, ENST00000567095, ENST00000567560, ENST00000568042, ENST00000568438, ENST00000568481, ENST00000568781, ENST00000569314
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 435 374 266 5 260 8 836 376 622 139 632 364 2 30 781 1
Low 2003 2128 1409 567 1221 406 3519 1801 3101 280 827 1249 173 1 1174 2006 5 1
Below cutoff 1 489 51 52 470 51 2 20 11 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_006901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB290183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF117888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ001714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC060886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB140040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB085692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB100556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ088983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ088984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L29148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LS482395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000356056   ⟹   ENSP00000348349
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1571,822,291 - 72,118,150 (-)Ensembl
RefSeq Acc Id: ENST00000424560   ⟹   ENSP00000399162
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1571,958,517 - 72,118,081 (-)Ensembl
RefSeq Acc Id: ENST00000444904   ⟹   ENSP00000398250
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1571,826,580 - 72,117,712 (-)Ensembl
RefSeq Acc Id: ENST00000561618   ⟹   ENSP00000457945
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1571,825,992 - 71,898,838 (-)Ensembl
RefSeq Acc Id: ENST00000563071
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1571,883,701 - 71,888,607 (-)Ensembl
RefSeq Acc Id: ENST00000563542
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1571,889,472 - 72,046,636 (-)Ensembl
RefSeq Acc Id: ENST00000563648
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1571,935,140 - 71,959,955 (-)Ensembl
RefSeq Acc Id: ENST00000563925
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1571,951,732 - 71,960,403 (-)Ensembl
RefSeq Acc Id: ENST00000564571   ⟹   ENSP00000456192
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1571,826,272 - 72,117,768 (-)Ensembl
RefSeq Acc Id: ENST00000564699
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1571,830,206 - 71,852,356 (-)Ensembl
RefSeq Acc Id: ENST00000564931   ⟹   ENSP00000456882
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1572,046,344 - 72,118,577 (-)Ensembl
RefSeq Acc Id: ENST00000565528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1571,935,443 - 71,939,011 (-)Ensembl
RefSeq Acc Id: ENST00000566744
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1571,904,011 - 71,953,692 (-)Ensembl
RefSeq Acc Id: ENST00000566885   ⟹   ENSP00000454446
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1571,896,890 - 72,117,999 (-)Ensembl
RefSeq Acc Id: ENST00000567095
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1571,938,763 - 71,968,078 (-)Ensembl
RefSeq Acc Id: ENST00000567560
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1571,958,500 - 72,118,081 (-)Ensembl
RefSeq Acc Id: ENST00000568042   ⟹   ENSP00000457407
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1571,826,049 - 71,854,412 (-)Ensembl
RefSeq Acc Id: ENST00000568438   ⟹   ENSP00000457235
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1572,010,378 - 72,045,982 (-)Ensembl
RefSeq Acc Id: ENST00000568481   ⟹   ENSP00000455150
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1571,827,934 - 71,852,187 (-)Ensembl
RefSeq Acc Id: ENST00000568781
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1571,893,462 - 71,897,813 (-)Ensembl
RefSeq Acc Id: ENST00000569314   ⟹   ENSP00000454517
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1572,046,142 - 72,118,223 (-)Ensembl
RefSeq Acc Id: NM_006901   ⟹   NP_008832
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381571,822,291 - 72,118,150 (-)NCBI
GRCh371572,114,632 - 72,410,440 (-)NCBI
Build 361569,905,405 - 70,197,476 (-)NCBI Archive
Celera1549,004,720 - 49,296,754 (-)RGD
HuRef1548,948,830 - 49,240,766 (-)NCBI
CHM1_11572,236,489 - 72,528,413 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006720539   ⟹   XP_006720602
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381571,822,291 - 72,118,099 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521613   ⟹   XP_011519915
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381571,822,291 - 72,118,099 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521614   ⟹   XP_011519916
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381571,822,291 - 72,117,850 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521615   ⟹   XP_011519917
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381571,822,291 - 72,118,577 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521616   ⟹   XP_011519918
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381571,822,291 - 72,118,223 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521617   ⟹   XP_011519919
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381571,822,291 - 72,118,099 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521618   ⟹   XP_011519920
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381571,822,291 - 72,118,099 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521619   ⟹   XP_011519921
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381571,822,291 - 72,118,099 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521620   ⟹   XP_011519922
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381571,822,291 - 72,118,099 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521621   ⟹   XP_011519923
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381571,822,291 - 72,118,099 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521622   ⟹   XP_011519924
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381571,822,291 - 72,118,099 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521623   ⟹   XP_011519925
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381571,822,291 - 71,921,355 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022229   ⟹   XP_016877718
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381571,822,291 - 72,117,889 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022230   ⟹   XP_016877719
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381571,822,291 - 72,118,099 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_008832 (Get FASTA)   NCBI Sequence Viewer  
  XP_006720602 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519915 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519916 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519917 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519918 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519919 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519920 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519921 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519922 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519923 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519924 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519925 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877718 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877719 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA20911 (Get FASTA)   NCBI Sequence Viewer  
  AAD49195 (Get FASTA)   NCBI Sequence Viewer  
  AAH60886 (Get FASTA)   NCBI Sequence Viewer  
  AAI40870 (Get FASTA)   NCBI Sequence Viewer  
  AAZ85978 (Get FASTA)   NCBI Sequence Viewer  
  AAZ85979 (Get FASTA)   NCBI Sequence Viewer  
  B2RTY4 (Get FASTA)   NCBI Sequence Viewer  
  BAA91979 (Get FASTA)   NCBI Sequence Viewer  
  BAB14517 (Get FASTA)   NCBI Sequence Viewer  
  BAD93078 (Get FASTA)   NCBI Sequence Viewer  
  BAG06737 (Get FASTA)   NCBI Sequence Viewer  
  CAA04947 (Get FASTA)   NCBI Sequence Viewer  
  CAB70679 (Get FASTA)   NCBI Sequence Viewer  
  EAW77879 (Get FASTA)   NCBI Sequence Viewer  
  EAW77880 (Get FASTA)   NCBI Sequence Viewer  
  SPT35772 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_008832   ⟸   NM_006901
- UniProtKB: B2RTY4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006720602   ⟸   XM_006720539
- Peptide Label: isoform X4
- UniProtKB: B2RTY4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011519917   ⟸   XM_011521615
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011519918   ⟸   XM_011521616
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011519922   ⟸   XM_011521620
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011519921   ⟸   XM_011521619
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011519923   ⟸   XM_011521621
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011519924   ⟸   XM_011521622
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011519919   ⟸   XM_011521617
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011519920   ⟸   XM_011521618
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011519915   ⟸   XM_011521613
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011519916   ⟸   XM_011521614
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011519925   ⟸   XM_011521623
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016877719   ⟸   XM_017022230
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016877718   ⟸   XM_017022229
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: ENSP00000399162   ⟸   ENST00000424560
RefSeq Acc Id: ENSP00000457945   ⟸   ENST00000561618
RefSeq Acc Id: ENSP00000398250   ⟸   ENST00000444904
RefSeq Acc Id: ENSP00000456882   ⟸   ENST00000564931
RefSeq Acc Id: ENSP00000456192   ⟸   ENST00000564571
RefSeq Acc Id: ENSP00000454446   ⟸   ENST00000566885
RefSeq Acc Id: ENSP00000348349   ⟸   ENST00000356056
RefSeq Acc Id: ENSP00000457407   ⟸   ENST00000568042
RefSeq Acc Id: ENSP00000457235   ⟸   ENST00000568438
RefSeq Acc Id: ENSP00000455150   ⟸   ENST00000568481
RefSeq Acc Id: ENSP00000454517   ⟸   ENST00000569314
Promoters
RGD ID:6792470
Promoter ID:HG_KWN:21818
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:ENST00000261864,   NM_001172111,   NM_145204,   OTTHUMT00000257308,   UC002ATO.2,   UC010BIQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361570,196,926 - 70,197,877 (-)MPROMDB
RGD ID:7229991
Promoter ID:EPDNEW_H20741
Type:initiation region
Name:MYO9A_2
Description:myosin IXA
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20742  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381572,117,708 - 72,117,768EPDNEW
RGD ID:7229995
Promoter ID:EPDNEW_H20742
Type:initiation region
Name:MYO9A_1
Description:myosin IXA
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20741  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381572,118,150 - 72,118,210EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1 copy number loss See cases [RCV000050780] Chr15:68830574..73823337 [GRCh38]
Chr15:69122913..74115678 [GRCh37]
Chr15:66909967..71902731 [NCBI36]
Chr15:15q23-24.1
pathogenic
GRCh38/hg38 15q23-24.1(chr15:72058544-72481033)x3 copy number gain See cases [RCV000052106] Chr15:72058544..72481033 [GRCh38]
Chr15:72350885..72773374 [GRCh37]
Chr15:70137939..70560428 [NCBI36]
Chr15:15q23-24.1
uncertain significance
GRCh38/hg38 15q23-24.2(chr15:70788624-76057736)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|See cases [RCV000053219] Chr15:70788624..76057736 [GRCh38]
Chr15:71080963..76350077 [GRCh37]
Chr15:68868017..74137132 [NCBI36]
Chr15:15q23-24.2
pathogenic
NM_006901.3(MYO9A):c.6872G>T (p.Gly2291Val) single nucleotide variant Malignant melanoma [RCV000070876] Chr15:71830277 [GRCh38]
Chr15:72122618 [GRCh37]
Chr15:69909672 [NCBI36]
Chr15:15q23
not provided
NM_006901.3(MYO9A):c.5042+1193C>T single nucleotide variant Lung cancer [RCV000099645] Chr15:71896268 [GRCh38]
Chr15:72188609 [GRCh37]
Chr15:15q23
uncertain significance
NM_006901.3(MYO9A):c.1380+1267C>T single nucleotide variant Lung cancer [RCV000099646] Chr15:72006559 [GRCh38]
Chr15:72298900 [GRCh37]
Chr15:15q23
uncertain significance
NM_006901.4(MYO9A):c.6656G>A (p.Arg2219His) single nucleotide variant Bronchiectasis [RCV001292593] Chr15:71850093 [GRCh38]
Chr15:72142434 [GRCh37]
Chr15:15q23
uncertain significance
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1 copy number loss See cases [RCV000141666] Chr15:70025300..78705993 [GRCh38]
Chr15:70317639..78998335 [GRCh37]
Chr15:68104693..76785390 [NCBI36]
Chr15:15q23-25.1
pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3
pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3
pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3
likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
NM_006901.4(MYO9A):c.608A>G (p.Tyr203Cys) single nucleotide variant Flexion contracture [RCV001007781]|Myasthenic syndrome, congenital, 24, presynaptic [RCV000722149]|not provided [RCV000995383] Chr15:72045956 [GRCh38]
Chr15:72338297 [GRCh37]
Chr15:15q23
pathogenic|uncertain significance
MYO9A, ARG2283HIS (rs142345927) variation MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC [RCV000722151] Chr15:15q23 pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3
pathogenic
NM_006901.4(MYO9A):c.1016A>G (p.Tyr339Cys) single nucleotide variant Presynaptic congenital myasthenic syndrome [RCV000710028] Chr15:72021000 [GRCh38]
Chr15:72313341 [GRCh37]
Chr15:15q23
uncertain significance
NM_006901.4(MYO9A):c.6845G>A (p.Gly2282Glu) single nucleotide variant Flexion contracture [RCV001007780]|Myasthenic syndrome, congenital, 24, presynaptic [RCV000722148] Chr15:71830304 [GRCh38]
Chr15:72122645 [GRCh37]
Chr15:15q23
pathogenic|uncertain significance
NM_006901.4(MYO9A):c.5093A>G (p.Asp1698Gly) single nucleotide variant Myasthenic syndrome, congenital, 24, presynaptic [RCV000722152] Chr15:71893728 [GRCh38]
Chr15:72186069 [GRCh37]
Chr15:15q23
pathogenic
NM_006901.4(MYO9A):c.4550G>A (p.Arg1517His) single nucleotide variant Myasthenic syndrome, congenital, 24, presynaptic [RCV000722150] Chr15:71897953 [GRCh38]
Chr15:72190294 [GRCh37]
Chr15:15q23
pathogenic
GRCh37/hg19 15q23(chr15:72365112-72388067)x0 copy number loss not provided [RCV000738815] Chr15:72365112..72388067 [GRCh37]
Chr15:15q23
benign
GRCh37/hg19 15q23(chr15:72368847-72386705)x1 copy number loss not provided [RCV000738816] Chr15:72368847..72386705 [GRCh37]
Chr15:15q23
benign
GRCh37/hg19 15q23(chr15:72376543-72388067)x0 copy number loss not provided [RCV000738817] Chr15:72376543..72388067 [GRCh37]
Chr15:15q23
benign
GRCh37/hg19 15q23(chr15:72383823-72388067)x0 copy number loss not provided [RCV000738818] Chr15:72383823..72388067 [GRCh37]
Chr15:15q23
benign
GRCh37/hg19 15q23(chr15:72384483-72388067)x0 copy number loss not provided [RCV000751334] Chr15:72384483..72388067 [GRCh37]
Chr15:15q23
benign
GRCh37/hg19 15q23(chr15:72386347-72386705)x0 copy number loss not provided [RCV000751335] Chr15:72386347..72386705 [GRCh37]
Chr15:15q23
benign
GRCh37/hg19 15q23(chr15:72386347-72388067)x0 copy number loss not provided [RCV000751336] Chr15:72386347..72388067 [GRCh37]
Chr15:15q23
benign
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_000540.3(RYR1):c.7035C>A (p.Ser2345Arg) single nucleotide variant Myasthenic syndrome, congenital, 24, presynaptic [RCV001591707] Chr15:71991167 [GRCh38]
Chr15:72283508 [GRCh37]
Chr15:15q23
uncertain significance
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001679122] Chr15:72008130 [GRCh38]
Chr15:72300471 [GRCh37]
Chr15:15q23
benign
NM_006901.4(MYO9A):c.219A>G (p.Glu73=) single nucleotide variant not provided [RCV000940004] Chr15:72046345 [GRCh38]
Chr15:72338686 [GRCh37]
Chr15:15q23
likely benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001680925] Chr15:71899060 [GRCh38]
Chr15:72191401 [GRCh37]
Chr15:15q23
benign
null single nucleotide variant not provided [RCV001610934] Chr15:71935496 [GRCh38]
Chr15:72227837 [GRCh37]
Chr15:15q23
benign
null deletion not provided [RCV001693369] Chr15:71849691..71849714 [GRCh38]
Chr15:72142032..72142055 [GRCh37]
Chr15:15q23
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001680858] Chr15:71827228 [GRCh38]
Chr15:72119569 [GRCh37]
Chr15:15q23
benign
NM_006901.4(MYO9A):c.6879G>A (p.Ser2293=) single nucleotide variant not provided [RCV000904938] Chr15:71830270 [GRCh38]
Chr15:72122611 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.5979+9T>C single nucleotide variant not provided [RCV000945259] Chr15:71875782 [GRCh38]
Chr15:72168123 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.762C>T (p.His254=) single nucleotide variant not provided [RCV000959146] Chr15:72045802 [GRCh38]
Chr15:72338143 [GRCh37]
Chr15:15q23
benign
NM_006901.4(MYO9A):c.482C>T (p.Thr161Ile) single nucleotide variant not provided [RCV000959222] Chr15:72046082 [GRCh38]
Chr15:72338423 [GRCh37]
Chr15:15q23
benign
NM_006901.4(MYO9A):c.6454G>A (p.Glu2152Lys) single nucleotide variant not provided [RCV000968308] Chr15:71852153 [GRCh38]
Chr15:72144494 [GRCh37]
Chr15:15q23
likely benign|conflicting interpretations of pathogenicity
NM_006901.4(MYO9A):c.183T>C (p.Tyr61=) single nucleotide variant not provided [RCV000881931] Chr15:72046381 [GRCh38]
Chr15:72338722 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.1986+3C>A single nucleotide variant not provided [RCV000879462] Chr15:71967981 [GRCh38]
Chr15:72260322 [GRCh37]
Chr15:15q23
benign
NM_006901.4(MYO9A):c.6336T>A (p.Gly2112=) single nucleotide variant not provided [RCV000882865] Chr15:71854387 [GRCh38]
Chr15:72146728 [GRCh37]
Chr15:15q23
benign
NM_006901.4(MYO9A):c.3423A>G (p.Lys1141=) single nucleotide variant not provided [RCV000983000] Chr15:71899734 [GRCh38]
Chr15:72192075 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.3199G>A (p.Val1067Met) single nucleotide variant not provided [RCV000881397] Chr15:71899958 [GRCh38]
Chr15:72192299 [GRCh37]
Chr15:15q23
benign
NM_006901.4(MYO9A):c.6532T>A (p.Ser2178Thr) single nucleotide variant not provided [RCV000906867] Chr15:71851302 [GRCh38]
Chr15:72143643 [GRCh37]
Chr15:15q23
benign
NM_006901.4(MYO9A):c.6375T>C (p.Tyr2125=) single nucleotide variant not provided [RCV000929410] Chr15:71852232 [GRCh38]
Chr15:72144573 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.3791A>C (p.Gln1264Pro) single nucleotide variant not provided [RCV000903213] Chr15:71898712 [GRCh38]
Chr15:72191053 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.4608A>G (p.Pro1536=) single nucleotide variant not provided [RCV000995381] Chr15:71897895 [GRCh38]
Chr15:72190236 [GRCh37]
Chr15:15q23
uncertain significance
NM_006901.4(MYO9A):c.4731A>T (p.Leu1577=) single nucleotide variant not provided [RCV000995380] Chr15:71897772 [GRCh38]
Chr15:72190113 [GRCh37]
Chr15:15q23
uncertain significance
NM_006901.4(MYO9A):c.6271C>T (p.Leu2091=) single nucleotide variant not provided [RCV000995379] Chr15:71854452 [GRCh38]
Chr15:72146793 [GRCh37]
Chr15:15q23
uncertain significance
NM_006901.4(MYO9A):c.6918C>A (p.Val2306=) single nucleotide variant not provided [RCV000910175] Chr15:71830231 [GRCh38]
Chr15:72122572 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.6426C>G (p.Pro2142=) single nucleotide variant not provided [RCV000886238] Chr15:71852181 [GRCh38]
Chr15:72144522 [GRCh37]
Chr15:15q23
benign
NM_006901.4(MYO9A):c.4389T>C (p.Thr1463=) single nucleotide variant not provided [RCV000920768] Chr15:71898114 [GRCh38]
Chr15:72190455 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.3257G>A (p.Arg1086His) single nucleotide variant not provided [RCV000971042] Chr15:71899900 [GRCh38]
Chr15:72192241 [GRCh37]
Chr15:15q23
likely benign|conflicting interpretations of pathogenicity
NM_006901.4(MYO9A):c.2303G>A (p.Ser768Asn) single nucleotide variant not provided [RCV000908654] Chr15:71938927 [GRCh38]
Chr15:72231268 [GRCh37]
Chr15:15q23
benign
NM_006901.4(MYO9A):c.150A>C (p.Ile50=) single nucleotide variant not provided [RCV000959223] Chr15:72046414 [GRCh38]
Chr15:72338755 [GRCh37]
Chr15:15q23
benign
NM_006901.4(MYO9A):c.1209A>G (p.Gln403=) single nucleotide variant not provided [RCV000924345] Chr15:72010394 [GRCh38]
Chr15:72302735 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.5352A>T (p.Pro1784=) single nucleotide variant not provided [RCV000980392] Chr15:71883640 [GRCh38]
Chr15:72175981 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.4836C>T (p.Cys1612=) single nucleotide variant not provided [RCV000973099] Chr15:71897667 [GRCh38]
Chr15:72190008 [GRCh37]
Chr15:15q23
benign|likely benign
NM_006901.4(MYO9A):c.1515C>A (p.Ala505=) single nucleotide variant not provided [RCV000896791] Chr15:71994541 [GRCh38]
Chr15:72286882 [GRCh37]
Chr15:15q23
benign
NM_006901.4(MYO9A):c.2751C>T (p.Arg917=) single nucleotide variant not provided [RCV000917368] Chr15:71904941 [GRCh38]
Chr15:72197282 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.5300G>A (p.Gly1767Glu) single nucleotide variant not provided [RCV000883423] Chr15:71883692 [GRCh38]
Chr15:72176033 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.384A>G (p.Thr128=) single nucleotide variant not provided [RCV000940003] Chr15:72046180 [GRCh38]
Chr15:72338521 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.5757C>T (p.Ser1919=) single nucleotide variant not provided [RCV000937232] Chr15:71878214 [GRCh38]
Chr15:72170555 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.1845-8T>A single nucleotide variant not provided [RCV000936239] Chr15:71968133 [GRCh38]
Chr15:72260474 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.5191A>T (p.Thr1731Ser) single nucleotide variant not provided [RCV001091354] Chr15:71888068 [GRCh38]
Chr15:72180409 [GRCh37]
Chr15:15q23
uncertain significance
GRCh37/hg19 15q23(chr15:72194247-72249034)x1 copy number loss not provided [RCV000847432] Chr15:72194247..72249034 [GRCh37]
Chr15:15q23
pathogenic
NM_006901.4(MYO9A):c.4310C>T (p.Thr1437Ile) single nucleotide variant not provided [RCV000897445] Chr15:71898193 [GRCh38]
Chr15:72190534 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.3477A>G (p.Lys1159=) single nucleotide variant not provided [RCV000980086] Chr15:71899026 [GRCh38]
Chr15:72191367 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.6546C>T (p.Leu2182=) single nucleotide variant not provided [RCV000981194] Chr15:71851288 [GRCh38]
Chr15:72143629 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.2221A>G (p.Met741Val) single nucleotide variant not provided [RCV000893825] Chr15:71951858 [GRCh38]
Chr15:72244199 [GRCh37]
Chr15:15q23
benign
NM_006901.4(MYO9A):c.359G>A (p.Ser120Asn) single nucleotide variant not provided [RCV001091355] Chr15:72046205 [GRCh38]
Chr15:72338546 [GRCh37]
Chr15:15q23
uncertain significance
NM_006901.4(MYO9A):c.3429C>T (p.Ile1143=) single nucleotide variant not provided [RCV000995382] Chr15:71899728 [GRCh38]
Chr15:72192069 [GRCh37]
Chr15:15q23
uncertain significance
GRCh37/hg19 15q23(chr15:72373639-72577870)x1 copy number loss not provided [RCV000845814] Chr15:72373639..72577870 [GRCh37]
Chr15:15q23
uncertain significance
null single nucleotide variant not provided [RCV001695362] Chr15:71852356 [GRCh38]
Chr15:72144697 [GRCh37]
Chr15:15q23
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001683992] Chr15:71851514 [GRCh38]
Chr15:72143855 [GRCh37]
Chr15:15q23
benign
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, deletion not provided [RCV001638633] Chr15:71900067..71900068 [GRCh38]
Chr15:72192408..72192409 [GRCh37]
Chr15:15q23
benign
null single nucleotide variant not provided [RCV001617841] Chr15:71826436 [GRCh38]
Chr15:72118777 [GRCh37]
Chr15:15q23
benign
NM_006901.4(MYO9A):c.1156-219C>G single nucleotide variant not provided [RCV001533932] Chr15:72010666 [GRCh38]
Chr15:72303007 [GRCh37]
Chr15:15q23
benign
null deletion not provided [RCV001695956] Chr15:71859884 [GRCh38]
Chr15:72152225 [GRCh37]
Chr15:15q23
benign
null duplication not provided [RCV001708898] Chr15:71862929..71862930 [GRCh38]
Chr15:72155270..72155271 [GRCh37]
Chr15:15q23
benign
null single nucleotide variant not provided [RCV001615729] Chr15:71893945 [GRCh38]
Chr15:72186286 [GRCh37]
Chr15:15q23
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001688984] Chr15:71897265 [GRCh38]
Chr15:72189606 [GRCh37]
Chr15:15q23
benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001716336] Chr15:72010326 [GRCh38]
Chr15:72302667 [GRCh37]
Chr15:15q23
benign
null single nucleotide variant not provided [RCV001696305] Chr15:71878258 [GRCh38]
Chr15:72170599 [GRCh37]
Chr15:15q23
benign
null single nucleotide variant not provided [RCV001670646] Chr15:72007641 [GRCh38]
Chr15:72299982 [GRCh37]
Chr15:15q23
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001653320] Chr15:72032634 [GRCh38]
Chr15:72324975 [GRCh37]
Chr15:15q23
benign
null duplication not provided [RCV001694849] Chr15:71952191..71952192 [GRCh38]
Chr15:72244532..72244533 [GRCh37]
Chr15:15q23
benign
null single nucleotide variant not provided [RCV001694850] Chr15:72007690 [GRCh38]
Chr15:72300031 [GRCh37]
Chr15:15q23
benign
null single nucleotide variant not provided [RCV001617049] Chr15:71880751 [GRCh38]
Chr15:72173092 [GRCh37]
Chr15:15q23
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001653437] Chr15:71827082 [GRCh38]
Chr15:72119423 [GRCh37]
Chr15:15q23
benign
NM_006901.4(MYO9A):c.6330G>A (p.Arg2110=) single nucleotide variant not provided [RCV000921580] Chr15:71854393 [GRCh38]
Chr15:72146734 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.2817C>T (p.Thr939=) single nucleotide variant not provided [RCV000932297] Chr15:71903989 [GRCh38]
Chr15:72196330 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.6848G>A (p.Arg2283His) single nucleotide variant Myasthenic syndrome, congenital, 24, presynaptic [RCV000722151]|not provided [RCV000974632] Chr15:71830301 [GRCh38]
Chr15:72122642 [GRCh37]
Chr15:15q23
pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_006901.4(MYO9A):c.2183-10G>T single nucleotide variant not provided [RCV000974633] Chr15:71951906 [GRCh38]
Chr15:72244247 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.5834T>C (p.Leu1945Pro) single nucleotide variant not provided [RCV000980275] Chr15:71878137 [GRCh38]
Chr15:72170478 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.5104T>C (p.Trp1702Arg) single nucleotide variant not provided [RCV000879116] Chr15:71893717 [GRCh38]
Chr15:72186058 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.843C>A (p.Ala281=) single nucleotide variant not provided [RCV000916757] Chr15:72032586 [GRCh38]
Chr15:72324927 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.1574A>T (p.Glu525Val) single nucleotide variant not provided [RCV000892554] Chr15:71994482 [GRCh38]
Chr15:72286823 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.6018A>G (p.Gln2006=) single nucleotide variant not provided [RCV000930634] Chr15:71862573 [GRCh38]
Chr15:72154914 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.3292C>A (p.Arg1098=) single nucleotide variant not provided [RCV000931259] Chr15:71899865 [GRCh38]
Chr15:72192206 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.7485G>A (p.Pro2495=) single nucleotide variant not provided [RCV000907398] Chr15:71826742 [GRCh38]
Chr15:72119083 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.5043-1G>A single nucleotide variant not provided [RCV000908142] Chr15:71893779 [GRCh38]
Chr15:72186120 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.2787T>C (p.Asp929=) single nucleotide variant not provided [RCV000901912] Chr15:71904019 [GRCh38]
Chr15:72196360 [GRCh37]
Chr15:15q23
benign
NM_006901.4(MYO9A):c.1987-6A>G single nucleotide variant not provided [RCV000952739] Chr15:71960102 [GRCh38]
Chr15:72252443 [GRCh37]
Chr15:15q23
likely benign|conflicting interpretations of pathogenicity
NM_006901.4(MYO9A):c.4427C>G (p.Pro1476Arg) single nucleotide variant not provided [RCV000955016] Chr15:71898076 [GRCh38]
Chr15:72190417 [GRCh37]
Chr15:15q23
benign
NM_006901.4(MYO9A):c.4535T>C (p.Met1512Thr) single nucleotide variant not provided [RCV000955492] Chr15:71897968 [GRCh38]
Chr15:72190309 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.831A>G (p.Pro277=) single nucleotide variant not provided [RCV000955493] Chr15:72045733 [GRCh38]
Chr15:72338074 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.7511A>C (p.Asn2504Thr) single nucleotide variant not provided [RCV000957314] Chr15:71826716 [GRCh38]
Chr15:72119057 [GRCh37]
Chr15:15q23
benign
NM_006901.4(MYO9A):c.5520T>C (p.Ile1840=) single nucleotide variant not provided [RCV000957316] Chr15:71880437 [GRCh38]
Chr15:72172778 [GRCh37]
Chr15:15q23
benign
NM_006901.4(MYO9A):c.2904T>A (p.Leu968=) single nucleotide variant not provided [RCV000957318] Chr15:71903037 [GRCh38]
Chr15:72195378 [GRCh37]
Chr15:15q23
benign
NM_006901.4(MYO9A):c.6774C>A (p.Ile2258=) single nucleotide variant not provided [RCV000890144] Chr15:71848908 [GRCh38]
Chr15:72141249 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.3658C>T (p.Arg1220Cys) single nucleotide variant not provided [RCV000933590] Chr15:71898845 [GRCh38]
Chr15:72191186 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.2661T>C (p.Pro887=) single nucleotide variant not provided [RCV000911277] Chr15:71916394 [GRCh38]
Chr15:72208735 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.7150A>G (p.Met2384Val) single nucleotide variant not provided [RCV000935031] Chr15:71827917 [GRCh38]
Chr15:72120258 [GRCh37]
Chr15:15q23
likely benign
NM_006901.4(MYO9A):c.5553A>G (p.Gln1851=) single nucleotide variant not provided [RCV000957315] Chr15:71880404 [GRCh38]
Chr15:72172745 [GRCh37]
Chr15:15q23
benign
NM_006901.4(MYO9A):c.5383C>T (p.His1795Tyr) single nucleotide variant not provided [RCV000957317] Chr15:71883609 [GRCh38]
Chr15:72175950 [GRCh37]
Chr15:15q23
benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant not provided [RCV001676837] Chr15:71960157 [GRCh38]
Chr15:72252498 [GRCh37]
Chr15:15q23
benign
null single nucleotide variant not provided [RCV001595371] Chr15:71878345 [GRCh38]
Chr15:72170686 [GRCh37]
Chr15:15q23
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) deletion not provided [RCV001649203] Chr15:71959849 [GRCh38]
Chr15:72252190 [GRCh37]
Chr15:15q23
benign
null single nucleotide variant not provided [RCV001594485] Chr15:71898732 [GRCh38]
Chr15:72191073 [GRCh37]
Chr15:15q23
benign
null deletion not provided [RCV001675024] Chr15:71883937..71883941 [GRCh38]
Chr15:72176278..72176282 [GRCh37]
Chr15:15q23
benign
NM_201384.3(PLEC):c.1956C>T (p.Thr652=) deletion not provided [RCV001720776] Chr15:71852363 [GRCh38]
Chr15:72144704 [GRCh37]
Chr15:15q23
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) duplication not provided [RCV001688369] Chr15:71959848..71959849 [GRCh38]
Chr15:72252189..72252190 [GRCh37]
Chr15:15q23
benign
null duplication not provided [RCV001637280] Chr15:71959848..71959849 [GRCh38]
Chr15:72252189..72252190 [GRCh37]
Chr15:15q23
benign
null single nucleotide variant not provided [RCV001696318] Chr15:71862727 [GRCh38]
Chr15:72155068 [GRCh37]
Chr15:15q23
benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant not provided [RCV001678150] Chr15:71900896 [GRCh38]
Chr15:72193237 [GRCh37]
Chr15:15q23
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001660884] Chr15:71827899 [GRCh38]
Chr15:72120240 [GRCh37]
Chr15:15q23
benign
NM_201384.3(PLEC):c.7029G>A (p.Ala2343=) deletion not provided [RCV001721772] Chr15:71862930 [GRCh38]
Chr15:72155271 [GRCh37]
Chr15:15q23
benign
null single nucleotide variant not provided [RCV001620859] Chr15:71935130 [GRCh38]
Chr15:72227471 [GRCh37]
Chr15:15q23
benign
NM_000085.5(CLCNKB):c.101-50G>C duplication not provided [RCV001687746] Chr15:71849939..71849940 [GRCh38]
Chr15:72142280..72142281 [GRCh37]
Chr15:15q23
benign
NM_000321.3(RB1):c.1961-12T>C duplication Myasthenic syndrome, congenital, 24, presynaptic [RCV001724245]|not provided [RCV001091353] Chr15:71851360..71851361 [GRCh38]
Chr15:72143701..72143702 [GRCh37]
Chr15:15q23
uncertain significance
NM_000085.5(CLCNKB):c.101-50G>C microsatellite not provided [RCV001680773] Chr15:71899359..71899363 [GRCh38]
Chr15:72191700..72191704 [GRCh37]
Chr15:15q23
benign
null single nucleotide variant not provided [RCV001667672] Chr15:71898769 [GRCh38]
Chr15:72191110 [GRCh37]
Chr15:15q23
benign
NM_016343.4(CENPF):c.3244C>T (p.His1082Tyr) single nucleotide variant not provided [RCV001641243] Chr15:71999774 [GRCh38]
Chr15:72292115 [GRCh37]
Chr15:15q23
benign
null single nucleotide variant not provided [RCV001610193] Chr15:71901416 [GRCh38]
Chr15:72193757 [GRCh37]
Chr15:15q23
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001685207] Chr15:71900238 [GRCh38]
Chr15:72192579 [GRCh37]
Chr15:15q23
benign
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) insertion not provided [RCV001643779] Chr15:71960374..71960375 [GRCh38]
Chr15:72252715..72252716 [GRCh37]
Chr15:15q23
benign
GRCh37/hg19 15q23-24.1(chr15:70268937-74098081)x1 copy number loss not provided [RCV001259707] Chr15:70268937..74098081 [GRCh37]
Chr15:15q23-24.1
likely pathogenic
null single nucleotide variant not provided [RCV001663161] Chr15:71880542 [GRCh38]
Chr15:72172883 [GRCh37]
Chr15:15q23
benign
NM_016343.4(CENPF):c.3244C>T (p.His1082Tyr) deletion not provided [RCV001641143] Chr15:71849101..71849105 [GRCh38]
Chr15:72141442..72141446 [GRCh37]
Chr15:15q23
benign
NM_006901.4(MYO9A):c.5350C>T (p.Pro1784Ser) single nucleotide variant Myasthenic syndrome, congenital, 24, presynaptic [RCV001332849] Chr15:71883642 [GRCh38]
Chr15:72175983 [GRCh37]
Chr15:15q23
uncertain significance
NM_006901.4(MYO9A):c.6154-5T>A single nucleotide variant not provided [RCV001540076] Chr15:71854574 [GRCh38]
Chr15:72146915 [GRCh37]
Chr15:15q23
benign
NM_016343.4(CENPF):c.3244C>T (p.His1082Tyr) deletion not provided [RCV001642163] Chr15:71951441 [GRCh38]
Chr15:72243782 [GRCh37]
Chr15:15q23
benign
NM_006901.4(MYO9A):c.2344C>A (p.Gln782Lys) single nucleotide variant Bronchiectasis [RCV001292594] Chr15:71938886 [GRCh38]
Chr15:72231227 [GRCh37]
Chr15:15q23
uncertain significance
NM_006901.4(MYO9A):c.3071T>C (p.Ile1024Thr) single nucleotide variant Myasthenic syndrome, congenital, 24, presynaptic [RCV001332847] Chr15:71901270 [GRCh38]
Chr15:72193611 [GRCh37]
Chr15:15q23
uncertain significance
NM_006901.4(MYO9A):c.5807C>T (p.Thr1936Met) single nucleotide variant Myasthenic syndrome, congenital, 24, presynaptic [RCV001332850] Chr15:71878164 [GRCh38]
Chr15:72170505 [GRCh37]
Chr15:15q23
uncertain significance
NM_006901.4(MYO9A):c.1573G>A (p.Glu525Lys) single nucleotide variant Myasthenic syndrome, congenital, 24, presynaptic [RCV001332846] Chr15:71994483 [GRCh38]
Chr15:72286824 [GRCh37]
Chr15:15q23
uncertain significance
NM_006901.4(MYO9A):c.5110C>T (p.Pro1704Ser) single nucleotide variant Myasthenic syndrome, congenital, 24, presynaptic [RCV001332848] Chr15:71893711 [GRCh38]
Chr15:72186052 [GRCh37]
Chr15:15q23
uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1
uncertain significance
NM_006901.4(MYO9A):c.6939T>G (p.Ser2313Arg) single nucleotide variant not provided [RCV001354420] Chr15:71830210 [GRCh38]
Chr15:72122551 [GRCh37]
Chr15:15q23
uncertain significance
NM_006901.4(MYO9A):c.6931T>G (p.Leu2311Val) single nucleotide variant not provided [RCV001355612] Chr15:71830218 [GRCh38]
Chr15:72122559 [GRCh37]
Chr15:15q23
uncertain significance
NM_006901.4(MYO9A):c.3326G>A (p.Arg1109Lys) single nucleotide variant not provided [RCV001358052] Chr15:71899831 [GRCh38]
Chr15:72192172 [GRCh37]
Chr15:15q23
likely benign
null single nucleotide variant not provided [RCV001675346] Chr15:71849304 [GRCh38]
Chr15:72141645 [GRCh37]
Chr15:15q23
benign
null single nucleotide variant not provided [RCV001666504] Chr15:71880174 [GRCh38]
Chr15:72172515 [GRCh37]
Chr15:15q23
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001686773] Chr15:71897611 [GRCh38]
Chr15:72189952 [GRCh37]
Chr15:15q23
benign
NM_201384.3(PLEC):c.12027C>T (p.Arg4009=) single nucleotide variant not provided [RCV001698836] Chr15:71883981 [GRCh38]
Chr15:72176322 [GRCh37]
Chr15:15q23
benign
null single nucleotide variant not provided [RCV001611236] Chr15:71898925 [GRCh38]
Chr15:72191266 [GRCh37]
Chr15:15q23
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001646014] Chr15:72010553 [GRCh38]
Chr15:72302894 [GRCh37]
Chr15:15q23
benign
null single nucleotide variant not provided [RCV001695869] Chr15:71850200 [GRCh38]
Chr15:72142541 [GRCh37]
Chr15:15q23
benign
null single nucleotide variant not provided [RCV001618150] Chr15:71933937 [GRCh38]
Chr15:72226278 [GRCh37]
Chr15:15q23
benign
null duplication not provided [RCV001674286] Chr15:71852362..71852363 [GRCh38]
Chr15:72144703..72144704 [GRCh37]
Chr15:15q23
benign
null single nucleotide variant not provided [RCV001674691] Chr15:71878421 [GRCh38]
Chr15:72170762 [GRCh37]
Chr15:15q23
benign
NM_006901.4(MYO9A):c.5399-87G>A single nucleotide variant not provided [RCV001538343] Chr15:71880645 [GRCh38]
Chr15:72172986 [GRCh37]
Chr15:15q23
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7608 AgrOrtholog
COSMIC MYO9A COSMIC
Ensembl Genes ENSG00000066933 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000348349 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000398250 UniProtKB/Swiss-Prot
  ENSP00000399162 UniProtKB/Swiss-Prot
  ENSP00000454446 UniProtKB/TrEMBL
  ENSP00000454517 UniProtKB/TrEMBL
  ENSP00000455150 UniProtKB/TrEMBL
  ENSP00000456192 UniProtKB/TrEMBL
  ENSP00000456882 UniProtKB/TrEMBL
  ENSP00000457235 UniProtKB/TrEMBL
  ENSP00000457407 UniProtKB/TrEMBL
  ENSP00000457945 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000356056 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000424560 UniProtKB/Swiss-Prot
  ENST00000444904 UniProtKB/Swiss-Prot
  ENST00000561618 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000564571 UniProtKB/TrEMBL
  ENST00000564931 UniProtKB/TrEMBL
  ENST00000566885 UniProtKB/TrEMBL
  ENST00000568042 UniProtKB/TrEMBL
  ENST00000568438 UniProtKB/TrEMBL
  ENST00000568481 UniProtKB/TrEMBL
  ENST00000569314 UniProtKB/TrEMBL
Gene3D-CATH 1.10.555.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.850.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000066933 GTEx
HGNC ID HGNC:7608 ENTREZGENE
Human Proteome Map MYO9A Human Proteome Map
InterPro IQ_motif_EF-hand-BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinesin_motor_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MYO9A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myosin_head_motor_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MYSc_Myo9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PE/DAG-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RA_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rho_GTPase_activation_prot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4649 UniProtKB/Swiss-Prot
NCBI Gene 4649 ENTREZGENE
OMIM 604875 OMIM
  618198 OMIM
PANTHER PTHR46184:SF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Myosin_head UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00612 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00788 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31413 PharmGKB
PRINTS MYOSINHEAVY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE MYOSIN_MOTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50096 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHOGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_DAG_PE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_DAG_PE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART MYSc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00015 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00109 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00314 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54236 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2X0SFG5_HUMAN UniProtKB/TrEMBL
  B2RTY4 ENTREZGENE
  H3BMM1_HUMAN UniProtKB/TrEMBL
  H3BMS3_HUMAN UniProtKB/TrEMBL
  H3BP49_HUMAN UniProtKB/TrEMBL
  H3BRD5_HUMAN UniProtKB/TrEMBL
  H3BSU8_HUMAN UniProtKB/TrEMBL
  H3BTL9_HUMAN UniProtKB/TrEMBL
  H3BU05_HUMAN UniProtKB/TrEMBL
  H3BV44_HUMAN UniProtKB/TrEMBL
  MYO9A_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B0I1T5 UniProtKB/Swiss-Prot
  C9IYB3 UniProtKB/Swiss-Prot
  C9JA86 UniProtKB/Swiss-Prot
  Q14787 UniProtKB/Swiss-Prot
  Q3YLD7 UniProtKB/Swiss-Prot
  Q3YLD8 UniProtKB/Swiss-Prot
  Q6P986 UniProtKB/Swiss-Prot
  Q9H8T5 UniProtKB/Swiss-Prot
  Q9NTG2 UniProtKB/Swiss-Prot
  Q9NUY2 UniProtKB/Swiss-Prot
  Q9UEP3 UniProtKB/Swiss-Prot
  Q9UNJ2 UniProtKB/Swiss-Prot