MYH9 (myosin heavy chain 9) - Rat Genome Database

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Gene: MYH9 (myosin heavy chain 9) Homo sapiens
Analyze
Symbol: MYH9
Name: myosin heavy chain 9
RGD ID: 732401
HGNC Page HGNC:7579
Description: Enables several functions, including adenyl ribonucleotide binding activity; integrin binding activity; and protein homodimerization activity. Contributes to actin filament binding activity and microfilament motor activity. Involved in several processes, including actin cytoskeleton organization; myeloid cell differentiation; and negative regulation of actin filament severing. Acts upstream of or within actin filament-based movement. Located in several cellular components, including actin cytoskeleton; immunological synapse; and myosin II filament. Part of myosin II complex. Colocalizes with COP9 signalosome. Implicated in several diseases, including auditory system disease (multiple); autosomal dominant Alport syndrome; blood platelet disease (multiple); end stage renal disease; and orofacial cleft. Biomarker of MYH-9 related disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BDPLT6; cellular myosin heavy chain, type A; DFNA17; EPSTS; FTNS; MATINS; MGC104539; MHA; MYH9 variant protein; myosin heavy chain, non-muscle IIa; myosin, heavy chain 9, non-muscle; myosin, heavy polypeptide 9; myosin-9; NMHC-II-A; NMMHC II-a; NMMHC-A; NMMHC-IIA; NMMHCA; non-muscle myosin heavy chain 9; non-muscle myosin heavy chain A; non-muscle myosin heavy chain IIa; non-muscle myosin heavy polypeptide 9; nonmuscle myosin heavy chain II-A
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
GRCh382236,281,280 - 36,387,967 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2236,281,280 - 36,388,010 (-)EnsemblGRCh38hg38GRCh38
GRCh372236,677,326 - 36,784,012 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362235,007,272 - 35,113,927 (-)NCBINCBI36Build 36hg18NCBI36
Build 342235,001,826 - 35,108,481NCBI
Celera2220,479,895 - 20,586,681 (-)NCBICelera
Cytogenetic Map22q12.3NCBI
HuRef2219,645,404 - 19,752,216 (-)NCBIHuRef
CHM1_12236,636,447 - 36,743,196 (-)NCBICHM1_1
T2T-CHM13v2.02236,741,430 - 36,848,142 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
17beta-estradiol 3-benzoate  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
2-methylcholine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
7,12-dimethyltetraphene  (ISO)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP,ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
blebbistatin  (ISO)
Brodifacoum  (ISO)
bucladesine  (EXP)
buspirone  (ISO)
butan-1-ol  (EXP)
butanal  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP)
caffeine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloromethylisothiazolinone  (EXP)
chloropicrin  (EXP)
choline  (ISO)
chromium(6+)  (EXP)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
cobalt dichloride  (EXP)
cocaine  (ISO)
coumarin  (EXP)
crocidolite asbestos  (EXP)
CU-O LINKAGE  (EXP)
cyclosporin A  (EXP)
deoxynivalenol  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
entinostat  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenamidone  (ISO)
fenthion  (ISO)
folic acid  (ISO)
fructose  (ISO)
fumonisin B1  (ISO)
genistein  (EXP)
glafenine  (ISO)
hypochlorous acid  (ISO)
inulin  (ISO)
isobutanol  (EXP)
isoflavones  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
lipopolysaccharide  (EXP)
medroxyprogesterone acetate  (EXP)
methidathion  (ISO)
methylmercury chloride  (EXP)
miconazole  (ISO)
Monobutylphthalate  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
pirinixic acid  (ISO)
propanal  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
rotenone  (ISO)
selenium atom  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (ISO)
Soman  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
tetrachloromethane  (ISO)
thiophenes  (EXP)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
troglitazone  (ISO)
tungsten  (ISO)
urethane  (EXP)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
actin cytoskeleton reorganization  (IMP,ISO)
actin filament bundle assembly  (ISO)
actin filament bundle distribution  (ISO)
actin filament capping  (ISO)
actin filament polymerization  (ISO)
actin filament-based movement  (IDA)
actomyosin structure organization  (IDA)
angiogenesis  (IDA)
blood vessel endothelial cell migration  (IMP)
cell adhesion  (IEA,ISO)
cell morphogenesis involved in differentiation  (IEA,ISO)
cell-cell adhesion  (IEA,ISO)
cellular response to mechanical stimulus  (ISO)
cellular response to platelet-derived growth factor stimulus  (ISO)
cortical granule exocytosis  (IEA,ISS)
cytokinetic process  (IMP)
establishment of meiotic spindle localization  (IEA,ISO)
establishment of T cell polarity  (IEA,ISO)
follicle-stimulating hormone signaling pathway  (ISO)
in utero embryonic development  (IEA,ISO)
integrin-mediated signaling pathway  (NAS)
leukocyte migration  (NAS)
lysosome localization  (IMP)
meiotic spindle organization  (IEA,ISO)
membrane protein ectodomain proteolysis  (IDA)
monocyte differentiation  (IEP)
myoblast fusion  (IEA,ISO)
negative regulation of actin filament severing  (IEA,IMP,ISS)
negative regulation of vascular associated smooth muscle cell migration  (ISO)
phagocytosis, engulfment  (IEA,ISS)
plasma membrane repair  (IDA)
platelet aggregation  (HMP)
platelet formation  (IMP)
positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway  (ISO)
positive regulation of endocytosis  (ISO)
positive regulation of ERK1 and ERK2 cascade  (ISO)
positive regulation of focal adhesion assembly  (ISO)
positive regulation of G protein-coupled receptor signaling pathway  (ISO)
positive regulation of inositol trisphosphate biosynthetic process  (ISO)
positive regulation of insulin secretion involved in cellular response to glucose stimulus  (ISO)
positive regulation of phagocytosis  (ISO)
positive regulation of protein processing in phagocytic vesicle  (IEA,ISS)
protein transport  (IMP)
regulated exocytosis  (IMP)
regulation of cell shape  (IEA,IMP,ISO)
regulation of plasma membrane repair  (IMP)
uropod organization  (IEA,ISO)
vesicle targeting  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. Arrondel C, etal., J Am Soc Nephrol. 2002 Jan;13(1):65-74.
2. MYH9 and APOL1 are both associated with sickle cell disease nephropathy. Ashley-Koch AE, etal., Br J Haematol. 2011 Nov;155(3):386-94. doi: 10.1111/j.1365-2141.2011.08832.x. Epub 2011 Sep 13.
3. African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans. Behar DM, etal., Hum Mol Genet. 2010 May 1;19(9):1816-27. Epub 2010 Feb 9.
4. Further evidence for the involvement of MYH9 in the etiology of non-syndromic cleft lip with or without cleft palate. Birnbaum S, etal., Eur J Oral Sci. 2009 Apr;117(2):200-3. doi: 10.1111/j.1600-0722.2008.00604.x.
5. Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus. Bowles NE, etal., Am J Med Genet A. 2015 Dec;167A(12):2975-84. doi: 10.1002/ajmg.a.37297. Epub 2015 Aug 18.
6. Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate. Chiquet BT, etal., Eur J Hum Genet. 2009 Feb;17(2):195-204. doi: 10.1038/ejhg.2008.149. Epub 2008 Aug 20.
7. Polymorphisms in MYH9 are associated with diabetic nephropathy in European Americans. Cooke JN, etal., Nephrol Dial Transplant. 2012 Apr;27(4):1505-11. Epub 2011 Oct 3.
8. Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. Deutsch S, etal., Blood. 2003 Jul 15;102(2):529-34. Epub 2003 Mar 20.
9. Polymorphisms in the nonmuscle myosin heavy chain 9 gene (MYH9) are associated with albuminuria in hypertensive African Americans: the HyperGEN study. Freedman BI, etal., Am J Nephrol. 2009;29(6):626-32. Epub 2009 Jan 20.
10. Polymorphisms in the non-muscle myosin heavy chain 9 gene (MYH9) are strongly associated with end-stage renal disease historically attributed to hypertension in African Americans. Freedman BI, etal., Kidney Int. 2009 Apr;75(7):736-45. Epub 2009 Jan 28.
11. Non-muscle myosin heavy chain 9 gene MYH9 associations in African Americans with clinically diagnosed type 2 diabetes mellitus-associated ESRD. Freedman BI, etal., Nephrol Dial Transplant. 2009 Nov;24(11):3366-71. Epub 2009 Jun 30.
12. Alterations in expression of myosin and myosin light chain kinases in response to vascular injury. Gallagher PJ, etal., Am J Physiol Cell Physiol. 2000 Oct;279(4):C1078-87.
13. Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome). Ghiggeri GM, etal., Am J Kidney Dis. 2003 Jan;41(1):95-104.
14. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
15. Glomerular MYH9 expression is reduced by HIV-1. Hays T, etal., AIDS. 2012 Apr 24;26(7):797-803.
16. Association among polymorphisms at MYH9, environmental factors, and nonsyndromic orofacial clefts in western China. Jia ZL, etal., DNA Cell Biol. 2010 Jan;29(1):25-32. doi: 10.1089/dna.2009.0935.
17. Podocyte-specific deletion of Myh9 encoding nonmuscle myosin heavy chain 2A predisposes mice to glomerulopathy. Johnstone DB, etal., Mol Cell Biol. 2011 May;31(10):2162-70. Epub 2011 Mar 14.
18. MYH9 is associated with nondiabetic end-stage renal disease in African Americans. Kao WH, etal., Nat Genet. 2008 Oct;40(10):1185-92. Epub 2008 Sep 14.
19. Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. Lalwani AK, etal., Am J Hum Genet. 2000 Nov;67(5):1121-8. Epub 2000 Oct 9.
20. Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA. Martinelli M, etal., J Med Genet. 2007 Jun;44(6):387-92. Epub 2007 Mar 2.
21. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
22. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
23. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
24. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
25. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
26. Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. Sekine T, etal., Kidney Int. 2010 Jul;78(2):207-14. Epub 2010 Mar 3.
27. Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. Seri M, etal., Hum Genet. 2002 Feb;110(2):182-6. Epub 2001 Dec 14.
28. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. Seri M, etal., Nat Genet. 2000 Sep;26(1):103-5.
29. Establishment of mouse model of MYH9 disorders: heterozygous R702C mutation provokes macrothrombocytopenia with leukocyte inclusion bodies, renal glomerulosclerosis and hearing disability. Suzuki N, etal., PLoS One. 2013 Aug 20;8(8):e71187. doi: 10.1371/journal.pone.0071187. eCollection 2013.
30. Genetic variation in APOL1 and MYH9 genes is associated with chronic kidney disease among Nigerians. Tayo BO, etal., Int Urol Nephrol. 2013 Apr;45(2):485-94. doi: 10.1007/s11255-012-0263-4. Epub 2012 Sep 7.
31. Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease. Verver EJ, etal., Ear Hear. 2016 Jan-Feb;37(1):112-20. doi: 10.1097/AUD.0000000000000198.
32. Proteomic profiling of the effect of metabolic acidosis on the apical membrane of the proximal convoluted tubule. Walmsley SJ, etal., Am J Physiol Renal Physiol. 2012 Jun 1;302(11):F1465-77. doi: 10.1152/ajprenal.00390.2011. Epub 2012 Feb 22.
33. Analysis of clinical manifestations, mutant gene and encoded protein in two Chinese MYH9-related disease families. Yi Y, etal., Clin Chim Acta. 2006 Nov;373(1-2):49-54. Epub 2006 May 16.
34. The C-terminal region of S100A4 is important for its metastasis-inducing properties. Zhang S, etal., Oncogene 2005 Jun 23;24(27):4401-11.
Additional References at PubMed
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PMID:30344098   PMID:30420430   PMID:30425250   PMID:30442662   PMID:30455355   PMID:30459231   PMID:30463901   PMID:30503554   PMID:30529400   PMID:30575818   PMID:30585729   PMID:30652415  
PMID:30711629   PMID:30719818   PMID:30737378   PMID:30804502   PMID:30865227   PMID:30890647   PMID:30934202   PMID:30940648   PMID:30948266   PMID:30950024   PMID:30954444   PMID:31067453  
PMID:31091453   PMID:31118506   PMID:31180492   PMID:31239290   PMID:31266968   PMID:31300519   PMID:31353912   PMID:31405213   PMID:31409639   PMID:31452512   PMID:31470122   PMID:31486768  
PMID:31501420   PMID:31519766   PMID:31562665   PMID:31574082   PMID:31577226   PMID:31586073   PMID:31594754   PMID:31605013   PMID:31726371   PMID:31732153   PMID:31735331   PMID:31754475  
PMID:31837246   PMID:31922599   PMID:31995728   PMID:32011449   PMID:32041737   PMID:32056128   PMID:32094322   PMID:32120844   PMID:32129710   PMID:32160526   PMID:32232887   PMID:32296025  
PMID:32322062   PMID:32347575   PMID:32416067   PMID:32422910   PMID:32460013   PMID:32496549   PMID:32529326   PMID:32665550   PMID:32685004   PMID:32687490   PMID:32694731   PMID:32698014  
PMID:32780723   PMID:32788880   PMID:32807901   PMID:32918875   PMID:32929329   PMID:32982961   PMID:33005030   PMID:33024031   PMID:33029523   PMID:33060197   PMID:33194618   PMID:33220257  
PMID:33356805   PMID:33397691   PMID:33415745   PMID:33536335   PMID:33545068   PMID:33567341   PMID:33644029   PMID:33658012   PMID:33729478   PMID:33742100   PMID:33762435   PMID:33766124  
PMID:33855781   PMID:33863777   PMID:33916271   PMID:33947818   PMID:33961781   PMID:33971927   PMID:34013674   PMID:34131310   PMID:34185411   PMID:34297096   PMID:34374341   PMID:34428256  
PMID:34496888   PMID:34645483   PMID:34650049   PMID:34687317   PMID:34709266   PMID:34709727   PMID:34711031   PMID:34711033   PMID:34715250   PMID:34728620   PMID:34729304   PMID:34795231  
PMID:34873039   PMID:34882091   PMID:34887392   PMID:35013218   PMID:35114328   PMID:35147601   PMID:35256949   PMID:35271311   PMID:35296779   PMID:35309869   PMID:35392912   PMID:35404999  
PMID:35414777   PMID:35446349   PMID:35503771   PMID:35509820   PMID:35552390   PMID:35563538   PMID:35676659   PMID:35681168   PMID:35704671   PMID:35710093   PMID:35777956   PMID:35819319  
PMID:35831314   PMID:35844135   PMID:35850772   PMID:35944360   PMID:35973989   PMID:36030536   PMID:36030824   PMID:36042349   PMID:36057605   PMID:36114006   PMID:36123327   PMID:36139430  
PMID:36168627   PMID:36172865   PMID:36215168   PMID:36217030   PMID:36244648   PMID:36261009   PMID:36282215   PMID:36404341   PMID:36509386   PMID:36757050   PMID:36762613   PMID:36929633  
PMID:37069693   PMID:37200287   PMID:37202187  


Genomics

Comparative Map Data
MYH9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382236,281,280 - 36,387,967 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2236,281,280 - 36,388,010 (-)EnsemblGRCh38hg38GRCh38
GRCh372236,677,326 - 36,784,012 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362235,007,272 - 35,113,927 (-)NCBINCBI36Build 36hg18NCBI36
Build 342235,001,826 - 35,108,481NCBI
Celera2220,479,895 - 20,586,681 (-)NCBICelera
Cytogenetic Map22q12.3NCBI
HuRef2219,645,404 - 19,752,216 (-)NCBIHuRef
CHM1_12236,636,447 - 36,743,196 (-)NCBICHM1_1
T2T-CHM13v2.02236,741,430 - 36,848,142 (-)NCBIT2T-CHM13v2.0
Myh9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391577,644,785 - 77,726,375 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1577,644,787 - 77,726,375 (-)EnsemblGRCm39 Ensembl
GRCm381577,760,585 - 77,842,175 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1577,760,587 - 77,842,175 (-)EnsemblGRCm38mm10GRCm38
MGSCv371577,591,019 - 77,672,545 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361577,587,843 - 77,669,360 (-)NCBIMGSCv36mm8
Celera1579,227,040 - 79,308,545 (-)NCBICelera
Cytogenetic Map15E1NCBI
cM Map1536.81NCBI
Myh9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27109,343,718 - 109,424,457 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7109,343,706 - 109,424,457 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7111,099,271 - 111,152,015 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.07113,322,832 - 113,375,576 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.07113,284,741 - 113,337,445 (-)NCBIRnor_WKY
Rnor_6.07118,740,005 - 118,792,507 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7118,741,110 - 118,792,625 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl7118,992,356 - 119,071,712 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07118,737,555 - 118,797,086 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47115,681,459 - 115,732,774 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17115,715,686 - 115,767,004 (-)NCBI
Celera7105,684,430 - 105,736,878 (-)NCBICelera
RH 3.4 Map7811.2RGD
Cytogenetic Map7q34NCBI
Myh9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541322,881,045 - 22,972,450 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541322,881,759 - 22,972,182 (-)NCBIChiLan1.0ChiLan1.0
MYH9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan12248,831,242 - 48,936,531 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02217,200,623 - 17,305,826 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12235,039,461 - 35,121,618 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2235,039,101 - 35,121,618 (-)Ensemblpanpan1.1panPan2
MYH9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11028,063,626 - 28,122,953 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1028,063,624 - 28,122,953 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1027,985,072 - 28,076,495 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01028,817,559 - 28,909,010 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1028,817,514 - 28,909,028 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11028,544,285 - 28,635,641 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01028,853,021 - 28,944,583 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01029,031,010 - 29,122,482 (+)NCBIUU_Cfam_GSD_1.0
Myh9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494511,373,869 - 11,455,815 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364924,384,215 - 4,466,262 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049364924,384,215 - 4,466,229 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MYH9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl511,360,660 - 11,456,472 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1511,365,603 - 11,456,475 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.259,076,302 - 9,165,918 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MYH9
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11918,985,709 - 19,093,304 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1918,986,598 - 19,052,671 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666045106,805,704 - 106,913,198 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Myh9
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475211,327,877 - 11,413,669 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475211,327,881 - 11,414,037 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MYH9
1013 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002473.6(MYH9):c.2900T>A (p.Val967Glu) single nucleotide variant Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032219] Chr22:36300203 [GRCh38]
Chr22:36696249 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.3494G>T (p.Arg1165Leu) single nucleotide variant Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032221] Chr22:36295068 [GRCh38]
Chr22:36691114 [GRCh37]
Chr22:22q12.3
pathogenic|not provided
NM_002473.6(MYH9):c.4270G>T (p.Asp1424Tyr) single nucleotide variant MYH9-related disorder [RCV000790359]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032224]|not provided [RCV002513293] Chr22:36292060 [GRCh38]
Chr22:36688106 [GRCh37]
Chr22:22q12.3
pathogenic
NM_002473.6(MYH9):c.4876A>G (p.Ile1626Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV000402895]|MYH9-related disorder [RCV000368736]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032225]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002504851]|not provided [RCV002054532]|not specified [RCV000037563] Chr22:36288308 [GRCh38]
Chr22:36684354 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter) single nucleotide variant Abnormal bleeding [RCV001270545]|MYH9-related disorder [RCV000790363]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015116]|not provided [RCV001092002] Chr22:36282754 [GRCh38]
Chr22:36678800 [GRCh37]
Chr22:22q12.3
pathogenic
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV002466403]|MYH9-related disorder [RCV000790361]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015119]|not provided [RCV001310800] Chr22:36284474 [GRCh38]
Chr22:36680520 [GRCh37]
Chr22:22q12.3
pathogenic|likely pathogenic
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys) single nucleotide variant Abnormal bleeding [RCV001270614]|Autosomal dominant nonsyndromic hearing loss 17 [RCV001542710]|MYH9-related disorder [RCV000790357]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015121]|not provided [RCV001092004] Chr22:36295069 [GRCh38]
Chr22:36691115 [GRCh37]
Chr22:22q12.3
pathogenic
NM_002473.6(MYH9):c.279C>G (p.Asn93Lys) single nucleotide variant MYH9-related disorder [RCV000790350]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015122] Chr22:36348958 [GRCh38]
Chr22:36745003 [GRCh37]
Chr22:22q12.3
pathogenic
NM_002473.6(MYH9):c.4270G>C (p.Asp1424His) single nucleotide variant Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032223] Chr22:36292060 [GRCh38]
Chr22:36688106 [GRCh37]
Chr22:22q12.3
pathogenic
NM_002473.6(MYH9):c.3464C>T (p.Thr1155Ile) single nucleotide variant Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015124]|not provided [RCV002513057] Chr22:36295526 [GRCh38]
Chr22:36691572 [GRCh37]
Chr22:22q12.3
pathogenic
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV003147289]|MYH9-related disorder [RCV000790354]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015129]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002490369]|not provided [RCV000523446] Chr22:36305985 [GRCh38]
Chr22:36702031 [GRCh37]
Chr22:22q12.3
pathogenic
NM_002473.6(MYH9):c.2114G>A (p.Arg705His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV000015130]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032218]|not provided [RCV001659697] Chr22:36305975 [GRCh38]
Chr22:36702021 [GRCh37]
Chr22:22q12.3
pathogenic|likely pathogenic
NM_002473.6(MYH9):c.5821del (p.Asp1941fs) deletion Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015131] Chr22:36282730 [GRCh38]
Chr22:36678776 [GRCh37]
Chr22:22q12.3
pathogenic
NM_002473.6(MYH9):c.2105G>A (p.Arg702His) single nucleotide variant MYH9-related disorder [RCV000851738]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015132]|not provided [RCV001851865] Chr22:36305984 [GRCh38]
Chr22:36702030 [GRCh37]
Chr22:22q12.3
pathogenic|likely pathogenic
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV002466404]|MYH9-related disorder [RCV000790358]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015134]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002496364]|Thrombocytopenia [RCV001271110]|not provided [RCV002513058] Chr22:36292060 [GRCh38]
Chr22:36688106 [GRCh37]
Chr22:22q12.3
pathogenic|likely pathogenic
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV000477821]|MYH9-related disorder [RCV000790352]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015138]|not provided [RCV001537286] Chr22:36348950 [GRCh38]
Chr22:36744995 [GRCh37]
Chr22:22q12.3
pathogenic|likely pathogenic
NM_002473.6(MYH9):c.3195_3215del (p.Gln1068_Leu1074del) deletion Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015139] Chr22:36296900..36296920 [GRCh38]
Chr22:36692946..36692966 [GRCh37]
Chr22:22q12.3
pathogenic
NM_002473.6(MYH9):c.3195_3215dup (p.Gln1068_Leu1074dup) duplication Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015141] Chr22:36296899..36296900 [GRCh38]
Chr22:36692945..36692946 [GRCh37]
Chr22:22q12.3
pathogenic
NM_002473.6(MYH9):c.228_245del (p.Asn76_Ser81del) deletion Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015142] Chr22:36348992..36349009 [GRCh38]
Chr22:36745037..36745054 [GRCh37]
Chr22:22q12.3
pathogenic
NM_002473.6(MYH9):c.5050C>T (p.Gln1684Ter) single nucleotide variant MYH9-related disorder [RCV000778658] Chr22:36286729 [GRCh38]
Chr22:36682775 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.2810AGA[3] (p.Lys940del) microsatellite Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002265869]|not provided [RCV000722320] Chr22:36300868..36300870 [GRCh38]
Chr22:36696914..36696916 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_002473.6(MYH9):c.1083C>T (p.Asp361=) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV002293991]|Autosomal dominant nonsyndromic hearing loss 17 [RCV000393048]|MYH9-related disorder [RCV000349300]|not provided [RCV000884373]|not specified [RCV000037545] Chr22:36319565 [GRCh38]
Chr22:36715610 [GRCh37]
Chr22:22q12.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002473.6(MYH9):c.1108+9C>T single nucleotide variant Atypical hemolytic-uremic syndrome [RCV002293992]|Autosomal dominant nonsyndromic hearing loss 17 [RCV000317889]|MYH9-related disorder [RCV000279147]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002496594]|not provided [RCV000843626]|not specified [RCV000037546] Chr22:36319531 [GRCh38]
Chr22:36715576 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.1554+7A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV000334868]|MYH9-related disorder [RCV000392730]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001778677]|not provided [RCV002054668]|not specified [RCV000037547] Chr22:36314138 [GRCh38]
Chr22:36710183 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.1728+10G>A single nucleotide variant Atypical hemolytic-uremic syndrome [RCV002293993]|Autosomal dominant nonsyndromic hearing loss 17 [RCV000378689]|MYH9-related disorder [RCV000326334]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001778678]|not provided [RCV001811263]|not specified [RCV000037548] Chr22:36312039 [GRCh38]
Chr22:36708084 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.1729-6C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV000269211]|Kidney disorder [RCV002293994]|MYH9-related disorder [RCV000384702]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002496595]|not provided [RCV000839997]|not specified [RCV000037549] Chr22:36309402 [GRCh38]
Chr22:36705447 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.2038-5T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV000314431]|Kidney disorder [RCV002293995]|MYH9-related disorder [RCV000366795]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002490512]|not provided [RCV000839998]|not specified [RCV000037550] Chr22:36306056 [GRCh38]
Chr22:36702102 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.2061C>T (p.Leu687=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV000275795]|MYH9-related disorder [RCV000354168]|not provided [RCV000840082]|not specified [RCV000037551] Chr22:36306028 [GRCh38]
Chr22:36702074 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.2256T>C (p.Asn752=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV000382652]|MYH9-related disorder [RCV000285855]|not provided [RCV002054669]|not specified [RCV000037552] Chr22:36304129 [GRCh38]
Chr22:36700175 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.3100+11G>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV000351362]|MYH9-related disorder [RCV000296510]|not provided [RCV001540858]|not specified [RCV000037553] Chr22:36298908 [GRCh38]
Chr22:36694954 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV000281034]|MYH9-related disorder [RCV000375503]|not provided [RCV000725348]|not specified [RCV000037554] Chr22:36296923 [GRCh38]
Chr22:36692969 [GRCh37]
Chr22:22q12.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002473.6(MYH9):c.3345A>G (p.Glu1115=) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV002293996]|Autosomal dominant nonsyndromic hearing loss 17 [RCV000309077]|MYH9-related disorder [RCV000404900]|not provided [RCV000992410]|not specified [RCV000037555] Chr22:36295645 [GRCh38]
Chr22:36691691 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.3429T>G (p.Ala1143=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV000404023]|MYH9-related disorder [RCV000351776]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001778679]|not provided [RCV002054670]|not specified [RCV000037556] Chr22:36295561 [GRCh38]
Chr22:36691607 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.3838-12C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV000366178]|MYH9-related disorder [RCV000330231]|not provided [RCV001528025]|not specified [RCV000037557] Chr22:36293875 [GRCh38]
Chr22:36689921 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.3838-8C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV000315405]|Focal segmental glomerulosclerosis [RCV002293997]|MYH9-related disorder [RCV000404950]|not provided [RCV000844387]|not specified [RCV000037558] Chr22:36293871 [GRCh38]
Chr22:36689917 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV000382897]|MYH9-related disorder [RCV000346916]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000990430]|not provided [RCV000992411]|not specified [RCV000037559] Chr22:36292132 [GRCh38]
Chr22:36688178 [GRCh37]
Chr22:22q12.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002473.6(MYH9):c.4563C>T (p.His1521=) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV002293998]|Autosomal dominant nonsyndromic hearing loss 17 [RCV000373096]|MYH9-related disorder [RCV000278039]|not provided [RCV000992412]|not specified [RCV000037560] Chr22:36288934 [GRCh38]
Chr22:36684980 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.4716C>T (p.Asp1572=) single nucleotide variant not specified [RCV000037561] Chr22:36288781 [GRCh38]
Chr22:36684827 [GRCh37]
Chr22:22q12.3
likely benign
NM_002473.6(MYH9):c.4872G>T (p.Ala1624=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV000310599]|MYH9-related disorder [RCV000365226]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001778680]|not provided [RCV002054671]|not specified [RCV000037562] Chr22:36288312 [GRCh38]
Chr22:36684358 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.4899G>A (p.Arg1633=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV000280212]|MYH9-related disorder [RCV000335221]|not provided [RCV002054672]|not specified [RCV000037564] Chr22:36288285 [GRCh38]
Chr22:36684331 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.4952T>C (p.Met1651Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV000392887]|Focal segmental glomerulosclerosis [RCV002293999]|MYH9-related disorder [RCV000338710]|not provided [RCV000512726]|not specified [RCV000037565] Chr22:36286827 [GRCh38]
Chr22:36682873 [GRCh37]
Chr22:22q12.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002473.6(MYH9):c.5151-4G>A single nucleotide variant not provided [RCV000724182]|not specified [RCV000037566] Chr22:36285785 [GRCh38]
Chr22:36681831 [GRCh37]
Chr22:22q12.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002473.6(MYH9):c.5323A>G (p.Lys1775Glu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV000353893]|MYH9-related disorder [RCV000315373]|not provided [RCV000514769]|not specified [RCV000037567] Chr22:36285281 [GRCh38]
Chr22:36681327 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.5483+4C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV000311714]|Kidney disorder [RCV002294000]|MYH9-related disorder [RCV000404724]|not provided [RCV000992415]|not specified [RCV000037568] Chr22:36285117 [GRCh38]
Chr22:36681163 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.5766-3del deletion Atypical hemolytic-uremic syndrome [RCV002294001]|MYH9-related disorder [RCV000281925]|Nonsyndromic Hearing Loss, Dominant [RCV000320666]|not provided [RCV000948132]|not specified [RCV000037569] Chr22:36282788 [GRCh38]
Chr22:36678834 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.5781G>T (p.Pro1927=) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV002294002]|Autosomal dominant nonsyndromic hearing loss 17 [RCV000374178]|MYH9-related disorder [RCV000317245]|not provided [RCV000965497]|not specified [RCV000037570] Chr22:36282770 [GRCh38]
Chr22:36678816 [GRCh37]
Chr22:22q12.3
benign
NM_002473.6(MYH9):c.5818G>A (p.Gly1940Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV000370238]|MYH9-related disorder [RCV000259717]|not provided [RCV000960213]|not specified [RCV000037571] Chr22:36282733 [GRCh38]
Chr22:36678779 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_002473.6(MYH9):c.705+9C>T single nucleotide variant not provided [RCV001852780]|not specified [RCV000037572] Chr22:36322420 [GRCh38]
Chr22:36718465 [GRCh37]
Chr22:22q12.3
likely benign
GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1 copy number loss See cases [RCV000051364] Chr22:35333993..38900177 [GRCh38]
Chr22:35729986..39296182 [GRCh37]
Chr22:34059986..37626128 [NCBI36]
Chr22:22q12.3-13.1
pathogenic
GRCh38/hg38 22q12.3-13.1(chr22:36068124-38002382)x3 copy number gain See cases [<