MYO5A (myosin VA) - Rat Genome Database

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Gene: MYO5A (myosin VA) Homo sapiens
Analyze
Symbol: MYO5A
Name: myosin VA
RGD ID: 731453
HGNC Page HGNC
Description: Enables small GTPase binding activity. Involved in post-Golgi vesicle-mediated transport and vesicle transport along actin filament. Located in several cellular components, including filopodium tip; melanosome; and ruffle. Colocalizes with several cellular components, including actin filament; endosome; and peroxisome. Implicated in Griscelli syndrome type 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: dilute myosin heavy chain, non-muscle; GS1; MYH12; MYO5; myosin V; myosin VA (heavy chain 12, myoxin); myosin, heavy polypeptide kinase; myosin-12; myosin-Va; myoxin; MYR12; unconventional myosin-Va
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 Ensembl1552,307,281 - 52,529,132 (-)EnsemblGRCh38hg38GRCh38
GRCh381552,307,283 - 52,529,050 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371552,599,480 - 52,821,247 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361550,386,770 - 50,608,539 (-)NCBINCBI36hg18NCBI36
Build 341550,392,601 - 50,608,539NCBI
Celera1529,494,500 - 29,716,298 (-)NCBI
Cytogenetic Map15q21.2NCBI
HuRef1529,430,131 - 29,652,241 (-)NCBIHuRef
CHM1_11552,717,420 - 52,939,199 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
asbestos  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bortezomib  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chlorambucil  (ISO)
chlordecone  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
coumestrol  (EXP)
dexamethasone  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
endosulfan  (EXP)
Enterolactone  (EXP)
ethanol  (ISO)
flavone  (EXP)
flavonoids  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fragrance  (EXP)
geldanamycin  (EXP)
indometacin  (EXP)
isoprenaline  (ISO)
L-methionine  (ISO)
mercury dichloride  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
pirinixic acid  (ISO)
quercetin  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
silicon dioxide  (ISO)
sodium dichromate  (EXP)
sunitinib  (EXP)
tamoxifen  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
thimerosal  (EXP)
titanium dioxide  (ISO)
triptonide  (ISO)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
venlafaxine hydrochloride  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
actin filament organization  (IBA)
actin filament-based movement  (ISO,NAS)
axo-dendritic protein transport  (ISO)
cellular response to insulin stimulus  (ISS)
chemical synaptic transmission  (ISO)
developmental pigmentation  (ISO)
dopamine metabolic process  (ISO)
endoplasmic reticulum localization  (ISO)
establishment of endoplasmic reticulum localization to postsynapse  (ISO)
exocytosis  (ISO)
hair follicle maturation  (ISO)
insulin secretion  (ISO)
locomotion involved in locomotory behavior  (ISO)
long-chain fatty acid biosynthetic process  (ISO)
macroautophagy  (ISO)
melanin biosynthetic process  (ISO)
melanin metabolic process  (ISO)
melanocyte differentiation  (ISO)
melanosome localization  (ISO)
melanosome transport  (ISO,NAS)
myelination  (ISO)
negative regulation of dopamine secretion  (ISO)
negative regulation of synaptic transmission, glutamatergic  (ISO)
neuromuscular process controlling balance  (ISO)
odontogenesis  (ISO)
pigmentation  (ISO)
positive regulation of cellular response to insulin stimulus  (ISO)
positive regulation of cytochrome-c oxidase activity  (ISO)
positive regulation of protein localization to plasma membrane  (ISO)
positive regulation of vascular associated smooth muscle cell migration  (ISO)
post-Golgi vesicle-mediated transport  (IMP)
protein localization to plasma membrane  (ISS)
protein transport  (IEA)
protein-containing complex assembly  (ISO)
reactive gliosis  (ISO)
regulation of exocytosis  (ISO)
regulation of Golgi organization  (IMP)
regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity  (ISO)
regulation of postsynaptic cytosolic calcium ion concentration  (ISO)
secretory granule localization  (ISO)
synapse organization  (ISO)
vesicle transport along actin filament  (IBA,IMP,ISO)
vesicle-mediated transport  (ISS)
visual perception  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7835087   PMID:8022818   PMID:8188282   PMID:8889548   PMID:9826529   PMID:9852149   PMID:10391919   PMID:10448864   PMID:10529054   PMID:10704277   PMID:10733681   PMID:10844022  
PMID:11148209   PMID:11432975   PMID:11546872   PMID:11856727   PMID:11870218   PMID:11980908   PMID:12006666   PMID:12062444   PMID:12147688   PMID:12148598   PMID:12403814   PMID:12531900  
PMID:12603861   PMID:12897212   PMID:14702039   PMID:14730011   PMID:15059972   PMID:15117313   PMID:15357836   PMID:15772161   PMID:15788565   PMID:16097034   PMID:17029413   PMID:17487986  
PMID:17635110   PMID:17891151   PMID:17898234   PMID:18029348   PMID:18311135   PMID:18330901   PMID:18401430   PMID:18478159   PMID:18676680   PMID:19008234   PMID:19009530   PMID:19170196  
PMID:19320733   PMID:19521958   PMID:19590514   PMID:19625176   PMID:19692168   PMID:19808891   PMID:19946888   PMID:20203291   PMID:20379614   PMID:20473970   PMID:20631136   PMID:21245139  
PMID:21349835   PMID:21740491   PMID:21873635   PMID:22172676   PMID:22437832   PMID:22586326   PMID:22681889   PMID:23176491   PMID:23398456   PMID:23533145   PMID:23652798   PMID:23934736  
PMID:24006491   PMID:24097982   PMID:24248336   PMID:24339992   PMID:24711643   PMID:25308080   PMID:25720964   PMID:25921289   PMID:26186194   PMID:26209609   PMID:26344197   PMID:26485645  
PMID:26496610   PMID:27129208   PMID:27477320   PMID:27545878   PMID:27880917   PMID:27939378   PMID:28193897   PMID:28266547   PMID:28514442   PMID:28611215   PMID:28939769   PMID:28986522  
PMID:29117863   PMID:29298432   PMID:29298889   PMID:29335527   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29670293   PMID:29863498   PMID:29898384   PMID:30217970   PMID:30425250  
PMID:30471916   PMID:30542119   PMID:30581152   PMID:30733278   PMID:31091453   PMID:31527615   PMID:31586073   PMID:31980649   PMID:32203420   PMID:32496561   PMID:32735728   PMID:32780723  
PMID:32814769   PMID:33005030   PMID:33024031   PMID:33060197   PMID:33194618   PMID:33403043   PMID:33644029   PMID:33727250   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34709727  


Genomics

Comparative Map Data
MYO5A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1552,307,281 - 52,529,132 (-)EnsemblGRCh38hg38GRCh38
GRCh381552,307,283 - 52,529,050 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371552,599,480 - 52,821,247 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361550,386,770 - 50,608,539 (-)NCBINCBI36hg18NCBI36
Build 341550,392,601 - 50,608,539NCBI
Celera1529,494,500 - 29,716,298 (-)NCBI
Cytogenetic Map15q21.2NCBI
HuRef1529,430,131 - 29,652,241 (-)NCBIHuRef
CHM1_11552,717,420 - 52,939,199 (-)NCBICHM1_1
Myo5a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39974,975,183 - 75,130,970 (+)NCBIGRCm39mm39
GRCm39 Ensembl974,978,297 - 75,130,970 (+)Ensembl
GRCm38975,069,799 - 75,223,688 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl975,071,015 - 75,223,688 (+)EnsemblGRCm38mm10GRCm38
MGSCv37974,919,013 - 75,071,495 (+)NCBIGRCm37mm9NCBIm37
MGSCv36974,858,205 - 75,005,381 (+)NCBImm8
Celera972,225,104 - 72,382,491 (+)NCBICelera
Cytogenetic Map9DNCBI
cM Map942.26NCBI
Myo5a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2875,811,985 - 75,980,049 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl875,812,412 - 75,975,918 (+)Ensembl
Rnor_6.0882,038,966 - 82,156,507 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl882,037,977 - 82,156,617 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0881,641,953 - 81,759,995 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4879,909,224 - 80,027,290 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1879,928,282 - 80,046,341 (+)NCBI
Celera875,604,281 - 75,764,672 (+)NCBICelera
Cytogenetic Map8q24NCBI
Myo5a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554092,428,815 - 2,530,012 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554092,409,503 - 2,530,539 (+)NCBIChiLan1.0ChiLan1.0
MYO5A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11549,572,084 - 49,699,507 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1549,578,491 - 49,704,319 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01531,246,192 - 31,470,040 (-)NCBIMhudiblu_PPA_v0panPan3
MYO5A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13017,990,521 - 18,122,160 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3017,888,419 - 18,213,061 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3017,917,091 - 18,108,854 (-)NCBI
ROS_Cfam_1.03018,136,193 - 18,328,524 (-)NCBI
ROS_Cfam_1.0 Ensembl3018,141,754 - 18,328,530 (-)Ensembl
UMICH_Zoey_3.13018,055,372 - 18,247,165 (-)NCBI
UNSW_CanFamBas_1.03018,173,117 - 18,365,153 (-)NCBI
UU_Cfam_GSD_1.03018,280,846 - 18,470,667 (-)NCBI
Myo5a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864096,257,769 - 96,409,323 (-)NCBI
SpeTri2.0NW_00493647114,105,832 - 14,257,386 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MYO5A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1119,134,313 - 119,394,725 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11119,165,751 - 119,398,591 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21132,234,339 - 132,481,044 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MYO5A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12630,865,947 - 31,085,184 (+)NCBIChlSab1.1chlSab2
ChlSab1.12630,865,947 - 31,085,184 (+)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666048110,145,270 - 110,364,249 (-)NCBIVero_WHO_p1.0
Myo5a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247318,114,557 - 8,280,586 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D15S1032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371552,697,150 - 52,697,308UniSTSGRCh37
Build 361550,484,442 - 50,484,600RGDNCBI36
Celera1529,592,182 - 29,592,340RGD
Cytogenetic Map15q21UniSTS
HuRef1529,528,071 - 29,528,225UniSTS
Marshfield Genetic Map1545.62RGD
Marshfield Genetic Map1545.62UniSTS
Genethon Genetic Map1545.5UniSTS
Whitehead-YAC Contig Map15 UniSTS
A004G21  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371552,599,618 - 52,599,752UniSTSGRCh37
Build 361550,386,910 - 50,387,044RGDNCBI36
Celera1529,494,638 - 29,494,772RGD
Cytogenetic Map15q21UniSTS
HuRef1529,430,269 - 29,430,403UniSTS
GeneMap99-GB4 RH Map15179.83UniSTS
WI-19762  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371552,605,376 - 52,605,640UniSTSGRCh37
Build 361550,392,668 - 50,392,932RGDNCBI36
Celera1529,500,405 - 29,500,669RGD
Cytogenetic Map15q21UniSTS
HuRef1529,436,042 - 29,436,306UniSTS
GeneMap99-GB4 RH Map15182.76UniSTS
Whitehead-RH Map15149.7UniSTS
NCBI RH Map15258.5UniSTS
RH80631  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371552,605,306 - 52,605,510UniSTSGRCh37
Build 361550,392,598 - 50,392,802RGDNCBI36
Celera1529,500,335 - 29,500,539RGD
Cytogenetic Map15q21UniSTS
HuRef1529,435,972 - 29,436,176UniSTS
GeneMap99-GB4 RH Map15178.42UniSTS
RH103873  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371552,604,216 - 52,604,336UniSTSGRCh37
Build 361550,391,508 - 50,391,628RGDNCBI36
Celera1529,499,245 - 29,499,365RGD
Cytogenetic Map15q21UniSTS
HuRef1529,434,882 - 29,435,002UniSTS
GeneMap99-GB4 RH Map15181.17UniSTS
SHGC-154423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371552,783,729 - 52,784,040UniSTSGRCh37
Build 361550,571,021 - 50,571,332RGDNCBI36
Celera1529,678,781 - 29,679,092RGD
Cytogenetic Map15q21UniSTS
HuRef1529,614,690 - 29,615,001UniSTS
TNG Radiation Hybrid Map1516952.0UniSTS
SHGC-154476  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371552,722,654 - 52,722,950UniSTSGRCh37
Build 361550,509,946 - 50,510,242RGDNCBI36
Celera1529,617,688 - 29,617,984RGD
Cytogenetic Map15q21UniSTS
HuRef1529,553,570 - 29,553,866UniSTS
TNG Radiation Hybrid Map1516920.0UniSTS
MYO5A_1542  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371552,605,246 - 52,605,950UniSTSGRCh37
Build 361550,392,538 - 50,393,242RGDNCBI36
Celera1529,500,275 - 29,500,979RGD
HuRef1529,435,912 - 29,436,616UniSTS
AB060208  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371552,600,131 - 52,600,281UniSTSGRCh37
Build 361550,387,423 - 50,387,573RGDNCBI36
Celera1529,495,151 - 29,495,301RGD
HuRef1529,430,782 - 29,430,932UniSTS
WI-12413  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371552,599,504 - 52,599,630UniSTSGRCh37
Build 361550,386,796 - 50,386,922RGDNCBI36
Celera1529,494,524 - 29,494,650RGD
Cytogenetic Map15q21UniSTS
HuRef1529,430,155 - 29,430,281UniSTS
GeneMap99-GB4 RH Map15179.49UniSTS
Whitehead-RH Map15148.9UniSTS
NCBI RH Map15271.1UniSTS
RH66379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371552,605,474 - 52,605,604UniSTSGRCh37
Build 361550,392,766 - 50,392,896RGDNCBI36
Celera1529,500,503 - 29,500,633RGD
Cytogenetic Map15q21UniSTS
HuRef1529,436,140 - 29,436,270UniSTS
GeneMap99-GB4 RH Map15182.76UniSTS
NCBI RH Map15258.5UniSTS
RH69927  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371552,609,265 - 52,609,389UniSTSGRCh37
Build 361550,396,557 - 50,396,681RGDNCBI36
Celera1529,504,294 - 29,504,418RGD
Cytogenetic Map15q21UniSTS
HuRef1529,439,947 - 29,440,071UniSTS
GeneMap99-GB4 RH Map15177.53UniSTS
STS-R41828  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371552,605,357 - 52,605,532UniSTSGRCh37
Build 361550,392,649 - 50,392,824RGDNCBI36
Celera1529,500,386 - 29,500,561RGD
Cytogenetic Map15q21UniSTS
HuRef1529,436,023 - 29,436,198UniSTS
GeneMap99-GB4 RH Map15176.97UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
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Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
MYO5A  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371552,605,977 - 52,606,399UniSTSGRCh37
Celera1529,501,006 - 29,501,428UniSTS
HuRef1529,436,643 - 29,437,065UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR145hsa-miR-145-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22895360

Predicted Target Of
Summary Value
Count of predictions:11584
Count of miRNA genes:1369
Interacting mature miRNAs:1798
Transcripts:ENST00000356338, ENST00000358212, ENST00000399228, ENST00000399229, ENST00000399231, ENST00000399233, ENST00000465290, ENST00000469611, ENST00000553916, ENST00000556196, ENST00000561810, ENST00000568914
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 adipose tissue appendage entire extraembryonic component
High
Medium 466 416 446 29 876 19 2348 199 3146 126 357 514 22 772 1179 1
Low 1936 2511 1226 542 1067 394 2006 1941 577 292 1091 1093 150 432 1608 3
Below cutoff 30 58 52 51 5 51 1 53 10 4 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB290180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF055459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF090424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF090425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF090426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF090427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF090428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU738571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU921839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S74799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U90942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y07759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000356338   ⟹   ENSP00000348693
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,307,283 - 52,528,841 (-)Ensembl
RefSeq Acc Id: ENST00000358212   ⟹   ENSP00000350945
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,307,288 - 52,529,050 (-)Ensembl
RefSeq Acc Id: ENST00000399228   ⟹   ENSP00000382174
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,313,213 - 52,353,658 (-)Ensembl
RefSeq Acc Id: ENST00000399229   ⟹   ENSP00000382175
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,313,696 - 52,360,081 (-)Ensembl
RefSeq Acc Id: ENST00000399231   ⟹   ENSP00000382177
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,307,281 - 52,529,050 (-)Ensembl
RefSeq Acc Id: ENST00000399233   ⟹   ENSP00000382179
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,307,283 - 52,528,880 (-)Ensembl
RefSeq Acc Id: ENST00000465290
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,313,282 - 52,323,937 (-)Ensembl
RefSeq Acc Id: ENST00000469611
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,387,750 - 52,396,385 (-)Ensembl
RefSeq Acc Id: ENST00000553916   ⟹   ENSP00000451109
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,313,110 - 52,528,880 (-)Ensembl
RefSeq Acc Id: ENST00000556196   ⟹   ENSP00000451178
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,313,174 - 52,528,882 (-)Ensembl
RefSeq Acc Id: ENST00000561810
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,416,005 - 52,425,967 (-)Ensembl
RefSeq Acc Id: ENST00000568914   ⟹   ENSP00000458016
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,337,810 - 52,351,481 (-)Ensembl
RefSeq Acc Id: ENST00000613858   ⟹   ENSP00000481420
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,307,288 - 52,529,050 (-)Ensembl
RefSeq Acc Id: ENST00000685053   ⟹   ENSP00000510081
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,348,718 - 52,529,114 (-)Ensembl
RefSeq Acc Id: ENST00000685194   ⟹   ENSP00000509314
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,313,261 - 52,379,451 (-)Ensembl
RefSeq Acc Id: ENST00000685760   ⟹   ENSP00000510616
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,416,145 - 52,528,880 (-)Ensembl
RefSeq Acc Id: ENST00000685996   ⟹   ENSP00000509305
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,348,718 - 52,376,558 (-)Ensembl
RefSeq Acc Id: ENST00000686166
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,313,111 - 52,321,818 (-)Ensembl
RefSeq Acc Id: ENST00000686171   ⟹   ENSP00000509118
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,313,175 - 52,346,461 (-)Ensembl
RefSeq Acc Id: ENST00000686603
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,307,314 - 52,340,704 (-)Ensembl
RefSeq Acc Id: ENST00000686659
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,307,583 - 52,315,323 (-)Ensembl
RefSeq Acc Id: ENST00000686796
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,369,922 - 52,377,627 (-)Ensembl
RefSeq Acc Id: ENST00000686989
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,313,126 - 52,350,529 (-)Ensembl
RefSeq Acc Id: ENST00000687172
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,313,179 - 52,348,481 (-)Ensembl
RefSeq Acc Id: ENST00000687574   ⟹   ENSP00000510312
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,307,286 - 52,529,132 (-)Ensembl
RefSeq Acc Id: ENST00000687728   ⟹   ENSP00000509083
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,381,543 - 52,528,826 (-)Ensembl
RefSeq Acc Id: ENST00000687748   ⟹   ENSP00000509068
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,379,625 - 52,428,569 (-)Ensembl
RefSeq Acc Id: ENST00000687968   ⟹   ENSP00000509981
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,410,333 - 52,433,285 (-)Ensembl
RefSeq Acc Id: ENST00000688010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,357,499 - 52,381,668 (-)Ensembl
RefSeq Acc Id: ENST00000688074   ⟹   ENSP00000509404
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,313,109 - 52,379,516 (-)Ensembl
RefSeq Acc Id: ENST00000688361
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,313,181 - 52,318,362 (-)Ensembl
RefSeq Acc Id: ENST00000688792
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,313,171 - 52,380,063 (-)Ensembl
RefSeq Acc Id: ENST00000688798   ⟹   ENSP00000509340
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,313,129 - 52,346,461 (-)Ensembl
RefSeq Acc Id: ENST00000688841   ⟹   ENSP00000508514
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,351,254 - 52,376,558 (-)Ensembl
RefSeq Acc Id: ENST00000689526   ⟹   ENSP00000510068
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,381,543 - 52,528,859 (-)Ensembl
RefSeq Acc Id: ENST00000689601
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,312,665 - 52,380,944 (-)Ensembl
RefSeq Acc Id: ENST00000689859
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,387,750 - 52,390,081 (-)Ensembl
RefSeq Acc Id: ENST00000689897   ⟹   ENSP00000509082
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,351,254 - 52,376,558 (-)Ensembl
RefSeq Acc Id: ENST00000690537
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,396,614 - 52,410,605 (-)Ensembl
RefSeq Acc Id: ENST00000690693   ⟹   ENSP00000509721
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,416,145 - 52,528,880 (-)Ensembl
RefSeq Acc Id: ENST00000690775   ⟹   ENSP00000509359
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,405,287 - 52,410,476 (-)Ensembl
RefSeq Acc Id: ENST00000690802
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,313,195 - 52,323,837 (-)Ensembl
RefSeq Acc Id: ENST00000691028   ⟹   ENSP00000509399
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,405,108 - 52,528,868 (-)Ensembl
RefSeq Acc Id: ENST00000691073
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,372,957 - 52,377,246 (-)Ensembl
RefSeq Acc Id: ENST00000691448   ⟹   ENSP00000508899
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,351,254 - 52,376,558 (-)Ensembl
RefSeq Acc Id: ENST00000691521
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,397,028 - 52,410,580 (-)Ensembl
RefSeq Acc Id: ENST00000691732   ⟹   ENSP00000510463
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,405,287 - 52,410,476 (-)Ensembl
RefSeq Acc Id: ENST00000692201
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,393,401 - 52,410,730 (-)Ensembl
RefSeq Acc Id: ENST00000692324   ⟹   ENSP00000510665
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,375,304 - 52,379,908 (-)Ensembl
RefSeq Acc Id: ENST00000692556   ⟹   ENSP00000510378
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,313,676 - 52,528,806 (-)Ensembl
RefSeq Acc Id: ENST00000692646   ⟹   ENSP00000510243
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,313,163 - 52,379,513 (-)Ensembl
RefSeq Acc Id: ENST00000692708   ⟹   ENSP00000509394
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,382,182 - 52,405,393 (-)Ensembl
RefSeq Acc Id: ENST00000692874
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,307,296 - 52,331,750 (-)Ensembl
RefSeq Acc Id: ENST00000693471   ⟹   ENSP00000509696
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1552,410,333 - 52,433,285 (-)Ensembl
RefSeq Acc Id: NM_000259   ⟹   NP_000250
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,307,283 - 52,529,050 (-)NCBI
GRCh371552,599,480 - 52,821,247 (-)ENTREZGENE
Build 361550,386,770 - 50,608,539 (-)NCBI Archive
HuRef1529,430,131 - 29,652,241 (-)ENTREZGENE
CHM1_11552,717,420 - 52,939,199 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001142495   ⟹   NP_001135967
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,307,283 - 52,528,880 (-)NCBI
GRCh371552,599,480 - 52,821,247 (-)ENTREZGENE
HuRef1529,430,131 - 29,652,241 (-)ENTREZGENE
CHM1_11552,717,420 - 52,939,199 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001382347   ⟹   NP_001369276
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,307,283 - 52,528,880 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001382348   ⟹   NP_001369277
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,307,283 - 52,528,880 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001382349   ⟹   NP_001369278
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,307,283 - 52,528,880 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521607   ⟹   XP_011519909
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,311,521 - 52,524,188 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521609   ⟹   XP_011519911
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,311,521 - 52,524,187 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521610   ⟹   XP_011519912
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,311,521 - 52,524,188 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521611   ⟹   XP_011519913
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,311,521 - 52,524,187 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521612   ⟹   XP_011519914
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,311,521 - 52,524,187 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022227   ⟹   XP_016877716
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,311,521 - 52,524,188 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000250 (Get FASTA)   NCBI Sequence Viewer  
  NP_001135967 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369276 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369277 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369278 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519909 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519911 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519912 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519913 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519914 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877716 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB33211 (Get FASTA)   NCBI Sequence Viewer  
  AAC14188 (Get FASTA)   NCBI Sequence Viewer  
  AAC83701 (Get FASTA)   NCBI Sequence Viewer  
  AAC83702 (Get FASTA)   NCBI Sequence Viewer  
  AAC83703 (Get FASTA)   NCBI Sequence Viewer  
  AAC83704 (Get FASTA)   NCBI Sequence Viewer  
  AAC83705 (Get FASTA)   NCBI Sequence Viewer  
  AAD00702 (Get FASTA)   NCBI Sequence Viewer  
  ACH48182 (Get FASTA)   NCBI Sequence Viewer  
  BAD92724 (Get FASTA)   NCBI Sequence Viewer  
  BAD92742 (Get FASTA)   NCBI Sequence Viewer  
  BAF80583 (Get FASTA)   NCBI Sequence Viewer  
  BAG64659 (Get FASTA)   NCBI Sequence Viewer  
  CAA69035 (Get FASTA)   NCBI Sequence Viewer  
  CAA69036 (Get FASTA)   NCBI Sequence Viewer  
  EAW77447 (Get FASTA)   NCBI Sequence Viewer  
  EAW77448 (Get FASTA)   NCBI Sequence Viewer  
  EAW77449 (Get FASTA)   NCBI Sequence Viewer  
  EAW77450 (Get FASTA)   NCBI Sequence Viewer  
  EAW77451 (Get FASTA)   NCBI Sequence Viewer  
  EAW77452 (Get FASTA)   NCBI Sequence Viewer  
  EAW77453 (Get FASTA)   NCBI Sequence Viewer  
  Q9Y4I1 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001135967   ⟸   NM_001142495
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_000250   ⟸   NM_000259
- Peptide Label: isoform 1
- UniProtKB: Q9Y4I1 (UniProtKB/Swiss-Prot),   Q9UES4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011519914   ⟸   XM_011521612
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011519912   ⟸   XM_011521610
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011519909   ⟸   XM_011521607
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011519913   ⟸   XM_011521611
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011519911   ⟸   XM_011521609
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016877716   ⟸   XM_017022227
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: NP_001369276   ⟸   NM_001382347
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001369278   ⟸   NM_001382349
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001369277   ⟸   NM_001382348
- Peptide Label: isoform 4
RefSeq Acc Id: ENSP00000382174   ⟸   ENST00000399228
RefSeq Acc Id: ENSP00000382175   ⟸   ENST00000399229
RefSeq Acc Id: ENSP00000382177   ⟸   ENST00000399231
RefSeq Acc Id: ENSP00000382179   ⟸   ENST00000399233
RefSeq Acc Id: ENSP00000451178   ⟸   ENST00000556196
RefSeq Acc Id: ENSP00000481420   ⟸   ENST00000613858
RefSeq Acc Id: ENSP00000348693   ⟸   ENST00000356338
RefSeq Acc Id: ENSP00000451109   ⟸   ENST00000553916
RefSeq Acc Id: ENSP00000458016   ⟸   ENST00000568914
RefSeq Acc Id: ENSP00000350945   ⟸   ENST00000358212
RefSeq Acc Id: ENSP00000509404   ⟸   ENST00000688074
RefSeq Acc Id: ENSP00000509068   ⟸   ENST00000687748
RefSeq Acc Id: ENSP00000508899   ⟸   ENST00000691448
RefSeq Acc Id: ENSP00000509314   ⟸   ENST00000685194
RefSeq Acc Id: ENSP00000509721   ⟸   ENST00000690693
RefSeq Acc Id: ENSP00000509394   ⟸   ENST00000692708
RefSeq Acc Id: ENSP00000510081   ⟸   ENST00000685053
RefSeq Acc Id: ENSP00000510312   ⟸   ENST00000687574
RefSeq Acc Id: ENSP00000510463   ⟸   ENST00000691732
RefSeq Acc Id: ENSP00000509359   ⟸   ENST00000690775
RefSeq Acc Id: ENSP00000510378   ⟸   ENST00000692556
RefSeq Acc Id: ENSP00000509082   ⟸   ENST00000689897
RefSeq Acc Id: ENSP00000509305   ⟸   ENST00000685996
RefSeq Acc Id: ENSP00000509399   ⟸   ENST00000691028
RefSeq Acc Id: ENSP00000510243   ⟸   ENST00000692646
RefSeq Acc Id: ENSP00000510665   ⟸   ENST00000692324
RefSeq Acc Id: ENSP00000509083   ⟸   ENST00000687728
RefSeq Acc Id: ENSP00000509696   ⟸   ENST00000693471
RefSeq Acc Id: ENSP00000509981   ⟸   ENST00000687968
RefSeq Acc Id: ENSP00000509118   ⟸   ENST00000686171
RefSeq Acc Id: ENSP00000509340   ⟸   ENST00000688798
RefSeq Acc Id: ENSP00000510068   ⟸   ENST00000689526
RefSeq Acc Id: ENSP00000510616   ⟸   ENST00000685760
RefSeq Acc Id: ENSP00000508514   ⟸   ENST00000688841
Promoters
RGD ID:6792469
Promoter ID:HG_KWN:21432
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000356338,   ENST00000358212,   UC002ABX.2,   UC002ABY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361550,608,191 - 50,608,857 (-)MPROMDB
RGD ID:7229531
Promoter ID:EPDNEW_H20511
Type:initiation region
Name:MYO5A_1
Description:myosin VA
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20512  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,528,880 - 52,528,940EPDNEW
RGD ID:7229533
Promoter ID:EPDNEW_H20512
Type:initiation region
Name:MYO5A_2
Description:myosin VA
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20511  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381552,529,126 - 52,529,186EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001382347.1(MYO5A):c.2332C>T (p.Arg778Ter) single nucleotide variant Griscelli syndrome type 1 [RCV000015113] Chr15:52376435 [GRCh38]
Chr15:52668632 [GRCh37]
Chr15:15q21.2
pathogenic
MYO5A, 47-BP INS, NT4634 insertion Griscelli syndrome type 1 [RCV000015114] Chr15:15q21 pathogenic
MYO5A, F-EXON DEL deletion Griscelli syndrome type 3 [RCV000015115] Chr15:15q21 pathogenic
NM_000259.3(MYO5A):c.28-31276C>T single nucleotide variant Lung cancer [RCV000099545] Chr15:52464561 [GRCh38]
Chr15:52756758 [GRCh37]
Chr15:15q21.2
uncertain significance
GRCh38/hg38 15q21.1-21.3(chr15:46042302-54195828)x1 copy number loss See cases [RCV000051619] Chr15:46042302..54195828 [GRCh38]
Chr15:46334500..54488025 [GRCh37]
Chr15:44121792..52275317 [NCBI36]
Chr15:15q21.1-21.3
pathogenic
GRCh38/hg38 15q21.1-21.3(chr15:48695331-53923002)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051620]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051620]|See cases [RCV000051620] Chr15:48695331..53923002 [GRCh38]
Chr15:48987528..54215199 [GRCh37]
Chr15:46774820..52002491 [NCBI36]
Chr15:15q21.1-21.3
pathogenic
GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1 copy number loss See cases [RCV000051621] Chr15:50864913..59646577 [GRCh38]
Chr15:51157110..59938776 [GRCh37]
Chr15:48944402..57726068 [NCBI36]
Chr15:15q21.2-22.2
pathogenic
NM_001382347.1(MYO5A):c.2573G>T (p.Arg858Leu) single nucleotide variant not provided [RCV000087163] Chr15:52375308 [GRCh38]
Chr15:52667505 [GRCh37]
Chr15:15q21.2
uncertain significance
NM_001382347.1(MYO5A):c.3604G>T (p.Glu1202Ter) single nucleotide variant Griscelli syndrome type 1 [RCV001294061] Chr15:52353622 [GRCh38]
Chr15:52645819 [GRCh37]
Chr15:15q21.2
pathogenic
GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1 copy number loss See cases [RCV000135639] Chr15:47460844..52494222 [GRCh38]
Chr15:47753041..52786419 [GRCh37]
Chr15:45540333..50573711 [NCBI36]
Chr15:15q21.1-21.2
pathogenic
GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1 copy number loss See cases [RCV000136661] Chr15:51276690..57088386 [GRCh38]
Chr15:51568887..57380584 [GRCh37]
Chr15:49356179..55167876 [NCBI36]
Chr15:15q21.2-21.3
pathogenic
NM_001382347.1(MYO5A):c.1094G>A (p.Gly365Asp) single nucleotide variant not specified [RCV000192795] Chr15:52397426 [GRCh38]
Chr15:52689623 [GRCh37]
Chr15:15q21.2
uncertain significance
NM_001382347.1(MYO5A):c.5409+4G>A single nucleotide variant not provided [RCV000951321]|not specified [RCV000193042] Chr15:52317044 [GRCh38]
Chr15:52609241 [GRCh37]
Chr15:15q21.2
benign|likely benign
NM_001382347.1(MYO5A):c.1476T>C (p.Asn492=) single nucleotide variant not specified [RCV000194026] Chr15:52391996 [GRCh38]
Chr15:52684193 [GRCh37]
Chr15:15q21.2
uncertain significance
NM_001382347.1(MYO5A):c.852C>G (p.Asn284Lys) single nucleotide variant not specified [RCV000195114] Chr15:52407386 [GRCh38]
Chr15:52699583 [GRCh37]
Chr15:15q21.2
uncertain significance
NM_001382347.1(MYO5A):c.4977G>A (p.Thr1659=) single nucleotide variant not specified [RCV000195236] Chr15:52319317 [GRCh38]
Chr15:52611514 [GRCh37]
Chr15:15q21.2
uncertain significance
NM_001382347.1(MYO5A):c.5619C>T (p.Gly1873=) single nucleotide variant not specified [RCV000193896] Chr15:52313720 [GRCh38]
Chr15:52605917 [GRCh37]
Chr15:15q21.2
uncertain significance
NM_001382347.1(MYO5A):c.5140G>A (p.Val1714Ile) single nucleotide variant not provided [RCV000224692] Chr15:52319154 [GRCh38]
Chr15:52611351 [GRCh37]
Chr15:15q21.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001382347.1(MYO5A):c.5409+16C>T single nucleotide variant not provided [RCV000514930]|not specified [RCV000248532] Chr15:52317032 [GRCh38]
Chr15:52609229 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.4239+20C>T single nucleotide variant not specified [RCV000248878] Chr15:52340176 [GRCh38]
Chr15:52632373 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.3207C>T (p.Leu1069=) single nucleotide variant not provided [RCV000907888]|not specified [RCV000251312] Chr15:52364656 [GRCh38]
Chr15:52656853 [GRCh37]
Chr15:15q21.2
benign|likely benign
NM_001382347.1(MYO5A):c.696T>C (p.Tyr232=) single nucleotide variant not provided [RCV000908220]|not specified [RCV000253704] Chr15:52410393 [GRCh38]
Chr15:52702590 [GRCh37]
Chr15:15q21.2
benign|likely benign
NM_001382347.1(MYO5A):c.3960A>T (p.Arg1320Ser) single nucleotide variant not provided [RCV001640476]|not specified [RCV000244092] Chr15:52343197 [GRCh38]
Chr15:52635394 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.2817+3G>A single nucleotide variant not specified [RCV000246574] Chr15:52372121 [GRCh38]
Chr15:52664318 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.5040T>C (p.Asp1680=) single nucleotide variant not provided [RCV001651121]|not specified [RCV000244201] Chr15:52319254 [GRCh38]
Chr15:52611451 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.3414A>G (p.Ser1138=) single nucleotide variant not provided [RCV001707570]|not specified [RCV000246658] Chr15:52359977 [GRCh38]
Chr15:52652174 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.456-4A>G single nucleotide variant Griscelli syndrome type 1 [RCV001778823]|not provided [RCV001618378]|not specified [RCV000254036] Chr15:52416305 [GRCh38]
Chr15:52708502 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.3309+18del deletion not provided [RCV001618377]|not specified [RCV000241879] Chr15:52364536 [GRCh38]
Chr15:52656733 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.3567+20C>T single nucleotide variant not specified [RCV000244402] Chr15:52353851 [GRCh38]
Chr15:52646048 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.2814G>A (p.Glu938=) single nucleotide variant not provided [RCV000953560]|not specified [RCV000242176] Chr15:52372127 [GRCh38]
Chr15:52664324 [GRCh37]
Chr15:15q21.2
benign|likely benign
NM_001382347.1(MYO5A):c.1880T>C (p.Met627Thr) single nucleotide variant not provided [RCV001651120]|not specified [RCV000242189] Chr15:52384195 [GRCh38]
Chr15:52676392 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.2730C>T (p.Ile910=) single nucleotide variant not provided [RCV001689788]|not specified [RCV000250146] Chr15:52372211 [GRCh38]
Chr15:52664408 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.3567+19C>T single nucleotide variant not specified [RCV000252624] Chr15:52353852 [GRCh38]
Chr15:52646049 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.3849+7G>A single nucleotide variant not provided [RCV000900104]|not specified [RCV000252721] Chr15:52351247 [GRCh38]
Chr15:52643444 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.947-16C>T single nucleotide variant not specified [RCV000245512] Chr15:52405409 [GRCh38]
Chr15:52697606 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.201A>T (p.Ile67=) single nucleotide variant not provided [RCV000909906]|not specified [RCV000245600] Chr15:52428507 [GRCh38]
Chr15:52720704 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.3736C>T (p.Arg1246Cys) single nucleotide variant Griscelli syndrome type 1 [RCV000678394]|not provided [RCV001537531]|not specified [RCV000247971] Chr15:52351367 [GRCh38]
Chr15:52643564 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.1543-13T>C single nucleotide variant Griscelli syndrome type 1 [RCV001778822]|not provided [RCV001682967]|not specified [RCV000250636] Chr15:52389376 [GRCh38]
Chr15:52681573 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.3098T>G (p.Leu1033Trp) single nucleotide variant Griscelli syndrome type 1 [RCV000723271] Chr15:52367093 [GRCh38]
Chr15:52659290 [GRCh37]
Chr15:15q21.2
uncertain significance
NM_001382347.1(MYO5A):c.4591C>G (p.Pro1531Ala) single nucleotide variant Hereditary breast and ovarian cancer syndrome [RCV001374539] Chr15:52327971 [GRCh38]
Chr15:52620168 [GRCh37]
Chr15:15q21.2
uncertain significance
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
NM_001382347.1(MYO5A):c.*3G>C single nucleotide variant not specified [RCV000500954] Chr15:52313693 [GRCh38]
Chr15:52605890 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.3568-4C>T single nucleotide variant not provided [RCV000895160]|not specified [RCV000502710] Chr15:52353662 [GRCh38]
Chr15:52645859 [GRCh37]
Chr15:15q21.2
benign|likely benign
NM_001382347.1(MYO5A):c.3136G>A (p.Val1046Met) single nucleotide variant Griscelli syndrome type 1 [RCV001731727]|Intellectual disability [RCV001252332]|not provided [RCV000658717]|not specified [RCV000502933] Chr15:52367055 [GRCh38]
Chr15:52659252 [GRCh37]
Chr15:15q21.2
likely benign|uncertain significance
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
NM_001382347.1(MYO5A):c.4200C>G (p.Ser1400Arg) single nucleotide variant Dystonia [RCV000490925] Chr15:52340235 [GRCh38]
Chr15:52632432 [GRCh37]
Chr15:15q21.2
pathogenic
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
NM_001382347.1(MYO5A):c.855dup (p.Asn286Ter) duplication not provided [RCV000658718] Chr15:52407382..52407383 [GRCh38]
Chr15:52699579..52699580 [GRCh37]
Chr15:15q21.2
likely pathogenic
NM_001382347.1(MYO5A):c.2012+1G>T single nucleotide variant Griscelli syndrome type 1 [RCV000680043] Chr15:52383090 [GRCh38]
Chr15:52675287 [GRCh37]
Chr15:15q21.2
pathogenic
GRCh37/hg19 15q21.2-21.3(chr15:50727285-57603305)x3 copy number gain not provided [RCV000683691] Chr15:50727285..57603305 [GRCh37]
Chr15:15q21.2-21.3
pathogenic
NM_001382347.1(MYO5A):c.2481G>T (p.Met827Ile) single nucleotide variant Intellectual disability [RCV001252331] Chr15:52375400 [GRCh38]
Chr15:52667597 [GRCh37]
Chr15:15q21.2
likely benign
GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1 copy number loss not provided [RCV000683686] Chr15:43759773..53252240 [GRCh37]
Chr15:15q15.3-21.3
pathogenic
MYO5A, ARG1246CYS single nucleotide variant Griscelli syndrome type 1 [RCV000678394] Chr15:15q21.2 benign
NM_001382347.1(MYO5A):c.5234+12C>T single nucleotide variant not provided [RCV001730277]|not specified [RCV001730278] Chr15:52319048 [GRCh38]
Chr15:52611245 [GRCh37]
Chr15:15q21.2
benign|likely 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_001382347.1(MYO5A):c.947-122A>G single nucleotide variant not provided [RCV001691206] Chr15:52405515 [GRCh38]
Chr15:52697712 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.3849+8C>G single nucleotide variant not provided [RCV000979628] Chr15:52351246 [GRCh38]
Chr15:52643443 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.612+153G>A single nucleotide variant not provided [RCV001708145] Chr15:52415992 [GRCh38]
Chr15:52708189 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.3066+296_3066+299del deletion not provided [RCV001668042] Chr15:52369870..52369873 [GRCh38]
Chr15:52662067..52662070 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.2818-308C>G single nucleotide variant not provided [RCV001668068] Chr15:52370725 [GRCh38]
Chr15:52662922 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.4711-71A>G single nucleotide variant not provided [RCV001708579] Chr15:52323515 [GRCh38]
Chr15:52615712 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.3621+56T>C single nucleotide variant not provided [RCV001707286] Chr15:52353549 [GRCh38]
Chr15:52645746 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.1752+279C>T single nucleotide variant not provided [RCV001647969] Chr15:52387550 [GRCh38]
Chr15:52679747 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.3850-101_3850-100dup duplication not provided [RCV001668045] Chr15:52348923..52348924 [GRCh38]
Chr15:52641120..52641121 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.4040+255C>T single nucleotide variant not provided [RCV001681125] Chr15:52342862 [GRCh38]
Chr15:52635059 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.4040+291G>C single nucleotide variant not provided [RCV001610873] Chr15:52342826 [GRCh38]
Chr15:52635023 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.1402-7A>T single nucleotide variant not provided [RCV000949380] Chr15:52392077 [GRCh38]
Chr15:52684274 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.947-9_947-8del deletion not provided [RCV000885240] Chr15:52405401..52405402 [GRCh38]
Chr15:52697598..52697599 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.4794A>G (p.Gly1598=) single nucleotide variant not provided [RCV000924792] Chr15:52323361 [GRCh38]
Chr15:52615558 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.4416G>A (p.Gln1472=) single nucleotide variant not provided [RCV000924793] Chr15:52330492 [GRCh38]
Chr15:52622689 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.1086= (p.Glu362=) variation not provided [RCV000947631] Chr15:52397434 [GRCh38]
Chr15:52689631 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.3300C>T (p.Thr1100=) single nucleotide variant not provided [RCV000900940] Chr15:52364563 [GRCh38]
Chr15:52656760 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.5121T>G (p.Pro1707=) single nucleotide variant not provided [RCV000926014] Chr15:52319173 [GRCh38]
Chr15:52611370 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.3424-7G>T single nucleotide variant not provided [RCV000926888] Chr15:52354021 [GRCh38]
Chr15:52646218 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.5093C>T (p.Ser1698Leu) single nucleotide variant not provided [RCV000949585] Chr15:52319201 [GRCh38]
Chr15:52611398 [GRCh37]
Chr15:15q21.2
likely benign|conflicting interpretations of pathogenicity
NM_001382347.1(MYO5A):c.2502C>T (p.Tyr834=) single nucleotide variant not provided [RCV000976098] Chr15:52375379 [GRCh38]
Chr15:52667576 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.4904A>T (p.Tyr1635Phe) single nucleotide variant not provided [RCV000976163] Chr15:52321406 [GRCh38]
Chr15:52613603 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.1608A>C (p.Ala536=) single nucleotide variant not provided [RCV000899500] Chr15:52389298 [GRCh38]
Chr15:52681495 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.756+10C>A single nucleotide variant not provided [RCV000903796] Chr15:52410323 [GRCh38]
Chr15:52702520 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.1872A>C (p.Pro624=) single nucleotide variant not provided [RCV000902113] Chr15:52384203 [GRCh38]
Chr15:52676400 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.5229G>A (p.Gln1743=) single nucleotide variant not provided [RCV000942281] Chr15:52319065 [GRCh38]
Chr15:52611262 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.2585G>A (p.Arg862His) single nucleotide variant not provided [RCV000995361] Chr15:52372356 [GRCh38]
Chr15:52664553 [GRCh37]
Chr15:15q21.2
uncertain significance
NM_001382347.1(MYO5A):c.318C>T (p.Val106=) single nucleotide variant not provided [RCV000942574] Chr15:52425967 [GRCh38]
Chr15:52718164 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.4614G>T (p.Leu1538=) single nucleotide variant not provided [RCV000933003] Chr15:52327948 [GRCh38]
Chr15:52620145 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.1368T>C (p.Tyr456=) single nucleotide variant not provided [RCV000963998] Chr15:52396349 [GRCh38]
Chr15:52688546 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.5471C>T (p.Ser1824Leu) single nucleotide variant not provided [RCV000943099] Chr15:52314142 [GRCh38]
Chr15:52606339 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.4432C>T (p.Pro1478Ser) single nucleotide variant Intellectual disability [RCV001252330]|not provided [RCV000908726] Chr15:52330476 [GRCh38]
Chr15:52622673 [GRCh37]
Chr15:15q21.2
likely benign|conflicting interpretations of pathogenicity
NM_001382347.1(MYO5A):c.2526= (p.Ile842=) variation not provided [RCV000947629] Chr15:52375355 [GRCh38]
Chr15:52667552 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.3533G>A (p.Arg1178His) single nucleotide variant not provided [RCV000899340] Chr15:52353905 [GRCh38]
Chr15:52646102 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.28-9G>T single nucleotide variant not provided [RCV000953697] Chr15:52433294 [GRCh38]
Chr15:52725491 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.726T>C (p.Tyr242=) single nucleotide variant not provided [RCV000915090] Chr15:52410363 [GRCh38]
Chr15:52702560 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.5316C>T (p.Leu1772=) single nucleotide variant not provided [RCV000979312] Chr15:52317141 [GRCh38]
Chr15:52609338 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.3568-8T>C single nucleotide variant not provided [RCV000895161] Chr15:52353666 [GRCh38]
Chr15:52645863 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.2477G>A (p.Arg826His) single nucleotide variant Griscelli syndrome type 1 [RCV001333314]|not provided [RCV000919256] Chr15:52375404 [GRCh38]
Chr15:52667601 [GRCh37]
Chr15:15q21.2
likely benign|uncertain significance
NM_001382347.1(MYO5A):c.1029A>C (p.Arg343=) single nucleotide variant not provided [RCV000888019] Chr15:52405311 [GRCh38]
Chr15:52697508 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.4116G>A (p.Gln1372=) single nucleotide variant not provided [RCV000942455] Chr15:52340319 [GRCh38]
Chr15:52632516 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.5020C>A (p.Arg1674=) single nucleotide variant not provided [RCV000916185] Chr15:52319274 [GRCh38]
Chr15:52611471 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.126C>T (p.Leu42=) single nucleotide variant not provided [RCV000937849] Chr15:52433187 [GRCh38]
Chr15:52725384 [GRCh37]
Chr15:15q21.2
likely benign
GRCh37/hg19 15q21.2-21.3(chr15:50083229-53439931)x1 copy number loss not provided [RCV000848123] Chr15:50083229..53439931 [GRCh37]
Chr15:15q21.2-21.3
uncertain significance
NM_001382347.1(MYO5A):c.4602G>A (p.Pro1534=) single nucleotide variant not provided [RCV000916816] Chr15:52327960 [GRCh38]
Chr15:52620157 [GRCh37]
Chr15:15q21.2
likely benign
GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3 copy number gain not provided [RCV000845891] Chr15:48000433..60747551 [GRCh37]
Chr15:15q21.1-22.2
pathogenic
GRCh37/hg19 15q21.2(chr15:51735136-52620104)x1 copy number loss not provided [RCV000849163] Chr15:51735136..52620104 [GRCh37]
Chr15:15q21.2
uncertain significance
GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3 copy number gain not provided [RCV000849275] Chr15:49031132..56740397 [GRCh37]
Chr15:15q21.1-21.3
pathogenic
NM_001382347.1(MYO5A):c.1543-84del deletion Griscelli syndrome type 1 [RCV000989339]|not provided [RCV001692335] Chr15:52389447 [GRCh38]
Chr15:52681644 [GRCh37]
Chr15:15q21.2
benign
GRCh37/hg19 15q21.2(chr15:52658406-52803756)x1 copy number loss not provided [RCV001006690] Chr15:52658406..52803756 [GRCh37]
Chr15:15q21.2
uncertain significance
NM_001382347.1(MYO5A):c.1543-13del deletion not provided [RCV001715100] Chr15:52389376 [GRCh38]
Chr15:52681573 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.2577+295T>C single nucleotide variant not provided [RCV001619038] Chr15:52375009 [GRCh38]
Chr15:52667206 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.2012+27A>G single nucleotide variant Griscelli syndrome type 1 [RCV001779270]|not provided [RCV001638595] Chr15:52383064 [GRCh38]
Chr15:52675261 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.2577+303A>C single nucleotide variant not provided [RCV001610063] Chr15:52375001 [GRCh38]
Chr15:52667198 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.3424-247T>C single nucleotide variant not provided [RCV001658686] Chr15:52354261 [GRCh38]
Chr15:52646458 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.1053+198TG[18] microsatellite not provided [RCV001597628] Chr15:52405052..52405053 [GRCh38]
Chr15:52697249..52697250 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.*32T>C single nucleotide variant not provided [RCV001695254] Chr15:52313664 [GRCh38]
Chr15:52605861 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.613-129_613-126dup duplication not provided [RCV001533990] Chr15:52410588..52410589 [GRCh38]
Chr15:52702785..52702786 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.756+130C>T single nucleotide variant not provided [RCV001674171] Chr15:52410203 [GRCh38]
Chr15:52702400 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.3858+12dup duplication Griscelli syndrome type 1 [RCV001779283]|not provided [RCV001649539] Chr15:52348793..52348794 [GRCh38]
Chr15:52640990..52640991 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.456-36A>C single nucleotide variant not provided [RCV001651750] Chr15:52416337 [GRCh38]
Chr15:52708534 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.1053+198TG[21] microsatellite not provided [RCV001641626] Chr15:52405051..52405052 [GRCh38]
Chr15:52697248..52697249 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.4409-86A>C single nucleotide variant not provided [RCV001639815] Chr15:52330585 [GRCh38]
Chr15:52622782 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.1753-193G>A single nucleotide variant not provided [RCV001689264] Chr15:52384515 [GRCh38]
Chr15:52676712 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.139-142C>A single nucleotide variant not provided [RCV001676651] Chr15:52428711 [GRCh38]
Chr15:52720908 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.2817+201TTA[12] microsatellite not provided [RCV001640066] Chr15:52371879..52371887 [GRCh38]
Chr15:52664076..52664084 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.757-213A>G single nucleotide variant not provided [RCV001614133] Chr15:52408353 [GRCh38]
Chr15:52700550 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.4952-286C>A single nucleotide variant not provided [RCV001621153] Chr15:52319628 [GRCh38]
Chr15:52611825 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.303G>A (p.Thr101=) single nucleotide variant not provided [RCV000896405] Chr15:52428405 [GRCh38]
Chr15:52720602 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.477C>T (p.Ile159=) single nucleotide variant not provided [RCV000883295] Chr15:52416280 [GRCh38]
Chr15:52708477 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.3959+8G>A single nucleotide variant not provided [RCV000888018] Chr15:52346353 [GRCh38]
Chr15:52638550 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.839-7A>G single nucleotide variant Intellectual disability [RCV001252329]|not provided [RCV000973967]|not specified [RCV001701392] Chr15:52407406 [GRCh38]
Chr15:52699603 [GRCh37]
Chr15:15q21.2
benign|likely benign
NM_001382347.1(MYO5A):c.4596A>C (p.Gly1532=) single nucleotide variant not provided [RCV000910078] Chr15:52327966 [GRCh38]
Chr15:52620163 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.1494T>G (p.Leu498=) single nucleotide variant not provided [RCV000910079] Chr15:52391978 [GRCh38]
Chr15:52684175 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.1191G>A (p.Thr397=) single nucleotide variant not provided [RCV000947630] Chr15:52397329 [GRCh38]
Chr15:52689526 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.2067C>G (p.Thr689=) single nucleotide variant not provided [RCV000886237] Chr15:52379854 [GRCh38]
Chr15:52672051 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.4011G>A (p.Leu1337=) single nucleotide variant not provided [RCV000909387] Chr15:52343146 [GRCh38]
Chr15:52635343 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.4506G>A (p.Leu1502=) single nucleotide variant not provided [RCV000968303] Chr15:52330402 [GRCh38]
Chr15:52622599 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.2385C>T (p.Thr795=) single nucleotide variant not provided [RCV000968304] Chr15:52376382 [GRCh38]
Chr15:52668579 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.2679G>A (p.Gln893=) single nucleotide variant not provided [RCV000932836] Chr15:52372262 [GRCh38]
Chr15:52664459 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.2491C>T (p.Arg831Cys) single nucleotide variant not provided [RCV000886324] Chr15:52375390 [GRCh38]
Chr15:52667587 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.4952-6C>T single nucleotide variant not provided [RCV000880149]|not specified [RCV001700485] Chr15:52319348 [GRCh38]
Chr15:52611545 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.4914C>G (p.Leu1638=) single nucleotide variant not provided [RCV000948958]|not specified [RCV001701370] Chr15:52321396 [GRCh38]
Chr15:52613593 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.4986C>G (p.Gly1662=) single nucleotide variant not provided [RCV000912147] Chr15:52319308 [GRCh38]
Chr15:52611505 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.2082G>A (p.Ala694=) single nucleotide variant not provided [RCV000911227] Chr15:52379839 [GRCh38]
Chr15:52672036 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.4996G>C (p.Val1666Leu) single nucleotide variant not provided [RCV000934043] Chr15:52319298 [GRCh38]
Chr15:52611495 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.510A>C (p.Thr170=) single nucleotide variant not provided [RCV000912028] Chr15:52416247 [GRCh38]
Chr15:52708444 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.5595C>G (p.Thr1865=) single nucleotide variant not provided [RCV000890825] Chr15:52313744 [GRCh38]
Chr15:52605941 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.1200C>T (p.Arg400=) single nucleotide variant not provided [RCV000911317] Chr15:52397320 [GRCh38]
Chr15:52689517 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.2952G>T (p.Arg984=) single nucleotide variant not provided [RCV000890826] Chr15:52370283 [GRCh38]
Chr15:52662480 [GRCh37]
Chr15:15q21.2
likely benign
NM_001382347.1(MYO5A):c.3849+285A>G single nucleotide variant not provided [RCV001721758] Chr15:52350969 [GRCh38]
Chr15:52643166 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.2208+38G>A single nucleotide variant not provided [RCV001656012] Chr15:52379587 [GRCh38]
Chr15:52671784 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.28-105T>G single nucleotide variant not provided [RCV001635921] Chr15:52433390 [GRCh38]
Chr15:52725587 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.1320-217del deletion not provided [RCV001596768] Chr15:52396614 [GRCh38]
Chr15:52688811 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.3424-315C>T single nucleotide variant not provided [RCV001636388] Chr15:52354329 [GRCh38]
Chr15:52646526 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.1914+151C>T single nucleotide variant not provided [RCV001620946] Chr15:52384010 [GRCh38]
Chr15:52676207 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.2818-56A>G single nucleotide variant not provided [RCV001608236] Chr15:52370473 [GRCh38]
Chr15:52662670 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.27+73G>A single nucleotide variant not provided [RCV001621871] Chr15:52528707 [GRCh38]
Chr15:52820904 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.3849+221T>A single nucleotide variant not provided [RCV001597327] Chr15:52351033 [GRCh38]
Chr15:52643230 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.613-26A>G single nucleotide variant Griscelli syndrome type 1 [RCV001779306]|not provided [RCV001675004] Chr15:52410502 [GRCh38]
Chr15:52702699 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.2817+201TTA[16] microsatellite not provided [RCV001688897] Chr15:52371878..52371879 [GRCh38]
Chr15:52664075..52664076 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.2209-67C>T single nucleotide variant not provided [RCV001639336] Chr15:52376625 [GRCh38]
Chr15:52668822 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.757-278T>C single nucleotide variant not provided [RCV001657582] Chr15:52408418 [GRCh38]
Chr15:52700615 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.613-308C>T single nucleotide variant not provided [RCV001657370] Chr15:52410784 [GRCh38]
Chr15:52702981 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.3960-63C>T single nucleotide variant not provided [RCV001721782] Chr15:52343260 [GRCh38]
Chr15:52635457 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.3066+299del deletion not provided [RCV001637642] Chr15:52369870 [GRCh38]
Chr15:52662067 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.4040+215dup duplication not provided [RCV001619567] Chr15:52342901..52342902 [GRCh38]
Chr15:52635098..52635099 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.4041-57G>T single nucleotide variant not provided [RCV001661260] Chr15:52340451 [GRCh38]
Chr15:52632648 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.456-188T>A single nucleotide variant not provided [RCV001674039] Chr15:52416489 [GRCh38]
Chr15:52708686 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.839-264G>A single nucleotide variant not provided [RCV001676825] Chr15:52407663 [GRCh38]
Chr15:52699860 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.2817+201TTA[10] microsatellite not provided [RCV001677065] Chr15:52371879..52371893 [GRCh38]
Chr15:52664076..52664090 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.2577+232C>G single nucleotide variant not provided [RCV001657129] Chr15:52375072 [GRCh38]
Chr15:52667269 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.1542+123G>T single nucleotide variant not provided [RCV001620527] Chr15:52391807 [GRCh38]
Chr15:52684004 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.4239+178G>A single nucleotide variant not provided [RCV001654018] Chr15:52340018 [GRCh38]
Chr15:52632215 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.4951+54G>A single nucleotide variant not provided [RCV001648795] Chr15:52321305 [GRCh38]
Chr15:52613502 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.1668+58A>G single nucleotide variant not provided [RCV001710590] Chr15:52389180 [GRCh38]
Chr15:52681377 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.3424-305G>A single nucleotide variant not provided [RCV001667839] Chr15:52354319 [GRCh38]
Chr15:52646516 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.456-181C>T single nucleotide variant not provided [RCV001685937] Chr15:52416482 [GRCh38]
Chr15:52708679 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.311-164G>A single nucleotide variant not provided [RCV001669265] Chr15:52426138 [GRCh38]
Chr15:52718335 [GRCh37]
Chr15:15q21.2
benign
Single allele single nucleotide variant not provided [RCV001651392] Chr15:52529317 [GRCh38]
Chr15:52821514 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.456-194_456-193insT insertion not provided [RCV001678785] Chr15:52416494..52416495 [GRCh38]
Chr15:52708691..52708692 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.455+269A>C single nucleotide variant not provided [RCV001649084] Chr15:52425561 [GRCh38]
Chr15:52717758 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.1053+289C>T single nucleotide variant not provided [RCV001671450] Chr15:52404998 [GRCh38]
Chr15:52697195 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.839-163_839-159del deletion not provided [RCV001713941] Chr15:52407558..52407562 [GRCh38]
Chr15:52699755..52699759 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.2577+51A>G single nucleotide variant not provided [RCV001648069] Chr15:52375253 [GRCh38]
Chr15:52667450 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.3066+298_3066+299del deletion not provided [RCV001670240] Chr15:52369870..52369871 [GRCh38]
Chr15:52662067..52662068 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.2577+262T>C single nucleotide variant not provided [RCV001708944] Chr15:52375042 [GRCh38]
Chr15:52667239 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.456-192T>A single nucleotide variant not provided [RCV001692815] Chr15:52416493 [GRCh38]
Chr15:52708690 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.3309+225C>T single nucleotide variant not provided [RCV001652521] Chr15:52364329 [GRCh38]
Chr15:52656526 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.613-129dup duplication not provided [RCV001709106] Chr15:52410588..52410589 [GRCh38]
Chr15:52702785..52702786 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.4408+171A>G single nucleotide variant not provided [RCV001670975] Chr15:52336292 [GRCh38]
Chr15:52628489 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.2013-179A>G single nucleotide variant not provided [RCV001645580] Chr15:52380087 [GRCh38]
Chr15:52672284 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.1194T>A (p.Asn398Lys) single nucleotide variant Intellectual disability [RCV001252333] Chr15:52397326 [GRCh38]
Chr15:52689523 [GRCh37]
Chr15:15q21.2
likely benign
GRCh37/hg19 15q21.2-21.3(chr15:51792729-55134365)x1 copy number loss not provided [RCV001259215] Chr15:51792729..55134365 [GRCh37]
Chr15:15q21.2-21.3
likely pathogenic
NM_001382347.1(MYO5A):c.2817+201TTA[14] microsatellite not provided [RCV001540218] Chr15:52371879..52371881 [GRCh38]
Chr15:52664076..52664078 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.4103G>A (p.Arg1368His) single nucleotide variant not provided [RCV001356107] Chr15:52340332 [GRCh38]
Chr15:52632529 [GRCh37]
Chr15:15q21.2
uncertain significance
NM_001382347.1(MYO5A):c.2584C>T (p.Arg862Cys) single nucleotide variant not provided [RCV001355600] Chr15:52372357 [GRCh38]
Chr15:52664554 [GRCh37]
Chr15:15q21.2
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
GRCh37/hg19 15q21.1-21.3(chr15:48744917-53851050)x1 copy number loss not provided [RCV001270659] Chr15:48744917..53851050 [GRCh37]
Chr15:15q21.1-21.3
pathogenic
NM_001382347.1(MYO5A):c.2665A>G (p.Ile889Val) single nucleotide variant not provided [RCV001357906] Chr15:52372276 [GRCh38]
Chr15:52664473 [GRCh37]
Chr15:15q21.2
uncertain significance
NM_001382347.1(MYO5A):c.1144A>G (p.Thr382Ala) single nucleotide variant not provided [RCV001354902] Chr15:52397376 [GRCh38]
Chr15:52689573 [GRCh37]
Chr15:15q21.2
uncertain significance
NM_001382347.1(MYO5A):c.3377T>G (p.Phe1126Cys) single nucleotide variant not provided [RCV001355975] Chr15:52360014 [GRCh38]
Chr15:52652211 [GRCh37]
Chr15:15q21.2
uncertain significance
NM_001382347.1(MYO5A):c.4952-217G>A single nucleotide variant not provided [RCV001539139] Chr15:52319559 [GRCh38]
Chr15:52611756 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.3161-291G>A single nucleotide variant not provided [RCV001643638] Chr15:52364993 [GRCh38]
Chr15:52657190 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.3066+277A>T single nucleotide variant not provided [RCV001541573] Chr15:52369892 [GRCh38]
Chr15:52662089 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.27+191G>C single nucleotide variant not provided [RCV001535097] Chr15:52528589 [GRCh38]
Chr15:52820786 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.3859-314T>A single nucleotide variant not provided [RCV001714709] Chr15:52346775 [GRCh38]
Chr15:52638972 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.1669-167C>G single nucleotide variant not provided [RCV001686417] Chr15:52388079 [GRCh38]
Chr15:52680276 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.456-190T>A single nucleotide variant not provided [RCV001684490] Chr15:52416491 [GRCh38]
Chr15:52708688 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.2578-129A>G single nucleotide variant not provided [RCV001617859] Chr15:52372492 [GRCh38]
Chr15:52664689 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.2421-78A>G single nucleotide variant not provided [RCV001693788] Chr15:52375538 [GRCh38]
Chr15:52667735 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.4800+261T>C single nucleotide variant not provided [RCV001528081] Chr15:52323094 [GRCh38]
Chr15:52615291 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.1053+41_1053+42del deletion not provided [RCV001540456] Chr15:52405245..52405246 [GRCh38]
Chr15:52697442..52697443 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.3959+129A>T single nucleotide variant not provided [RCV001714142] Chr15:52346232 [GRCh38]
Chr15:52638429 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.1053+198TG[17] microsatellite not provided [RCV001678883] Chr15:52405052..52405055 [GRCh38]
Chr15:52697249..52697252 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.3849+133T>A single nucleotide variant not provided [RCV001616798] Chr15:52351121 [GRCh38]
Chr15:52643318 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.1054-109A>G single nucleotide variant not provided [RCV001687496] Chr15:52397575 [GRCh38]
Chr15:52689772 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.947-225A>G single nucleotide variant not provided [RCV001652695] Chr15:52405618 [GRCh38]
Chr15:52697815 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.138+38G>A single nucleotide variant not provided [RCV001530526] Chr15:52433137 [GRCh38]
Chr15:52725334 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.4231G>A (p.Glu1411Lys) single nucleotide variant not provided [RCV001726955] Chr15:52340204 [GRCh38]
Chr15:52632401 [GRCh37]
Chr15:15q21.2
uncertain significance
NM_001382347.1(MYO5A):c.1086A>C (p.Glu362Asp) single nucleotide variant Griscelli syndrome type 1 [RCV001779923] Chr15:52397434 [GRCh38]
Chr15:52689631 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.4028A>G (p.Lys1343Arg) single nucleotide variant not provided [RCV001763833] Chr15:52343129 [GRCh38]
Chr15:52635326 [GRCh37]
Chr15:15q21.2
uncertain significance
NM_001382347.1(MYO5A):c.968T>C (p.Met323Thr) single nucleotide variant not provided [RCV001767782] Chr15:52405372 [GRCh38]
Chr15:52697569 [GRCh37]
Chr15:15q21.2
uncertain significance
NM_001382347.1(MYO5A):c.3008G>T (p.Arg1003Leu) single nucleotide variant not provided [RCV001772912] Chr15:52370227 [GRCh38]
Chr15:52662424 [GRCh37]
Chr15:15q21.2
uncertain significance
NM_001382347.1(MYO5A):c.4000G>C (p.Glu1334Gln) single nucleotide variant not provided [RCV001763295] Chr15:52343157 [GRCh38]
Chr15:52635354 [GRCh37]
Chr15:15q21.2
uncertain significance
NM_001382347.1(MYO5A):c.2828A>G (p.Tyr943Cys) single nucleotide variant not provided [RCV001763834] Chr15:52370407 [GRCh38]
Chr15:52662604 [GRCh37]
Chr15:15q21.2
uncertain significance
NM_001382347.1(MYO5A):c.2526C>T (p.Ile842=) single nucleotide variant Griscelli syndrome type 1 [RCV001779922] Chr15:52375355 [GRCh38]
Chr15:52667552 [GRCh37]
Chr15:15q21.2
benign
NM_001382347.1(MYO5A):c.3740T>C (p.Val1247Ala) single nucleotide variant not provided [RCV001752519] Chr15:52351363 [GRCh38]
Chr15:52643560 [GRCh37]
Chr15:15q21.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7602 AgrOrtholog
COSMIC MYO5A COSMIC
Ensembl Genes ENSG00000197535 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000348693 UniProtKB/Swiss-Prot
  ENSP00000382174 UniProtKB/TrEMBL
  ENSP00000382175 UniProtKB/TrEMBL
  ENSP00000382177 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000382179 ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSP00000451109 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000451178 UniProtKB/TrEMBL
  ENSP00000510312 ENTREZGENE
  ENSP00000510378 ENTREZGENE
Ensembl Transcript ENST00000356338 UniProtKB/Swiss-Prot
  ENST00000399228 UniProtKB/TrEMBL
  ENST00000399229 UniProtKB/TrEMBL
  ENST00000399231 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000399233 ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENST00000553916 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000556196 UniProtKB/TrEMBL
  ENST00000687574 ENTREZGENE
  ENST00000692556 ENTREZGENE
Gene3D-CATH 3.40.850.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000197535 GTEx
HGNC ID HGNC:7602 ENTREZGENE
Human Proteome Map MYO5A Human Proteome Map
InterPro Dilute_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IQ_motif_EF-hand-BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinesin_motor_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myo5a_CBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myosin_head_motor_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myosin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MYSc_Myo5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4644 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4644 ENTREZGENE
OMIM 160777 OMIM
  214450 OMIM
Pfam DIL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myosin_head UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00612 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31407 PharmGKB
PRINTS MYOSINHEAVY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE DILUTE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MYOSIN_MOTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50096 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DIL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MYSc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00015 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8CDT9_HUMAN UniProtKB/TrEMBL
  E7ERV5_HUMAN UniProtKB/TrEMBL
  F8WE88_HUMAN UniProtKB/TrEMBL
  G3V394_HUMAN UniProtKB/TrEMBL
  G3V3C9_HUMAN UniProtKB/TrEMBL
  MYO5A_HUMAN UniProtKB/Swiss-Prot
  Q9UES4 ENTREZGENE, UniProtKB/TrEMBL
  Q9UES5_HUMAN UniProtKB/TrEMBL
  Q9Y4I1 ENTREZGENE
UniProt Secondary A8MZC5 UniProtKB/Swiss-Prot
  O60653 UniProtKB/Swiss-Prot
  Q07902 UniProtKB/Swiss-Prot
  Q16249 UniProtKB/Swiss-Prot
  Q9UE30 UniProtKB/Swiss-Prot
  Q9UE31 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-09-15 MYO5A  myosin VA  MYO5A  myosin VA (heavy chain 12, myoxin)  Symbol and/or name change 5135510 APPROVED