PLA2G6 (phospholipase A2 group VI) - Rat Genome Database

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Gene: PLA2G6 (phospholipase A2 group VI) Homo sapiens
Analyze
Symbol: PLA2G6
Name: phospholipase A2 group VI
RGD ID: 732454
HGNC Page HGNC
Description: Enables identical protein binding activity; palmitoyl-CoA hydrolase activity; and phospholipase activity. Involved in antibacterial humoral response and glycerophospholipid metabolic process. Located in centriolar satellite; cytosol; and extracellular space. Implicated in dystonia 12; neuroaxonal dystrophy; and neurodegenerative disease (multiple). Biomarker of Duchenne muscular dystrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 2-lysophosphatidylcholine acylhydrolase; 85 kDa calcium-independent phospholipase A2; 85/88 kDa calcium-independent phospholipase A2; CaI-PLA2; calcium-independent phospholipase A2; cytosolic, calcium-independent phospholipase A2; group VI phospholipase A2; GVI; GVI PLA2; INAD1; intracellular membrane-associated calcium-independent phospholipase A2 beta; iPLA2; iPLA2-beta; IPLA2-VIA; iPLA2beta; NBIA2; NBIA2A; NBIA2B; neurodegeneration with brain iron accumulation 2; palmitoyl-CoA hydrolase; PARK14; patatin-like phospholipase domain containing 9; patatin-like phospholipase domain-containing protein 9; phospholipase a2, group vi; phospholipase A2, group VI (cytosolic, calcium-independent); PLA2; PNPLA9
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 Ensembl2238,111,495 - 38,214,778 (-)EnsemblGRCh38hg38GRCh38
GRCh382238,111,495 - 38,181,830 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372238,507,502 - 38,577,837 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362236,837,448 - 36,907,707 (-)NCBINCBI36hg18NCBI36
Build 342236,832,002 - 36,902,261NCBI
Celera2222,312,199 - 22,382,453 (-)NCBI
Cytogenetic Map22q13.1NCBI
HuRef2221,473,858 - 21,543,900 (-)NCBIHuRef
CHM1_12238,466,463 - 38,536,813 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(4Z,7Z,10Z,13Z,16Z)-docosa-4,7,10,13,16-pentaenoic acid  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,4',6-tetrachlorobiphenyl  (ISO)
2,6-dinitrotoluene  (ISO)
3'-O-(4-Benzoyl)benzoyl ATP  (EXP)
3,3',5-triiodo-L-thyronine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4-vinylcyclohexene dioxide  (ISO)
acetylsalicylic acid  (EXP)
aflatoxin B1  (EXP)
ammonium chloride  (ISO)
arachidonic acid  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
C60 fullerene  (ISO)
cadmium atom  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
carbon nanotube  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cocaine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
cyproconazole  (ISO)
decabromodiphenyl ether  (ISO)
diarsenic trioxide  (EXP)
diazinon  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
fenvalerate  (ISO)
flutamide  (ISO)
gold atom  (ISO)
gold(0)  (ISO)
hydrogen peroxide  (EXP)
KT 5720  (ISO)
lipopolysaccharide  (ISO)
NAD zwitterion  (EXP)
NAD(+)  (EXP)
p-toluidine  (ISO)
pentanal  (EXP)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phenylephrine  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
resveratrol  (EXP)
sarin  (EXP)
sodium arsenate  (ISO)
sunitinib  (EXP)
tetraphene  (ISO)
thapsigargin  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal autonomic nervous system physiology  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal circulating creatine kinase concentration  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormality of brain morphology  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Abnormality of peripheral nerve conduction  (IAGP)
Abnormality of visual evoked potentials  (IAGP)
Aggressive behavior  (IAGP)
Apneic episodes in infancy  (IAGP)
Apraxia  (IAGP)
Areflexia  (IAGP)
Aspiration pneumonia  (IAGP)
Ataxia  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Blindness  (IAGP)
Bradykinesia  (IAGP)
Bulbar signs  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar gliosis  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral atrophy  (IAGP)
Childhood onset  (IAGP)
Choking episodes  (IAGP)
Chorea  (IAGP)
Clumsiness  (IAGP)
Constipation  (IAGP)
Decreased nerve conduction velocity  (IAGP)
Delayed speech and language development  (IAGP)
Dementia  (IAGP)
Depression  (IAGP)
Developmental regression  (IAGP)
Diffuse axonal swelling  (IAGP)
Downbeat nystagmus  (IAGP)
Drooling  (IAGP)
Dysarthria  (IAGP)
Dysdiadochokinesis  (IAGP)
Dyskinesia  (IAGP)
Dyslexia  (IAGP)
Dysmetria  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
EMG: chronic denervation signs  (IAGP)
Emotional lability  (IAGP)
Eyelid apraxia  (IAGP)
Feeding difficulties  (IAGP)
Flexion contracture  (IAGP)
Focal dystonia  (IAGP)
Frontal bossing  (IAGP)
Frontotemporal cerebral atrophy  (IAGP)
Frontotemporal dementia  (IAGP)
Gait ataxia  (IAGP)
Gait disturbance  (IAGP)
Generalized cerebral atrophy/hypoplasia  (IAGP)
Generalized hypotonia  (IAGP)
Generalized muscle weakness  (IAGP)
Gliosis  (IAGP)
Global brain atrophy  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hyperactivity  (IAGP)
Hyperreflexia  (IAGP)
Hypertonia  (IAGP)
Hypointensity of cerebral white matter on MRI  (IAGP)
Hypometric saccades  (IAGP)
Hypomimic face  (IAGP)
Hypotonia  (IAGP)
Impaired smooth pursuit  (IAGP)
Impulsivity  (IAGP)
Increased circulating lactate dehydrogenase concentration  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intention tremor  (IAGP)
Iron accumulation in brain  (IAGP)
Iron accumulation in globus pallidus  (IAGP)
Lewy bodies  (IAGP)
Mental deterioration  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Morphological abnormality of the pyramidal tract  (IAGP)
Muscular hypotonia of the trunk  (IAGP)
Myoclonus  (IAGP)
Neurodegeneration  (IAGP)
Neurofibrillary tangles  (IAGP)
Neuronal loss in central nervous system  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Paranoia  (IAGP)
Parkinsonism  (IAGP)
Parkinsonism with favorable response to dopaminergic medication  (IAGP)
Pendular nystagmus  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Personality changes  (IAGP)
Postural instability  (IAGP)
Progressive  (IAGP)
Progressive extrapyramidal movement disorder  (IAGP)
Progressive spastic quadriplegia  (IAGP)
Progressive spasticity  (IAGP)
Prominent forehead  (IAGP)
Psychomotor deterioration  (IAGP)
Rapidly progressive  (IAGP)
Rigidity  (IAGP)
Seizure  (IAGP)
Sensorimotor neuropathy  (IAGP)
Short attention span  (IAGP)
Short nose  (IAGP)
Spastic tetraparesis  (IAGP)
Spastic tetraplegia  (IAGP)
Spasticity  (IAGP)
Stiff hip  (IAGP)
Strabismus  (IAGP)
Supranuclear gaze palsy  (IAGP)
Talipes calcaneovalgus  (IAGP)
Temperature instability  (IAGP)
Tetraplegia  (IAGP)
Tremor  (IAGP)
Unsteady gait  (IAGP)
Upgaze palsy  (IAGP)
Vegetative state  (IAGP)
Visual loss  (IAGP)
References

References - curated
1. Blanchard H, etal., Neurochem Res. 2014 Aug;39(8):1522-32. doi: 10.1007/s11064-014-1342-y. Epub 2014 Jun 12.
2. Fevre C, etal., Biochim Biophys Acta. 2011 Jun;1811(6):409-17. Epub 2010 Dec 21.
3. Gilroy DW, etal., FASEB J. 2004 Mar;18(3):489-98.
4. GOA_HUMAN data from the GO Consortium
5. Khateeb S, etal., Am J Hum Genet. 2006 Nov;79(5):942-8. Epub 2006 Sep 19.
6. Lopez-Vales R, etal., Brain. 2008 Oct;131(Pt 10):2620-31. Epub 2008 Aug 21.
7. Lopez-Vales R, etal., FASEB J. 2011 Dec;25(12):4240-52. Epub 2011 Aug 25.
8. OMIM Disease Annotation Pipeline
9. Pipeline to import KEGG annotations from KEGG into RGD
10. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. RGD automated import pipeline for gene-chemical interactions
12. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
13. Shinzawa K, etal., J Neurosci. 2008 Feb 27;28(9):2212-20.
14. Sina F, etal., Eur J Neurol. 2009 Jan;16(1):101-4.
15. Strokin M, etal., Hum Mol Genet. 2012 Apr 4.
16. Tomiyama H, etal., J Hum Genet. 2011 May;56(5):401-3. Epub 2011 Mar 3.
17. Wada H, etal., Am J Pathol. 2009 Dec;175(6):2257-63. Epub 2009 Nov 5.
18. Wu Y, etal., Eur J Neurol. 2009 Feb;16(2):240-5. Epub 2008 Dec 9.
19. Yoshino H, etal., Neurology. 2010 Oct 12;75(15):1356-61.
20. Zhang P, etal., Eur J Neurol. 2013 Feb;20(2):322-30. doi: 10.1111/j.1468-1331.2012.03856.x. Epub 2012 Aug 31.
Additional References at PubMed
PMID:9079687   PMID:9377118   PMID:9417066   PMID:9745929   PMID:10092647   PMID:10336645   PMID:10591208   PMID:11118454   PMID:12208880   PMID:12423354   PMID:12477932   PMID:14634037  
PMID:14702039   PMID:14749286   PMID:15052324   PMID:15249229   PMID:15252038   PMID:15318030   PMID:15342556   PMID:15364929   PMID:15385540   PMID:15461802   PMID:15489334   PMID:15573142  
PMID:15908428   PMID:16344560   PMID:16585943   PMID:16783378   PMID:16799181   PMID:16943248   PMID:16966332   PMID:17003039   PMID:17082190   PMID:17188740   PMID:17254819   PMID:17275398  
PMID:17459165   PMID:18029348   PMID:18208975   PMID:18562188   PMID:18570303   PMID:18676680   PMID:18714013   PMID:18775417   PMID:18790994   PMID:18799783   PMID:18826942   PMID:19029121  
PMID:19059366   PMID:19164547   PMID:19170196   PMID:19225567   PMID:19556238   PMID:19578364   PMID:19578365   PMID:19625176   PMID:19692168   PMID:19913121   PMID:20053941   PMID:20171194  
PMID:20186954   PMID:20219570   PMID:20301334   PMID:20301402   PMID:20301718   PMID:20379614   PMID:20464283   PMID:20584031   PMID:20619503   PMID:20628086   PMID:20629144   PMID:20647408  
PMID:20669327   PMID:20686565   PMID:20813170   PMID:20881058   PMID:20886109   PMID:21191104   PMID:21478494   PMID:21482170   PMID:21700586   PMID:21812034   PMID:21873635   PMID:21983787  
PMID:22213678   PMID:22218592   PMID:22406380   PMID:22459563   PMID:22549787   PMID:22680611   PMID:22903185   PMID:23007400   PMID:23043102   PMID:23074238   PMID:23182313   PMID:23196729  
PMID:23277130   PMID:23447832   PMID:23533611   PMID:23587695   PMID:23824909   PMID:24097068   PMID:24130795   PMID:24512906   PMID:24522175   PMID:24745848   PMID:24791136   PMID:24858037  
PMID:25004092   PMID:25207958   PMID:25342443   PMID:25348461   PMID:25482049   PMID:25668476   PMID:25798074   PMID:26001724   PMID:26160611   PMID:26446356   PMID:26525102   PMID:26668131  
PMID:26755131   PMID:26972000   PMID:27030050   PMID:27196560   PMID:27268037   PMID:27317427   PMID:27513994   PMID:27709683   PMID:27942883   PMID:28091863   PMID:28150298   PMID:28213071  
PMID:28295203   PMID:28611215   PMID:28651698   PMID:28821231   PMID:29325618   PMID:29342349   PMID:29454663   PMID:29472584   PMID:29739362   PMID:29753029   PMID:29909971   PMID:30232368  
PMID:30302010   PMID:30707893   PMID:30772976   PMID:31196701   PMID:31277247   PMID:31492433   PMID:31493991   PMID:31506141   PMID:31689548   PMID:31922589   PMID:32296183   PMID:32513696  
PMID:33080873   PMID:33087576   PMID:34131139  


Genomics

Comparative Map Data
PLA2G6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2238,111,495 - 38,214,778 (-)EnsemblGRCh38hg38GRCh38
GRCh382238,111,495 - 38,181,830 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372238,507,502 - 38,577,837 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362236,837,448 - 36,907,707 (-)NCBINCBI36hg18NCBI36
Build 342236,832,002 - 36,902,261NCBI
Celera2222,312,199 - 22,382,453 (-)NCBI
Cytogenetic Map22q13.1NCBI
HuRef2221,473,858 - 21,543,900 (-)NCBIHuRef
CHM1_12238,466,463 - 38,536,813 (-)NCBICHM1_1
Pla2g6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391579,170,428 - 79,212,915 (-)NCBIGRCm39mm39
GRCm39 Ensembl1579,170,428 - 79,212,590 (-)Ensembl
GRCm381579,286,228 - 79,328,385 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1579,286,228 - 79,328,390 (-)EnsemblGRCm38mm10GRCm38
MGSCv371579,116,658 - 79,158,598 (-)NCBIGRCm37mm9NCBIm37
MGSCv361579,113,483 - 79,155,423 (-)NCBImm8
Celera1581,406,243 - 81,447,891 (-)NCBICelera
Cytogenetic Map15E1NCBI
Pla2g6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27110,851,378 - 110,891,557 (-)NCBImRatBN7.2
Rnor_6.0 Ensembl7120,519,467 - 120,559,347 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07120,519,479 - 120,559,716 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07120,512,621 - 120,553,123 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47117,266,784 - 117,307,172 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17117,301,013 - 117,341,212 (-)NCBI
Celera7107,184,586 - 107,224,721 (-)NCBICelera
Cytogenetic Map7q34NCBI
Pla2g6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541324,429,589 - 24,482,537 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541324,431,592 - 24,482,229 (-)NCBIChiLan1.0ChiLan1.0
PLA2G6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12236,849,794 - 36,930,403 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2236,849,794 - 36,919,509 (-)Ensemblpanpan1.1panPan2
PanPan1.1 Ensembl2236,823,637 - 36,848,824 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02218,998,060 - 19,094,507 (-)NCBIMhudiblu_PPA_v0panPan3
PLA2G6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11026,499,033 - 26,559,533 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1026,509,695 - 26,634,087 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1026,454,462 - 26,514,846 (+)NCBI
ROS_Cfam_1.01027,290,620 - 27,351,106 (+)NCBI
UMICH_Zoey_3.11027,011,336 - 27,071,396 (+)NCBI
UNSW_CanFamBas_1.01027,322,574 - 27,382,942 (+)NCBI
UU_Cfam_GSD_1.01027,499,582 - 27,559,773 (+)NCBI
Pla2g6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494510,001,353 - 10,050,548 (+)NCBI
SpeTri2.0NW_0049364923,011,752 - 3,060,962 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLA2G6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl59,685,214 - 9,777,922 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.159,713,809 - 9,777,921 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.256,996,400 - 7,060,421 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PLA2G6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11920,818,575 - 20,884,243 (-)NCBI
Vero_WHO_p1.0NW_023666045104,880,026 - 104,951,884 (+)NCBI
Pla2g6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247529,792,778 - 9,841,817 (+)NCBI

Position Markers
RH99077  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,507,525 - 38,507,659UniSTSGRCh37
Build 362236,837,471 - 36,837,605RGDNCBI36
Celera2222,312,222 - 22,312,356RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,473,881 - 21,474,015UniSTS
GeneMap99-GB4 RH Map22133.76UniSTS
G49249  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,538,859 - 38,539,238UniSTSGRCh37
Build 362236,868,805 - 36,869,184RGDNCBI36
Celera2222,343,556 - 22,343,935RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,505,215 - 21,505,594UniSTS
G49250  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,560,553 - 38,560,908UniSTSGRCh37
Build 362236,890,499 - 36,890,854RGDNCBI36
Celera2222,365,250 - 22,365,605RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,526,622 - 21,526,977UniSTS
G49251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,563,342 - 38,563,706UniSTSGRCh37
Build 362236,893,288 - 36,893,652RGDNCBI36
Celera2222,368,039 - 22,368,403RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,529,411 - 21,529,775UniSTS
G49252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,568,514 - 38,568,869UniSTSGRCh37
Build 362236,898,460 - 36,898,815RGDNCBI36
Celera2222,373,211 - 22,373,566RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,534,582 - 21,534,937UniSTS
G49253  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,569,067 - 38,569,430UniSTSGRCh37
Build 362236,899,013 - 36,899,376RGDNCBI36
Celera2222,373,764 - 22,374,127RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,535,135 - 21,535,498UniSTS
G49254  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,569,366 - 38,569,719UniSTSGRCh37
Build 362236,899,312 - 36,899,665RGDNCBI36
Celera2222,374,063 - 22,374,416RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,535,434 - 21,535,787UniSTS
G49255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,570,690 - 38,570,991UniSTSGRCh37
Build 362236,900,636 - 36,900,937RGDNCBI36
Celera2222,375,387 - 22,375,688RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,536,758 - 21,537,059UniSTS
G49256  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,570,683 - 38,571,040UniSTSGRCh37
Build 362236,900,629 - 36,900,986RGDNCBI36
Celera2222,375,380 - 22,375,737RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,536,751 - 21,537,108UniSTS
G49257  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,570,727 - 38,571,087UniSTSGRCh37
Build 362236,900,673 - 36,901,033RGDNCBI36
Celera2222,375,424 - 22,375,784RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,536,795 - 21,537,155UniSTS
G49258  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,572,243 - 38,572,630UniSTSGRCh37
Build 362236,902,189 - 36,902,576RGDNCBI36
Celera2222,376,940 - 22,377,327RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,538,311 - 21,538,698UniSTS
G49259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,573,160 - 38,573,411UniSTSGRCh37
Build 362236,903,106 - 36,903,357RGDNCBI36
Celera2222,377,857 - 22,378,108RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,539,230 - 21,539,481UniSTS
G49410  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,563,342 - 38,563,739UniSTSGRCh37
Build 362236,893,288 - 36,893,685RGDNCBI36
Celera2222,368,039 - 22,368,436RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,529,411 - 21,529,808UniSTS
D22S622  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,559,056 - 38,559,195UniSTSGRCh37
Build 362236,889,002 - 36,889,141RGDNCBI36
Celera2222,363,753 - 22,363,892RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,525,125 - 21,525,264UniSTS
AL022554  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,565,681 - 38,565,827UniSTSGRCh37
Build 362236,895,627 - 36,895,773RGDNCBI36
Celera2222,370,378 - 22,370,524RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,531,751 - 21,531,897UniSTS
PLA2G6_1043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,507,495 - 38,508,238UniSTSGRCh37
Build 362236,837,441 - 36,838,184RGDNCBI36
Celera2222,312,192 - 22,312,935RGD
HuRef2221,473,851 - 21,474,594UniSTS
GDB:631802  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p35.3-p33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map3q21-q22UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map2q21UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map20p11.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map2p24.1UniSTS
L17809  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map9q34.13UniSTS
L17877  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map9q21.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map17q25.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9441
Count of miRNA genes:1201
Interacting mature miRNAs:1585
Transcripts:ENST00000332509, ENST00000335539, ENST00000402064, ENST00000417303, ENST00000420435, ENST00000426674, ENST00000427114, ENST00000427453, ENST00000430886, ENST00000435484, ENST00000436218, ENST00000445591, ENST00000447598, ENST00000448094, ENST00000452542, ENST00000452794, ENST00000452972, ENST00000454670, ENST00000455341, ENST00000463287, ENST00000471636, ENST00000479641, ENST00000480154, ENST00000490473, ENST00000491986, ENST00000496409, ENST00000498338, ENST00000594306
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1810 1441 1291 224 988 86 3196 816 2562 181 1256 1238 139 1140 1889 1
Low 628 1545 435 399 961 379 1159 1381 1169 238 201 374 33 1 64 899 3 1
Below cutoff 1 1 1 3 3 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001004426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF064594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF102988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF102989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF115252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL021977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL080187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY522921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE278797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP251849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA290853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA500195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC318003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC376896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC400693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC409316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000332509   ⟹   ENSP00000333142
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,111,495 - 38,181,830 (-)Ensembl
RefSeq Acc Id: ENST00000335539   ⟹   ENSP00000335149
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,111,496 - 38,181,754 (-)Ensembl
RefSeq Acc Id: ENST00000402064   ⟹   ENSP00000386100
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,111,500 - 38,181,829 (-)Ensembl
RefSeq Acc Id: ENST00000417303
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,145,606 - 38,192,100 (-)Ensembl
RefSeq Acc Id: ENST00000420435
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,147,368 - 38,181,829 (-)Ensembl
RefSeq Acc Id: ENST00000426674
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,147,379 - 38,181,783 (-)Ensembl
RefSeq Acc Id: ENST00000427114   ⟹   ENSP00000407743
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,115,548 - 38,168,076 (-)Ensembl
RefSeq Acc Id: ENST00000427453
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,129,518 - 38,140,033 (-)Ensembl
RefSeq Acc Id: ENST00000430886   ⟹   ENSP00000395464
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,140,065 - 38,181,780 (-)Ensembl
RefSeq Acc Id: ENST00000435484
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,145,592 - 38,181,828 (-)Ensembl
RefSeq Acc Id: ENST00000436218   ⟹   ENSP00000401242
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,112,168 - 38,181,842 (-)Ensembl
RefSeq Acc Id: ENST00000445591
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,143,229 - 38,163,672 (-)Ensembl
RefSeq Acc Id: ENST00000447598
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,145,493 - 38,181,808 (-)Ensembl
RefSeq Acc Id: ENST00000448094   ⟹   ENSP00000407106
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,116,094 - 38,135,063 (-)Ensembl
RefSeq Acc Id: ENST00000452542   ⟹   ENSP00000412629
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,129,541 - 38,143,214 (-)Ensembl
RefSeq Acc Id: ENST00000452794
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,126,996 - 38,132,877 (-)Ensembl
RefSeq Acc Id: ENST00000452972
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,143,237 - 38,168,090 (-)Ensembl
RefSeq Acc Id: ENST00000454670   ⟹   ENSP00000413145
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,115,556 - 38,126,442 (-)Ensembl
RefSeq Acc Id: ENST00000455341   ⟹   ENSP00000393761
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,145,624 - 38,180,404 (-)Ensembl
RefSeq Acc Id: ENST00000463287
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,111,872 - 38,112,855 (-)Ensembl
RefSeq Acc Id: ENST00000471636
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,126,371 - 38,181,814 (-)Ensembl
RefSeq Acc Id: ENST00000479641
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,140,134 - 38,168,077 (-)Ensembl
RefSeq Acc Id: ENST00000480154
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,128,161 - 38,129,506 (-)Ensembl
RefSeq Acc Id: ENST00000490473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,123,204 - 38,127,228 (-)Ensembl
RefSeq Acc Id: ENST00000491986
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,120,759 - 38,126,755 (-)Ensembl
RefSeq Acc Id: ENST00000496409
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,113,538 - 38,121,040 (-)Ensembl
RefSeq Acc Id: ENST00000498338   ⟹   ENSP00000472058
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,134,988 - 38,143,494 (-)Ensembl
RefSeq Acc Id: ENST00000594306   ⟹   ENSP00000473160
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,169,275 - 38,205,690 (-)Ensembl
RefSeq Acc Id: ENST00000655142   ⟹   ENSP00000499715
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,111,607 - 38,181,825 (-)Ensembl
RefSeq Acc Id: ENST00000660610   ⟹   ENSP00000499555
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,111,754 - 38,214,778 (-)Ensembl
RefSeq Acc Id: ENST00000663895   ⟹   ENSP00000499712
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,111,495 - 38,181,826 (-)Ensembl
RefSeq Acc Id: ENST00000664587   ⟹   ENSP00000499394
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,111,582 - 38,181,835 (-)Ensembl
RefSeq Acc Id: ENST00000665987   ⟹   ENSP00000499423
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,111,827 - 38,181,830 (-)Ensembl
RefSeq Acc Id: ENST00000667521   ⟹   ENSP00000499665
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,111,831 - 38,181,800 (-)Ensembl
RefSeq Acc Id: ENST00000668208
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,119,017 - 38,181,868 (-)Ensembl
RefSeq Acc Id: ENST00000668499   ⟹   ENSP00000499626
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,111,540 - 38,181,820 (-)Ensembl
RefSeq Acc Id: ENST00000668949   ⟹   ENSP00000499711
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,111,883 - 38,181,707 (-)Ensembl
RefSeq Acc Id: ENST00000671093
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,111,876 - 38,168,077 (-)Ensembl
RefSeq Acc Id: ENST00000673413   ⟹   ENSP00000500600
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2238,111,873 - 38,181,820 (-)Ensembl
RefSeq Acc Id: NM_001004426   ⟹   NP_001004426
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,111,495 - 38,181,830 (-)NCBI
GRCh372238,507,502 - 38,577,857 (-)NCBI
Build 362236,837,448 - 36,907,707 (-)NCBI Archive
HuRef2221,473,858 - 21,543,900 (-)ENTREZGENE
CHM1_12238,466,463 - 38,536,738 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001199562   ⟹   NP_001186491
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,111,495 - 38,181,830 (-)NCBI
GRCh372238,507,502 - 38,577,857 (-)NCBI
HuRef2221,473,858 - 21,543,900 (-)ENTREZGENE
CHM1_12238,466,463 - 38,536,813 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349864   ⟹   NP_001336793
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,111,495 - 38,181,830 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349865   ⟹   NP_001336794
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,111,495 - 38,181,830 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349866   ⟹   NP_001336795
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,111,495 - 38,181,830 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349867   ⟹   NP_001336796
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,111,495 - 38,181,830 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349868   ⟹   NP_001336797
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,111,495 - 38,181,830 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001349869   ⟹   NP_001336798
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,111,495 - 38,181,830 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003560   ⟹   NP_003551
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,111,495 - 38,181,830 (-)NCBI
GRCh372238,507,502 - 38,577,857 (-)NCBI
Build 362236,837,448 - 36,907,707 (-)NCBI Archive
HuRef2221,473,858 - 21,543,900 (-)ENTREZGENE
CHM1_12238,466,463 - 38,536,738 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001186491   ⟸   NM_001199562
- Peptide Label: isoform b
- UniProtKB: O60733 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001004426   ⟸   NM_001004426
- Peptide Label: isoform b
- UniProtKB: O60733 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_003551   ⟸   NM_003560
- Peptide Label: isoform a
- UniProtKB: O60733 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001336797   ⟸   NM_001349868
- Peptide Label: isoform d
- Sequence:
RefSeq Acc Id: NP_001336795   ⟸   NM_001349866
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: NP_001336798   ⟸   NM_001349869
- Peptide Label: isoform e
- Sequence:
RefSeq Acc Id: NP_001336796   ⟸   NM_001349867
- Peptide Label: isoform c
- Sequence:
RefSeq Acc Id: NP_001336794   ⟸   NM_001349865
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: NP_001336793   ⟸   NM_001349864
- Peptide Label: isoform a
- Sequence:
RefSeq Acc Id: ENSP00000500600   ⟸   ENST00000673413
RefSeq Acc Id: ENSP00000499555   ⟸   ENST00000660610
RefSeq Acc Id: ENSP00000333142   ⟸   ENST00000332509
RefSeq Acc Id: ENSP00000412629   ⟸   ENST00000452542
RefSeq Acc Id: ENSP00000407743   ⟸   ENST00000427114
RefSeq Acc Id: ENSP00000335149   ⟸   ENST00000335539
RefSeq Acc Id: ENSP00000499712   ⟸   ENST00000663895
RefSeq Acc Id: ENSP00000499394   ⟸   ENST00000664587
RefSeq Acc Id: ENSP00000413145   ⟸   ENST00000454670
RefSeq Acc Id: ENSP00000393761   ⟸   ENST00000455341
RefSeq Acc Id: ENSP00000499423   ⟸   ENST00000665987
RefSeq Acc Id: ENSP00000386100   ⟸   ENST00000402064
RefSeq Acc Id: ENSP00000499665   ⟸   ENST00000667521
RefSeq Acc Id: ENSP00000499626   ⟸   ENST00000668499
RefSeq Acc Id: ENSP00000499711   ⟸   ENST00000668949
RefSeq Acc Id: ENSP00000499715   ⟸   ENST00000655142
RefSeq Acc Id: ENSP00000472058   ⟸   ENST00000498338
RefSeq Acc Id: ENSP00000395464   ⟸   ENST00000430886
RefSeq Acc Id: ENSP00000407106   ⟸   ENST00000448094
RefSeq Acc Id: ENSP00000401242   ⟸   ENST00000436218
RefSeq Acc Id: ENSP00000473160   ⟸   ENST00000594306
Protein Domains
ANK_REP_REGION   PNPLA

Promoters
RGD ID:6800063
Promoter ID:HG_KWN:42774
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:UC003AUX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362236,840,431 - 36,840,931 (-)MPROMDB
RGD ID:6800236
Promoter ID:HG_KWN:42776
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000321880,   OTTHUMT00000321881,   OTTHUMT00000321885
Position:
Human AssemblyChrPosition (strand)Source
Build 362236,853,171 - 36,853,671 (-)MPROMDB
RGD ID:6800234
Promoter ID:HG_KWN:42781
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000321874,   OTTHUMT00000321876
Position:
Human AssemblyChrPosition (strand)Source
Build 362236,869,271 - 36,869,771 (-)MPROMDB
RGD ID:6800235
Promoter ID:HG_KWN:42783
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000321870
Position:
Human AssemblyChrPosition (strand)Source
Build 362236,889,741 - 36,890,241 (-)MPROMDB
RGD ID:6800233
Promoter ID:HG_KWN:42785
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000321866
Position:
Human AssemblyChrPosition (strand)Source
Build 362236,906,276 - 36,907,187 (-)MPROMDB
RGD ID:6800237
Promoter ID:HG_KWN:42786
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000335538,   ENST00000396860,   NM_001004426,   OTTHUMT00000321860,   OTTHUMT00000321862,   OTTHUMT00000321863,   OTTHUMT00000321865,   OTTHUMT00000321869,   OTTHUMT00000321871,   OTTHUMT00000321872,   OTTHUMT00000321873,   UC003AVA.1,   UC003AVB.2,   UC010GXK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362236,907,551 - 36,908,067 (-)MPROMDB
RGD ID:13604034
Promoter ID:EPDNEW_H28201
Type:initiation region
Name:PLA2G6_1
Description:phospholipase A2 group VI
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,181,830 - 38,181,890EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003560.4(PLA2G6):c.1532T>C (p.Leu511Pro) single nucleotide variant not provided [RCV000519137] Chr22:38123154 [GRCh38]
Chr22:38519161 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.209+6T>C single nucleotide variant not specified [RCV000517165] Chr22:38169212 [GRCh38]
Chr22:38565219 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln) single nucleotide variant PLA2G6-associated neurodegeneration [RCV000779372]|Parkinson disease 14 [RCV000023314] Chr22:38115657 [GRCh38]
Chr22:38511664 [GRCh37]
Chr22:22q13.1
pathogenic|uncertain significance
NM_003560.4(PLA2G6):c.1354C>T (p.Gln452Ter) single nucleotide variant Parkinson disease 14 [RCV000023315] Chr22:38126444 [GRCh38]
Chr22:38522451 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.216C>A (p.Phe72Leu) single nucleotide variant Parkinson disease 14 [RCV000023316] Chr22:38145647 [GRCh38]
Chr22:38541654 [GRCh37]
Chr22:22q13.1
pathogenic
NC_000022.11:g.(38134406_38134454)_(38141038_38141086)del deletion Infantile neuroaxonal dystrophy [RCV000023317] Chr22:38134454..38141038 [GRCh38]
Chr22:38530461..38537045 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000023318]|Iron accumulation in brain [RCV000147282]|not provided [RCV000255026] Chr22:38169318 [GRCh38]
Chr22:38565325 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.991G>T (p.Asp331Tyr) single nucleotide variant Parkinson disease 14 [RCV000023319]|not provided [RCV000498427] Chr22:38132917 [GRCh38]
Chr22:38528924 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) single nucleotide variant Autistic disorder of childhood onset [RCV001250474]|Inborn genetic diseases [RCV000623021]|Infantile neuroaxonal dystrophy [RCV000006572]|Infantile neuroaxonal dystrophy [RCV000763481]|Iron accumulation in brain [RCV000147321]|Neurodegeneration with brain iron accumulation 2b [RCV001333134]|PLA2G6-associated neurodegeneration [RCV000778661]|not provided [RCV000323935] Chr22:38112212 [GRCh38]
Chr22:38508219 [GRCh37]
Chr22:22q13.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr) single nucleotide variant Congenital cerebellar hypoplasia [RCV001003639]|Neurodegeneration with brain iron accumulation 2b [RCV000006573] Chr22:38120867 [GRCh38]
Chr22:38516874 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.929T>A (p.Val310Glu) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000006574] Chr22:38132979 [GRCh38]
Chr22:38528986 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del) deletion Infantile neuroaxonal dystrophy [RCV000006575]|Iron accumulation in brain [RCV000147311]|Neurodegeneration with brain iron accumulation 2b [RCV000761526]|Neurodegeneration with brain iron accumulation [RCV001523781]|not provided [RCV000480455] Chr22:38113617..38113619 [GRCh38]
Chr22:38509624..38509626 [GRCh37]
Chr22:22q13.1
pathogenic|conflicting interpretations of pathogenicity
NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp) single nucleotide variant Karak syndrome [RCV000006576]|not provided [RCV001092011] Chr22:38115667 [GRCh38]
Chr22:38511674 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer) deletion Infantile neuroaxonal dystrophy [RCV000006578]|Iron accumulation in brain [RCV000147322]|Neurodegeneration with brain iron accumulation 2b [RCV000006579]|not provided [RCV000255768] Chr22:38112211..38112212 [GRCh38]
Chr22:38508218..38508219 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000535771]|Infantile neuroaxonal dystrophy [RCV000660638]|Neurodegeneration with brain iron accumulation 2b [RCV000006580] Chr22:38145625 [GRCh38]
Chr22:38541632 [GRCh37]
Chr22:22q13.1
pathogenic|uncertain significance
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000811054]|Neurodegeneration with brain iron accumulation 2b [RCV001251187]|Parkinson disease 14 [RCV000006581] Chr22:38112558 [GRCh38]
Chr22:38508565 [GRCh37]
Chr22:22q13.1
pathogenic|likely pathogenic
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000763482]|Parkinson disease 14 [RCV000006582]|not provided [RCV001268312] Chr22:38112541 [GRCh38]
Chr22:38508548 [GRCh37]
Chr22:22q13.1
pathogenic|likely pathogenic
NM_003560.4(PLA2G6):c.1381C>T (p.Arg461Trp) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000546754] Chr22:38126417 [GRCh38]
Chr22:38522424 [GRCh37]
Chr22:22q13.1
uncertain significance
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(chr22:36859030-39236985)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051366]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051366]|See cases [RCV000051366] Chr22:36859030..39236985 [GRCh38]
Chr22:37255072..39632990 [GRCh37]
Chr22:35585018..37962936 [NCBI36]
Chr22:22q12.3-13.1
pathogenic
GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1 copy number loss See cases [RCV000051367] Chr22:37721777..38886664 [GRCh38]
Chr22:38117784..39282669 [GRCh37]
Chr22:36447730..37612615 [NCBI36]
Chr22:22q13.1
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3 copy number gain See cases [RCV000051685] Chr22:37721797..40860953 [GRCh38]
Chr22:38117804..41256957 [GRCh37]
Chr22:36447750..39586903 [NCBI36]
Chr22:22q13.1-13.2
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
NM_003560.2(PLA2G6):c.2293G>A (p.Gly765Arg) single nucleotide variant Malignant melanoma [RCV000072966] Chr22:38112289 [GRCh38]
Chr22:38508296 [GRCh37]
Chr22:36838242 [NCBI36]
Chr22:22q13.1
not provided
NM_003560.2(PLA2G6):c.2127C>T (p.Phe709=) single nucleotide variant Malignant melanoma [RCV000072967] Chr22:38113562 [GRCh38]
Chr22:38509569 [GRCh37]
Chr22:36839515 [NCBI36]
Chr22:22q13.1
not provided
NM_003560.4(PLA2G6):c.355A>C (p.Ser119Arg) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000660375] Chr22:38145508 [GRCh38]
Chr22:38541515 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.395G>A (p.Arg132His) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001361193]|not provided [RCV001358442] Chr22:38145468 [GRCh38]
Chr22:38541475 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.211C>T (p.Leu71Phe) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001362621] Chr22:38145652 [GRCh38]
Chr22:38541659 [GRCh37]
Chr22:22q13.1
uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
NM_003560.4(PLA2G6):c.1019_1025del (p.Gly340fs) deletion Inborn genetic diseases [RCV000190729] Chr22:38132883..38132889 [GRCh38]
Chr22:38528890..38528896 [GRCh37]
Chr22:22q13.1
pathogenic|likely pathogenic
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000385486]|PLA2G6-associated neurodegeneration [RCV001094820]|not specified [RCV000147279] Chr22:38132881 [GRCh38]
Chr22:38528888 [GRCh37]
Chr22:22q13.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_003560.4(PLA2G6):c.1058C>T (p.Pro353Leu) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001364740]|Iron accumulation in brain [RCV000147280] Chr22:38132850 [GRCh38]
Chr22:38528857 [GRCh37]
Chr22:22q13.1
likely pathogenic|uncertain significance
NM_003560.4(PLA2G6):c.1086C>T (p.Asn362=) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001518068]|PLA2G6-associated neurodegeneration [RCV000319306]|not specified [RCV000147281] Chr22:38129554 [GRCh38]
Chr22:38525561 [GRCh37]
Chr22:22q13.1
benign|likely benign
NM_003560.4(PLA2G6):c.1117G>A (p.Gly373Arg) single nucleotide variant Inborn genetic diseases [RCV001266410]|Infantile neuroaxonal dystrophy [RCV000199765]|Iron accumulation in brain [RCV000147283] Chr22:38129523 [GRCh38]
Chr22:38525530 [GRCh37]
Chr22:22q13.1
pathogenic|likely pathogenic
NM_003560.4(PLA2G6):c.1348+9C>T single nucleotide variant Iron accumulation in brain [RCV000147284] Chr22:38128260 [GRCh38]
Chr22:38524267 [GRCh37]
Chr22:22q13.1
uncertain significance
NC_000022.10:g.38522454delG deletion Infantile neuroaxonal dystrophy [RCV001382840]|Iron accumulation in brain [RCV000147285] Chr22:38126447 [GRCh38]
Chr22:38522454 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.1442T>A (p.Leu481Gln) single nucleotide variant Iron accumulation in brain [RCV000147286]|Neurodegeneration with brain iron accumulation 2b [RCV000995605] Chr22:38123244 [GRCh38]
Chr22:38519251 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.1489C>T (p.Leu497Phe) single nucleotide variant Iron accumulation in brain [RCV000147287] Chr22:38123197 [GRCh38]
Chr22:38519204 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000679861]|Iron accumulation in brain [RCV000147288] Chr22:38123185 [GRCh38]
Chr22:38519192 [GRCh37]
Chr22:22q13.1
pathogenic|uncertain significance
NM_003560.4(PLA2G6):c.1509del (p.Ser504fs) deletion Iron accumulation in brain [RCV000147289] Chr22:38123177 [GRCh38]
Chr22:38519184 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.1573G>A (p.Ala525Thr) single nucleotide variant Iron accumulation in brain [RCV000147290] Chr22:38123113 [GRCh38]
Chr22:38519120 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1591+11C>A single nucleotide variant Iron accumulation in brain [RCV000147291] Chr22:38123084 [GRCh38]
Chr22:38519091 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1591+8C>T single nucleotide variant Iron accumulation in brain [RCV000147292] Chr22:38123087 [GRCh38]
Chr22:38519094 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1612C>T (p.Arg538Cys) single nucleotide variant Iron accumulation in brain [RCV000147293] Chr22:38120889 [GRCh38]
Chr22:38516896 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.1613G>A (p.Arg538His) single nucleotide variant Iron accumulation in brain [RCV000147294]|not provided [RCV000412963] Chr22:38120888 [GRCh38]
Chr22:38516895 [GRCh37]
Chr22:22q13.1
pathogenic|likely pathogenic
NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000765649]|Infantile neuroaxonal dystrophy [RCV000811515]|Iron accumulation in brain [RCV000147295]|PLA2G6-associated neurodegeneration [RCV001144627]|not provided [RCV001288670] Chr22:38120886 [GRCh38]
Chr22:38516893 [GRCh37]
Chr22:22q13.1
likely benign|uncertain significance
NM_003560.4(PLA2G6):c.1634A>G (p.Lys545Arg) single nucleotide variant Iron accumulation in brain [RCV000147296] Chr22:38120867 [GRCh38]
Chr22:38516874 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.1674del (p.Leu560fs) deletion Iron accumulation in brain [RCV000147297] Chr22:38120827 [GRCh38]
Chr22:38516834 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.1699G>A (p.Glu567Lys) single nucleotide variant Iron accumulation in brain [RCV000147298] Chr22:38120802 [GRCh38]
Chr22:38516809 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.1725G>A (p.Thr575=) single nucleotide variant Iron accumulation in brain [RCV000147299]|PLA2G6-associated neurodegeneration [RCV000303071]|not provided [RCV000952288] Chr22:38120776 [GRCh38]
Chr22:38516783 [GRCh37]
Chr22:22q13.1
likely benign|uncertain significance
NM_003560.4(PLA2G6):c.172G>A (p.Val58Ile) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000872033]|not specified [RCV000147300] Chr22:38169255 [GRCh38]
Chr22:38565262 [GRCh37]
Chr22:22q13.1
benign
NM_003560.4(PLA2G6):c.1742+12C>T single nucleotide variant PLA2G6-associated neurodegeneration [RCV000264337]|not specified [RCV000147301] Chr22:38120747 [GRCh38]
Chr22:38516754 [GRCh37]
Chr22:22q13.1
benign|likely benign
NM_003560.4(PLA2G6):c.1754C>T (p.Thr585Ile) single nucleotide variant Iron accumulation in brain [RCV000147302] Chr22:38116200 [GRCh38]
Chr22:38512207 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) single nucleotide variant Inborn genetic diseases [RCV000624119]|Iron accumulation in brain [RCV000147303]|Neurodegeneration with brain iron accumulation 2b [RCV000578256]|not provided [RCV000413569] Chr22:38116155 [GRCh38]
Chr22:38512162 [GRCh37]
Chr22:22q13.1
pathogenic|likely pathogenic
NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000680170]|Iron accumulation in brain [RCV000147304]|PLA2G6-associated neurodegeneration [RCV000600346]|not provided [RCV000313731] Chr22:38115658 [GRCh38]
Chr22:38511665 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.1973A>C (p.Asn658Thr) single nucleotide variant Iron accumulation in brain [RCV000147305] Chr22:38115588 [GRCh38]
Chr22:38511595 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.1978C>T (p.Pro660Ser) single nucleotide variant Iron accumulation in brain [RCV000147306] Chr22:38115583 [GRCh38]
Chr22:38511590 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.2030G>T (p.Arg677Leu) single nucleotide variant Iron accumulation in brain [RCV000147307]|PLA2G6-associated neurodegeneration [RCV001150735] Chr22:38115531 [GRCh38]
Chr22:38511538 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.2068G>A (p.Val690Ile) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000821691]|Iron accumulation in brain [RCV000147309]|PLA2G6-associated neurodegeneration [RCV001149230]|not provided [RCV000512748] Chr22:38113621 [GRCh38]
Chr22:38509628 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.2(PLA2G6):c.2068_2070delGTT (p.Val691del) deletion Iron accumulation in brain [RCV000147310] Chr22:38113619..38113621 [GRCh38]
Chr22:38509626..38509628 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.2(PLA2G6):c.2070_2072delTGT (p.Val691del) deletion Iron accumulation in brain [RCV000147311] Chr22:38113617..38113619 [GRCh38]
Chr22:38509624..38509626 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.2071G>A (p.Val691Ile) single nucleotide variant Iron accumulation in brain [RCV000147312] Chr22:38113618 [GRCh38]
Chr22:38509625 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter) single nucleotide variant Iron accumulation in brain [RCV000147313] Chr22:38113591 [GRCh38]
Chr22:38509598 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000537119]|Iron accumulation in brain [RCV000147314] Chr22:38113561 [GRCh38]
Chr22:38509568 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.2202+5G>A single nucleotide variant Iron accumulation in brain [RCV000147315]|PLA2G6-associated neurodegeneration [RCV001095728] Chr22:38113482 [GRCh38]
Chr22:38509489 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000793778]|Iron accumulation in brain [RCV000147316]|PLA2G6-associated neurodegeneration [RCV000778662]|not provided [RCV000254887] Chr22:38112565 [GRCh38]
Chr22:38508572 [GRCh37]
Chr22:22q13.1
pathogenic|uncertain significance
NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp) single nucleotide variant Iron accumulation in brain [RCV000147317]|Neurodegeneration with brain iron accumulation 2b [RCV000985141] Chr22:38112547 [GRCh38]
Chr22:38508554 [GRCh37]
Chr22:22q13.1
pathogenic|likely pathogenic
NM_003560.4(PLA2G6):c.2246G>C (p.Trp749Ser) single nucleotide variant Iron accumulation in brain [RCV000147318]|not provided [RCV000489829] Chr22:38112534 [GRCh38]
Chr22:38508541 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.2327_2328del (p.Thr776fs) microsatellite Iron accumulation in brain [RCV000147319] Chr22:38112254..38112255 [GRCh38]
Chr22:38508261..38508262 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.2340C>T (p.Asn780=) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000344059]|PLA2G6-associated neurodegeneration [RCV001094906]|not provided [RCV000658941]|not specified [RCV000147320] Chr22:38112242 [GRCh38]
Chr22:38508249 [GRCh37]
Chr22:22q13.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003560.2(PLA2G6):c.2370_2371delTG (p.Tyr790Terfs) deletion Iron accumulation in brain [RCV000147322] Chr22:38112211..38112212 [GRCh38]
Chr22:38508218..38508219 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.2396T>A (p.Leu799His) single nucleotide variant Iron accumulation in brain [RCV000147323] Chr22:38112186 [GRCh38]
Chr22:38508193 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) single nucleotide variant Inborn genetic diseases [RCV000623680]|Infantile neuroaxonal dystrophy [RCV001270755]|Iron accumulation in brain [RCV000147324]|not provided [RCV000414098] Chr22:38145477 [GRCh38]
Chr22:38541484 [GRCh37]
Chr22:22q13.1
likely pathogenic|uncertain significance
NM_003560.4(PLA2G6):c.39C>T (p.Gly13=) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000960418]|not specified [RCV000147325] Chr22:38169388 [GRCh38]
Chr22:38565395 [GRCh37]
Chr22:22q13.1
benign|likely benign
NM_003560.4(PLA2G6):c.478T>C (p.Cys160Arg) single nucleotide variant Iron accumulation in brain [RCV000147326] Chr22:38143236 [GRCh38]
Chr22:38539243 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.495G>C (p.Gly165=) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000873528]|Iron accumulation in brain [RCV000147327] Chr22:38143219 [GRCh38]
Chr22:38539226 [GRCh37]
Chr22:22q13.1
benign|uncertain significance
NM_003560.4(PLA2G6):c.4C>A (p.Gln2Lys) single nucleotide variant Iron accumulation in brain [RCV000147328] Chr22:38169423 [GRCh38]
Chr22:38565430 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.517C>T (p.Gln173Ter) single nucleotide variant Iron accumulation in brain [RCV000147329] Chr22:38143197 [GRCh38]
Chr22:38539204 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.658G>C (p.Gly220Arg) single nucleotide variant Iron accumulation in brain [RCV000147330] Chr22:38140121 [GRCh38]
Chr22:38536128 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.673C>T (p.His225Tyr) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001382688]|Iron accumulation in brain [RCV000147331]|not provided [RCV000484666] Chr22:38140106 [GRCh38]
Chr22:38536113 [GRCh37]
Chr22:22q13.1
pathogenic|likely pathogenic
NM_003560.4(PLA2G6):c.68G>A (p.Arg23Gln) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001321701]|Iron accumulation in brain [RCV000147332] Chr22:38169359 [GRCh38]
Chr22:38565366 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.729_740del (p.Ala244_Asn247del) deletion Iron accumulation in brain [RCV000147333] Chr22:38140039..38140050 [GRCh38]
Chr22:38536046..38536057 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.755del (p.Asn252fs) deletion Iron accumulation in brain [RCV000147334] Chr22:38140024 [GRCh38]
Chr22:38536031 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.786C>T (p.Phe262=) single nucleotide variant Iron accumulation in brain [RCV000147335] Chr22:38139993 [GRCh38]
Chr22:38536000 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.821T>G (p.Met274Arg) single nucleotide variant Iron accumulation in brain [RCV000147336] Chr22:38135061 [GRCh38]
Chr22:38531068 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.87G>A (p.Val29=) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000299100]|PLA2G6-associated neurodegeneration [RCV001094774]|not specified [RCV000147337] Chr22:38169340 [GRCh38]
Chr22:38565347 [GRCh37]
Chr22:22q13.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_003560.4(PLA2G6):c.957G>A (p.Thr319=) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001518069]|PLA2G6-associated neurodegeneration [RCV000288433]|not specified [RCV000147338] Chr22:38132951 [GRCh38]
Chr22:38528958 [GRCh37]
Chr22:22q13.1
benign|likely benign
NM_003560.4(PLA2G6):c.972G>A (p.Ala324=) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000389804]|PLA2G6-associated neurodegeneration [RCV001094822]|not provided [RCV000513451]|not specified [RCV000147339] Chr22:38132936 [GRCh38]
Chr22:38528943 [GRCh37]
Chr22:22q13.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003560.4(PLA2G6):c.986G>A (p.Arg329His) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000995606]|Iron accumulation in brain [RCV000147340]|not provided [RCV000997929] Chr22:38132922 [GRCh38]
Chr22:38528929 [GRCh37]
Chr22:22q13.1
pathogenic|likely pathogenic
NM_003560.4(PLA2G6):c.994T>C (p.Cys332Arg) single nucleotide variant Iron accumulation in brain [RCV000147341] Chr22:38132914 [GRCh38]
Chr22:38528921 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.2066T>G (p.Ile689Ser) single nucleotide variant Iron accumulation in brain [RCV000147308] Chr22:38113623 [GRCh38]
Chr22:38509630 [GRCh37]
Chr22:22q13.1
uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1 copy number loss See cases [RCV000141783] Chr22:37447222..39103680 [GRCh38]
Chr22:37843259..39499685 [GRCh37]
Chr22:36173205..37829631 [NCBI36]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.1911del (p.Ser637fs) deletion Neurodegeneration with brain iron accumulation [RCV000162123] Chr22:38115650 [GRCh38]
Chr22:38511657 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.1349-2A>G single nucleotide variant Neurodegeneration with brain iron accumulation 2b [RCV000195256] Chr22:38126451 [GRCh38]
Chr22:38522458 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.945_947dup (p.Ala316dup) duplication Neurodegeneration with brain iron accumulation 2b [RCV000193975] Chr22:38132960..38132961 [GRCh38]
Chr22:38528967..38528968 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001078629]|PLA2G6-associated neurodegeneration [RCV001149228]|not provided [RCV000874967]|not specified [RCV000193114] Chr22:38112165 [GRCh38]
Chr22:38508172 [GRCh37]
Chr22:22q13.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_003560.4(PLA2G6):c.*19C>T single nucleotide variant not specified [RCV000194041] Chr22:38112142 [GRCh38]
Chr22:38508149 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.2364C>T (p.Tyr788=) single nucleotide variant not specified [RCV000195179] Chr22:38112218 [GRCh38]
Chr22:38508225 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001382039]|not provided [RCV000266508] Chr22:38132831 [GRCh38]
Chr22:38528838 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.208C>T (p.Arg70Ter) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001205763]|not provided [RCV000255422] Chr22:38169219 [GRCh38]
Chr22:38565226 [GRCh37]
Chr22:22q13.1
pathogenic
GRCh37/hg19 22q12.3-13.1(chr22:37090025-39601950)x3 copy number gain See cases [RCV000446037] Chr22:37090025..39601950 [GRCh37]
Chr22:22q12.3-13.1
uncertain significance
NM_003560.4(PLA2G6):c.1428-5T>G single nucleotide variant Infantile neuroaxonal dystrophy [RCV000557056] Chr22:38123263 [GRCh38]
Chr22:38519270 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.3G>T (p.Met1Ile) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000578770] Chr22:38169424 [GRCh38]
Chr22:38565431 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.898G>A (p.Ala300Thr) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000765650]|PLA2G6-associated neurodegeneration [RCV000345705]|not provided [RCV000224530] Chr22:38133010 [GRCh38]
Chr22:38529017 [GRCh37]
Chr22:22q13.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003560.4(PLA2G6):c.1547_1548dup (p.Gly517fs) duplication Infantile neuroaxonal dystrophy [RCV000626237]|not provided [RCV001092014] Chr22:38123137..38123138 [GRCh38]
Chr22:38519144..38519145 [GRCh37]
Chr22:22q13.1
pathogenic|likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_003560.4(PLA2G6):c.1424G>A (p.Arg475Gln) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000689908]|not provided [RCV000487504] Chr22:38126374 [GRCh38]
Chr22:38522381 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000853336]|not provided [RCV000255821] Chr22:38112559 [GRCh38]
Chr22:38508566 [GRCh37]
Chr22:22q13.1
pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
NM_003560.4(PLA2G6):c.266C>A (p.Ser89Tyr) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001473715]|PLA2G6-associated neurodegeneration [RCV000305035]|not provided [RCV000487773] Chr22:38145597 [GRCh38]
Chr22:38541604 [GRCh37]
Chr22:22q13.1
likely benign|uncertain significance
NM_003560.4(PLA2G6):c.*541C>T single nucleotide variant PLA2G6-associated neurodegeneration [RCV000278417] Chr22:38111620 [GRCh38]
Chr22:38507627 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.-15C>T single nucleotide variant PLA2G6-associated neurodegeneration [RCV000356135] Chr22:38169441 [GRCh38]
Chr22:38565448 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.773C>T (p.Ser258Leu) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001244972]|PLA2G6-associated neurodegeneration [RCV000310784] Chr22:38140006 [GRCh38]
Chr22:38536013 [GRCh37]
Chr22:22q13.1
likely benign|uncertain significance
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000765652]|Infantile neuroaxonal dystrophy [RCV001303294]|PLA2G6-associated neurodegeneration [RCV000362034]|not provided [RCV000512651]|not specified [RCV000518740] Chr22:38169326 [GRCh38]
Chr22:38565333 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1414G>A (p.Asp472Asn) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001216577]|PLA2G6-associated neurodegeneration [RCV000315826]|not provided [RCV001171727] Chr22:38126384 [GRCh38]
Chr22:38522391 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1945C>T (p.Arg649Cys) single nucleotide variant PLA2G6-associated neurodegeneration [RCV000366004] Chr22:38115616 [GRCh38]
Chr22:38511623 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.*301G>A single nucleotide variant PLA2G6-associated neurodegeneration [RCV000282083] Chr22:38111860 [GRCh38]
Chr22:38507867 [GRCh37]
Chr22:22q13.1
benign|uncertain significance
NM_003560.4(PLA2G6):c.1267G>A (p.Ala423Thr) single nucleotide variant PLA2G6-associated neurodegeneration [RCV000372832]|not provided [RCV000584848] Chr22:38128350 [GRCh38]
Chr22:38524357 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.*183_*187del deletion Infantile neuroaxonal dystrophy [RCV000401174] Chr22:38111974..38111978 [GRCh38]
Chr22:38507981..38507985 [GRCh37]
Chr22:22q13.1
likely benign
NM_003560.4(PLA2G6):c.*589C>G single nucleotide variant PLA2G6-associated neurodegeneration [RCV000284289] Chr22:38111572 [GRCh38]
Chr22:38507579 [GRCh37]
Chr22:22q13.1
likely benign|uncertain significance
NM_003560.4(PLA2G6):c.*548C>G single nucleotide variant PLA2G6-associated neurodegeneration [RCV000379817] Chr22:38111613 [GRCh38]
Chr22:38507620 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.-31C>T single nucleotide variant PLA2G6-associated neurodegeneration [RCV000330592] Chr22:38169457 [GRCh38]
Chr22:38565464 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.995G>C (p.Cys332Ser) single nucleotide variant PLA2G6-associated neurodegeneration [RCV000293529] Chr22:38132913 [GRCh38]
Chr22:38528920 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.2259C>T (p.Val753=) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000392373]|PLA2G6-associated neurodegeneration [RCV001094907] Chr22:38112521 [GRCh38]
Chr22:38508528 [GRCh37]
Chr22:22q13.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003560.4(PLA2G6):c.439G>A (p.Ala147Thr) single nucleotide variant PLA2G6-associated neurodegeneration [RCV000391610]|not provided [RCV000992630] Chr22:38143275 [GRCh38]
Chr22:38539282 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.441G>A (p.Ala147=) single nucleotide variant PLA2G6-associated neurodegeneration [RCV000340020] Chr22:38143273 [GRCh38]
Chr22:38539280 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.91G>A (p.Asp31Asn) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000260236]|Infantile neuroaxonal dystrophy [RCV000765653]|PLA2G6-associated neurodegeneration [RCV001094773]|not provided [RCV000762074] Chr22:38169336 [GRCh38]
Chr22:38565343 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1205T>A (p.Ile402Asn) single nucleotide variant PLA2G6-associated neurodegeneration [RCV000261821] Chr22:38128412 [GRCh38]
Chr22:38524419 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.895-11G>A single nucleotide variant PLA2G6-associated neurodegeneration [RCV000399484] Chr22:38133024 [GRCh38]
Chr22:38529031 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.*350C>A single nucleotide variant PLA2G6-associated neurodegeneration [RCV000400315] Chr22:38111811 [GRCh38]
Chr22:38507818 [GRCh37]
Chr22:22q13.1
benign|likely benign
NM_003560.4(PLA2G6):c.-20C>A single nucleotide variant PLA2G6-associated neurodegeneration [RCV000263631] Chr22:38169446 [GRCh38]
Chr22:38565453 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1531C>G (p.Leu511Val) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000267667]|PLA2G6-associated neurodegeneration [RCV001094768] Chr22:38123155 [GRCh38]
Chr22:38519162 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.990C>T (p.Phe330=) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000351524]|PLA2G6-associated neurodegeneration [RCV001094821] Chr22:38132918 [GRCh38]
Chr22:38528925 [GRCh37]
Chr22:22q13.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003560.4(PLA2G6):c.416G>A (p.Arg139His) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000765651]|Infantile neuroaxonal dystrophy [RCV001083799]|PLA2G6-associated neurodegeneration [RCV001150840]|not provided [RCV000585504] Chr22:38145447 [GRCh38]
Chr22:38541454 [GRCh37]
Chr22:22q13.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003560.4(PLA2G6):c.*160T>C single nucleotide variant PLA2G6-associated neurodegeneration [RCV000314953] Chr22:38112001 [GRCh38]
Chr22:38508008 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.*191C>T single nucleotide variant PLA2G6-associated neurodegeneration [RCV000348792] Chr22:38111970 [GRCh38]
Chr22:38507977 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.*473C>T single nucleotide variant PLA2G6-associated neurodegeneration [RCV000335917] Chr22:38111688 [GRCh38]
Chr22:38507695 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.-129C>T single nucleotide variant PLA2G6-associated neurodegeneration [RCV000387379] Chr22:38181747 [GRCh38]
Chr22:38577754 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1187-5A>G single nucleotide variant not provided [RCV000585173] Chr22:38128435 [GRCh38]
Chr22:38524442 [GRCh37]
Chr22:22q13.1
conflicting interpretations of pathogenicity|uncertain significance
NM_003560.4(PLA2G6):c.2035G>A (p.Gly679Ser) single nucleotide variant PLA2G6-associated neurodegeneration [RCV000308936] Chr22:38113654 [GRCh38]
Chr22:38509661 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.*565C>G single nucleotide variant PLA2G6-associated neurodegeneration [RCV000322992] Chr22:38111596 [GRCh38]
Chr22:38507603 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1648C>T (p.Arg550Trp) single nucleotide variant PLA2G6-associated neurodegeneration [RCV000359996] Chr22:38120853 [GRCh38]
Chr22:38516860 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1985T>C (p.Leu662Pro) single nucleotide variant Inborn genetic diseases [RCV000624135] Chr22:38115576 [GRCh38]
Chr22:38511583 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.2277-2A>C single nucleotide variant Infantile neuroaxonal dystrophy [RCV000815114]|not provided [RCV000599329] Chr22:38112307 [GRCh38]
Chr22:38508314 [GRCh37]
Chr22:22q13.1
likely pathogenic|uncertain significance
NM_003560.4(PLA2G6):c.16C>T (p.Arg6Cys) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000764385]|Infantile neuroaxonal dystrophy [RCV001231034]|PLA2G6-associated neurodegeneration [RCV001144725]|not provided [RCV000584924] Chr22:38169411 [GRCh38]
Chr22:38565418 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.209G>A (p.Arg70Gln) single nucleotide variant PLA2G6-associated neurodegeneration [RCV001144722]|not provided [RCV000416070] Chr22:38169218 [GRCh38]
Chr22:38565225 [GRCh37]
Chr22:22q13.1
uncertain significance
Single allele deletion Infantile neuroaxonal dystrophy [RCV000414802] Chr22:38565225..38565478 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.1979C>G (p.Pro660Arg) single nucleotide variant not provided [RCV000412988] Chr22:38115582 [GRCh38]
Chr22:38511589 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His) single nucleotide variant Abnormality of brain morphology [RCV000454205]|Infantile neuroaxonal dystrophy [RCV000804046] Chr22:38113560 [GRCh38]
Chr22:38509567 [GRCh37]
Chr22:22q13.1
likely pathogenic|uncertain significance
NM_003560.4(PLA2G6):c.1640A>G (p.Glu547Gly) single nucleotide variant Abnormality of brain morphology [RCV000454298] Chr22:38120861 [GRCh38]
Chr22:38516868 [GRCh37]
Chr22:22q13.1
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.1(chr22:38322968-38965458) copy number gain See cases [RCV000447478] Chr22:38322968..38965458 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.1501G>A (p.Glu501Lys) single nucleotide variant not provided [RCV000425006] Chr22:38123185 [GRCh38]
Chr22:38519192 [GRCh37]
Chr22:22q13.1
pathogenic|likely pathogenic
NM_003560.4(PLA2G6):c.404T>C (p.Phe135Ser) single nucleotide variant not provided [RCV000426257] Chr22:38145459 [GRCh38]
Chr22:38541466 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.1039G>A (p.Gly347Arg) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000680067] Chr22:38132869 [GRCh38]
Chr22:38528876 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1592-2A>C single nucleotide variant Infantile neuroaxonal dystrophy [RCV000680069] Chr22:38120911 [GRCh38]
Chr22:38516918 [GRCh37]
Chr22:22q13.1
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_003560.4(PLA2G6):c.470A>C (p.His157Pro) single nucleotide variant not provided [RCV000484058] Chr22:38143244 [GRCh38]
Chr22:38539251 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.1591+5G>C single nucleotide variant not provided [RCV000478946] Chr22:38123090 [GRCh38]
Chr22:38519097 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.1993A>G (p.Met665Val) single nucleotide variant not specified [RCV000504488] Chr22:38115568 [GRCh38]
Chr22:38511575 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1743-1G>C single nucleotide variant Infantile neuroaxonal dystrophy [RCV000502251] Chr22:38116212 [GRCh38]
Chr22:38512219 [GRCh37]
Chr22:22q13.1
pathogenic|likely pathogenic
NM_003560.4(PLA2G6):c.1427+1G>A single nucleotide variant Infantile neuroaxonal dystrophy [RCV000500147]|Infantile neuroaxonal dystrophy [RCV000763483] Chr22:38126370 [GRCh38]
Chr22:38522377 [GRCh37]
Chr22:22q13.1
pathogenic|likely pathogenic
NM_003560.4(PLA2G6):c.1506G>C (p.Lys502Asn) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001329713]|Neurodegeneration with brain iron accumulation 2b [RCV000502668] Chr22:38123180 [GRCh38]
Chr22:38519187 [GRCh37]
Chr22:22q13.1
likely pathogenic|uncertain significance
NM_003560.4(PLA2G6):c.298C>T (p.Gln100Ter) single nucleotide variant not provided [RCV000498365] Chr22:38145565 [GRCh38]
Chr22:38541572 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.1976A>G (p.Asn659Ser) single nucleotide variant Neurodegeneration with brain iron accumulation 2b [RCV000500906] Chr22:38115585 [GRCh38]
Chr22:38511592 [GRCh37]
Chr22:22q13.1
likely pathogenic
GRCh37/hg19 22q13.1(chr22:37866631-39054815)x1 copy number loss See cases [RCV000511673] Chr22:37866631..39054815 [GRCh37]
Chr22:22q13.1
pathogenic
GRCh37/hg19 22q12.3-13.1(chr22:36877226-38548989)x1 copy number loss See cases [RCV000512008] Chr22:36877226..38548989 [GRCh37]
Chr22:22q12.3-13.1
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_003560.4(PLA2G6):c.396C>T (p.Arg132=) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000546120]|PLA2G6-associated neurodegeneration [RCV001150841]|not provided [RCV001310808] Chr22:38145467 [GRCh38]
Chr22:38541474 [GRCh37]
Chr22:22q13.1
likely benign|uncertain significance
NM_003560.4(PLA2G6):c.991G>A (p.Asp331Asn) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000626136]|PLA2G6-associated neurodegeneration [RCV001146572]|not provided [RCV000762072] Chr22:38132917 [GRCh38]
Chr22:38528924 [GRCh37]
Chr22:22q13.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_003560.4(PLA2G6):c.834G>C (p.Gln278His) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000625817] Chr22:38135048 [GRCh38]
Chr22:38531055 [GRCh37]
Chr22:22q13.1
pathogenic|likely pathogenic
NM_003560.4(PLA2G6):c.115C>T (p.Arg39Trp) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000532210] Chr22:38169312 [GRCh38]
Chr22:38565319 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.3(PLA2G6):c.1932C>G (p.Phe644Leu) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000722179] Chr22:38115629 [GRCh38]
Chr22:38511636 [GRCh37]
Chr22:22q13.1
likely pathogenic
GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3 copy number gain See cases [RCV000512385] Chr22:35674826..39466442 [GRCh37]
Chr22:22q12.3-13.1
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_003560.4(PLA2G6):c.1408A>G (p.Met470Val) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000634964]|not provided [RCV000513108] Chr22:38126390 [GRCh38]
Chr22:38522397 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.2277-7C>T single nucleotide variant not provided [RCV000513304] Chr22:38112312 [GRCh38]
Chr22:38508319 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.217C>T (p.Gln73Ter) single nucleotide variant not provided [RCV000627321] Chr22:38145646 [GRCh38]
Chr22:38541653 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.1435C>G (p.His479Asp) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000634962] Chr22:38123251 [GRCh38]
Chr22:38519258 [GRCh37]
Chr22:22q13.1
likely pathogenic|uncertain significance
NM_003560.4(PLA2G6):c.1797C>G (p.Phe599Leu) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000634963] Chr22:38116157 [GRCh38]
Chr22:38512164 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1494C>T (p.Ile498=) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000634965] Chr22:38123192 [GRCh38]
Chr22:38519199 [GRCh37]
Chr22:22q13.1
likely benign
NM_003560.4(PLA2G6):c.2035-55G>A single nucleotide variant Infantile neuroaxonal dystrophy [RCV000680068] Chr22:38113709 [GRCh38]
Chr22:38509716 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1268C>T (p.Ala423Val) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000701652] Chr22:38128349 [GRCh38]
Chr22:38524356 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.325C>G (p.His109Asp) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001085110]|PLA2G6-associated neurodegeneration [RCV001150842]|not provided [RCV000712686] Chr22:38145538 [GRCh38]
Chr22:38541545 [GRCh37]
Chr22:22q13.1
benign|uncertain significance
NM_003560.4(PLA2G6):c.756C>T (p.Asn252=) single nucleotide variant not provided [RCV000712687] Chr22:38140023 [GRCh38]
Chr22:38536030 [GRCh37]
Chr22:22q13.1
likely benign
NC_000022.11:g.(?_38169198)_(38169446_?)del deletion Infantile neuroaxonal dystrophy [RCV000707946] Chr22:38169198..38169446 [GRCh38]
Chr22:38565205..38565453 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.1931del (p.Phe644fs) deletion Infantile neuroaxonal dystrophy [RCV000691192] Chr22:38115630 [GRCh38]
Chr22:38511637 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.0_-46+1931delinsCGATCTC indel Infantile neuroaxonal dystrophy [RCV000708573] Chr22:38179733..38182163 [GRCh38]
Chr22:38575740..38578170 [GRCh37]
Chr22:22q13.1
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_003560.4(PLA2G6):c.1880-9del deletion Neurodegeneration with brain iron accumulation 2b [RCV000761544] Chr22:38115690 [GRCh38]
Chr22:38511697 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.803C>T (p.Ala268Val) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001221675]|not provided [RCV000762073] Chr22:38135079 [GRCh38]
Chr22:38531086 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.894+6T>G single nucleotide variant PLA2G6-associated neurodegeneration [RCV001147490] Chr22:38134982 [GRCh38]
Chr22:38530989 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1612C>A (p.Arg538Ser) single nucleotide variant not provided [RCV000997927] Chr22:38120889 [GRCh38]
Chr22:38516896 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.1116C>T (p.Phe372=) single nucleotide variant not provided [RCV000945899] Chr22:38129524 [GRCh38]
Chr22:38525531 [GRCh37]
Chr22:22q13.1
likely benign
NM_003560.4(PLA2G6):c.1983G>A (p.Thr661=) single nucleotide variant PLA2G6-associated neurodegeneration [RCV001150737]|not provided [RCV000876770] Chr22:38115578 [GRCh38]
Chr22:38511585 [GRCh37]
Chr22:22q13.1
likely benign|uncertain significance
NM_003560.4(PLA2G6):c.1026C>T (p.Asn342=) single nucleotide variant not provided [RCV000905130] Chr22:38132882 [GRCh38]
Chr22:38528889 [GRCh37]
Chr22:22q13.1
likely benign
NM_003560.4(PLA2G6):c.1701G>A (p.Glu567=) single nucleotide variant not provided [RCV000904453] Chr22:38120800 [GRCh38]
Chr22:38516807 [GRCh37]
Chr22:22q13.1
likely benign
NM_003560.4(PLA2G6):c.226T>C (p.Leu76=) single nucleotide variant not provided [RCV000946269] Chr22:38145637 [GRCh38]
Chr22:38541644 [GRCh37]
Chr22:22q13.1
likely benign
NM_003560.4(PLA2G6):c.447C>T (p.Asn149=) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000950904] Chr22:38143267 [GRCh38]
Chr22:38539274 [GRCh37]
Chr22:22q13.1
likely benign
NM_003560.4(PLA2G6):c.380T>C (p.Val127Ala) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000984517] Chr22:38145483 [GRCh38]
Chr22:38541490 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1061T>C (p.Leu354Pro) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001050248] Chr22:38132847 [GRCh38]
Chr22:38528854 [GRCh37]
Chr22:22q13.1
pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
NM_003560.4(PLA2G6):c.1427C>T (p.Thr476Ile) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001046693]|PLA2G6-associated neurodegeneration [RCV001144630] Chr22:38126371 [GRCh38]
Chr22:38522378 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1880-3del deletion Infantile neuroaxonal dystrophy [RCV000811785] Chr22:38115684 [GRCh38]
Chr22:38511691 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.171C>T (p.Cys57=) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001489659]|not provided [RCV000904090] Chr22:38169256 [GRCh38]
Chr22:38565263 [GRCh37]
Chr22:22q13.1
likely benign
NM_003560.4(PLA2G6):c.2277-6G>A single nucleotide variant not provided [RCV000871949] Chr22:38112311 [GRCh38]
Chr22:38508318 [GRCh37]
Chr22:22q13.1
likely benign|conflicting interpretations of pathogenicity
NM_003560.4(PLA2G6):c.1575C>G (p.Ala525=) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001485278]|not provided [RCV000976400] Chr22:38123111 [GRCh38]
Chr22:38519118 [GRCh37]
Chr22:22q13.1
likely benign
NM_003560.4(PLA2G6):c.966C>T (p.His322=) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000872364]|PLA2G6-associated neurodegeneration [RCV001147486] Chr22:38132942 [GRCh38]
Chr22:38528949 [GRCh37]
Chr22:22q13.1
likely benign|uncertain significance
NM_003560.4(PLA2G6):c.564C>T (p.Thr188=) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000874932]|not provided [RCV001356536] Chr22:38143150 [GRCh38]
Chr22:38539157 [GRCh37]
Chr22:22q13.1
likely benign|uncertain significance
NM_003560.4(PLA2G6):c.1224C>T (p.Thr408=) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001464868]|not provided [RCV000964643] Chr22:38128393 [GRCh38]
Chr22:38524400 [GRCh37]
Chr22:22q13.1
likely benign
NM_003560.4(PLA2G6):c.425+3G>T single nucleotide variant Infantile neuroaxonal dystrophy [RCV000819428] Chr22:38145435 [GRCh38]
Chr22:38541442 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.2105C>G (p.Pro702Arg) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000816064] Chr22:38113584 [GRCh38]
Chr22:38509591 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.2416C>T (p.Pro806Ser) single nucleotide variant not provided [RCV000997924] Chr22:38112166 [GRCh38]
Chr22:38508173 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1724C>T (p.Thr575Met) single nucleotide variant not provided [RCV000997926] Chr22:38120777 [GRCh38]
Chr22:38516784 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.962T>C (p.Leu321Pro) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000784958] Chr22:38132946 [GRCh38]
Chr22:38528953 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.2350G>A (p.Glu784Lys) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000990438] Chr22:38112232 [GRCh38]
Chr22:38508239 [GRCh37]
Chr22:22q13.1
likely pathogenic
NC_000022.10:g.38511626C>T single nucleotide variant Infantile neuroaxonal dystrophy [RCV000990440] Chr22:38115619 [GRCh38]
Chr22:38511626 [GRCh37]
Chr22:22q13.1
likely pathogenic
GRCh37/hg19 22q13.1(chr22:38510503-38609880)x3 copy number gain not provided [RCV000848114] Chr22:38510503..38609880 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.2248T>C (p.Cys750Arg) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000785109] Chr22:38112532 [GRCh38]
Chr22:38508539 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1186+1G>A single nucleotide variant Infantile neuroaxonal dystrophy [RCV000785898]|not provided [RCV001310807] Chr22:38129453 [GRCh38]
Chr22:38525460 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.1516G>A (p.Val506Met) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000801610] Chr22:38123170 [GRCh38]
Chr22:38519177 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1262del (p.Val421fs) deletion Infantile neuroaxonal dystrophy [RCV000808605] Chr22:38128355 [GRCh38]
Chr22:38524362 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.812T>C (p.Ile271Thr) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000821906] Chr22:38135070 [GRCh38]
Chr22:38531077 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.2240G>A (p.Arg747Gln) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001055939] Chr22:38112540 [GRCh38]
Chr22:38508547 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.*515C>T single nucleotide variant PLA2G6-associated neurodegeneration [RCV001146455] Chr22:38111646 [GRCh38]
Chr22:38507653 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.*35C>T single nucleotide variant PLA2G6-associated neurodegeneration [RCV001149227] Chr22:38112126 [GRCh38]
Chr22:38508133 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.2028C>T (p.Ile676=) single nucleotide variant PLA2G6-associated neurodegeneration [RCV001150736] Chr22:38115533 [GRCh38]
Chr22:38511540 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1977C>T (p.Asn659=) single nucleotide variant PLA2G6-associated neurodegeneration [RCV001150738] Chr22:38115584 [GRCh38]
Chr22:38511591 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.641A>G (p.Asn214Ser) single nucleotide variant Iron accumulation in brain [RCV000850305] Chr22:38140138 [GRCh38]
Chr22:38536145 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.209+9dup duplication Infantile neuroaxonal dystrophy [RCV000871909] Chr22:38169208..38169209 [GRCh38]
Chr22:38565215..38565216 [GRCh37]
Chr22:22q13.1
likely benign
NM_003560.4(PLA2G6):c.2335G>T (p.Val779Phe) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001058750] Chr22:38112247 [GRCh38]
Chr22:38508254 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.2165T>C (p.Phe722Ser) single nucleotide variant Iron accumulation in brain [RCV000850304] Chr22:38113524 [GRCh38]
Chr22:38509531 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.29C>A (p.Thr10Asn) single nucleotide variant not provided [RCV000997931] Chr22:38169398 [GRCh38]
Chr22:38565405 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.2376C>A (p.His792Gln) single nucleotide variant PLA2G6-associated neurodegeneration [RCV001149229] Chr22:38112206 [GRCh38]
Chr22:38508213 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.894+8G>A single nucleotide variant PLA2G6-associated neurodegeneration [RCV001147489] Chr22:38134980 [GRCh38]
Chr22:38530987 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.2356G>C (p.Glu786Gln) single nucleotide variant not provided [RCV000997925] Chr22:38112226 [GRCh38]
Chr22:38508233 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1772G>A (p.Arg591Gln) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000990442]|not provided [RCV001092012] Chr22:38116182 [GRCh38]
Chr22:38512189 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.164G>A (p.Trp55Ter) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000990445] Chr22:38169263 [GRCh38]
Chr22:38565270 [GRCh37]
Chr22:22q13.1
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_003560.4(PLA2G6):c.343C>T (p.Arg115Cys) single nucleotide variant not provided [RCV000992629] Chr22:38145520 [GRCh38]
Chr22:38541527 [GRCh37]
Chr22:22q13.1
uncertain significance
GRCh37/hg19 22q13.1(chr22:38565225-38565434) copy number loss Infantile neuroaxonal dystrophy [RCV001195157] Chr22:38565225..38565434 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.2152G>A (p.Ala718Thr) single nucleotide variant Neurodegeneration with brain iron accumulation 2b [RCV001250513] Chr22:38113537 [GRCh38]
Chr22:38509544 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000990441] Chr22:38116176 [GRCh38]
Chr22:38512183 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.1624T>G (p.Phe542Val) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000990443] Chr22:38120877 [GRCh38]
Chr22:38516884 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000990444] Chr22:38123191 [GRCh38]
Chr22:38519198 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.757G>A (p.Gly253Ser) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000995607] Chr22:38140022 [GRCh38]
Chr22:38536029 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.1742+2T>G single nucleotide variant Neurodegeneration with brain iron accumulation 2b [RCV001250206] Chr22:38120757 [GRCh38]
Chr22:38516764 [GRCh37]
Chr22:22q13.1
likely pathogenic
NC_000022.11:g.38111485A>G single nucleotide variant PLA2G6-associated neurodegeneration [RCV001144530] Chr22:38111485 [GRCh38]
Chr22:38507492 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.858C>T (p.Tyr286=) single nucleotide variant not provided [RCV000940081] Chr22:38135024 [GRCh38]
Chr22:38531031 [GRCh37]
Chr22:22q13.1
likely benign
NM_003560.4(PLA2G6):c.895-5C>T single nucleotide variant Infantile neuroaxonal dystrophy [RCV000872713]|PLA2G6-associated neurodegeneration [RCV001147488] Chr22:38133018 [GRCh38]
Chr22:38529025 [GRCh37]
Chr22:22q13.1
likely benign|uncertain significance
NM_003560.4(PLA2G6):c.237C>T (p.Asp79=) single nucleotide variant not provided [RCV000952189] Chr22:38145626 [GRCh38]
Chr22:38541633 [GRCh37]
Chr22:22q13.1
likely benign
NM_003560.4(PLA2G6):c.2203-6C>T single nucleotide variant not provided [RCV000893927] Chr22:38112583 [GRCh38]
Chr22:38508590 [GRCh37]
Chr22:22q13.1
likely benign
NM_003560.4(PLA2G6):c.2035-2A>G single nucleotide variant Infantile neuroaxonal dystrophy [RCV000853335] Chr22:38113656 [GRCh38]
Chr22:38509663 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.187A>G (p.Arg63Gly) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000870868] Chr22:38169240 [GRCh38]
Chr22:38565247 [GRCh37]
Chr22:22q13.1
benign
NM_003560.4(PLA2G6):c.1899G>T (p.Ala633=) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000981223] Chr22:38115662 [GRCh38]
Chr22:38511669 [GRCh37]
Chr22:22q13.1
likely benign
NM_003560.4(PLA2G6):c.2025G>C (p.Leu675=) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000942307] Chr22:38115536 [GRCh38]
Chr22:38511543 [GRCh37]
Chr22:22q13.1
likely benign
NM_003560.4(PLA2G6):c.1710G>A (p.Glu570=) single nucleotide variant not provided [RCV000887019] Chr22:38120791 [GRCh38]
Chr22:38516798 [GRCh37]
Chr22:22q13.1
likely benign
NM_003560.4(PLA2G6):c.1428-8C>T single nucleotide variant Infantile neuroaxonal dystrophy [RCV001078763]|not provided [RCV000951955] Chr22:38123266 [GRCh38]
Chr22:38519273 [GRCh37]
Chr22:22q13.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000022.11:g.38111489C>T single nucleotide variant PLA2G6-associated neurodegeneration [RCV001144531] Chr22:38111489 [GRCh38]
Chr22:38507496 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.554A>G (p.Lys185Arg) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001212850] Chr22:38143160 [GRCh38]
Chr22:38539167 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.-130C>T single nucleotide variant PLA2G6-associated neurodegeneration [RCV001146691] Chr22:38181748 [GRCh38]
Chr22:38577755 [GRCh37]
Chr22:22q13.1
benign
NM_003560.4(PLA2G6):c.547G>A (p.Asp183Asn) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001059763] Chr22:38143167 [GRCh38]
Chr22:38539174 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1374A>C (p.Ser458=) single nucleotide variant not provided [RCV000912268] Chr22:38126424 [GRCh38]
Chr22:38522431 [GRCh37]
Chr22:22q13.1
likely benign
NM_003560.4(PLA2G6):c.1527G>C (p.Lys509Asn) single nucleotide variant not provided [RCV000997928] Chr22:38123159 [GRCh38]
Chr22:38519166 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.901C>T (p.Arg301Cys) single nucleotide variant not provided [RCV000997930] Chr22:38133007 [GRCh38]
Chr22:38529014 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.510G>A (p.Glu170=) single nucleotide variant Infantile neuroaxonal dystrophy [RCV000911443] Chr22:38143204 [GRCh38]
Chr22:38539211 [GRCh37]
Chr22:22q13.1
likely benign
NM_003560.4(PLA2G6):c.2034+9C>T single nucleotide variant Infantile neuroaxonal dystrophy [RCV000911599] Chr22:38115518 [GRCh38]
Chr22:38511525 [GRCh37]
Chr22:22q13.1
likely benign
NM_003560.4(PLA2G6):c.2276+1G>A single nucleotide variant Infantile neuroaxonal dystrophy [RCV000990439] Chr22:38112503 [GRCh38]
Chr22:38508510 [GRCh37]
Chr22:22q13.1
pathogenic
GRCh37/hg19 22q13.1(chr22:38002218-38973070)x1 copy number loss not provided [RCV001007501] Chr22:38002218..38973070 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.1614C>T (p.Arg538=) single nucleotide variant PLA2G6-associated neurodegeneration [RCV001144628]|not provided [RCV001171726] Chr22:38120887 [GRCh38]
Chr22:38516894 [GRCh37]
Chr22:22q13.1
likely benign|uncertain significance
NM_003560.4(PLA2G6):c.1348+10G>A single nucleotide variant PLA2G6-associated neurodegeneration [RCV001144631] Chr22:38128259 [GRCh38]
Chr22:38524266 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.67C>T (p.Arg23Trp) single nucleotide variant PLA2G6-associated neurodegeneration [RCV001144724] Chr22:38169360 [GRCh38]
Chr22:38565367 [GRCh37]
Chr22:22q13.1
uncertain significance
GRCh37/hg19 22q13.1(chr22:38431917-39392250)x1 copy number loss See cases [RCV001007404] Chr22:38431917..39392250 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.155A>G (p.Asn52Ser) single nucleotide variant PLA2G6-associated neurodegeneration [RCV001144723] Chr22:38169272 [GRCh38]
Chr22:38565279 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.624C>T (p.Asn208=) single nucleotide variant not provided [RCV001171728] Chr22:38140155 [GRCh38]
Chr22:38536162 [GRCh37]
Chr22:22q13.1
likely benign
NM_003560.4(PLA2G6):c.1187-1G>A single nucleotide variant Infantile neuroaxonal dystrophy [RCV001004414] Chr22:38128431 [GRCh38]
Chr22:38524438 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001050461]|PLA2G6-associated neurodegeneration [RCV001147487] Chr22:38132952 [GRCh38]
Chr22:38528959 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1880-1G>C single nucleotide variant Infantile neuroaxonal dystrophy [RCV001004413] Chr22:38115682 [GRCh38]
Chr22:38511689 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.448G>A (p.Glu150Lys) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001325562]|PLA2G6-associated neurodegeneration [RCV001150839] Chr22:38143266 [GRCh38]
Chr22:38539273 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1486C>T (p.Leu496Phe) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001213901] Chr22:38123200 [GRCh38]
Chr22:38519207 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1601T>A (p.Met534Lys) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001205762] Chr22:38120900 [GRCh38]
Chr22:38516907 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1786C>T (p.Leu596Phe) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001236048] Chr22:38116168 [GRCh38]
Chr22:38512175 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1448T>C (p.Leu483Pro) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001072098] Chr22:38123238 [GRCh38]
Chr22:38519245 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1367A>C (p.His456Pro) single nucleotide variant not provided [RCV001092015] Chr22:38126431 [GRCh38]
Chr22:38522438 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1186C>T (p.Leu396Phe) single nucleotide variant not provided [RCV001092016] Chr22:38129454 [GRCh38]
Chr22:38525461 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.*620G>A single nucleotide variant PLA2G6-associated neurodegeneration [RCV001144532] Chr22:38111541 [GRCh38]
Chr22:38507548 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.610-1G>T single nucleotide variant PLA2G6-associated neurodegeneration [RCV001195284] Chr22:38140170 [GRCh38]
Chr22:38536177 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.1600A>G (p.Met534Val) single nucleotide variant PLA2G6-associated neurodegeneration [RCV001144629] Chr22:38120901 [GRCh38]
Chr22:38516908 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.*493C>G single nucleotide variant PLA2G6-associated neurodegeneration [RCV001146456] Chr22:38111668 [GRCh38]
Chr22:38507675 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.776C>A (p.Ala259Asp) single nucleotide variant PLA2G6-associated neurodegeneration [RCV001150838] Chr22:38140003 [GRCh38]
Chr22:38536010 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1627C>T (p.Arg543Cys) single nucleotide variant not provided [RCV001092013] Chr22:38120874 [GRCh38]
Chr22:38516881 [GRCh37]
Chr22:22q13.1
pathogenic
NC_000022.11:g.(?_38132114)_(38135084_?)del deletion Infantile neuroaxonal dystrophy [RCV001033215] Chr22:38528121..38531091 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.266C>T (p.Ser89Phe) single nucleotide variant not provided [RCV001092851] Chr22:38145597 [GRCh38]
Chr22:38541604 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.319del (p.Leu107fs) deletion Neurodegeneration with brain iron accumulation 2b [RCV001264800] Chr22:38145544 [GRCh38]
Chr22:38541551 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.1427+1G>C single nucleotide variant Inborn genetic diseases [RCV001266198] Chr22:38126370 [GRCh38]
Chr22:38522377 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.2104C>T (p.Pro702Ser) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001304548] Chr22:38113585 [GRCh38]
Chr22:38509592 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.2349G>A (p.Trp783Ter) single nucleotide variant not provided [RCV001310803] Chr22:38112233 [GRCh38]
Chr22:38508240 [GRCh37]
Chr22:22q13.1
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_003560.4(PLA2G6):c.1021G>A (p.Ala341Thr) single nucleotide variant not provided [RCV001268304] Chr22:38132887 [GRCh38]
Chr22:38528894 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.643C>T (p.Gln215Ter) single nucleotide variant not provided [RCV001268305] Chr22:38140136 [GRCh38]
Chr22:38536143 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.533_536del (p.Gln178fs) deletion Inborn genetic diseases [RCV001267368] Chr22:38143178..38143181 [GRCh38]
Chr22:38539185..38539188 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.2204G>C (p.Cys735Ser) single nucleotide variant Inborn genetic diseases [RCV001266199] Chr22:38112576 [GRCh38]
Chr22:38508583 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1111G>A (p.Val371Met) single nucleotide variant Inborn genetic diseases [RCV001266643] Chr22:38129529 [GRCh38]
Chr22:38525536 [GRCh37]
Chr22:22q13.1
likely pathogenic
NM_003560.4(PLA2G6):c.1806C>G (p.Tyr602Ter) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001329714] Chr22:38116148 [GRCh38]
Chr22:38512155 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.116G>A (p.Arg39Gln) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001336583] Chr22:38169311 [GRCh38]
Chr22:38565318 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.455G>T (p.Gly152Val) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001362646] Chr22:38143259 [GRCh38]
Chr22:38539266 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.2251G>T (p.Glu751Ter) single nucleotide variant not provided [RCV001310804] Chr22:38112529 [GRCh38]
Chr22:38508536 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.1835G>A (p.Arg612His) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001306372] Chr22:38116119 [GRCh38]
Chr22:38512126 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.344G>A (p.Arg115His) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001342303] Chr22:38145519 [GRCh38]
Chr22:38541526 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1286C>T (p.Ala429Val) single nucleotide variant not provided [RCV001310805] Chr22:38128331 [GRCh38]
Chr22:38524338 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.1234G>A (p.Glu412Lys) single nucleotide variant not provided [RCV001310806] Chr22:38128383 [GRCh38]
Chr22:38524390 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.533A>G (p.Gln178Arg) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001469742]|not provided [RCV001355997] Chr22:38143181 [GRCh38]
Chr22:38539188 [GRCh37]
Chr22:22q13.1
likely benign|uncertain significance
NM_003560.4(PLA2G6):c.1933C>T (p.Arg645Ter) single nucleotide variant Neurodegeneration with brain iron accumulation 2b [RCV001329715] Chr22:38115628 [GRCh38]
Chr22:38511635 [GRCh37]
Chr22:22q13.1
pathogenic
GRCh37/hg19 22q13.1(chr22:38155164-38541997) copy number loss Waardenburg syndrome type 2E [RCV001290182] Chr22:38155164..38541997 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.1743G>C (p.Lys581Asn) single nucleotide variant not provided [RCV001509098] Chr22:38116211 [GRCh38]
Chr22:38512218 [GRCh37]
Chr22:22q13.1
uncertain significance
NM_003560.4(PLA2G6):c.804G>A (p.Ala268=) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001506309] Chr22:38135078 [GRCh38]
Chr22:38531085 [GRCh37]
Chr22:22q13.1
likely benign
NM_003560.4(PLA2G6):c.1742+8C>T single nucleotide variant Infantile neuroaxonal dystrophy [RCV001404770] Chr22:38120751 [GRCh38]
Chr22:38516758 [GRCh37]
Chr22:22q13.1
likely benign
NC_000022.10:g.(?_38528818)_(38539315_?)dup duplication Infantile neuroaxonal dystrophy [RCV001391042] Chr22:38528818..38539315 [GRCh37]
Chr22:22q13.1
pathogenic
NM_003560.4(PLA2G6):c.2355C>T (p.Thr785=) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001510610] Chr22:38112227 [GRCh38]
Chr22:38508234 [GRCh37]
Chr22:22q13.1
benign
NM_003560.4(PLA2G6):c.209+16C>T single nucleotide variant Infantile neuroaxonal dystrophy [RCV001518070] Chr22:38169202 [GRCh38]
Chr22:38565209 [GRCh37]
Chr22:22q13.1
benign
NM_003560.4(PLA2G6):c.438C>T (p.Cys146=) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001405502] Chr22:38143276 [GRCh38]
Chr22:38539283 [GRCh37]
Chr22:22q13.1
likely benign
NM_003560.4(PLA2G6):c.1186+17C>G single nucleotide variant Infantile neuroaxonal dystrophy [RCV001516372] Chr22:38129437 [GRCh38]
Chr22:38525444 [GRCh37]
Chr22:22q13.1
benign
NM_003560.4(PLA2G6):c.1695G>A (p.Lys565=) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001432468] Chr22:38120806 [GRCh38]
Chr22:38516813 [GRCh37]
Chr22:22q13.1
likely benign
NM_003560.4(PLA2G6):c.1341C>T (p.Asn447=) single nucleotide variant Infantile neuroaxonal dystrophy [RCV001504200] Chr22:38128276 [GRCh38]
Chr22:38524283 [GRCh37]
Chr22:22q13.1
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9039 AgrOrtholog
COSMIC PLA2G6 COSMIC
Ensembl Genes ENSG00000184381 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000333142 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000335149 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000386100 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000393761 UniProtKB/TrEMBL
  ENSP00000395464 UniProtKB/TrEMBL
  ENSP00000401242 UniProtKB/TrEMBL
  ENSP00000407106 UniProtKB/TrEMBL
  ENSP00000407743 UniProtKB/TrEMBL
  ENSP00000412629 UniProtKB/TrEMBL
  ENSP00000413145 UniProtKB/TrEMBL
  ENSP00000472058 UniProtKB/TrEMBL
  ENSP00000473160 UniProtKB/TrEMBL
  ENSP00000499394 UniProtKB/TrEMBL
  ENSP00000499423 UniProtKB/TrEMBL
  ENSP00000499555 UniProtKB/Swiss-Prot
  ENSP00000499626 UniProtKB/TrEMBL
  ENSP00000499665 UniProtKB/Swiss-Prot
  ENSP00000499711 UniProtKB/TrEMBL
  ENSP00000499712 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000499715 UniProtKB/TrEMBL
  ENSP00000500600 UniProtKB/TrEMBL
Ensembl Transcript ENST00000332509 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000335539 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000402064 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000427114 UniProtKB/TrEMBL
  ENST00000430886 UniProtKB/TrEMBL
  ENST00000436218 UniProtKB/TrEMBL
  ENST00000448094 UniProtKB/TrEMBL
  ENST00000452542 UniProtKB/TrEMBL
  ENST00000454670 UniProtKB/TrEMBL
  ENST00000455341 UniProtKB/TrEMBL
  ENST00000498338 UniProtKB/TrEMBL
  ENST00000594306 UniProtKB/TrEMBL
  ENST00000655142 UniProtKB/TrEMBL
  ENST00000660610 UniProtKB/Swiss-Prot
  ENST00000663895 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000664587 UniProtKB/TrEMBL
  ENST00000665987 UniProtKB/TrEMBL
  ENST00000667521 UniProtKB/Swiss-Prot
  ENST00000668499 UniProtKB/TrEMBL
  ENST00000668949 UniProtKB/TrEMBL
  ENST00000673413 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000184381 GTEx
HGNC ID HGNC:9039 ENTREZGENE
Human Proteome Map PLA2G6 Human Proteome Map
InterPro Acyl_Trfase/lysoPLipase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PNPLA_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8398 UniProtKB/Swiss-Prot
NCBI Gene 8398 ENTREZGENE
OMIM 256600 OMIM
  603604 OMIM
  610217 OMIM
  612953 OMIM
Pfam Ank UniProtKB/TrEMBL
  Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Patatin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33367 PharmGKB
PRINTS ANKYRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PNPLA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52151 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3Q9WQR3_HUMAN UniProtKB/TrEMBL
  A0A3S5IBI3_HUMAN UniProtKB/TrEMBL
  A0A3T0ZC00_HUMAN UniProtKB/TrEMBL
  A0A3T0ZC14_HUMAN UniProtKB/TrEMBL
  A0A590UJC7_HUMAN UniProtKB/TrEMBL
  A0A590UJH4_HUMAN UniProtKB/TrEMBL
  A0A590UJZ2_HUMAN UniProtKB/TrEMBL
  A0A590UK51_HUMAN UniProtKB/TrEMBL
  A0A590UK67_HUMAN UniProtKB/TrEMBL
  B0QYE9_HUMAN UniProtKB/TrEMBL
  E7EX67_HUMAN UniProtKB/TrEMBL
  F8WEN3_HUMAN UniProtKB/TrEMBL
  F8WEQ9_HUMAN UniProtKB/TrEMBL
  H0Y6T3_HUMAN UniProtKB/TrEMBL
  H0Y7G5_HUMAN UniProtKB/TrEMBL
  H7C3P5_HUMAN UniProtKB/TrEMBL
  M0R1Q9_HUMAN UniProtKB/TrEMBL
  M0R3D9_HUMAN UniProtKB/TrEMBL
  O60733 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K597 UniProtKB/Swiss-Prot
  B0QYE8 UniProtKB/Swiss-Prot
  O75645 UniProtKB/Swiss-Prot
  Q8N452 UniProtKB/Swiss-Prot
  Q9UG29 UniProtKB/Swiss-Prot
  Q9UIT0 UniProtKB/Swiss-Prot
  Q9Y671 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PLA2G6  phospholipase A2 group VI    phospholipase A2, group VI (cytosolic, calcium-independent)  Symbol and/or name change 5135510 APPROVED