PEX19 (peroxisomal biogenesis factor 19) - Rat Genome Database

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Gene: PEX19 (peroxisomal biogenesis factor 19) Homo sapiens
Analyze
Symbol: PEX19
Name: peroxisomal biogenesis factor 19
RGD ID: 1315796
HGNC Page HGNC:9713
Description: Enables ATPase binding activity; peroxisome membrane class-1 targeting sequence binding activity; and protein carrier chaperone. Involved in several processes, including peroxisome organization; protein stabilization; and protein targeting to peroxisome. Located in cytosol; nucleoplasm; and peroxisomal membrane. Part of protein-containing complex. Implicated in peroxisome biogenesis disorder 12A.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 33 kDa housekeeping protein; D1S2223E; FLJ55296; HK33; housekeeping gene, 33kD; PBD12A; peroxin-19; peroxisomal farnesylated protein; PMP1; PMPI; PXF; PXMP1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381160,276,807 - 160,285,151 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1160,276,807 - 160,286,348 (-)Ensemblhg38GRCh38
GRCh371160,246,597 - 160,254,941 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361158,513,226 - 158,521,555 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341157,059,674 - 157,068,004NCBI
Celera1133,315,362 - 133,323,704 (-)NCBICelera
Cytogenetic Map1q23.2NCBI
HuRef1131,603,239 - 131,611,581 (-)NCBIHuRef
CHM1_11161,641,944 - 161,650,286 (-)NCBICHM1_1
T2T-CHM13v2.01159,413,883 - 159,422,227 (-)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
9-cis-retinoic acid  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
amiodarone  (ISO)
amitrole  (ISO)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP)
bexarotene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
coumarin  (EXP)
cyclosporin A  (EXP)
diallyl trisulfide  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
dorsomorphin  (EXP)
ethanol  (ISO)
fenthion  (ISO)
finasteride  (ISO)
fipronil  (ISO)
folic acid  (ISO)
FR900359  (EXP)
glafenine  (ISO)
indometacin  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
L-ethionine  (ISO)
methimazole  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
Muraglitazar  (ISO)
okadaic acid  (EXP)
omeprazole  (ISO)
ozone  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
pirinixic acid  (EXP,ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP)
sulfadimethoxine  (ISO)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
toluene  (EXP)
trichostatin A  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
brush border membrane  (ISO,ISS)
cytoplasm  (IDA,IEA,IMP,ISS)
cytosol  (IDA,TAS)
membrane  (IDA,IEA)
nucleoplasm  (IDA)
nucleus  (IMP)
peroxisomal membrane  (HDA,IBA,IDA,IEA)
peroxisome  (IDA,IEA,ISS)
protein-containing complex  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal chorioretinal morphology  (IAGP)
Abnormal cortical bone morphology  (IAGP)
Abnormal epiphysis morphology  (IAGP)
Abnormal palate morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormality of coagulation  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Abnormality of movement  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the face  (IAGP)
Abnormality of the hairline  (IAGP)
Abnormality of the liver  (IAGP)
Abnormality of the male genitalia  (IAGP)
Abnormality of the tongue  (IAGP)
Anteverted nares  (IAGP)
Arrhythmia  (IAGP)
Ataxia  (IAGP)
Atrial septal defect  (IAGP)
Atypical behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral single transverse palmar creases  (IAGP)
Brisk reflexes  (IAGP)
Brushfield spots  (IAGP)
Cardiomyopathy  (IAGP)
Cataract  (IAGP)
Cerebral atrophy  (IAGP)
Cholelithiasis  (IAGP)
Clitoral hypertrophy  (IAGP)
CNS demyelination  (IAGP)
Cognitive impairment  (IAGP)
Congenital onset  (IAGP)
Constriction of peripheral visual field  (IAGP)
Corneal opacity  (IAGP)
Cranial asymmetry  (IAGP)
Cryptorchidism  (IAGP)
Death in infancy  (IAGP)
Decreased body weight  (IAGP)
Decreased fetal movement  (IAGP)
Delayed closure of the anterior fontanelle  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Dolichocephaly  (IAGP)
Double outlet right ventricle  (IAGP)
EEG abnormality  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Elevated circulating long chain fatty acid concentration  (IAGP)
Elevated circulating phytanic acid concentration  (IAGP)
Epicanthus  (IAGP)
Epiphyseal stippling  (IAGP)
Facial palsy  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties in infancy  (IAGP)
Flat face  (IAGP)
Flat occiput  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
Hepatic failure  (IAGP)
Hepatomegaly  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Hydrocephalus  (IAGP)
Hydronephrosis  (IAGP)
Hyperbilirubinemia  (IAGP)
Hyperreflexia  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Ichthyosis  (IAGP)
Jaundice  (IAGP)
Macrocephaly  (IAGP)
Malabsorption  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Patent ductus arteriosus  (IAGP)
Periorbital fullness  (IAGP)
Polymicrogyria  (IAGP)
Poor suck  (IAGP)
Posterior embryotoxon  (IAGP)
Posteriorly rotated ears  (IAGP)
Premature birth  (IAGP)
Primary adrenal insufficiency  (IAGP)
Profound global developmental delay  (IAGP)
Progressive muscle weakness  (IAGP)
Prominence of the premaxilla  (IAGP)
Prominent nose  (IAGP)
Ptosis  (IAGP)
Pyloric stenosis  (IAGP)
Reduced tendon reflexes  (IAGP)
Renal tubular dysfunction  (IAGP)
Respiratory insufficiency  (IAGP)
Rod-cone dystrophy  (IAGP)
Scaphocephaly  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Sepsis  (IAGP)
Severe global developmental delay  (IAGP)
Severe muscular hypotonia  (IAGP)
Short stature  (IAGP)
Skeletal dysplasia  (IAGP)
Spasticity  (IAGP)
Strabismus  (IAGP)
Thickened nuchal skin fold  (IAGP)
Triangular face  (IAGP)
Underdeveloped supraorbital ridges  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventricular septal defect  (IAGP)
Very long chain fatty acid accumulation  (IAGP)
Visual impairment  (IAGP)
Weak cry  (IAGP)
Wide anterior fontanel  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8076834   PMID:9339377   PMID:9418908   PMID:10051604   PMID:10704444   PMID:10777694   PMID:11259404   PMID:11390669   PMID:11402059   PMID:11453642   PMID:11590176   PMID:11883941  
PMID:12096124   PMID:12154087   PMID:12477932   PMID:12488033   PMID:12581788   PMID:12924628   PMID:14558883   PMID:14709540   PMID:14713233   PMID:14715663   PMID:15007061   PMID:15231748  
PMID:15252024   PMID:15489334   PMID:15713480   PMID:15781447   PMID:16189514   PMID:16280322   PMID:16344115   PMID:16459329   PMID:16582619   PMID:16763195   PMID:16791427   PMID:16895967  
PMID:16980692   PMID:17069900   PMID:18174172   PMID:18782765   PMID:19114594   PMID:19195843   PMID:19197237   PMID:19322201   PMID:19715730   PMID:20171429   PMID:20301621   PMID:20531392  
PMID:20554521   PMID:20615514   PMID:20683989   PMID:21102411   PMID:21525035   PMID:21653829   PMID:21873635   PMID:21988832   PMID:22038470   PMID:22119785   PMID:22624858   PMID:22939629  
PMID:23457492   PMID:23460677   PMID:23956138   PMID:24501781   PMID:25007327   PMID:25036637   PMID:25062251   PMID:25416956   PMID:25502805   PMID:25544563   PMID:26018079   PMID:26186194  
PMID:26264872   PMID:26344197   PMID:26389662   PMID:26673895   PMID:26871637   PMID:27107012   PMID:27107014   PMID:27295553   PMID:27432908   PMID:27880917   PMID:28281558   PMID:28514442  
PMID:28675297   PMID:29282281   PMID:29395067   PMID:29396426   PMID:29500918   PMID:29568061   PMID:29997244   PMID:30366024   PMID:30776093   PMID:30833792   PMID:30884312   PMID:31024071  
PMID:31467278   PMID:31515488   PMID:32296183   PMID:32513696   PMID:32814053   PMID:32877691   PMID:32941674   PMID:33001583   PMID:33060197   PMID:33957083   PMID:33961781   PMID:34079125  
PMID:34108265   PMID:34597346   PMID:34672954   PMID:34747980   PMID:34819669   PMID:34917906   PMID:35215846   PMID:35271311   PMID:35446349   PMID:37398436   PMID:37433992   PMID:37468549  
PMID:37689310   PMID:38225382   PMID:39205283   PMID:40355756   PMID:40593736  


Genomics

Comparative Map Data
PEX19
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381160,276,807 - 160,285,151 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1160,276,807 - 160,286,348 (-)Ensemblhg38GRCh38
GRCh371160,246,597 - 160,254,941 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361158,513,226 - 158,521,555 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341157,059,674 - 157,068,004NCBI
Celera1133,315,362 - 133,323,704 (-)NCBICelera
Cytogenetic Map1q23.2NCBI
HuRef1131,603,239 - 131,611,581 (-)NCBIHuRef
CHM1_11161,641,944 - 161,650,286 (-)NCBICHM1_1
T2T-CHM13v2.01159,413,883 - 159,422,227 (-)NCBIT2T-CHM13v2.0
Pex19
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391171,954,322 - 171,964,064 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1171,954,322 - 171,964,060 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm381172,126,755 - 172,136,497 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1172,126,755 - 172,136,493 (+)Ensemblmm10GRCm38
MGSCv371174,056,886 - 174,066,628 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361173,963,447 - 173,972,455 (+)NCBIMGSCv36mm8
Celera1174,981,963 - 174,991,751 (+)NCBICelera
Cytogenetic Map1H3NCBI
cM Map179.54NCBI
Pex19
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81387,124,654 - 87,141,170 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1387,124,698 - 87,141,757 (+)EnsemblGRCr8
mRatBN7.21384,592,277 - 84,608,793 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1384,592,312 - 84,608,608 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1387,095,642 - 87,112,114 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01388,495,900 - 88,512,372 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01385,680,449 - 85,697,145 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01390,514,324 - 90,530,825 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1390,514,336 - 90,530,349 (+)Ensemblrn6Rnor6.0
Rnor_6.0 Ensembl1871,607,340 - 71,614,980 (-)Ensemblrn6Rnor6.0
Rnor_5.01395,035,461 - 95,051,834 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.41388,122,462 - 88,139,003 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1384,203,953 - 84,220,188 (+)NCBICelera
Cytogenetic Map13q24NCBI
Pex19
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546812,049,043 - 12,057,364 (-)Ensembl
ChiLan1.0NW_00495546812,049,043 - 12,057,751 (-)NCBIChiLan1.0ChiLan1.0
PEX19
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2189,566,863 - 89,573,569 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1189,306,840 - 89,315,224 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01135,630,788 - 135,639,126 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11139,551,681 - 139,559,957 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1139,551,681 - 139,559,954 (-)EnsemblpanPan2panpan1.1
PEX19
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13821,939,054 - 21,945,281 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3821,939,018 - 21,944,602 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha3822,012,447 - 22,018,702 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.03822,055,478 - 22,061,737 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3822,055,526 - 22,067,139 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13821,960,482 - 21,966,737 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03822,356,710 - 22,362,956 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03822,766,324 - 22,772,586 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Pex19
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244050586,395,854 - 6,403,436 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936740351,045 - 359,033 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_004936740351,089 - 357,657 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PEX19
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl490,195,852 - 90,205,215 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1490,196,986 - 90,213,308 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2498,087,493 - 98,095,580 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PEX19
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1203,663,375 - 3,672,113 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl203,663,001 - 3,669,404 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_0236660382,721,016 - 2,729,663 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pex19
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624794975,889 - 982,721 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_004624794976,885 - 982,723 (+)NCBIHetGla 1.0HetGla 1.0hetGla2
Pex19
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v11051,245,736 - 51,260,707 (+)NCBIRrattus_CSIRO_v1

Variants

.
Variants in PEX19
424 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002857.4(PEX19):c.320del (p.Lys107fs) deletion Peroxisome biogenesis disorder 12A (Zellweger) [RCV000022964] Chr1:160282970 [GRCh38]
Chr1:160252760 [GRCh37]
Chr1:1q23.2		 pathogenic
NM_002857.4(PEX19):c.763dup (p.Met255fs) duplication Peroxisome biogenesis disorder 12A (Zellweger) [RCV000009797] Chr1:160280077..160280078 [GRCh38]
Chr1:160249867..160249868 [GRCh37]
Chr1:1q23.2		 pathogenic|uncertain significance
NM_002857.4(PEX19):c.595-2A>G single nucleotide variant not provided [RCV000728117] Chr1:160280248 [GRCh38]
Chr1:160250038 [GRCh37]
Chr1:1q23.2		 likely pathogenic
GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1 copy number loss See cases [RCV000051172] Chr1:159479887..166895086 [GRCh38]
Chr1:159449677..166864323 [GRCh37]
Chr1:157716301..165130947 [NCBI36]
Chr1:1q23.2-24.1		 pathogenic
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 copy number gain See cases [RCV000051854] Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1		 pathogenic
GRCh38/hg38 1q23.1-23.3(chr1:156664483-160727411)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|See cases [RCV000051851] Chr1:156664483..160727411 [GRCh38]
Chr1:156634275..160697201 [GRCh37]
Chr1:154900899..158963825 [NCBI36]
Chr1:1q23.1-23.3		 pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2		 pathogenic
NM_002857.4(PEX19):c.402T>C (p.Ser134=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001085129]|not provided [RCV000594553] Chr1:160282447 [GRCh38]
Chr1:160252237 [GRCh37]
Chr1:1q23.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002857.4(PEX19):c.181-5C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001089126]|not provided [RCV000403747] Chr1:160283114 [GRCh38]
Chr1:160252904 [GRCh37]
Chr1:1q23.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002857.4(PEX19):c.181-4G>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000372399] Chr1:160283113 [GRCh38]
Chr1:160252903 [GRCh37]
Chr1:1q23.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_002857.4(PEX19):c.775C>T (p.Gln259Ter) single nucleotide variant Inborn genetic diseases [RCV000210599] Chr1:160279842 [GRCh38]
Chr1:160249632 [GRCh37]
Chr1:1q23.2		 pathogenic
NM_002857.4(PEX19):c.181-15A>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000323530]|not provided [RCV000676114] Chr1:160283124 [GRCh38]
Chr1:160252914 [GRCh37]
Chr1:1q23.2		 benign|likely benign
NM_002857.4(PEX19):c.771+3A>G single nucleotide variant PEX19-related disorder [RCV003930056]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV001081753]|not provided [RCV000514421]|not specified [RCV000395706] Chr1:160280067 [GRCh38]
Chr1:160249857 [GRCh37]
Chr1:1q23.2		 benign|likely benign|uncertain significance
NM_002857.4(PEX19):c.347-7C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000317733]|not provided [RCV000731169] Chr1:160282509 [GRCh38]
Chr1:160252299 [GRCh37]
Chr1:1q23.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_002857.4(PEX19):c.433-11G>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000356564]|not provided [RCV000676113] Chr1:160282211 [GRCh38]
Chr1:160252001 [GRCh37]
Chr1:1q23.2		 benign|likely benign|uncertain significance
NM_002857.4(PEX19):c.879T>C (p.Gly293=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001083094]|not provided [RCV000436452]|not specified [RCV000250864] Chr1:160279572 [GRCh38]
Chr1:160249362 [GRCh37]
Chr1:1q23.2		 benign|likely benign
NM_002857.4(PEX19):c.*487T>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000278560]|not provided [RCV004714688] Chr1:160279064 [GRCh38]
Chr1:160248854 [GRCh37]
Chr1:1q23.2		 benign|likely benign
NM_002857.4(PEX19):c.-4C>T single nucleotide variant PEX19-related disorder [RCV004739665]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV000283780]|not provided [RCV000592505]|not specified [RCV005418063] Chr1:160285128 [GRCh38]
Chr1:160254918 [GRCh37]
Chr1:1q23.2		 benign|uncertain significance
NM_002857.4(PEX19):c.*1852C>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000280559] Chr1:160277699 [GRCh38]
Chr1:160247489 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.498T>G (p.Asp166Glu) single nucleotide variant PEX19-related disorder [RCV003940089]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV001084547]|not provided [RCV000597624] Chr1:160282135 [GRCh38]
Chr1:160251925 [GRCh37]
Chr1:1q23.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002857.4(PEX19):c.*1163T>C single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000271388] Chr1:160278388 [GRCh38]
Chr1:160248178 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*2555T>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000273332] Chr1:160276996 [GRCh38]
Chr1:160246786 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*1980T>C single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000397543] Chr1:160277571 [GRCh38]
Chr1:160247361 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*2156C>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000334144]|not provided [RCV004714686] Chr1:160277395 [GRCh38]
Chr1:160247185 [GRCh37]
Chr1:1q23.2		 benign
NM_002857.4(PEX19):c.*1761C>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000400448] Chr1:160277790 [GRCh38]
Chr1:160247580 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*1335G>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000301728]|not provided [RCV004691148] Chr1:160278216 [GRCh38]
Chr1:160248006 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.149C>T (p.Pro50Leu) single nucleotide variant Inborn genetic diseases [RCV005384695]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV000378265]|not provided [RCV001311657] Chr1:160283561 [GRCh38]
Chr1:160253351 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*854G>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000319611] Chr1:160278697 [GRCh38]
Chr1:160248487 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*328A>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000339336] Chr1:160279223 [GRCh38]
Chr1:160249013 [GRCh37]
Chr1:1q23.2		 benign|likely benign
NM_002857.4(PEX19):c.*2637G>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000358638]|not provided [RCV004713529] Chr1:160276914 [GRCh38]
Chr1:160246704 [GRCh37]
Chr1:1q23.2		 benign|likely benign
NM_002857.4(PEX19):c.*1592G>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000359799] Chr1:160277959 [GRCh38]
Chr1:160247749 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*2417CT[2] microsatellite Peroxisome biogenesis disorder 1A (Zellweger) [RCV000382487] Chr1:160277129..160277130 [GRCh38]
Chr1:160246919..160246920 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*2353G>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000288499]|not provided [RCV004714685] Chr1:160277198 [GRCh38]
Chr1:160246988 [GRCh37]
Chr1:1q23.2		 benign|likely benign
NM_002857.4(PEX19):c.*1745T>C single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000305343] Chr1:160277806 [GRCh38]
Chr1:160247596 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*2717A>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000322435] Chr1:160276834 [GRCh38]
Chr1:160246624 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*1084T>C single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000362422] Chr1:160278467 [GRCh38]
Chr1:160248257 [GRCh37]
Chr1:1q23.2		 benign|likely benign
NM_002857.4(PEX19):c.*898A>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000386876]|not provided [RCV004714687] Chr1:160278653 [GRCh38]
Chr1:160248443 [GRCh37]
Chr1:1q23.2		 benign|uncertain significance
NM_002857.4(PEX19):c.*169C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000308955] Chr1:160279382 [GRCh38]
Chr1:160249172 [GRCh37]
Chr1:1q23.2		 likely benign|uncertain significance
NM_002857.4(PEX19):c.*77del deletion Peroxisome biogenesis disorder 1A (Zellweger) [RCV000344958] Chr1:160279474 [GRCh38]
Chr1:160249264 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*2068T>C single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000294279] Chr1:160277483 [GRCh38]
Chr1:160247273 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*1103C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000326472] Chr1:160278448 [GRCh38]
Chr1:160248238 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*2536A>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000327835] Chr1:160277015 [GRCh38]
Chr1:160246805 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.630A>C (p.Leu210=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002059339]|Peroxisome biogenesis disorder 1A (Zellweger) [RCV000369356] Chr1:160280211 [GRCh38]
Chr1:160250001 [GRCh37]
Chr1:1q23.2		 likely benign|uncertain significance
NM_002857.4(PEX19):c.459G>A (p.Leu153=) single nucleotide variant PEX19-related disorder [RCV003957533]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV000910722]|not provided [RCV002059340]|not specified [RCV000728128] Chr1:160282174 [GRCh38]
Chr1:160251964 [GRCh37]
Chr1:1q23.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002857.3(PEX19):c.-14T>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000348176]|not provided [RCV001689971] Chr1:160285138 [GRCh38]
Chr1:160254928 [GRCh37]
Chr1:1q23.2		 benign|likely benign
NM_002857.4(PEX19):c.*2057T>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000349142]|not provided [RCV004710725] Chr1:160277494 [GRCh38]
Chr1:160247284 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.*662C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000373150] Chr1:160278889 [GRCh38]
Chr1:160248679 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.490G>A (p.Glu164Lys) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001859649]|not provided [RCV000269707] Chr1:160282143 [GRCh38]
Chr1:160251933 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.523A>G (p.Met175Val) single nucleotide variant Inborn genetic diseases [RCV005384692]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV001850444]|not provided [RCV000342661] Chr1:160282110 [GRCh38]
Chr1:160251900 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.16G>A (p.Glu6Lys) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001083281]|not provided [RCV000884183]|not specified [RCV000380642] Chr1:160285109 [GRCh38]
Chr1:160254899 [GRCh37]
Chr1:1q23.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002857.4(PEX19):c.162G>T (p.Ser54=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002059310]|not provided [RCV000346914] Chr1:160283548 [GRCh38]
Chr1:160253338 [GRCh37]
Chr1:1q23.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002857.4(PEX19):c.261C>T (p.Phe87=) single nucleotide variant PEX19-related disorder [RCV003930092]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV000650590]|not specified [RCV000288367] Chr1:160283029 [GRCh38]
Chr1:160252819 [GRCh37]
Chr1:1q23.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002857.4(PEX19):c.21C>G (p.Gly7=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001084633]|not provided [RCV000322457] Chr1:160285104 [GRCh38]
Chr1:160254894 [GRCh37]
Chr1:1q23.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002857.4(PEX19):c.*998G>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000277283] Chr1:160278553 [GRCh38]
Chr1:160248343 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.255G>A (p.Ala85=) single nucleotide variant PEX19-related disorder [RCV003940051]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV001079090]|not provided [RCV000361993] Chr1:160283035 [GRCh38]
Chr1:160252825 [GRCh37]
Chr1:1q23.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002857.4(PEX19):c.195T>C (p.Ala65=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001418385]|not provided [RCV000294763] Chr1:160283095 [GRCh38]
Chr1:160252885 [GRCh37]
Chr1:1q23.2		 likely benign|uncertain significance
NM_002857.4(PEX19):c.30C>T (p.Val10=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000965570]|not specified [RCV000597833] Chr1:160285095 [GRCh38]
Chr1:160254885 [GRCh37]
Chr1:1q23.2		 benign|likely benign|uncertain significance
NM_002857.4(PEX19):c.30C>G (p.Val10=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001426166]|not provided [RCV000596831] Chr1:160285095 [GRCh38]
Chr1:160254885 [GRCh37]
Chr1:1q23.2		 likely benign|uncertain significance
NM_002857.4(PEX19):c.*172G>C single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000398613] Chr1:160279379 [GRCh38]
Chr1:160249169 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.162G>A (p.Ser54=) single nucleotide variant PEX19-related disorder [RCV003962696]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV001412677]|not provided [RCV000596452] Chr1:160283548 [GRCh38]
Chr1:160253338 [GRCh37]
Chr1:1q23.2		 likely benign|uncertain significance
NM_002857.4(PEX19):c.*896A>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000292667] Chr1:160278655 [GRCh38]
Chr1:160248445 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*1450T>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000401344] Chr1:160278101 [GRCh38]
Chr1:160247891 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*934A>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000332390] Chr1:160278617 [GRCh38]
Chr1:160248407 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*1330G>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000365746] Chr1:160278221 [GRCh38]
Chr1:160248011 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*361G>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000284283] Chr1:160279190 [GRCh38]
Chr1:160248980 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*1790A>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000335590] Chr1:160277761 [GRCh38]
Chr1:160247551 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*2155C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000388624] Chr1:160277396 [GRCh38]
Chr1:160247186 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.3(PEX19):c.-41C>T single nucleotide variant Peroxisome biogenesis disorder 1A (Zellweger) [RCV000379398]|not provided [RCV001613253] Chr1:160285165 [GRCh38]
Chr1:160254955 [GRCh37]
Chr1:1q23.2		 benign|likely benign
NM_002857.4(PEX19):c.*469C>T single nucleotide variant Peroxisome biogenesis disorder 1A (Zellweger) [RCV000342907] Chr1:160279082 [GRCh38]
Chr1:160248872 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*427A>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000397249] Chr1:160279124 [GRCh38]
Chr1:160248914 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.845C>T (p.Ala282Val) single nucleotide variant Inborn genetic diseases [RCV005384780]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV001312944]|not provided [RCV000598493] Chr1:160279606 [GRCh38]
Chr1:160249396 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.254C>T (p.Ala85Val) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001064828]|not provided [RCV000591811] Chr1:160283036 [GRCh38]
Chr1:160252826 [GRCh37]
Chr1:1q23.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_002857.4(PEX19):c.271A>G (p.Met91Val) single nucleotide variant not provided [RCV000592359] Chr1:160283019 [GRCh38]
Chr1:160252809 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.670G>A (p.Val224Ile) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001309491]|not provided [RCV000592491] Chr1:160280171 [GRCh38]
Chr1:160249961 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.564G>A (p.Leu188=) single nucleotide variant PEX19-related disorder [RCV003905524]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV001080432]|not provided [RCV000592976] Chr1:160282069 [GRCh38]
Chr1:160251859 [GRCh37]
Chr1:1q23.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002857.4(PEX19):c.87C>T (p.Phe29=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001087775]|not provided [RCV000593387] Chr1:160283623 [GRCh38]
Chr1:160253413 [GRCh37]
Chr1:1q23.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002857.4(PEX19):c.669C>T (p.Ser223=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001860174]|not provided [RCV000598495] Chr1:160280172 [GRCh38]
Chr1:160249962 [GRCh37]
Chr1:1q23.2		 likely benign|uncertain significance
NM_002857.4(PEX19):c.159A>G (p.Arg53=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002532680]|not provided [RCV000598163] Chr1:160283551 [GRCh38]
Chr1:160253341 [GRCh37]
Chr1:1q23.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002857.4(PEX19):c.115C>T (p.Pro39Ser) single nucleotide variant Inborn genetic diseases [RCV002532492]|PEX19-related disorder [RCV003980089]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV000763753]|not provided [RCV000595443] Chr1:160283595 [GRCh38]
Chr1:160253385 [GRCh37]
Chr1:1q23.2		 likely benign|uncertain significance
NM_002857.4(PEX19):c.115C>G (p.Pro39Ala) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001855787]|not provided [RCV000733755] Chr1:160283595 [GRCh38]
Chr1:160253385 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.858G>A (p.Ser286=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002536515]|not provided [RCV000734305] Chr1:160279593 [GRCh38]
Chr1:160249383 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.865C>T (p.Pro289Ser) single nucleotide variant not provided [RCV000728461] Chr1:160279586 [GRCh38]
Chr1:160249376 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.703_704delinsAT (p.Glu235Met) indel Peroxisome biogenesis disorder 12A (Zellweger) [RCV002536412]|not provided [RCV000728557] Chr1:160280137..160280138 [GRCh38]
Chr1:160249927..160249928 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.262G>A (p.Glu88Lys) single nucleotide variant Inborn genetic diseases [RCV005384842]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV002535273]|not provided [RCV000732439] Chr1:160283028 [GRCh38]
Chr1:160252818 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.878G>C (p.Gly293Ala) single nucleotide variant Inborn genetic diseases [RCV004027060]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV001069039]|not provided [RCV000733366] Chr1:160279573 [GRCh38]
Chr1:160249363 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.70+9_70+10insCGCT insertion Peroxisome biogenesis disorder 12A (Zellweger) [RCV002067135]|not provided [RCV000732614] Chr1:160285045..160285046 [GRCh38]
Chr1:160254835..160254836 [GRCh37]
Chr1:1q23.2		 likely benign|uncertain significance
NM_002857.4(PEX19):c.856T>G (p.Ser286Ala) single nucleotide variant Inborn genetic diseases [RCV002536500]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV001349758]|not provided [RCV000733563] Chr1:160279595 [GRCh38]
Chr1:160249385 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.215A>G (p.Gln72Arg) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001210122]|not provided [RCV000731580] Chr1:160283075 [GRCh38]
Chr1:160252865 [GRCh37]
Chr1:1q23.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_002857.4(PEX19):c.857C>G (p.Ser286Trp) single nucleotide variant PEX19-related disorder [RCV003411675]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV001204972]|not provided [RCV000731649] Chr1:160279594 [GRCh38]
Chr1:160249384 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.369A>G (p.Gln123=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001369940]|not provided [RCV000734191] Chr1:160282480 [GRCh38]
Chr1:160252270 [GRCh37]
Chr1:1q23.2		 likely benign|uncertain significance
NM_002857.4(PEX19):c.726C>T (p.Thr242=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002061014]|not specified [RCV000732873] Chr1:160280115 [GRCh38]
Chr1:160249905 [GRCh37]
Chr1:1q23.2		 benign|likely benign
NM_002857.4(PEX19):c.70+7G>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002060997]|not provided [RCV000730940] Chr1:160285048 [GRCh38]
Chr1:160254838 [GRCh37]
Chr1:1q23.2		 likely benign|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_002857.4(PEX19):c.857C>T (p.Ser286Leu) single nucleotide variant Inborn genetic diseases [RCV004955699]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV001854088]|not provided [RCV000596357] Chr1:160279594 [GRCh38]
Chr1:160249384 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.362C>T (p.Ser121Phe) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000699212] Chr1:160282487 [GRCh38]
Chr1:160252277 [GRCh37]
Chr1:1q23.2		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 copy number loss not provided [RCV000736717] Chr1:159815642..177026983 [GRCh37]
Chr1:1q23.2-25.2		 pathogenic
NC_000001.11:g.160285324A>G single nucleotide variant not provided [RCV001574606] Chr1:160285324 [GRCh38]
Chr1:160255114 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.690G>A (p.Glu230=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001436317] Chr1:160280151 [GRCh38]
Chr1:160249941 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.882A>G (p.Glu294=) single nucleotide variant not provided [RCV000902694] Chr1:160279569 [GRCh38]
Chr1:160249359 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.432+2T>C single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV000778942] Chr1:160282415 [GRCh38]
Chr1:160252205 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.816+7A>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002065663] Chr1:160279794 [GRCh38]
Chr1:160249584 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.582G>A (p.Glu194=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002544938] Chr1:160282051 [GRCh38]
Chr1:160251841 [GRCh37]
Chr1:1q23.2		 likely benign
GRCh37/hg19 1q23.2-23.3(chr1:159808188-161011163)x3 copy number gain not provided [RCV000846649] Chr1:159808188..161011163 [GRCh37]
Chr1:1q23.2-23.3		 uncertain significance
NM_002857.4(PEX19):c.*138C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001096952] Chr1:160279413 [GRCh38]
Chr1:160249203 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*1013G>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001098607] Chr1:160278538 [GRCh38]
Chr1:160248328 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*1471A>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001096848]|not provided [RCV004714179] Chr1:160278080 [GRCh38]
Chr1:160247870 [GRCh37]
Chr1:1q23.2		 benign
GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1 copy number loss not provided [RCV000848773] Chr1:157321299..167391423 [GRCh37]
Chr1:1q23.1-24.2		 pathogenic
NM_002857.4(PEX19):c.536T>G (p.Met179Arg) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001233632] Chr1:160282097 [GRCh38]
Chr1:160251887 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.366A>G (p.Gln122=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001225405] Chr1:160282483 [GRCh38]
Chr1:160252273 [GRCh37]
Chr1:1q23.2		 likely benign|uncertain significance
NM_002857.4(PEX19):c.594G>C (p.Lys198Asn) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001228748] Chr1:160282039 [GRCh38]
Chr1:160251829 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.40G>C (p.Ala14Pro) single nucleotide variant Inborn genetic diseases [RCV002553974]|PEX19-related disorder [RCV004740556]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV001065462] Chr1:160285085 [GRCh38]
Chr1:160254875 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*582G>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001102359] Chr1:160278969 [GRCh38]
Chr1:160248759 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.346+14A>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001098697]|not provided [RCV004714180] Chr1:160282930 [GRCh38]
Chr1:160252720 [GRCh37]
Chr1:1q23.2		 benign|likely benign
NM_002857.4(PEX19):c.*2417C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001100262]|not provided [RCV004715382] Chr1:160277134 [GRCh38]
Chr1:160246924 [GRCh37]
Chr1:1q23.2		 benign
NM_002857.4(PEX19):c.594+257T>C single nucleotide variant not provided [RCV001652041] Chr1:160281782 [GRCh38]
Chr1:160251572 [GRCh37]
Chr1:1q23.2		 benign
NM_002857.4(PEX19):c.*2413C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001100263] Chr1:160277138 [GRCh38]
Chr1:160246928 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.504A>G (p.Glu168=) single nucleotide variant PEX19-related disorder [RCV003933017]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV002065848] Chr1:160282129 [GRCh38]
Chr1:160251919 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.46A>T (p.Arg16Trp) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003106727] Chr1:160285079 [GRCh38]
Chr1:160254869 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*716C>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001102358] Chr1:160278835 [GRCh38]
Chr1:160248625 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*1462C>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001096849] Chr1:160278089 [GRCh38]
Chr1:160247879 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*2383C>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001100264] Chr1:160277168 [GRCh38]
Chr1:160246958 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.667A>G (p.Ser223Gly) single nucleotide variant Inborn genetic diseases [RCV003160550]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV001066713] Chr1:160280174 [GRCh38]
Chr1:160249964 [GRCh37]
Chr1:1q23.2		 likely benign|uncertain significance
NM_002857.4(PEX19):c.*971G>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001100383] Chr1:160278580 [GRCh38]
Chr1:160248370 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*864C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001100384]|not provided [RCV004691367] Chr1:160278687 [GRCh38]
Chr1:160248477 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*2224G>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001102253] Chr1:160277327 [GRCh38]
Chr1:160247117 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.594+37T>C single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001788617]|not provided [RCV001611444] Chr1:160282002 [GRCh38]
Chr1:160251792 [GRCh37]
Chr1:1q23.2		 benign
NC_000001.11:g.160285213G>A single nucleotide variant not provided [RCV001666040] Chr1:160285213 [GRCh38]
Chr1:160255003 [GRCh37]
Chr1:1q23.2		 benign
NM_002857.4(PEX19):c.594+155G>T single nucleotide variant not provided [RCV001666388] Chr1:160281884 [GRCh38]
Chr1:160251674 [GRCh37]
Chr1:1q23.2		 benign
NM_002857.4(PEX19):c.*1802G>C single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001096847] Chr1:160277749 [GRCh38]
Chr1:160247539 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.41C>T (p.Ala14Val) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001207747] Chr1:160285084 [GRCh38]
Chr1:160254874 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*1145C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001098605] Chr1:160278406 [GRCh38]
Chr1:160248196 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*1069G>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001098606] Chr1:160278482 [GRCh38]
Chr1:160248272 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.149C>A (p.Pro50His) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001100512] Chr1:160283561 [GRCh38]
Chr1:160253351 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.3(PEX19):c.-17A>C single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001100513] Chr1:160285141 [GRCh38]
Chr1:160254931 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.*741C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001100385] Chr1:160278810 [GRCh38]
Chr1:160248600 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.272T>C (p.Met91Thr) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001057043] Chr1:160283018 [GRCh38]
Chr1:160252808 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.424G>C (p.Asp142His) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001063372] Chr1:160282425 [GRCh38]
Chr1:160252215 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.25A>G (p.Ser9Gly) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001335072] Chr1:160285100 [GRCh38]
Chr1:160254890 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.706A>G (p.Thr236Ala) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001907664] Chr1:160280135 [GRCh38]
Chr1:160249925 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.187C>G (p.Leu63Val) single nucleotide variant Inborn genetic diseases [RCV005385031]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV001314148] Chr1:160283103 [GRCh38]
Chr1:160252893 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.37G>C (p.Glu13Gln) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001325050] Chr1:160285088 [GRCh38]
Chr1:160254878 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.526C>G (p.Gln176Glu) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001330987] Chr1:160282107 [GRCh38]
Chr1:160251897 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.129G>A (p.Thr43=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001316968] Chr1:160283581 [GRCh38]
Chr1:160253371 [GRCh37]
Chr1:1q23.2		 likely benign|uncertain significance
NM_002857.4(PEX19):c.23G>T (p.Cys8Phe) single nucleotide variant PEX19-related disorder [RCV003399079]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV001303928] Chr1:160285102 [GRCh38]
Chr1:160254892 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.619C>G (p.Arg207Gly) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001313468] Chr1:160280222 [GRCh38]
Chr1:160250012 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.547C>T (p.Leu183Phe) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001322821] Chr1:160282086 [GRCh38]
Chr1:160251876 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.395C>T (p.Thr132Ile) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001322888] Chr1:160282454 [GRCh38]
Chr1:160252244 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.69A>G (p.Glu23=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001316497] Chr1:160285056 [GRCh38]
Chr1:160254846 [GRCh37]
Chr1:1q23.2		 likely benign|uncertain significance
NM_002857.4(PEX19):c.517C>T (p.Pro173Ser) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001327388] Chr1:160282116 [GRCh38]
Chr1:160251906 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.772C>G (p.Leu258Val) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001347007] Chr1:160279845 [GRCh38]
Chr1:160249635 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.143C>T (p.Ser48Leu) single nucleotide variant Inborn genetic diseases [RCV005385047]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV001342909] Chr1:160283567 [GRCh38]
Chr1:160253357 [GRCh37]
Chr1:1q23.2		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_002857.4(PEX19):c.23G>A (p.Cys8Tyr) single nucleotide variant PEX19-related disorder [RCV003416275]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV001367652] Chr1:160285102 [GRCh38]
Chr1:160254892 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.842A>G (p.Asp281Gly) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001363928] Chr1:160279609 [GRCh38]
Chr1:160249399 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.886T>C (p.Cys296Arg) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001350911] Chr1:160279565 [GRCh38]
Chr1:160249355 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.17A>G (p.Glu6Gly) single nucleotide variant Inborn genetic diseases [RCV004960748]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV001314267] Chr1:160285108 [GRCh38]
Chr1:160254898 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.242C>T (p.Ser81Phe) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001296496] Chr1:160283048 [GRCh38]
Chr1:160252838 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.700G>T (p.Ala234Ser) single nucleotide variant Inborn genetic diseases [RCV004952835]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV001368152] Chr1:160280141 [GRCh38]
Chr1:160249931 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.88G>A (p.Asp30Asn) single nucleotide variant Inborn genetic diseases [RCV003382558]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV001365473] Chr1:160283622 [GRCh38]
Chr1:160253412 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.619C>T (p.Arg207Trp) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001295050] Chr1:160280222 [GRCh38]
Chr1:160250012 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.432+12G>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001492455] Chr1:160282405 [GRCh38]
Chr1:160252195 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.397C>T (p.Leu133=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001442884] Chr1:160282452 [GRCh38]
Chr1:160252242 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.346+2T>C single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001377207] Chr1:160282942 [GRCh38]
Chr1:160252732 [GRCh37]
Chr1:1q23.2		 likely pathogenic
NM_002857.4(PEX19):c.816+14A>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001412230] Chr1:160279787 [GRCh38]
Chr1:160249577 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.772-8T>C single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001436623] Chr1:160279853 [GRCh38]
Chr1:160249643 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.771+18C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001401360] Chr1:160280052 [GRCh38]
Chr1:160249842 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.234A>G (p.Glu78=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001408958] Chr1:160283056 [GRCh38]
Chr1:160252846 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.594+11T>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001461131] Chr1:160282028 [GRCh38]
Chr1:160251818 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.546A>G (p.Leu182=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001485729] Chr1:160282087 [GRCh38]
Chr1:160251877 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.21C>T (p.Gly7=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001454260] Chr1:160285104 [GRCh38]
Chr1:160254894 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.181-46T>C single nucleotide variant not provided [RCV001666560] Chr1:160283155 [GRCh38]
Chr1:160252945 [GRCh37]
Chr1:1q23.2		 benign
NM_002857.4(PEX19):c.70+9C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001499226] Chr1:160285046 [GRCh38]
Chr1:160254836 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.552C>T (p.Ser184=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001469079] Chr1:160282081 [GRCh38]
Chr1:160251871 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.12T>C (p.Ala4=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001466994] Chr1:160285113 [GRCh38]
Chr1:160254903 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.42G>C (p.Ala14=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001453597] Chr1:160285083 [GRCh38]
Chr1:160254873 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.786C>T (p.Gly262=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001495762] Chr1:160279831 [GRCh38]
Chr1:160249621 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.181-2A>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001377337] Chr1:160283111 [GRCh38]
Chr1:160252901 [GRCh37]
Chr1:1q23.2		 likely pathogenic
NM_002857.4(PEX19):c.346+1G>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001379402] Chr1:160282943 [GRCh38]
Chr1:160252733 [GRCh37]
Chr1:1q23.2		 likely pathogenic
NM_002857.4(PEX19):c.735G>A (p.Lys245=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001501373] Chr1:160280106 [GRCh38]
Chr1:160249896 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.180+1G>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001782602] Chr1:160283529 [GRCh38]
Chr1:160253319 [GRCh37]
Chr1:1q23.2		 likely pathogenic
NM_002857.4(PEX19):c.152_155delinsG (p.Gln51_Lys52delinsArg) indel not specified [RCV001779517] Chr1:160283555..160283558 [GRCh38]
Chr1:160253345..160253348 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.51A>C (p.Glu17Asp) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001864415] Chr1:160285074 [GRCh38]
Chr1:160254864 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.190T>A (p.Phe64Ile) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001892930] Chr1:160283100 [GRCh38]
Chr1:160252890 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.484A>C (p.Met162Leu) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001970587] Chr1:160282149 [GRCh38]
Chr1:160251939 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.788A>G (p.His263Arg) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001895284] Chr1:160279829 [GRCh38]
Chr1:160249619 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.457C>T (p.Leu153=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001890234] Chr1:160282176 [GRCh38]
Chr1:160251966 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.262G>C (p.Glu88Gln) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002008015] Chr1:160283028 [GRCh38]
Chr1:160252818 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.45C>G (p.Asp15Glu) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001929701] Chr1:160285080 [GRCh38]
Chr1:160254870 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.61C>G (p.Leu21Val) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001986632] Chr1:160285064 [GRCh38]
Chr1:160254854 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.57G>C (p.Glu19Asp) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001890620] Chr1:160285068 [GRCh38]
Chr1:160254858 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.532A>G (p.Ile178Val) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002044722] Chr1:160282101 [GRCh38]
Chr1:160251891 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.621G>A (p.Arg207=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001968199] Chr1:160280220 [GRCh38]
Chr1:160250010 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.771+5G>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001985048] Chr1:160280065 [GRCh38]
Chr1:160249855 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.166G>A (p.Gly56Arg) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001889895] Chr1:160283544 [GRCh38]
Chr1:160253334 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.441C>T (p.Ser147=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002042607] Chr1:160282192 [GRCh38]
Chr1:160251982 [GRCh37]
Chr1:1q23.2		 likely benign|uncertain significance
NM_002857.4(PEX19):c.808G>A (p.Gly270Arg) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001928756] Chr1:160279809 [GRCh38]
Chr1:160249599 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.110C>T (p.Ala37Val) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001928768] Chr1:160283600 [GRCh38]
Chr1:160253390 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.200A>C (p.Gln67Pro) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002041226] Chr1:160283090 [GRCh38]
Chr1:160252880 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.365A>G (p.Gln122Arg) single nucleotide variant Inborn genetic diseases [RCV003264306]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV001948890] Chr1:160282484 [GRCh38]
Chr1:160252274 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.70+5G>C single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001889869] Chr1:160285050 [GRCh38]
Chr1:160254840 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.863C>T (p.Pro288Leu) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002020998] Chr1:160279588 [GRCh38]
Chr1:160249378 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.617A>T (p.His206Leu) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001927392] Chr1:160280224 [GRCh38]
Chr1:160250014 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.152A>G (p.Gln51Arg) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001926894] Chr1:160283558 [GRCh38]
Chr1:160253348 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.615T>A (p.Ser205Arg) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002042726] Chr1:160280226 [GRCh38]
Chr1:160250016 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.413A>G (p.Lys138Arg) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001910322] Chr1:160282436 [GRCh38]
Chr1:160252226 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.617A>G (p.His206Arg) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001943845] Chr1:160280224 [GRCh38]
Chr1:160250014 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.383G>A (p.Cys128Tyr) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001959508] Chr1:160282466 [GRCh38]
Chr1:160252256 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.629T>C (p.Leu210Pro) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001996910] Chr1:160280212 [GRCh38]
Chr1:160250002 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.152AGA[1] (p.Lys52del) microsatellite Peroxisome biogenesis disorder 12A (Zellweger) [RCV001944251] Chr1:160283553..160283555 [GRCh38]
Chr1:160253343..160253345 [GRCh37]
Chr1:1q23.2		 uncertain significance
NC_000001.10:g.(?_160090676)_(160327063_?)dup duplication Familial hemiplegic migraine [RCV002037093]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV002037094] Chr1:160090676..160327063 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.435C>A (p.Asn145Lys) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001898239] Chr1:160282198 [GRCh38]
Chr1:160251988 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.122_123insAGA (p.Thr41_Thr42insAsp) insertion Peroxisome biogenesis disorder 12A (Zellweger) [RCV002048546] Chr1:160283587..160283588 [GRCh38]
Chr1:160253377..160253378 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.895_896del (p.Met299fs) deletion Peroxisome biogenesis disorder 12A (Zellweger) [RCV002026076] Chr1:160279555..160279556 [GRCh38]
Chr1:160249345..160249346 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.193G>A (p.Ala65Thr) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001921601] Chr1:160283097 [GRCh38]
Chr1:160252887 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.351T>G (p.Ser117Arg) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001885008] Chr1:160282498 [GRCh38]
Chr1:160252288 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.644T>C (p.Phe215Ser) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001932178] Chr1:160280197 [GRCh38]
Chr1:160249987 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.181G>A (p.Asp61Asn) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002000738] Chr1:160283109 [GRCh38]
Chr1:160252899 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.76C>A (p.Leu26Ile) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001951682] Chr1:160283634 [GRCh38]
Chr1:160253424 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.442A>G (p.Met148Val) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002029377] Chr1:160282191 [GRCh38]
Chr1:160251981 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.481G>C (p.Gly161Arg) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002051425] Chr1:160282152 [GRCh38]
Chr1:160251942 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.398dup (p.Ser134fs) duplication Peroxisome biogenesis disorder 12A (Zellweger) [RCV001955795] Chr1:160282450..160282451 [GRCh38]
Chr1:160252240..160252241 [GRCh37]
Chr1:1q23.2		 pathogenic
NM_002857.4(PEX19):c.248C>G (p.Ala83Gly) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001973172] Chr1:160283042 [GRCh38]
Chr1:160252832 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.144G>A (p.Ser48=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001995905] Chr1:160283566 [GRCh38]
Chr1:160253356 [GRCh37]
Chr1:1q23.2		 likely benign|uncertain significance
NM_002857.4(PEX19):c.254C>A (p.Ala85Glu) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002011236] Chr1:160283036 [GRCh38]
Chr1:160252826 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.744T>G (p.Phe248Leu) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001933379] Chr1:160280097 [GRCh38]
Chr1:160249887 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.488A>G (p.Asp163Gly) single nucleotide variant Inborn genetic diseases [RCV005382245]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV001919977] Chr1:160282145 [GRCh38]
Chr1:160251935 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.696T>A (p.Phe232Leu) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002027902] Chr1:160280145 [GRCh38]
Chr1:160249935 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.527A>C (p.Gln176Pro) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001935661] Chr1:160282106 [GRCh38]
Chr1:160251896 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.5C>T (p.Ala2Val) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002029446] Chr1:160285120 [GRCh38]
Chr1:160254910 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.19G>A (p.Gly7Ser) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001878793] Chr1:160285106 [GRCh38]
Chr1:160254896 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.347G>A (p.Gly116Asp) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001952088] Chr1:160282502 [GRCh38]
Chr1:160252292 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.348C>T (p.Gly116=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002048435] Chr1:160282501 [GRCh38]
Chr1:160252291 [GRCh37]
Chr1:1q23.2		 likely benign|uncertain significance
NM_002857.4(PEX19):c.338G>T (p.Gly113Val) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001865015] Chr1:160282952 [GRCh38]
Chr1:160252742 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.11C>A (p.Ala4Asp) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001870098] Chr1:160285114 [GRCh38]
Chr1:160254904 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.367C>G (p.Gln123Glu) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001905061] Chr1:160282482 [GRCh38]
Chr1:160252272 [GRCh37]
Chr1:1q23.2		 uncertain significance
NC_000001.10:g.(?_158581054)_(162750036_?)dup duplication Autoimmune interstitial lung disease-arthritis syndrome [RCV001918952]|not provided [RCV001918953] Chr1:158581054..162750036 [GRCh37]
Chr1:1q23.1-23.3		 uncertain significance|no classifications from unflagged records
NM_002857.4(PEX19):c.694T>G (p.Phe232Val) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001938180] Chr1:160280147 [GRCh38]
Chr1:160249937 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.817-9C>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002013001] Chr1:160279643 [GRCh38]
Chr1:160249433 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.161C>T (p.Ser54Leu) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002034201]|Peroxisome biogenesis disorder [RCV005406281] Chr1:160283549 [GRCh38]
Chr1:160253339 [GRCh37]
Chr1:1q23.2		 pathogenic|likely pathogenic
NM_002857.4(PEX19):c.553A>G (p.Lys185Glu) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001951793] Chr1:160282080 [GRCh38]
Chr1:160251870 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.817C>A (p.Pro273Thr) single nucleotide variant Inborn genetic diseases [RCV004955847]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV001951956] Chr1:160279634 [GRCh38]
Chr1:160249424 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.148C>A (p.Pro50Thr) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002013269] Chr1:160283562 [GRCh38]
Chr1:160253352 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.887G>A (p.Cys296Tyr) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002032879] Chr1:160279564 [GRCh38]
Chr1:160249354 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.896T>C (p.Met299Thr) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV001974768] Chr1:160279555 [GRCh38]
Chr1:160249345 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.31G>C (p.Gly11Arg) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002012589] Chr1:160285094 [GRCh38]
Chr1:160254884 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.294del (p.Glu98fs) deletion Peroxisome biogenesis disorder 12A (Zellweger) [RCV001902839] Chr1:160282996 [GRCh38]
Chr1:160252786 [GRCh37]
Chr1:1q23.2		 pathogenic
NM_002857.4(PEX19):c.10G>T (p.Ala4Ser) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002012789] Chr1:160285115 [GRCh38]
Chr1:160254905 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.506G>A (p.Gly169Glu) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002013801] Chr1:160282127 [GRCh38]
Chr1:160251917 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.433-6A>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002091774] Chr1:160282206 [GRCh38]
Chr1:160251996 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.783A>G (p.Leu261=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002168620]|not provided [RCV004711830] Chr1:160279834 [GRCh38]
Chr1:160249624 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.347-19C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002207281] Chr1:160282521 [GRCh38]
Chr1:160252311 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.817-19C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002110457] Chr1:160279653 [GRCh38]
Chr1:160249443 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.347-8T>C single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002165647] Chr1:160282510 [GRCh38]
Chr1:160252300 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.132C>T (p.Ala44=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002170519] Chr1:160283578 [GRCh38]
Chr1:160253368 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.198C>T (p.Ser66=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002192501] Chr1:160283092 [GRCh38]
Chr1:160252882 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.816+15T>C single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002089024] Chr1:160279786 [GRCh38]
Chr1:160249576 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.181-6C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002187992] Chr1:160283115 [GRCh38]
Chr1:160252905 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.433-10T>C single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002130055] Chr1:160282210 [GRCh38]
Chr1:160252000 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.594+9A>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002127894] Chr1:160282030 [GRCh38]
Chr1:160251820 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.70+9C>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002167631] Chr1:160285046 [GRCh38]
Chr1:160254836 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.306G>A (p.Val102=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002145335] Chr1:160282984 [GRCh38]
Chr1:160252774 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.249C>T (p.Ala83=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002085457] Chr1:160283041 [GRCh38]
Chr1:160252831 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.347-13T>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002153687] Chr1:160282515 [GRCh38]
Chr1:160252305 [GRCh37]
Chr1:1q23.2		 benign
NM_002857.4(PEX19):c.347-20G>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002187084] Chr1:160282522 [GRCh38]
Chr1:160252312 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.816+13T>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002174500] Chr1:160279788 [GRCh38]
Chr1:160249578 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.489C>T (p.Asp163=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002171436] Chr1:160282144 [GRCh38]
Chr1:160251934 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.181-15A>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002077039] Chr1:160283124 [GRCh38]
Chr1:160252914 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.772-9del deletion Peroxisome biogenesis disorder 12A (Zellweger) [RCV002171942] Chr1:160279854 [GRCh38]
Chr1:160249644 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.70+18del deletion Peroxisome biogenesis disorder 12A (Zellweger) [RCV002110309] Chr1:160285037 [GRCh38]
Chr1:160254827 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.595-18C>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002171402] Chr1:160280264 [GRCh38]
Chr1:160250054 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.181-16C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002172373] Chr1:160283125 [GRCh38]
Chr1:160252915 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.817-13A>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002080623] Chr1:160279647 [GRCh38]
Chr1:160249437 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.595-12C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002209281] Chr1:160280258 [GRCh38]
Chr1:160250048 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.71-15CT[3] microsatellite Peroxisome biogenesis disorder 12A (Zellweger) [RCV002127711] Chr1:160283650..160283651 [GRCh38]
Chr1:160253440..160253441 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.71-16T>C single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002130695] Chr1:160283655 [GRCh38]
Chr1:160253445 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.433-11G>C single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002071723] Chr1:160282211 [GRCh38]
Chr1:160252001 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.595-17A>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002131271] Chr1:160280263 [GRCh38]
Chr1:160250053 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.219A>G (p.Glu73=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002121082] Chr1:160283071 [GRCh38]
Chr1:160252861 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.70+8C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002081307] Chr1:160285047 [GRCh38]
Chr1:160254837 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.447G>A (p.Ser149=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002201614] Chr1:160282186 [GRCh38]
Chr1:160251976 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.867A>G (p.Pro289=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002099981] Chr1:160279584 [GRCh38]
Chr1:160249374 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.180+13C>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002164746] Chr1:160283517 [GRCh38]
Chr1:160253307 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.595-19C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002183806] Chr1:160280265 [GRCh38]
Chr1:160250055 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.70+9C>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002176337] Chr1:160285046 [GRCh38]
Chr1:160254836 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.174T>G (p.Thr58=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002176673] Chr1:160283536 [GRCh38]
Chr1:160253326 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.774A>G (p.Leu258=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002082958] Chr1:160279843 [GRCh38]
Chr1:160249633 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.225C>T (p.Phe75=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002099806] Chr1:160283065 [GRCh38]
Chr1:160252855 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.192C>T (p.Phe64=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002099852] Chr1:160283098 [GRCh38]
Chr1:160252888 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.432+15G>C single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002142265] Chr1:160282402 [GRCh38]
Chr1:160252192 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.346+15G>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002141000] Chr1:160282929 [GRCh38]
Chr1:160252719 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.772-7T>C single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002161521] Chr1:160279852 [GRCh38]
Chr1:160249642 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.567C>T (p.Tyr189=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002219984] Chr1:160282066 [GRCh38]
Chr1:160251856 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.181-4G>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002121213] Chr1:160283113 [GRCh38]
Chr1:160252903 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.630A>G (p.Leu210=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002119503] Chr1:160280211 [GRCh38]
Chr1:160250001 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.595-14CT[2] microsatellite Peroxisome biogenesis disorder 12A (Zellweger) [RCV002217653] Chr1:160280255..160280256 [GRCh38]
Chr1:160250045..160250046 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.346+7A>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002178261] Chr1:160282937 [GRCh38]
Chr1:160252727 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.771+12T>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002122609] Chr1:160280058 [GRCh38]
Chr1:160249848 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.281T>A (p.Leu94Ter) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003131168]|Zellweger spectrum disorders [RCV004017971] Chr1:160283009 [GRCh38]
Chr1:160252799 [GRCh37]
Chr1:1q23.2		 likely pathogenic
GRCh37/hg19 1q23.2-23.3(chr1:159778364-160770515)x3 copy number gain not provided [RCV002474924] Chr1:159778364..160770515 [GRCh37]
Chr1:1q23.2-23.3		 uncertain significance
NM_002857.4(PEX19):c.634C>A (p.Pro212Thr) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002303645] Chr1:160280207 [GRCh38]
Chr1:160249997 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.563T>C (p.Leu188Pro) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002299434] Chr1:160282070 [GRCh38]
Chr1:160251860 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.212T>A (p.Phe71Tyr) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002303577] Chr1:160283078 [GRCh38]
Chr1:160252868 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.284C>A (p.Ala95Asp) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002299235] Chr1:160283006 [GRCh38]
Chr1:160252796 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.883C>A (p.Gln295Lys) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002300389] Chr1:160279568 [GRCh38]
Chr1:160249358 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.779A>G (p.Asp260Gly) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002731154] Chr1:160279838 [GRCh38]
Chr1:160249628 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.524T>C (p.Met175Thr) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002837612] Chr1:160282109 [GRCh38]
Chr1:160251899 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.118T>G (p.Ser40Ala) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002996263] Chr1:160283592 [GRCh38]
Chr1:160253382 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.474G>C (p.Glu158Asp) single nucleotide variant Inborn genetic diseases [RCV004654096]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV003017566] Chr1:160282159 [GRCh38]
Chr1:160251949 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.360C>T (p.Thr120=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002838829] Chr1:160282489 [GRCh38]
Chr1:160252279 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.128C>T (p.Thr43Met) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002730294] Chr1:160283582 [GRCh38]
Chr1:160253372 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.397C>G (p.Leu133Val) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002904755] Chr1:160282452 [GRCh38]
Chr1:160252242 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.147G>T (p.Gly49=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002858569] Chr1:160283563 [GRCh38]
Chr1:160253353 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.699G>T (p.Glu233Asp) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002618204] Chr1:160280142 [GRCh38]
Chr1:160249932 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.94G>C (p.Ala32Pro) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002824367] Chr1:160283616 [GRCh38]
Chr1:160253406 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.18A>T (p.Glu6Asp) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002913209] Chr1:160285107 [GRCh38]
Chr1:160254897 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.661C>G (p.Gln221Glu) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003038398] Chr1:160280180 [GRCh38]
Chr1:160249970 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.30C>A (p.Val10=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003055326] Chr1:160285095 [GRCh38]
Chr1:160254885 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.237G>T (p.Leu79=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003080076] Chr1:160283053 [GRCh38]
Chr1:160252843 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.627T>C (p.Ser209=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002621747] Chr1:160280214 [GRCh38]
Chr1:160250004 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.180+16C>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002638703] Chr1:160283514 [GRCh38]
Chr1:160253304 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.180+13C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002846367] Chr1:160283517 [GRCh38]
Chr1:160253307 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.869G>C (p.Gly290Ala) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002923334] Chr1:160279582 [GRCh38]
Chr1:160249372 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.13G>A (p.Glu5Lys) single nucleotide variant Inborn genetic diseases [RCV003089584]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV003078662] Chr1:160285112 [GRCh38]
Chr1:160254902 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.94G>T (p.Ala32Ser) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003018630] Chr1:160283616 [GRCh38]
Chr1:160253406 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.485T>C (p.Met162Thr) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003052874] Chr1:160282148 [GRCh38]
Chr1:160251938 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.751G>A (p.Val251Met) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002795820] Chr1:160280090 [GRCh38]
Chr1:160249880 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.447G>C (p.Ser149=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002889411] Chr1:160282186 [GRCh38]
Chr1:160251976 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.692A>G (p.Gln231Arg) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002645616] Chr1:160280149 [GRCh38]
Chr1:160249939 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.759T>A (p.Asp253Glu) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003024867] Chr1:160280082 [GRCh38]
Chr1:160249872 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.784G>A (p.Gly262Ser) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002918305] Chr1:160279833 [GRCh38]
Chr1:160249623 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.6C>T (p.Ala2=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003043043] Chr1:160285119 [GRCh38]
Chr1:160254909 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.9del (p.Ala4fs) deletion Peroxisome biogenesis disorder 12A (Zellweger) [RCV002829597] Chr1:160285116 [GRCh38]
Chr1:160254906 [GRCh37]
Chr1:1q23.2		 pathogenic
NM_002857.4(PEX19):c.530G>A (p.Ser177Asn) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003023704] Chr1:160282103 [GRCh38]
Chr1:160251893 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.438C>T (p.Ser146=) single nucleotide variant PEX19-related disorder [RCV003898707]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV003024636] Chr1:160282195 [GRCh38]
Chr1:160251985 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.679A>G (p.Lys227Glu) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002982597] Chr1:160280162 [GRCh38]
Chr1:160249952 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.878G>A (p.Gly293Asp) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002595287] Chr1:160279573 [GRCh38]
Chr1:160249363 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.305T>C (p.Val102Ala) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002954297] Chr1:160282985 [GRCh38]
Chr1:160252775 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.225C>G (p.Phe75Leu) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002786556] Chr1:160283065 [GRCh38]
Chr1:160252855 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.384C>G (p.Cys128Trp) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003039763] Chr1:160282465 [GRCh38]
Chr1:160252255 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.172A>G (p.Thr58Ala) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002918414] Chr1:160283538 [GRCh38]
Chr1:160253328 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.574C>G (p.Leu192Val) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003057835] Chr1:160282059 [GRCh38]
Chr1:160251849 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.594+15A>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002918585] Chr1:160282024 [GRCh38]
Chr1:160251814 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.69A>T (p.Glu23Asp) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003022736] Chr1:160285056 [GRCh38]
Chr1:160254846 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.573A>C (p.Ser191=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002766139] Chr1:160282060 [GRCh38]
Chr1:160251850 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.181-12C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003005640] Chr1:160283121 [GRCh38]
Chr1:160252911 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.754C>A (p.Leu252Met) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002770613] Chr1:160280087 [GRCh38]
Chr1:160249877 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.484A>G (p.Met162Val) single nucleotide variant Inborn genetic diseases [RCV005382555]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV003088162] Chr1:160282149 [GRCh38]
Chr1:160251939 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.499G>A (p.Gly167Arg) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002937071] Chr1:160282134 [GRCh38]
Chr1:160251924 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.68A>C (p.Glu23Ala) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003047861] Chr1:160285057 [GRCh38]
Chr1:160254847 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.475G>A (p.Gly159Arg) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003065133] Chr1:160282158 [GRCh38]
Chr1:160251948 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.70+2T>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003047131] Chr1:160285053 [GRCh38]
Chr1:160254843 [GRCh37]
Chr1:1q23.2		 likely pathogenic
NM_002857.4(PEX19):c.432+3G>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003087091] Chr1:160282414 [GRCh38]
Chr1:160252204 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.346+9A>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003028770] Chr1:160282935 [GRCh38]
Chr1:160252725 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.71-15C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003009913] Chr1:160283654 [GRCh38]
Chr1:160253444 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.347-5C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002898975] Chr1:160282507 [GRCh38]
Chr1:160252297 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.98A>G (p.Lys33Arg) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002833922] Chr1:160283612 [GRCh38]
Chr1:160253402 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.708C>T (p.Thr236=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003028947] Chr1:160280133 [GRCh38]
Chr1:160249923 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.105C>T (p.Ser35=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002577704] Chr1:160283605 [GRCh38]
Chr1:160253395 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.302T>G (p.Leu101Arg) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002600628] Chr1:160282988 [GRCh38]
Chr1:160252778 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.395C>G (p.Thr132Arg) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002922855] Chr1:160282454 [GRCh38]
Chr1:160252244 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.483C>T (p.Gly161=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002833024] Chr1:160282150 [GRCh38]
Chr1:160251940 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.744T>A (p.Phe248Leu) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003047444] Chr1:160280097 [GRCh38]
Chr1:160249887 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.543C>T (p.Asn181=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002770606] Chr1:160282090 [GRCh38]
Chr1:160251880 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.446C>T (p.Ser149Leu) single nucleotide variant PEX19-related disorder [RCV003403990]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV002962976] Chr1:160282187 [GRCh38]
Chr1:160251977 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.526C>T (p.Gln176Ter) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003011548] Chr1:160282107 [GRCh38]
Chr1:160251897 [GRCh37]
Chr1:1q23.2		 pathogenic
NM_002857.4(PEX19):c.211T>C (p.Phe71Leu) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002811635] Chr1:160283079 [GRCh38]
Chr1:160252869 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.575T>C (p.Leu192Pro) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002810935] Chr1:160282058 [GRCh38]
Chr1:160251848 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.859G>T (p.Gly287Cys) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003044195] Chr1:160279592 [GRCh38]
Chr1:160249382 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.854T>C (p.Leu285Pro) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003026856] Chr1:160279597 [GRCh38]
Chr1:160249387 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.600A>G (p.Pro200=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003049911] Chr1:160280241 [GRCh38]
Chr1:160250031 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.199C>G (p.Gln67Glu) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003066536] Chr1:160283091 [GRCh38]
Chr1:160252881 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.513C>T (p.Ile171=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV002607653] Chr1:160282120 [GRCh38]
Chr1:160251910 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.239C>T (p.Ala80Val) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003073250] Chr1:160283051 [GRCh38]
Chr1:160252841 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.158G>A (p.Arg53Lys) single nucleotide variant Inborn genetic diseases [RCV003208921] Chr1:160283552 [GRCh38]
Chr1:160253342 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.212T>G (p.Phe71Cys) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003134794] Chr1:160283078 [GRCh38]
Chr1:160252868 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.419C>T (p.Ala140Val) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003134795] Chr1:160282430 [GRCh38]
Chr1:160252220 [GRCh37]
Chr1:1q23.2		 uncertain significance
GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1 copy number loss not provided [RCV003483944] Chr1:158001058..162858285 [GRCh37]
Chr1:1q23.1-23.3		 likely pathogenic
NM_002857.4(PEX19):c.461C>G (p.Thr154Ser) single nucleotide variant PEX19-related disorder [RCV003397268] Chr1:160282172 [GRCh38]
Chr1:160251962 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.144G>C (p.Ser48=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003649819] Chr1:160283566 [GRCh38]
Chr1:160253356 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.477G>A (p.Gly159=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003650904] Chr1:160282156 [GRCh38]
Chr1:160251946 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.817-6C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003652630] Chr1:160279640 [GRCh38]
Chr1:160249430 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.150C>T (p.Pro50=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003849303] Chr1:160283560 [GRCh38]
Chr1:160253350 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.843T>C (p.Asp281=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003650970] Chr1:160279608 [GRCh38]
Chr1:160249398 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.816+20C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003652629] Chr1:160279781 [GRCh38]
Chr1:160249571 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.577A>T (p.Lys193Ter) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003653746] Chr1:160282056 [GRCh38]
Chr1:160251846 [GRCh37]
Chr1:1q23.2		 pathogenic
NM_002857.4(PEX19):c.181-9C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003649556] Chr1:160283118 [GRCh38]
Chr1:160252908 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.594+1G>C single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003649681] Chr1:160282038 [GRCh38]
Chr1:160251828 [GRCh37]
Chr1:1q23.2		 likely pathogenic
NM_002857.4(PEX19):c.825C>T (p.Gly275=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003650949] Chr1:160279626 [GRCh38]
Chr1:160249416 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.27T>C (p.Ser9=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003650950] Chr1:160285098 [GRCh38]
Chr1:160254888 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.713C>A (p.Thr238Lys) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003652509] Chr1:160280128 [GRCh38]
Chr1:160249918 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.280T>C (p.Leu94=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003651206] Chr1:160283010 [GRCh38]
Chr1:160252800 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.433-15_433-12del deletion Peroxisome biogenesis disorder 12A (Zellweger) [RCV003649467] Chr1:160282212..160282215 [GRCh38]
Chr1:160252002..160252005 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.181-6C>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003651004] Chr1:160283115 [GRCh38]
Chr1:160252905 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.86del (p.Phe29fs) deletion Peroxisome biogenesis disorder 12A (Zellweger) [RCV003652418] Chr1:160283624 [GRCh38]
Chr1:160253414 [GRCh37]
Chr1:1q23.2		 pathogenic
NM_002857.4(PEX19):c.817-18C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003649611] Chr1:160279652 [GRCh38]
Chr1:160249442 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.595-20C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003536411] Chr1:160280266 [GRCh38]
Chr1:160250056 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.186C>A (p.Ala62=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003832265] Chr1:160283104 [GRCh38]
Chr1:160252894 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.387A>G (p.Leu129=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003850319] Chr1:160282462 [GRCh38]
Chr1:160252252 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.235C>T (p.Leu79=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003538223] Chr1:160283055 [GRCh38]
Chr1:160252845 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.654T>C (p.Tyr218=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003538319] Chr1:160280187 [GRCh38]
Chr1:160249977 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.740G>A (p.Arg247His) single nucleotide variant Inborn genetic diseases [RCV004953311]|Peroxisome biogenesis disorder 12A (Zellweger) [RCV003537765] Chr1:160280101 [GRCh38]
Chr1:160249891 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.354T>C (p.Asp118=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003538149] Chr1:160282495 [GRCh38]
Chr1:160252285 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.433-9C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003538173] Chr1:160282209 [GRCh38]
Chr1:160251999 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.381T>G (p.Ser127=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003847463] Chr1:160282468 [GRCh38]
Chr1:160252258 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.180+15C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003869463] Chr1:160283515 [GRCh38]
Chr1:160253305 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.772-4C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003868150] Chr1:160279849 [GRCh38]
Chr1:160249639 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.633T>C (p.Pro211=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003869001] Chr1:160280208 [GRCh38]
Chr1:160249998 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.772-12C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV003869236] Chr1:160279857 [GRCh38]
Chr1:160249647 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.817-4C>T single nucleotide variant PEX19-related disorder [RCV003969725] Chr1:160279638 [GRCh38]
Chr1:160249428 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.546A>T (p.Leu182=) single nucleotide variant PEX19-related disorder [RCV003896677] Chr1:160282087 [GRCh38]
Chr1:160251877 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.21C>A (p.Gly7=) single nucleotide variant PEX19-related disorder [RCV003894285] Chr1:160285104 [GRCh38]
Chr1:160254894 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.817-8T>G single nucleotide variant PEX19-related disorder [RCV003964165] Chr1:160279642 [GRCh38]
Chr1:160249432 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.130G>C (p.Ala44Pro) single nucleotide variant PEX19-related disorder [RCV003903879] Chr1:160283580 [GRCh38]
Chr1:160253370 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.578A>G (p.Lys193Arg) single nucleotide variant Inborn genetic diseases [RCV004498372] Chr1:160282055 [GRCh38]
Chr1:160251845 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.800A>T (p.Glu267Val) single nucleotide variant Inborn genetic diseases [RCV004498373] Chr1:160279817 [GRCh38]
Chr1:160249607 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.606del (p.Trp202fs) deletion Zellweger spectrum disorders [RCV004018310] Chr1:160280235 [GRCh38]
Chr1:160250025 [GRCh37]
Chr1:1q23.2		 likely pathogenic
NM_002857.4(PEX19):c.531T>A (p.Ser177Arg) single nucleotide variant Inborn genetic diseases [RCV004659870] Chr1:160282102 [GRCh38]
Chr1:160251892 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.824_844dup (p.Asp281_Ala282insGlyLeuAsnPheAspLeuAsp) duplication PEX19-related disorder [RCV004727841] Chr1:160279606..160279607 [GRCh38]
Chr1:160249396..160249397 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.469A>G (p.Met157Val) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV004720661] Chr1:160282164 [GRCh38]
Chr1:160251954 [GRCh37]
Chr1:1q23.2		 likely pathogenic|uncertain significance
NM_002857.4(PEX19):c.130G>A (p.Ala44Thr) single nucleotide variant Inborn genetic diseases [RCV004959474] Chr1:160283580 [GRCh38]
Chr1:160253370 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.67G>C (p.Glu23Gln) single nucleotide variant Inborn genetic diseases [RCV004959475] Chr1:160285058 [GRCh38]
Chr1:160254848 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.169G>A (p.Asp57Asn) single nucleotide variant Inborn genetic diseases [RCV004959476] Chr1:160283541 [GRCh38]
Chr1:160253331 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.331G>A (p.Ala111Thr) single nucleotide variant Inborn genetic diseases [RCV004959473] Chr1:160282959 [GRCh38]
Chr1:160252749 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.693G>T (p.Gln231His) single nucleotide variant Inborn genetic diseases [RCV004959477] Chr1:160280148 [GRCh38]
Chr1:160249938 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.397_400del (p.Leu133fs) deletion Peroxisome biogenesis disorder 12A (Zellweger) [RCV005044318] Chr1:160282449..160282452 [GRCh38]
Chr1:160252239..160252242 [GRCh37]
Chr1:1q23.2		 likely pathogenic
NM_002857.4(PEX19):c.432+8G>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV005196288] Chr1:160282409 [GRCh38]
Chr1:160252199 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.594+6T>C single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV005196538] Chr1:160282033 [GRCh38]
Chr1:160251823 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.222A>G (p.Leu74=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV005173536] Chr1:160283068 [GRCh38]
Chr1:160252858 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.336A>C (p.Ala112=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV005148718] Chr1:160282954 [GRCh38]
Chr1:160252744 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.346+20A>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV005118705] Chr1:160282924 [GRCh38]
Chr1:160252714 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.816+5G>A single nucleotide variant not provided [RCV005243885] Chr1:160279796 [GRCh38]
Chr1:160249586 [GRCh37]
Chr1:1q23.2		 likely pathogenic
NM_002857.4(PEX19):c.181-1G>A single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV005142437] Chr1:160283110 [GRCh38]
Chr1:160252900 [GRCh37]
Chr1:1q23.2		 likely pathogenic
NM_002857.4(PEX19):c.180+14C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV005167431] Chr1:160283516 [GRCh38]
Chr1:160253306 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.72T>C (p.Ser24=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV005143041] Chr1:160283638 [GRCh38]
Chr1:160253428 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.262del (p.Glu88fs) deletion Peroxisome biogenesis disorder 12A (Zellweger) [RCV005160624] Chr1:160283028 [GRCh38]
Chr1:160252818 [GRCh37]
Chr1:1q23.2		 pathogenic
NM_002857.4(PEX19):c.817-15T>G single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV005184285] Chr1:160279649 [GRCh38]
Chr1:160249439 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.816+17T>C single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV005117829] Chr1:160279784 [GRCh38]
Chr1:160249574 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.181-13C>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV005129771] Chr1:160283122 [GRCh38]
Chr1:160252912 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.717C>T (p.Asp239=) single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV005155309] Chr1:160280124 [GRCh38]
Chr1:160249914 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.816+9G>T single nucleotide variant Peroxisome biogenesis disorder 12A (Zellweger) [RCV005123245] Chr1:160279792 [GRCh38]
Chr1:160249582 [GRCh37]
Chr1:1q23.2		 likely benign
NM_002857.4(PEX19):c.760C>A (p.Leu254Ile) single nucleotide variant Inborn genetic diseases [RCV005386976] Chr1:160280081 [GRCh38]
Chr1:160249871 [GRCh37]
Chr1:1q23.2		 uncertain significance
NM_002857.4(PEX19):c.444G>T (p.Met148Ile) single nucleotide variant not specified [RCV005409445] Chr1:160282189 [GRCh38]
Chr1:160251979 [GRCh37]
Chr1:1q23.2		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:5403
Count of miRNA genes:1215
Interacting mature miRNAs:1531
Transcripts:ENST00000368072, ENST00000392220, ENST00000440949, ENST00000462644, ENST00000467711, ENST00000472750, ENST00000485079, ENST00000495624, ENST00000524939, ENST00000532508, ENST00000532516, ENST00000532643, ENST00000533104, ENST00000533699, ENST00000556710
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1357381BW57_HBody weight QTL 57 (human)10.0001Body weightfat free mass after exercise training1140630236166630236Human

Markers in Region
WI-19186  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371160,247,169 - 160,247,453UniSTSGRCh37
Build 361158,513,793 - 158,514,077RGDNCBI36
Celera1133,315,932 - 133,316,216RGD
Cytogenetic Map1q23.2UniSTS
HuRef1131,603,809 - 131,604,093UniSTS
GeneMap99-GB4 RH Map1584.71UniSTS
Whitehead-RH Map1709.9UniSTS
NCBI RH Map11436.5UniSTS
PMC26746P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371160,249,599 - 160,249,940UniSTSGRCh37
Build 361158,516,223 - 158,516,564RGDNCBI36
Celera1133,318,362 - 133,318,703RGD
Cytogenetic Map1q23.2UniSTS
HuRef1131,606,239 - 131,606,580UniSTS
RH70904  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371160,246,640 - 160,246,782UniSTSGRCh37
Build 361158,513,264 - 158,513,406RGDNCBI36
Celera1133,315,403 - 133,315,545RGD
Cytogenetic Map1q23.2UniSTS
HuRef1131,603,280 - 131,603,422UniSTS
GeneMap99-GB4 RH Map1576.12UniSTS
NCBI RH Map11436.5UniSTS
RH67926  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371160,246,792 - 160,246,873UniSTSGRCh37
Build 361158,513,416 - 158,513,497RGDNCBI36
Celera1133,315,555 - 133,315,636RGD
Cytogenetic Map1q23.2UniSTS
HuRef1131,603,432 - 131,603,513UniSTS
GeneMap99-GB4 RH Map1576.12UniSTS
NCBI RH Map11436.5UniSTS
PEX19_3422  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371160,246,431 - 160,247,290UniSTSGRCh37
Build 361158,513,055 - 158,513,914RGDNCBI36
Celera1133,315,194 - 133,316,053RGD
HuRef1131,603,071 - 131,603,930UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2558 2789 2269 5131 1946 2788 8 794 2378 637 2358 8146 6941 74 3809 1 1014 1941 1861 179 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_036492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_036493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB018541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB062286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY434724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB993363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD557913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC400252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC405033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X75535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y09048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000368072   ⟹   ENSP00000357051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1160,276,807 - 160,285,133 (-)Ensembl
Ensembl Acc Id: ENST00000392220   ⟹   ENSP00000376054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1160,280,076 - 160,284,231 (-)Ensembl
Ensembl Acc Id: ENST00000462644   ⟹   ENSP00000435896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1160,279,484 - 160,284,223 (-)Ensembl
Ensembl Acc Id: ENST00000467711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1160,277,302 - 160,280,082 (-)Ensembl
Ensembl Acc Id: ENST00000472750   ⟹   ENSP00000434633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1160,276,867 - 160,285,154 (-)Ensembl
Ensembl Acc Id: ENST00000485079   ⟹   ENSP00000450870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1160,240,142 - 160,282,458 (-)Ensembl
Ensembl Acc Id: ENST00000495624   ⟹   ENSP00000434567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1160,279,395 - 160,282,144 (-)Ensembl
Ensembl Acc Id: ENST00000524939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1160,282,318 - 160,285,141 (-)Ensembl
Ensembl Acc Id: ENST00000532508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1160,279,296 - 160,285,096 (-)Ensembl
Ensembl Acc Id: ENST00000532516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1160,280,176 - 160,282,519 (-)Ensembl
Ensembl Acc Id: ENST00000532643   ⟹   ENSP00000435915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1160,279,493 - 160,285,146 (-)Ensembl
Ensembl Acc Id: ENST00000533104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1160,282,106 - 160,285,133 (-)Ensembl
Ensembl Acc Id: ENST00000533699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1160,282,071 - 160,286,348 (-)Ensembl
Ensembl Acc Id: ENST00000556710   ⟹   ENSP00000451235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1160,217,464 - 160,285,130 (-)Ensembl
Ensembl Acc Id: ENST00000647676   ⟹   ENSP00000497162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1160,216,800 - 160,280,138 (-)Ensembl
Ensembl Acc Id: ENST00000857246   ⟹   ENSP00000527305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1160,278,484 - 160,285,135 (-)Ensembl
Ensembl Acc Id: ENST00000920352   ⟹   ENSP00000590411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1160,276,874 - 160,285,132 (-)Ensembl
Ensembl Acc Id: ENST00000920353   ⟹   ENSP00000590412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1160,278,483 - 160,285,136 (-)Ensembl
RefSeq Acc Id: NM_001193644   ⟹   NP_001180573
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381160,276,809 - 160,285,151 (-)NCBI
GRCh371160,246,599 - 160,254,941 (-)ENTREZGENE
HuRef1131,603,239 - 131,611,581 (-)ENTREZGENE
CHM1_11161,641,944 - 161,650,286 (-)NCBI
T2T-CHM13v2.01159,413,885 - 159,422,227 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002857   ⟹   NP_002848
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381160,276,807 - 160,285,133 (-)NCBI
GRCh371160,246,599 - 160,254,941 (-)ENTREZGENE
Build 361158,513,226 - 158,521,555 (-)NCBI Archive
HuRef1131,603,239 - 131,611,581 (-)ENTREZGENE
CHM1_11161,641,944 - 161,650,286 (-)NCBI
T2T-CHM13v2.01159,413,883 - 159,422,209 (-)NCBI
Sequence:
RefSeq Acc Id: NR_036492
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381160,276,807 - 160,285,133 (-)NCBI
GRCh371160,246,599 - 160,254,941 (-)ENTREZGENE
HuRef1131,603,239 - 131,611,581 (-)ENTREZGENE
CHM1_11161,641,944 - 161,650,286 (-)NCBI
T2T-CHM13v2.01159,413,883 - 159,422,209 (-)NCBI
Sequence:
RefSeq Acc Id: NR_036493
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381160,276,807 - 160,285,133 (-)NCBI
GRCh371160,246,599 - 160,254,941 (-)ENTREZGENE
HuRef1131,603,239 - 131,611,581 (-)ENTREZGENE
CHM1_11161,641,944 - 161,650,286 (-)NCBI
T2T-CHM13v2.01159,413,883 - 159,422,209 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001180573   ⟸   NM_001193644
- Peptide Label: isoform c
- UniProtKB: Q5QNY5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_002848   ⟸   NM_002857
- Peptide Label: isoform a
- UniProtKB: Q5QNY4 (UniProtKB/Swiss-Prot),   G3V3G9 (UniProtKB/Swiss-Prot),   E9PPB4 (UniProtKB/Swiss-Prot),   D3DVE7 (UniProtKB/Swiss-Prot),   Q8NI97 (UniProtKB/Swiss-Prot),   P40855 (UniProtKB/Swiss-Prot),   A0A0S2Z497 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000435896   ⟸   ENST00000462644
Ensembl Acc Id: ENSP00000451235   ⟸   ENST00000556710
Ensembl Acc Id: ENSP00000435915   ⟸   ENST00000532643
Ensembl Acc Id: ENSP00000434567   ⟸   ENST00000495624
Ensembl Acc Id: ENSP00000376054   ⟸   ENST00000392220
Ensembl Acc Id: ENSP00000450870   ⟸   ENST00000485079
Ensembl Acc Id: ENSP00000357051   ⟸   ENST00000368072
Ensembl Acc Id: ENSP00000434633   ⟸   ENST00000472750
Ensembl Acc Id: ENSP00000497162   ⟸   ENST00000647676
Ensembl Acc Id: ENSP00000590412   ⟸   ENST00000920353
Ensembl Acc Id: ENSP00000590411   ⟸   ENST00000920352
Ensembl Acc Id: ENSP00000527305   ⟸   ENST00000857246

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P40855-F1-model_v2 AlphaFold P40855 1-299 view protein structure

Promoters
RGD ID:6786229
Promoter ID:HG_KWN:5754
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000392220,   OTTHUMT00000080644,   OTTHUMT00000080645
Position:
Human AssemblyChrPosition (strand)Source
Build 361158,520,896 - 158,521,462 (-)MPROMDB
RGD ID:6786224
Promoter ID:HG_KWN:5755
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_002857,   OTTHUMT00000080643
Position:
Human AssemblyChrPosition (strand)Source
Build 361158,521,251 - 158,521,751 (-)MPROMDB
RGD ID:6857790
Promoter ID:EPDNEW_H2052
Type:initiation region
Name:PEX19_3
Description:peroxisomal biogenesis factor 19
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2053  EPDNEW_H2054  EPDNEW_H2055  EPDNEW_H2056  EPDNEW_H2057  EPDNEW_H2058  EPDNEW_H2060  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381160,277,448 - 160,277,508EPDNEW
RGD ID:6857776
Promoter ID:EPDNEW_H2053
Type:initiation region
Name:PEX19_7
Description:peroxisomal biogenesis factor 19
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2054  EPDNEW_H2055  EPDNEW_H2056  EPDNEW_H2057  EPDNEW_H2058  EPDNEW_H2052  EPDNEW_H2060  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381160,278,510 - 160,278,570EPDNEW
RGD ID:6857778
Promoter ID:EPDNEW_H2054
Type:initiation region
Name:PEX19_6
Description:peroxisomal biogenesis factor 19
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2053  EPDNEW_H2055  EPDNEW_H2056  EPDNEW_H2057  EPDNEW_H2058  EPDNEW_H2052  EPDNEW_H2060  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381160,278,942 - 160,279,002EPDNEW
RGD ID:6857780
Promoter ID:EPDNEW_H2055
Type:initiation region
Name:PEX19_8
Description:peroxisomal biogenesis factor 19
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2053  EPDNEW_H2054  EPDNEW_H2056  EPDNEW_H2057  EPDNEW_H2058  EPDNEW_H2052  EPDNEW_H2060  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381160,282,156 - 160,282,216EPDNEW
RGD ID:6857782
Promoter ID:EPDNEW_H2056
Type:initiation region
Name:PEX19_5
Description:peroxisomal biogenesis factor 19
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2053  EPDNEW_H2054  EPDNEW_H2055  EPDNEW_H2057  EPDNEW_H2058  EPDNEW_H2052  EPDNEW_H2060  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381160,283,613 - 160,283,673EPDNEW
RGD ID:6857784
Promoter ID:EPDNEW_H2057
Type:initiation region
Name:PEX19_4
Description:peroxisomal biogenesis factor 19
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2053  EPDNEW_H2054  EPDNEW_H2055  EPDNEW_H2056  EPDNEW_H2058  EPDNEW_H2052  EPDNEW_H2060  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381160,284,247 - 160,284,307EPDNEW
RGD ID:6857786
Promoter ID:EPDNEW_H2058
Type:multiple initiation site
Name:PEX19_1
Description:peroxisomal biogenesis factor 19
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2053  EPDNEW_H2054  EPDNEW_H2055  EPDNEW_H2056  EPDNEW_H2057  EPDNEW_H2052  EPDNEW_H2060  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381160,285,133 - 160,285,193EPDNEW
RGD ID:6857892
Promoter ID:EPDNEW_H2060
Type:initiation region
Name:PEX19_2
Description:peroxisomal biogenesis factor 19
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2053  EPDNEW_H2054  EPDNEW_H2055  EPDNEW_H2056  EPDNEW_H2057  EPDNEW_H2058  EPDNEW_H2052  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381160,290,539 - 160,290,599EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9713 AgrOrtholog
COSMIC PEX19 COSMIC
Ensembl Genes ENSG00000162735 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000258465 Ensembl
Ensembl Transcript ENST00000368072 ENTREZGENE
  ENST00000368072.10 UniProtKB/Swiss-Prot
  ENST00000472750 ENTREZGENE
  ENST00000472750.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.120.900 UniProtKB/Swiss-Prot
GTEx ENSG00000162735 GTEx
  ENSG00000258465 GTEx
HGNC ID HGNC:9713 ENTREZGENE
Human Proteome Map PEX19 Human Proteome Map
InterPro Pex19 UniProtKB/Swiss-Prot
  Pex19_C_sf UniProtKB/Swiss-Prot
KEGG Report hsa:5824 UniProtKB/Swiss-Prot
NCBI Gene 5824 ENTREZGENE
OMIM 600279 OMIM
PANTHER PEROXISOMAL BIOGENESIS FACTOR 19 UniProtKB/Swiss-Prot
  PTHR12774 UniProtKB/Swiss-Prot
Pfam Pex19 UniProtKB/Swiss-Prot
PharmGKB PA34058 PharmGKB
UniProt A0A0S2Z497 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3IRZ1_HUMAN UniProtKB/TrEMBL
  B7Z6I5_HUMAN UniProtKB/TrEMBL
  B7Z8B3_HUMAN UniProtKB/TrEMBL
  D3DVE7 ENTREZGENE
  E9PPB4 ENTREZGENE
  E9PS71_HUMAN UniProtKB/TrEMBL
  G3V3G9 ENTREZGENE
  H0YDY4_HUMAN UniProtKB/TrEMBL
  H0YJ60_HUMAN UniProtKB/TrEMBL
  P40855 ENTREZGENE, UniProtKB/Swiss-Prot
  Q5QNY4 ENTREZGENE
  Q5QNY5 ENTREZGENE, UniProtKB/TrEMBL
  Q8NI97 ENTREZGENE
UniProt Secondary D3DVE7 UniProtKB/Swiss-Prot
  E9PPB4 UniProtKB/Swiss-Prot
  G3V3G9 UniProtKB/Swiss-Prot
  Q5QNY4 UniProtKB/Swiss-Prot
  Q8NI97 UniProtKB/Swiss-Prot