ALAD (aminolevulinate dehydratase) - Rat Genome Database

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Gene: ALAD (aminolevulinate dehydratase) Homo sapiens
Analyze
Symbol: ALAD
Name: aminolevulinate dehydratase
RGD ID: 736545
HGNC Page HGNC:395
Description: Enables identical protein binding activity; porphobilinogen synthase activity; and zinc ion binding activity. Involved in heme biosynthetic process; negative regulation of proteasomal protein catabolic process; and protein homooligomerization. Located in extracellular exosome and nucleus. Implicated in porphyria cutanea tarda and sickle cell anemia. Biomarker of liver cirrhosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ALADH; aminolevulinate, delta-, dehydratase; delta-aminolevulinic acid dehydratase; MGC5057; PBGS; porphobilinogen synthase; testicular tissue protein Li 95
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-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
GRCh389113,386,312 - 113,401,284 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9113,386,312 - 113,401,290 (-)EnsemblGRCh38hg38GRCh38
GRCh379116,148,592 - 116,163,564 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369115,188,413 - 115,203,391 (-)NCBINCBI36Build 36hg18NCBI36
Build 349113,228,146 - 113,243,124NCBI
Celera986,796,194 - 86,811,219 (-)NCBICelera
Cytogenetic Map9q32NCBI
HuRef985,755,612 - 85,770,551 (-)NCBIHuRef
CHM1_19116,295,230 - 116,310,254 (-)NCBICHM1_1
T2T-CHM13v2.09125,585,129 - 125,600,114 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(+)-schisandrin B  (ISO)
(R)-lipoic acid  (ISO)
(R,R,R)-alpha-tocopherol  (ISO)
(S)-nicotine  (EXP)
1,2-dimethylhydrazine  (ISO)
1,4-dithiothreitol  (EXP,ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrabromodibenzodioxine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,6-dinitrotoluene  (ISO)
2-methoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
5,5-diethylbarbituric acid  (ISO)
5-aminolevulinic acid  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP)
5-azacytidine  (EXP)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (EXP)
acephate  (EXP)
acetamide  (ISO)
aconitine  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
aluminium trinitrate  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
arsane  (ISO)
arsenic acid  (ISO)
arsenic atom  (ISO)
arsenite ion  (ISO)
arsenite(3-)  (ISO)
arsenous acid  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP)
beta-carotene  (ISO)
bilirubin IXalpha  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bortezomib  (ISO)
bromobenzene  (EXP,ISO)
butanal  (EXP)
cadmium acetate  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
carbon monoxide  (ISO)
carbon nanotube  (ISO)
carmustine  (EXP)
chitosan  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP,ISO)
citronellal  (ISO)
clofibrate  (ISO)
cobalt dichloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
curcumin  (ISO)
cyclophosphamide  (EXP)
cyclosporin A  (EXP,ISO)
diallyl trisulfide  (ISO)
diarsenic trioxide  (ISO)
dibutyl phthalate  (ISO)
diethyldithiocarbamic acid  (ISO)
diethylstilbestrol  (EXP)
dimercaprol  (EXP)
diphenyl diselenide  (ISO)
disodium selenite  (ISO)
disulfiram  (ISO)
dorsomorphin  (EXP)
ebselen  (ISO)
elemental selenium  (ISO)
enflurane  (ISO)
estrone  (EXP)
ethanol  (ISO)
etoposide  (EXP)
fenthion  (ISO)
ferulic acid  (ISO)
fluphenazine  (ISO)
folic acid  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
furan  (ISO)
gallic acid  (ISO)
gamma-Oryzanol (TN)  (ISO)
genistein  (EXP)
gentamycin  (ISO)
glutathione  (ISO)
glycerol  (ISO)
glycidyl methacrylate  (EXP)
hexachlorobenzene  (ISO)
hexestrol  (EXP)
hydrogen cyanide  (ISO)
hydrogen peroxide  (EXP)
inulin  (ISO)
isoflurane  (ISO)
L-1,4-dithiothreitol  (EXP,ISO)
L-selenocysteine  (ISO)
lead diacetate  (ISO)
lead nitrate  (EXP)
lead(0)  (EXP,ISO)
lipoic acid  (ISO)
lipopolysaccharide  (EXP)
lithium carbonate  (ISO)
lycopene  (ISO)
Maleic hydrazide  (EXP)
melphalan  (EXP)
mercury atom  (EXP,ISO)
mercury dichloride  (ISO)
mercury(0)  (EXP,ISO)
mestranol  (EXP)
methamidophos  (EXP)
methidathion  (ISO)
methylseleninic acid  (EXP)
N-acetyl-L-cysteine  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
naphthalenes  (ISO)
nicotine  (EXP)
nitrofen  (ISO)
nitroprusside  (ISO)
ochratoxin A  (ISO)
okadaic acid  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
pentetrazol  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
picrotoxin  (ISO)
pirinixic acid  (ISO)
porphobilinogen  (ISO)
potassium cyanide  (ISO)
progesterone  (EXP)
quinolone  (ISO)
raloxifene  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
S-adenosyl-L-methioninate  (ISO)
S-adenosyl-L-methionine  (ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
SB 431542  (EXP)
selenium atom  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
Soman  (ISO)
streptozocin  (ISO)
styrene  (EXP)
succimer  (ISO)
sucrose  (ISO)
tamoxifen  (ISO)
taurine  (ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (EXP,ISO)
trichloroethene  (EXP,ISO)
trichostatin A  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
ubiquinones  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vitamin E  (ISO)
zearalenone  (ISO)
zinc acetate  (ISO)
zinc atom  (EXP,ISO)
zinc dichloride  (EXP,ISO)
zinc protoporphyrin  (EXP)
zinc sulfate  (ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
cellular response to interleukin-4  (IEA)
cellular response to lead ion  (IEA,ISO)
heme A biosynthetic process  (IEA)
heme B biosynthetic process  (IDA,IEA)
heme biosynthetic process  (IBA,IDA,IEA,ISO,TAS)
heme O biosynthetic process  (IEA)
negative regulation of proteasomal protein catabolic process  (IDA)
porphyrin-containing compound biosynthetic process  (IEA)
protein homooligomerization  (IPI)
protoporphyrinogen IX biosynthetic process  (IDA,IEA)
response to activity  (IEA,ISO)
response to aluminum ion  (IEA,ISO)
response to amino acid  (IEA,ISO)
response to arsenic-containing substance  (IEA,ISO)
response to cadmium ion  (IEA,ISO)
response to cobalt ion  (IEA,ISO)
response to ethanol  (IEA,ISO)
response to fatty acid  (IEA,ISO)
response to glucocorticoid  (IEA,ISO)
response to herbicide  (IEA,ISO)
response to hormone  (IEA,ISO)
response to hypoxia  (IEA,ISO)
response to ionizing radiation  (IEA,ISO)
response to iron ion  (IEA,ISO)
response to lead ion  (IEA,ISO)
response to lipopolysaccharide  (IEA,ISO)
response to mercury ion  (IEA,ISO)
response to metal ion  (IEA,ISO)
response to methylmercury  (IEA,ISO)
response to nutrient  (IEA,ISO)
response to nutrient levels  (IEA,ISO)
response to oxidative stress  (IEA,ISO)
response to platinum ion  (IEA,ISO)
response to selenium ion  (IEA,ISO)
response to toxic substance  (IEA,ISO)
response to vitamin  (IEA,ISO)
response to vitamin B1  (IEA,ISO)
response to vitamin E  (IEA,ISO)
response to xenobiotic stimulus  (IEA,ISO)
response to zinc ion  (IEA,ISO)
tetrapyrrole biosynthetic process  (IEA)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal colic  (IAGP)
Abdominal distention  (IAGP)
Abdominal pain  (IAGP)
Abnormal circulating enzyme concentration or activity  (IAGP)
Abnormal circulating porphyrin concentration  (IAGP)
Abnormal erythrocyte enzyme concentration or activity  (IAGP)
Abnormal fear-induced behavior  (IAGP)
Abnormal skin morphology  (IAGP)
Abnormality of the nervous system  (IAGP)
Abnormality of the respiratory system  (IAGP)
Agitation  (IAGP)
Ankle flexion contracture  (IAGP)
Anxiety  (IAGP)
Apathy  (IAGP)
Autism  (IAGP)
Autosomal recessive inheritance  (IAGP)
Confusion  (IAGP)
Congenital onset  (IAGP)
Constipation  (IAGP)
Decreased delta-aminolevulinate dehydratase activity  (IAGP)
Delirium  (IAGP)
Depression  (IAGP)
Diarrhea  (IAGP)
Dysarthria  (IAGP)
Elevated urinary delta-aminolevulinic acid  (IAGP)
Episodic vomiting  (IAGP)
Failure to thrive  (IAGP)
Fluctuations in consciousness  (IAGP)
Functional motor deficit  (IAGP)
Gait disturbance  (IAGP)
Hallucinations  (IAGP)
Hearing impairment  (IAGP)
Hemolytic anemia  (IAGP)
Hyponatremia  (IAGP)
Hypotonia  (IAGP)
Increased erythrocyte protoporphyrin concentration  (IAGP)
Increased fecal coproporphyrin 3  (IAGP)
Increased urinary porphobilinogen  (IAGP)
Intellectual disability, mild  (IAGP)
Limb muscle weakness  (IAGP)
Motor polyneuropathy  (IAGP)
Muscle weakness  (IAGP)
Myeloproliferative disorder  (IAGP)
Nausea  (IAGP)
Paralysis  (IAGP)
Paresthesia  (IAGP)
Peripheral neuropathy  (IAGP)
Polyneuropathy  (IAGP)
Purple urine  (IAGP)
Respiratory insufficiency  (IAGP)
Respiratory paralysis  (IAGP)
Restlessness  (IAGP)
Sensory neuropathy  (IAGP)
Ventilator dependence with inability to wean  (IAGP)
Vomiting  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Biosynthesis of heme in mammals. Ajioka RS, etal., Biochim Biophys Acta. 2006 Jul;1763(7):723-36. Epub 2006 Jun 3.
2. Increased erythrocyte uroporphyrinogen-l-synthetase, delta-aminolevulinic acid dehydratase and protoporphyrin in hemolytic anemias. Anderson KE, etal., Am J Med. 1977 Sep;63(3):359-64.
3. Involvement of striatal lipid peroxidation and inhibition of calcium influx into brain slices in neurobehavioral alterations in a rat model of short-term oral exposure to manganese. Avila DS, etal., Neurotoxicology. 2008 Nov;29(6):1062-8. Epub 2008 Aug 20.
4. Acute diphenyl diselenide treatment reduces hyperglycemia but does not change delta-aminolevulinate dehydratase activity in alloxan-induced diabetes in rats. Barbosa NB, etal., Biol Pharm Bull. 2008 Dec;31(12):2200-4.
5. Synthesis, delivery and regulation of eukaryotic heme and Fe-S cluster cofactors. Barupala DP, etal., Arch Biochem Biophys. 2016 Feb 15;592:60-75. doi: 10.1016/j.abb.2016.01.010. Epub 2016 Jan 16.
6. Hepatic heme synthesis in a new model of experimental hemochromatosis: studies in rats fed finely divided elemental iron. Bonkovsky HL, etal., Hepatology. 1987 Nov-Dec;7(6):1195-203.
7. Diphenyl diselenide protects against glycerol-induced renal damage in rats. Brandao R, etal., J Appl Toxicol. 2009 Oct;29(7):612-8.
8. Effect of vitamin D3 on behavioural and biochemical parameters in diabetes type 1-induced rats. Calgaroto NS, etal., Cell Biochem Funct. 2014 Aug;32(6):502-10. doi: 10.1002/cbf.3044. Epub 2014 Jun 19.
9. Delta aminolevulinate dehydratase (ALA-D) activity in human and experimental diabetes mellitus. Fernández-Cuartero B, etal., Int J Biochem Cell Biol. 1999 Mar-Apr;31(3-4):479-88. doi: 10.1016/s1357-2725(98)00145-9.
10. Delta-aminolevulinate dehydratase activity in red blood cells of rats infected with Trypanosoma evansi. França RT, etal., Parasitology. 2011 Sep;138(10):1272-7. doi: 10.1017/S0031182011000989.
11. Oral supplementation of gossypin during lead exposure protects alteration in heme synthesis pathway and brain oxidative stress in rats. Gautam P and Flora SJ, Nutrition. 2010 May;26(5):563-70. Epub 2009 Jul 31.
12. GenMAPP: Gene Map Annotator and Pathway Profiler GenMAPP
13. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
14. Experimental hypothyroidism inhibits delta-aminolevulinate dehydratase activity in neonatal rat blood and liver. Gravina FS, etal., Exp Biol Med (Maywood). 2007 Sep;232(8):1021-6.
15. Message amplification phenotyping of an inherited delta-aminolevulinate dehydratase deficiency in a family with acute hepatic porphyria. Ishida N, etal., Biochem Biophys Res Commun. 1990 Oct 15;172(1):237-42.
16. Effect of oral administration of diphenyl diselenide on antioxidant status, and activity of delta aminolevulinic acid dehydratase and isoforms of lactate dehydrogenase, in streptozotocin-induced diabetic rats. Kade IJ, etal., Cell Biol Toxicol. 2009 Aug;25(4):415-24. doi: 10.1007/s10565-008-9095-5. Epub 2008 Jul 31.
17. Changes in aminolevulinate synthase and aminolevulinate dehydratase activity in cirrhotic liver. Kodama T, etal., Gastroenterology. 1983 Feb;84(2):236-41.
18. Associations of blood pressure and hypertension with lead dose measures and polymorphisms in the vitamin D receptor and delta-aminolevulinic acid dehydratase genes. Lee BK, etal., Environ Health Perspect. 2001 Apr;109(4):383-9.
19. Delta-aminolevulinate dehydratase activity in mice with hereditary anemia. Margolis FL and Russell ES, Science. 1965 Oct 22;150(3695):496-7.
20. Differential oxidative stress and DNA damage in rat brain regions and blood following chronic arsenic exposure. Mishra D and Flora SJ, Toxicol Ind Health. 2008 May;24(4):247-56.
21. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
22. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
23. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
24. STZ-induced diabetes in mice and heme pathway enzymes. Effect of allylisopropylacetamide and alpha-tocopherol. Polo CF, etal., Chem Biol Interact. 1995 Apr 14;95(3):327-34.
25. Involvement of oxidative stress in seizures induced by diphenyl diselenide in rat pups. Prigol M, etal., Brain Res. 2007 May 25;1147:226-32. Epub 2007 Feb 4.
26. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
27. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
28. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
29. Lipoic acid blocks seizures induced by pilocarpine via increases in delta-aminolevulinic dehydratase and Na+, K+-ATPase activity in rat brain. Santos IM, etal., Pharmacol Biochem Behav. 2010 Mar;95(1):88-91. Epub 2009 Dec 21.
30. Changes in brain biogenic amines and haem biosynthesis and their response to combined administration of succimers and Centella asiatica in lead poisoned rats. Saxena G and Flora SJ, J Pharm Pharmacol. 2006 Apr;58(4):547-59.
31. Effects of resveratrol on biomarkers of oxidative stress and on the activity of delta aminolevulinic acid dehydratase in liver and kidney of streptozotocin-induced diabetic rats. Schmatz R, etal., Biochimie. 2012 Feb;94(2):374-83. doi: 10.1016/j.biochi.2011.08.005. Epub 2011 Aug 16.
32. Study of erythrocyte delta-aminolevulinic acid dehydratase activity in porphyria cutanea tarda. Simon N and Kiss M, Arch Dermatol Res. 1979 Oct;266(2):121-6.
33. [Activity of delta-aminolaevulinic acid (ALAD) in erythrocytes of patients with chronic hepatic porphyria (porphyria cutanea tarda)]. Stankiewicz-Wróblewska J, Pol Arch Med Wewn. 1993 Mar;89(3):212-6.
34. Decrease of hepatic delta-aminolevulinate dehydratase activity in an animal model of fatigue. Tahara T, etal., Biochem Biophys Res Commun. 2006 Dec 28;.
35. Mechanism of hexachlorobenzene-induced porphyria in rats. Effect of phenobarbitone pretreatment. Wainstok de Calmanovici R, etal., Biochem J. 1984 Mar 15;218(3):753-63.
Additional References at PubMed
PMID:1156566   PMID:1569184   PMID:1602151   PMID:1678509   PMID:1716854   PMID:2063868   PMID:3036687   PMID:3092810   PMID:3327436   PMID:3463993   PMID:3758678   PMID:6378062  
PMID:6839527   PMID:7450139   PMID:8175643   PMID:8188255   PMID:10519994   PMID:10706561   PMID:11032836   PMID:11413692   PMID:11427399   PMID:11444968   PMID:11459423   PMID:11591653  
PMID:11800328   PMID:11860952   PMID:11909869   PMID:12469218   PMID:12477932   PMID:12611663   PMID:12665801   PMID:12878157   PMID:12896855   PMID:12972060   PMID:14527840   PMID:14694653  
PMID:15064157   PMID:15164053   PMID:15213514   PMID:15258767   PMID:15381398   PMID:15386154   PMID:15489334   PMID:15587989   PMID:15915653   PMID:15954127   PMID:16140629   PMID:16203232  
PMID:16263504   PMID:16344560   PMID:16377642   PMID:16445899   PMID:16487505   PMID:16497859   PMID:16730797   PMID:16757504   PMID:17164378   PMID:17291479   PMID:17366816   PMID:17383846  
PMID:17649958   PMID:17823382   PMID:17966070   PMID:18271513   PMID:18282196   PMID:18432999   PMID:18569569   PMID:18676680   PMID:18784554   PMID:18795909   PMID:18936436   PMID:19028776  
PMID:19170196   PMID:19327888   PMID:19440429   PMID:19515364   PMID:19548578   PMID:19625176   PMID:19686844   PMID:19692168   PMID:19723536   PMID:19766174   PMID:19789817   PMID:19812033  
PMID:20021040   PMID:20021192   PMID:20069172   PMID:20123609   PMID:20406759   PMID:20510440   PMID:20798009   PMID:21293208   PMID:21327641   PMID:21396434   PMID:21439310   PMID:21630459  
PMID:21762684   PMID:21799727   PMID:21873635   PMID:22101007   PMID:22298357   PMID:22851944   PMID:22863883   PMID:23376485   PMID:23533145   PMID:24156693   PMID:24500903   PMID:24631795  
PMID:24855033   PMID:25460652   PMID:25514583   PMID:25528913   PMID:25820613   PMID:25963508   PMID:26186194   PMID:26261627   PMID:26275098   PMID:26287972   PMID:26344197   PMID:26701682  
PMID:27657831   PMID:28276576   PMID:28319085   PMID:28403546   PMID:28514442   PMID:28960093   PMID:29028685   PMID:29148924   PMID:29175793   PMID:29791485   PMID:30025905   PMID:30557693  
PMID:31041926   PMID:31851550   PMID:31859063   PMID:32513696   PMID:33199206   PMID:33298951   PMID:33961781   PMID:34244947   PMID:34373451   PMID:34444495   PMID:35562734   PMID:35831314  
PMID:35914814   PMID:36215168   PMID:36621546  


Genomics

Comparative Map Data
ALAD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389113,386,312 - 113,401,284 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9113,386,312 - 113,401,290 (-)EnsemblGRCh38hg38GRCh38
GRCh379116,148,592 - 116,163,564 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369115,188,413 - 115,203,391 (-)NCBINCBI36Build 36hg18NCBI36
Build 349113,228,146 - 113,243,124NCBI
Celera986,796,194 - 86,811,219 (-)NCBICelera
Cytogenetic Map9q32NCBI
HuRef985,755,612 - 85,770,551 (-)NCBIHuRef
CHM1_19116,295,230 - 116,310,254 (-)NCBICHM1_1
T2T-CHM13v2.09125,585,129 - 125,600,114 (-)NCBIT2T-CHM13v2.0
Alad
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39462,422,762 - 62,438,300 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl462,427,406 - 62,438,155 (-)EnsemblGRCm39 Ensembl
GRCm38462,505,984 - 62,520,063 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl462,509,169 - 62,519,918 (-)EnsemblGRCm38mm10GRCm38
MGSCv37462,170,204 - 62,181,097 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36461,995,531 - 62,006,424 (-)NCBIMGSCv36mm8
Celera461,179,310 - 61,187,276 (-)NCBICelera
Cytogenetic Map4B3NCBI
cM Map433.17NCBI
Alad
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8580,977,562 - 80,987,901 (-)NCBIGRCr8
mRatBN7.2575,961,993 - 75,972,334 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl575,961,993 - 75,972,474 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx578,361,344 - 78,371,685 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0580,178,441 - 80,188,782 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0580,153,956 - 80,164,297 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0578,368,867 - 78,379,206 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl578,368,867 - 78,379,346 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0582,488,238 - 82,498,577 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4579,505,645 - 79,515,983 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1579,510,757 - 79,521,096 (-)NCBI
Celera574,903,347 - 74,913,685 (-)NCBICelera
Cytogenetic Map5q24NCBI
Alad
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541914,093,010 - 14,104,545 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541914,093,010 - 14,104,376 (+)NCBIChiLan1.0ChiLan1.0
ALAD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21125,972,297 - 25,987,310 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1925,974,656 - 25,991,945 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0984,488,339 - 84,503,360 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19112,859,171 - 112,873,784 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9112,859,171 - 112,873,784 (-)Ensemblpanpan1.1panPan2
ALAD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11167,736,643 - 67,752,399 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1167,741,390 - 67,752,321 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1166,141,416 - 66,157,086 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01168,860,894 - 68,876,553 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1168,861,709 - 68,876,497 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11167,378,968 - 67,394,637 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01167,409,910 - 67,425,556 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01168,146,847 - 68,162,517 (-)NCBIUU_Cfam_GSD_1.0
Alad
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947183,026,318 - 183,040,122 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936559226,424 - 241,684 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936559226,481 - 237,258 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ALAD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1254,011,833 - 254,027,537 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11254,015,426 - 254,027,584 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
ALAD
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11226,173,063 - 26,185,456 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1226,173,096 - 26,189,845 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603516,615,859 - 16,628,288 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Alad
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476021,698,587 - 21,711,822 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476021,698,689 - 21,709,907 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ALAD
185 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000031.6(ALAD):c.397G>A (p.Gly133Arg) single nucleotide variant Porphobilinogen synthase deficiency [RCV000018358]|not provided [RCV001851910] Chr9:113390798 [GRCh38]
Chr9:116153078 [GRCh37]
Chr9:9q32		 pathogenic|likely pathogenic
NM_000031.6(ALAD):c.823G>A (p.Val275Met) single nucleotide variant Porphobilinogen synthase deficiency [RCV000018359]|not provided [RCV001851911] Chr9:113389085 [GRCh38]
Chr9:116151365 [GRCh37]
Chr9:9q32		 pathogenic|uncertain significance
NM_000031.6(ALAD):c.177G>C (p.Lys59Asn) single nucleotide variant ALAD*1/ALAD*2 POLYMORPHISM [RCV000018360]|Porphobilinogen synthase deficiency [RCV000371179]|not provided [RCV001509916]|not specified [RCV002247353] Chr9:113391611 [GRCh38]
Chr9:113391611..113391612 [GRCh38]
Chr9:116153891 [GRCh37]
Chr9:116153891..116153892 [GRCh37]
Chr9:9q32		 pathogenic|benign|likely benign
NM_000031.6(ALAD):c.718C>T (p.Arg240Trp) single nucleotide variant Porphobilinogen synthase deficiency [RCV000018361]|not specified [RCV000604032] Chr9:113389521 [GRCh38]
Chr9:116151801 [GRCh37]
Chr9:9q32		 pathogenic|uncertain significance
NM_000031.6(ALAD):c.820G>A (p.Ala274Thr) single nucleotide variant Porphobilinogen synthase deficiency [RCV000018362] Chr9:113389088 [GRCh38]
Chr9:116151368 [GRCh37]
Chr9:9q32		 pathogenic
NM_000031.6(ALAD):c.36C>G (p.Phe12Leu) single nucleotide variant PORPHYRIA, ACUTE HEPATIC, DIGENIC [RCV000018363]|not provided [RCV000413492] Chr9:113393524 [GRCh38]
Chr9:116155804 [GRCh37]
Chr9:9q32		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000031.6(ALAD):c.165-11C>A single nucleotide variant Porphobilinogen synthase deficiency [RCV000018364] Chr9:113391634 [GRCh38]
Chr9:116153914 [GRCh37]
Chr9:9q32		 pathogenic
NM_000031.6(ALAD):c.165-11C>T single nucleotide variant Porphobilinogen synthase deficiency [RCV000018365] Chr9:113391634 [GRCh38]
Chr9:116153914 [GRCh37]
Chr9:9q32		 pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000050315] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1 copy number loss See cases [RCV000052921] Chr9:99349916..115767475 [GRCh38]
Chr9:102112198..118529754 [GRCh37]
Chr9:101152019..117569575 [NCBI36]
Chr9:9q22.33-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3 copy number gain See cases [RCV000053752] Chr9:88522292..113687796 [GRCh38]
Chr9:91137207..116450076 [GRCh37]
Chr9:90327027..115489897 [NCBI36]
Chr9:9q22.1-32		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q32(chr9:113058848-113725516)x3 copy number gain See cases [RCV000135719] Chr9:113058848..113725516 [GRCh38]
Chr9:115821128..116487796 [GRCh37]
Chr9:114860949..115527617 [NCBI36]
Chr9:9q32		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1 copy number loss See cases [RCV000140794] Chr9:107530314..117965944 [GRCh38]
Chr9:110292595..120728222 [GRCh37]
Chr9:109332416..119768043 [NCBI36]
Chr9:9q31.2-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000148264] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000031.6(ALAD):c.-76+15G>T single nucleotide variant Porphobilinogen synthase deficiency [RCV000267514] Chr9:113401197 [GRCh38]
Chr9:116163477 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.715-14C>A single nucleotide variant Porphobilinogen synthase deficiency [RCV000321217]|not provided [RCV001521736] Chr9:113389538 [GRCh38]
Chr9:116151818 [GRCh37]
Chr9:9q32		 benign|uncertain significance
NM_000031.5(ALAD):c.-197G>T single nucleotide variant Porphobilinogen synthase deficiency [RCV000344244] Chr9:113401333 [GRCh38]
Chr9:116163613 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.724G>A (p.Val242Ile) single nucleotide variant Porphobilinogen synthase deficiency [RCV000284880]|not provided [RCV000818462] Chr9:113389515 [GRCh38]
Chr9:116151795 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.521G>A (p.Arg174His) single nucleotide variant Porphobilinogen synthase deficiency [RCV000285769] Chr9:113390454 [GRCh38]
Chr9:116152734 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.1A>G (p.Met1Val) single nucleotide variant Porphobilinogen synthase deficiency [RCV000302793] Chr9:113393559 [GRCh38]
Chr9:116155839 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.-131C>T single nucleotide variant Porphobilinogen synthase deficiency [RCV000322822] Chr9:113401267 [GRCh38]
Chr9:116163547 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_000031.6(ALAD):c.940A>G (p.Ile314Val) single nucleotide variant Porphobilinogen synthase deficiency [RCV000268873]|not provided [RCV002523715] Chr9:113388353 [GRCh38]
Chr9:116150633 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.*813A>G single nucleotide variant Porphobilinogen synthase deficiency [RCV000286592] Chr9:113387487 [GRCh38]
Chr9:116149767 [GRCh37]
Chr9:9q32		 benign|uncertain significance
NM_000031.5(ALAD):c.-156C>A single nucleotide variant Porphobilinogen synthase deficiency [RCV000348618] Chr9:113401292 [GRCh38]
Chr9:116163572 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.5(ALAD):c.-162dup duplication Porphobilinogen synthase deficiency [RCV000372836] Chr9:113401290..113401291 [GRCh38]
Chr9:116163570..116163571 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.5(ALAD):c.-155C>G single nucleotide variant Porphobilinogen synthase deficiency [RCV000374074] Chr9:113401291 [GRCh38]
Chr9:116163571 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.15C>T (p.Ser5=) single nucleotide variant Porphobilinogen synthase deficiency [RCV000271103]|not provided [RCV000888801] Chr9:113393545 [GRCh38]
Chr9:116155825 [GRCh37]
Chr9:9q32		 benign|likely benign|uncertain significance
NM_000031.6(ALAD):c.72C>T (p.Thr24=) single nucleotide variant Porphobilinogen synthase deficiency [RCV000308378]|not provided [RCV000951282] Chr9:113393488 [GRCh38]
Chr9:116155768 [GRCh37]
Chr9:9q32		 benign|uncertain significance
NM_000031.6(ALAD):c.*1811_*1812del deletion Porphobilinogen synthase deficiency [RCV000330055] Chr9:113386488..113386489 [GRCh38]
Chr9:116148768..116148769 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.678G>T (p.Leu226=) single nucleotide variant Porphobilinogen synthase deficiency [RCV000380543]|not provided [RCV000895725] Chr9:113389635 [GRCh38]
Chr9:116151915 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_000031.6(ALAD):c.*127C>T single nucleotide variant Porphobilinogen synthase deficiency [RCV000332201]|not provided [RCV004696102] Chr9:113388173 [GRCh38]
Chr9:116150453 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.264C>T (p.Asp88=) single nucleotide variant ALAD-related disorder [RCV003932509]|Porphobilinogen synthase deficiency [RCV000312002]|not provided [RCV002523717] Chr9:113390931 [GRCh38]
Chr9:116153211 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_000031.6(ALAD):c.*422G>T single nucleotide variant Porphobilinogen synthase deficiency [RCV000312110] Chr9:113387878 [GRCh38]
Chr9:116150158 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.-4C>T single nucleotide variant Porphobilinogen synthase deficiency [RCV000357577] Chr9:113393563 [GRCh38]
Chr9:116155843 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_000031.6(ALAD):c.897C>T (p.Ala299=) single nucleotide variant Porphobilinogen synthase deficiency [RCV000383862] Chr9:113389011 [GRCh38]
Chr9:116151291 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.*1675C>T single nucleotide variant Porphobilinogen synthase deficiency [RCV000295110] Chr9:113386625 [GRCh38]
Chr9:116148905 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.501G>A (p.Pro167=) single nucleotide variant Porphobilinogen synthase deficiency [RCV000336071]|not provided [RCV002523716] Chr9:113390474 [GRCh38]
Chr9:116152754 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_000031.6(ALAD):c.*1511T>C single nucleotide variant Porphobilinogen synthase deficiency [RCV000384701] Chr9:113386789 [GRCh38]
Chr9:116149069 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.414C>T (p.Asn138=) single nucleotide variant Porphobilinogen synthase deficiency [RCV000337743]|not provided [RCV001515734] Chr9:113390660 [GRCh38]
Chr9:116152940 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_000031.5(ALAD):c.-177C>T single nucleotide variant Porphobilinogen synthase deficiency [RCV000296347] Chr9:113401313 [GRCh38]
Chr9:116163593 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.16G>A (p.Val6Ile) single nucleotide variant Porphobilinogen synthase deficiency [RCV000363089]|not provided [RCV003430956] Chr9:113393544 [GRCh38]
Chr9:116155824 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_000031.6(ALAD):c.*471C>T single nucleotide variant Porphobilinogen synthase deficiency [RCV000297266]|not provided [RCV004712683] Chr9:113387829 [GRCh38]
Chr9:116150109 [GRCh37]
Chr9:9q32		 benign
NM_000031.6(ALAD):c.*1464A>G single nucleotide variant Porphobilinogen synthase deficiency [RCV000340510] Chr9:113386836 [GRCh38]
Chr9:116149116 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.*106C>G single nucleotide variant Porphobilinogen synthase deficiency [RCV000363405] Chr9:113388194 [GRCh38]
Chr9:116150474 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.168T>C (p.Tyr56=) single nucleotide variant Porphobilinogen synthase deficiency [RCV000390608]|not provided [RCV001517936]|not specified [RCV001700362] Chr9:113391620 [GRCh38]
Chr9:116153900 [GRCh37]
Chr9:9q32		 benign
NM_000031.6(ALAD):c.*871C>A single nucleotide variant Porphobilinogen synthase deficiency [RCV000390965] Chr9:113387429 [GRCh38]
Chr9:116149709 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_000031.6(ALAD):c.439C>T (p.Arg147Cys) single nucleotide variant Porphobilinogen synthase deficiency [RCV000282697] Chr9:113390635 [GRCh38]
Chr9:116152915 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.*1950G>A single nucleotide variant Porphobilinogen synthase deficiency [RCV000319386]|not provided [RCV004712681] Chr9:113386350 [GRCh38]
Chr9:116148630 [GRCh37]
Chr9:9q32		 benign
NM_000031.6(ALAD):c.*400G>A single nucleotide variant Porphobilinogen synthase deficiency [RCV000366744] Chr9:113387900 [GRCh38]
Chr9:116150180 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.*613G>A single nucleotide variant Porphobilinogen synthase deficiency [RCV000392520]|not provided [RCV004712682] Chr9:113387687 [GRCh38]
Chr9:116149967 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_000031.6(ALAD):c.463T>C (p.Leu155=) single nucleotide variant Porphobilinogen synthase deficiency [RCV000393650]|not provided [RCV001515733] Chr9:113390611 [GRCh38]
Chr9:116152891 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_000031.6(ALAD):c.397+12C>T single nucleotide variant Porphobilinogen synthase deficiency [RCV000393661]|not provided [RCV001518606] Chr9:113390786 [GRCh38]
Chr9:116153066 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_000031.5(ALAD):c.-162_-161dup duplication Porphobilinogen synthase deficiency [RCV000259453] Chr9:113401290..113401291 [GRCh38]
Chr9:116163570..116163571 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.5(ALAD):c.-157_-156insCG insertion Porphobilinogen synthase deficiency [RCV000293670] Chr9:113401291..113401292 [GRCh38]
Chr9:116163571..116163572 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.5(ALAD):c.-162_-159dup duplication Porphobilinogen synthase deficiency [RCV000319280]|not provided [RCV004696103] Chr9:113401290..113401291 [GRCh38]
Chr9:116163570..116163571 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.*676dup duplication Porphobilinogen synthase deficiency [RCV000341552] Chr9:113387623..113387624 [GRCh38]
Chr9:116149903..116149904 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.*1864A>C single nucleotide variant Porphobilinogen synthase deficiency [RCV000274883] Chr9:113386436 [GRCh38]
Chr9:116148716 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.*381G>A single nucleotide variant Porphobilinogen synthase deficiency [RCV000277091] Chr9:113387919 [GRCh38]
Chr9:116150199 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.931+15G>A single nucleotide variant Porphobilinogen synthase deficiency [RCV000329363]|not provided [RCV002058766] Chr9:113388962 [GRCh38]
Chr9:116151242 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_000031.6(ALAD):c.*438G>C single nucleotide variant Porphobilinogen synthase deficiency [RCV000405326] Chr9:113387862 [GRCh38]
Chr9:116150142 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.5(ALAD):c.-160_-159insA insertion Porphobilinogen synthase deficiency [RCV000389221] Chr9:113401295..113401296 [GRCh38]
Chr9:116163575..116163576 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.*1741G>A single nucleotide variant Porphobilinogen synthase deficiency [RCV000389285] Chr9:113386559 [GRCh38]
Chr9:116148839 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.*1915del deletion Porphobilinogen synthase deficiency [RCV000355631] Chr9:113386385 [GRCh38]
Chr9:116148665 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.*459_*463del deletion Porphobilinogen synthase deficiency [RCV000356523] Chr9:113387837..113387841 [GRCh38]
Chr9:116150117..116150121 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.*1631G>A single nucleotide variant Porphobilinogen synthase deficiency [RCV000326668] Chr9:113386669 [GRCh38]
Chr9:116148949 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.*1470G>A single nucleotide variant Porphobilinogen synthase deficiency [RCV000290351] Chr9:113386830 [GRCh38]
Chr9:116149110 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9q31.3-33.1(chr9:111348809-118687200)x1 copy number loss See cases [RCV000449308] Chr9:111348809..118687200 [GRCh37]
Chr9:9q31.3-33.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000031.6(ALAD):c.484T>A (p.Cys162Ser) single nucleotide variant not provided [RCV000441405] Chr9:113390491 [GRCh38]
Chr9:116152771 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.269G>A (p.Arg90Gln) single nucleotide variant Inborn genetic diseases [RCV003352859]|not provided [RCV000430686] Chr9:113390926 [GRCh38]
Chr9:116153206 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)x1 copy number loss See cases [RCV000447763] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.3-33.2(chr9:114299780-123267736)x1 copy number loss See cases [RCV000511049] Chr9:114299780..123267736 [GRCh37]
Chr9:9q31.3-33.2		 pathogenic
NM_000031.6(ALAD):c.29G>C (p.Gly10Ala) single nucleotide variant Porphobilinogen synthase deficiency [RCV000625581]|not provided [RCV001066409] Chr9:113393531 [GRCh38]
Chr9:116155811 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000031.6(ALAD):c.784C>T (p.Arg262Trp) single nucleotide variant Porphobilinogen synthase deficiency [RCV001167640]|not provided [RCV000658052] Chr9:113389455 [GRCh38]
Chr9:116151735 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.520C>T (p.Arg174Cys) single nucleotide variant Porphobilinogen synthase deficiency [RCV000663361] Chr9:113390455 [GRCh38]
Chr9:116152735 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.931+66T>C single nucleotide variant not provided [RCV001537525] Chr9:113388911 [GRCh38]
Chr9:116151191 [GRCh37]
Chr9:9q32		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.3-33.3(chr9:113083182-126779494)x1 copy number loss not provided [RCV000748606] Chr9:113083182..126779494 [GRCh37]
Chr9:9q31.3-33.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000031.6(ALAD):c.-75-314del deletion not provided [RCV001645722] Chr9:113393948 [GRCh38]
Chr9:116156228 [GRCh37]
Chr9:9q32		 benign
NM_000031.6(ALAD):c.*234G>A single nucleotide variant Porphobilinogen synthase deficiency [RCV001167058] Chr9:113388066 [GRCh38]
Chr9:116150346 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.141C>T (p.Ile47=) single nucleotide variant not provided [RCV000924732] Chr9:113392142 [GRCh38]
Chr9:116154422 [GRCh37]
Chr9:9q32		 benign
NM_000031.6(ALAD):c.468G>A (p.Ala156=) single nucleotide variant Porphobilinogen synthase deficiency [RCV001169533]|not provided [RCV000900521] Chr9:113390606 [GRCh38]
Chr9:116152886 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_000031.6(ALAD):c.576G>A (p.Ser192=) single nucleotide variant not provided [RCV000927585] Chr9:113389823 [GRCh38]
Chr9:116152103 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.165-10A>G single nucleotide variant not provided [RCV000973031] Chr9:113391633 [GRCh38]
Chr9:116153913 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.853C>T (p.Leu285=) single nucleotide variant not provided [RCV000882713] Chr9:113389055 [GRCh38]
Chr9:116151335 [GRCh37]
Chr9:9q32		 benign
NM_000031.6(ALAD):c.459G>A (p.Val153=) single nucleotide variant not provided [RCV000899356] Chr9:113390615 [GRCh38]
Chr9:116152895 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.276C>T (p.Ser92=) single nucleotide variant not provided [RCV000921141] Chr9:113390919 [GRCh38]
Chr9:116153199 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.963G>A (p.Pro321=) single nucleotide variant not provided [RCV000918007] Chr9:113388330 [GRCh38]
Chr9:116150610 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.570+7G>T single nucleotide variant not provided [RCV000899692] Chr9:113390398 [GRCh38]
Chr9:116152678 [GRCh37]
Chr9:9q32		 benign
NM_000031.6(ALAD):c.855G>A (p.Leu285=) single nucleotide variant not provided [RCV000914052] Chr9:113389053 [GRCh38]
Chr9:116151333 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.715G>A (p.Asp239Asn) single nucleotide variant Porphobilinogen synthase deficiency [RCV001169530]|not provided [RCV000801251] Chr9:113389524 [GRCh38]
Chr9:116151804 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.360T>C (p.Asp120=) single nucleotide variant not provided [RCV000914548] Chr9:113390835 [GRCh38]
Chr9:116153115 [GRCh37]
Chr9:9q32		 benign|likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000031.6(ALAD):c.910A>G (p.Met304Val) single nucleotide variant Porphobilinogen synthase deficiency [RCV001167637] Chr9:113388998 [GRCh38]
Chr9:116151278 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.*1280G>A single nucleotide variant Porphobilinogen synthase deficiency [RCV001169479] Chr9:113387020 [GRCh38]
Chr9:116149300 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.474C>G (p.Ala158=) single nucleotide variant Porphobilinogen synthase deficiency [RCV001169532] Chr9:113390600 [GRCh38]
Chr9:116152880 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.277G>A (p.Ala93Thr) single nucleotide variant Porphobilinogen synthase deficiency [RCV001165524]|not provided [RCV002558608] Chr9:113390918 [GRCh38]
Chr9:116153198 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.801+14C>T single nucleotide variant Porphobilinogen synthase deficiency [RCV001167639]|not provided [RCV003727932] Chr9:113389424 [GRCh38]
Chr9:116151704 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_000031.6(ALAD):c.425G>A (p.Arg142Gln) single nucleotide variant Inborn genetic diseases [RCV004028250]|not provided [RCV000806562] Chr9:113390649 [GRCh38]
Chr9:116152929 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_000031.6(ALAD):c.792A>G (p.Val264=) single nucleotide variant not provided [RCV000940892] Chr9:113389447 [GRCh38]
Chr9:116151727 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.870G>A (p.Gln290=) single nucleotide variant Porphobilinogen synthase deficiency [RCV001167638] Chr9:113389038 [GRCh38]
Chr9:116151318 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.770A>G (p.Tyr257Cys) single nucleotide variant Porphobilinogen synthase deficiency [RCV001167641] Chr9:113389469 [GRCh38]
Chr9:116151749 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9q31.3-32(chr9:113982711-117443628)x1 copy number loss not provided [RCV000847543] Chr9:113982711..117443628 [GRCh37]
Chr9:9q31.3-32		 uncertain significance
NM_000031.6(ALAD):c.692G>A (p.Arg231Gln) single nucleotide variant Porphobilinogen synthase deficiency [RCV001169531] Chr9:113389621 [GRCh38]
Chr9:116151901 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.*317T>G single nucleotide variant Porphobilinogen synthase deficiency [RCV001167057] Chr9:113387983 [GRCh38]
Chr9:116150263 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.*1322G>A single nucleotide variant Porphobilinogen synthase deficiency [RCV001168713]|not provided [RCV003222242] Chr9:113386978 [GRCh38]
Chr9:116149258 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_000031.6(ALAD):c.398-13A>G single nucleotide variant Porphobilinogen synthase deficiency [RCV001165523]|not provided [RCV001510242] Chr9:113390689 [GRCh38]
Chr9:116152969 [GRCh37]
Chr9:9q32		 benign
GRCh37/hg19 9q32(chr9:116034704-116199658)x3 copy number gain not provided [RCV000847316] Chr9:116034704..116199658 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_000031.6(ALAD):c.813C>G (p.Leu271=) single nucleotide variant not provided [RCV000936873] Chr9:113389095 [GRCh38]
Chr9:116151375 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.911T>C (p.Met304Thr) single nucleotide variant Inborn genetic diseases [RCV003353216]|not provided [RCV001222164] Chr9:113388997 [GRCh38]
Chr9:116151277 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.241G>A (p.Val81Ile) single nucleotide variant Porphobilinogen synthase deficiency [RCV001165525] Chr9:113391547 [GRCh38]
Chr9:116153827 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.*1832T>C single nucleotide variant Porphobilinogen synthase deficiency [RCV001167000] Chr9:113386468 [GRCh38]
Chr9:116148748 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.*1803A>G single nucleotide variant Porphobilinogen synthase deficiency [RCV001167002] Chr9:113386497 [GRCh38]
Chr9:116148777 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.*1280G>C single nucleotide variant Porphobilinogen synthase deficiency [RCV001169478] Chr9:113387020 [GRCh38]
Chr9:116149300 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.262-176G>A single nucleotide variant not provided [RCV001638596] Chr9:113391109 [GRCh38]
Chr9:116153389 [GRCh37]
Chr9:9q32		 benign
NM_000031.6(ALAD):c.932-265T>C single nucleotide variant not provided [RCV001673996] Chr9:113388626 [GRCh38]
Chr9:116150906 [GRCh37]
Chr9:9q32		 benign
NM_000031.6(ALAD):c.571-220dup duplication not provided [RCV001671293] Chr9:113390037..113390038 [GRCh38]
Chr9:116152317..116152318 [GRCh37]
Chr9:9q32		 benign
NM_000031.6(ALAD):c.398-34G>C single nucleotide variant not provided [RCV001534512] Chr9:113390710 [GRCh38]
Chr9:116152990 [GRCh37]
Chr9:9q32		 benign
NM_000031.6(ALAD):c.802-141C>T single nucleotide variant not provided [RCV001677410] Chr9:113389247 [GRCh38]
Chr9:116151527 [GRCh37]
Chr9:9q32		 benign
NM_000031.6(ALAD):c.861T>C (p.His287=) single nucleotide variant not provided [RCV000895063] Chr9:113389047 [GRCh38]
Chr9:116151327 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.*1804T>C single nucleotide variant Porphobilinogen synthase deficiency [RCV001167001] Chr9:113386496 [GRCh38]
Chr9:116148776 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.*12C>T single nucleotide variant Porphobilinogen synthase deficiency [RCV001167059] Chr9:113388288 [GRCh38]
Chr9:116150568 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.-70G>T single nucleotide variant Porphobilinogen synthase deficiency [RCV001167125] Chr9:113393629 [GRCh38]
Chr9:116155909 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.113+40TTGGGG[4] microsatellite not provided [RCV001685266] Chr9:113393389..113393390 [GRCh38]
Chr9:116155669..116155670 [GRCh37]
Chr9:9q32		 benign
NM_000031.6(ALAD):c.570+244T>C single nucleotide variant not provided [RCV001649339] Chr9:113390161 [GRCh38]
Chr9:116152441 [GRCh37]
Chr9:9q32		 benign
NM_000031.6(ALAD):c.113+299C>T single nucleotide variant not provided [RCV001635845] Chr9:113393148 [GRCh38]
Chr9:116155428 [GRCh37]
Chr9:9q32		 benign
NM_000031.6(ALAD):c.*920C>T single nucleotide variant Porphobilinogen synthase deficiency [RCV001169481] Chr9:113387380 [GRCh38]
Chr9:116149660 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.*760T>C single nucleotide variant Porphobilinogen synthase deficiency [RCV001169483] Chr9:113387540 [GRCh38]
Chr9:116149820 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.113+339C>T single nucleotide variant not provided [RCV001667017] Chr9:113393108 [GRCh38]
Chr9:116155388 [GRCh37]
Chr9:9q32		 benign
NM_000031.6(ALAD):c.165-196G>A single nucleotide variant not provided [RCV001643873] Chr9:113391819 [GRCh38]
Chr9:116154099 [GRCh37]
Chr9:9q32		 benign
NM_000031.6(ALAD):c.262-37T>C single nucleotide variant not provided [RCV001611483] Chr9:113390970 [GRCh38]
Chr9:116153250 [GRCh37]
Chr9:9q32		 benign
NM_000031.6(ALAD):c.262-139A>G single nucleotide variant not provided [RCV001643788] Chr9:113391072 [GRCh38]
Chr9:116153352 [GRCh37]
Chr9:9q32		 benign
NM_000031.6(ALAD):c.*1737T>C single nucleotide variant Porphobilinogen synthase deficiency [RCV001167004]|not provided [RCV004712982] Chr9:113386563 [GRCh38]
Chr9:116148843 [GRCh37]
Chr9:9q32		 benign
NM_000031.6(ALAD):c.*363G>A single nucleotide variant Porphobilinogen synthase deficiency [RCV001167056]|not provided [RCV004695094] Chr9:113387937 [GRCh38]
Chr9:116150217 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.*1473G>A single nucleotide variant Porphobilinogen synthase deficiency [RCV001168711] Chr9:113386827 [GRCh38]
Chr9:116149107 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.*1671A>T single nucleotide variant Porphobilinogen synthase deficiency [RCV001168710] Chr9:113386629 [GRCh38]
Chr9:116148909 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.*1381G>A single nucleotide variant Porphobilinogen synthase deficiency [RCV001168712] Chr9:113386919 [GRCh38]
Chr9:116149199 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.*1007G>A single nucleotide variant Porphobilinogen synthase deficiency [RCV001169480] Chr9:113387293 [GRCh38]
Chr9:116149573 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.*771C>T single nucleotide variant Porphobilinogen synthase deficiency [RCV001169482] Chr9:113387529 [GRCh38]
Chr9:116149809 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.*643G>T single nucleotide variant Porphobilinogen synthase deficiency [RCV001165463] Chr9:113387657 [GRCh38]
Chr9:116149937 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.-75-11A>G single nucleotide variant Porphobilinogen synthase deficiency [RCV001167700] Chr9:113393645 [GRCh38]
Chr9:116155925 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.*498C>T single nucleotide variant Porphobilinogen synthase deficiency [RCV001165464] Chr9:113387802 [GRCh38]
Chr9:116150082 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.*1787A>C single nucleotide variant Porphobilinogen synthase deficiency [RCV001167003] Chr9:113386513 [GRCh38]
Chr9:116148793 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.50G>A (p.Arg17Gln) single nucleotide variant Inborn genetic diseases [RCV002547501]|not provided [RCV001350245] Chr9:113393510 [GRCh38]
Chr9:116155790 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.24C>T (p.His8=) single nucleotide variant ALAD-related disorder [RCV003920931]|not provided [RCV001433201] Chr9:113393536 [GRCh38]
Chr9:116155816 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.179G>A (p.Arg60Gln) single nucleotide variant not provided [RCV001373930] Chr9:113391609 [GRCh38]
Chr9:116153889 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.874G>A (p.Gly292Arg) single nucleotide variant Inborn genetic diseases [RCV002546758]|Porphobilinogen synthase deficiency [RCV001336064]|not provided [RCV002546759] Chr9:113389034 [GRCh38]
Chr9:116151314 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.113+1G>A single nucleotide variant Porphobilinogen synthase deficiency [RCV001336063] Chr9:113393446 [GRCh38]
Chr9:116155726 [GRCh37]
Chr9:9q32		 pathogenic
NM_000031.6(ALAD):c.51G>C (p.Arg17=) single nucleotide variant not provided [RCV001456994] Chr9:113393509 [GRCh38]
Chr9:116155789 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.444G>A (p.Gln148=) single nucleotide variant not provided [RCV001471627] Chr9:113390630 [GRCh38]
Chr9:116152910 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.802-115A>G single nucleotide variant not provided [RCV001617627] Chr9:113389221 [GRCh38]
Chr9:116151501 [GRCh37]
Chr9:9q32		 benign
NM_000031.6(ALAD):c.992G>A (p.Ter331=) single nucleotide variant not provided [RCV001393407] Chr9:113388301 [GRCh38]
Chr9:116150581 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.481+1G>T single nucleotide variant not provided [RCV001379436] Chr9:113390592 [GRCh38]
Chr9:116152872 [GRCh37]
Chr9:9q32		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q32(chr9:115883313-116179965) copy number gain not specified [RCV002052830] Chr9:115883313..116179965 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089) copy number loss not specified [RCV002052825] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3		 pathogenic
NM_000031.6(ALAD):c.661C>T (p.Arg221Cys) single nucleotide variant not provided [RCV002021205] Chr9:113389652 [GRCh38]
Chr9:116151932 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
GRCh37/hg19 9q31.2-32(chr9:109265628-117650999) copy number loss not specified [RCV002052828] Chr9:109265628..117650999 [GRCh37]
Chr9:9q31.2-32		 likely pathogenic
NM_000031.6(ALAD):c.780C>A (p.Ile260=) single nucleotide variant not provided [RCV002020747] Chr9:113389459 [GRCh38]
Chr9:116151739 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_000031.6(ALAD):c.287C>T (p.Ser96Phe) single nucleotide variant not provided [RCV001930319] Chr9:113390908 [GRCh38]
Chr9:116153188 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.27C>T (p.Ser9=) single nucleotide variant not provided [RCV002038346] Chr9:113393533 [GRCh38]
Chr9:116155813 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.28G>A (p.Gly10Ser) single nucleotide variant not provided [RCV001943575] Chr9:113393532 [GRCh38]
Chr9:116155812 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.520C>G (p.Arg174Gly) single nucleotide variant not provided [RCV001997054] Chr9:113390455 [GRCh38]
Chr9:116152735 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.135G>C (p.Gln45His) single nucleotide variant Inborn genetic diseases [RCV004631787]|not provided [RCV001897798] Chr9:113392148 [GRCh38]
Chr9:116154428 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.407G>A (p.Ser136Asn) single nucleotide variant not provided [RCV001878888] Chr9:113390667 [GRCh38]
Chr9:116152947 [GRCh37]
Chr9:9q32		 uncertain significance
NC_000009.11:g.(?_116041205)_(116155839_?)dup duplication not provided [RCV001920545] Chr9:116041205..116155839 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.80A>G (p.Asn27Ser) single nucleotide variant not provided [RCV002014529] Chr9:113393480 [GRCh38]
Chr9:116155760 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.797A>G (p.Asp266Gly) single nucleotide variant not provided [RCV001998389] Chr9:113389442 [GRCh38]
Chr9:116151722 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.873C>T (p.Ala291=) single nucleotide variant not provided [RCV002085573] Chr9:113389035 [GRCh38]
Chr9:116151315 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.113+19G>A single nucleotide variant not provided [RCV002148354] Chr9:113393428 [GRCh38]
Chr9:116155708 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.626+15G>A single nucleotide variant not provided [RCV002127551] Chr9:113389758 [GRCh38]
Chr9:116152038 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.312A>C (p.Ala104=) single nucleotide variant not provided [RCV002086155] Chr9:113390883 [GRCh38]
Chr9:116153163 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.801+15G>A single nucleotide variant not provided [RCV002092358] Chr9:113389423 [GRCh38]
Chr9:116151703 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.113+15A>G single nucleotide variant not provided [RCV002077108] Chr9:113393432 [GRCh38]
Chr9:116155712 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.367C>T (p.Leu123=) single nucleotide variant not provided [RCV002089116] Chr9:113390828 [GRCh38]
Chr9:116153108 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.114-11C>G single nucleotide variant not provided [RCV002116245] Chr9:113392180 [GRCh38]
Chr9:116154460 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.387T>C (p.His129=) single nucleotide variant not provided [RCV002148011] Chr9:113390808 [GRCh38]
Chr9:116153088 [GRCh37]
Chr9:9q32		 likely benign
NC_000009.11:g.(?_116037910)_(116993432_?)dup duplication not provided [RCV003123074] Chr9:116037910..116993432 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.446G>A (p.Arg149Gln) single nucleotide variant Porphobilinogen synthase deficiency [RCV003129570] Chr9:113390628 [GRCh38]
Chr9:116152908 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
NM_000031.6(ALAD):c.988G>A (p.Glu330Lys) single nucleotide variant Inborn genetic diseases [RCV003299474] Chr9:113388305 [GRCh38]
Chr9:116150585 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.317A>G (p.His106Arg) single nucleotide variant Inborn genetic diseases [RCV003264500] Chr9:113390878 [GRCh38]
Chr9:116153158 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.819C>T (p.Leu273=) single nucleotide variant not provided [RCV002616812] Chr9:113389089 [GRCh38]
Chr9:116151369 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.508ATG[1] (p.Met171del) microsatellite not provided [RCV002996963] Chr9:113390462..113390464 [GRCh38]
Chr9:116152742..116152744 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.93C>G (p.Leu31=) single nucleotide variant not provided [RCV003017237] Chr9:113393467 [GRCh38]
Chr9:116155747 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.36C>T (p.Phe12=) single nucleotide variant not provided [RCV002903407] Chr9:113393524 [GRCh38]
Chr9:116155804 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.661C>A (p.Arg221Ser) single nucleotide variant Inborn genetic diseases [RCV002950084] Chr9:113389652 [GRCh38]
Chr9:116151932 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.126T>A (p.Asp42Glu) single nucleotide variant not provided [RCV002913374] Chr9:113392157 [GRCh38]
Chr9:116154437 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.571-20C>G single nucleotide variant not provided [RCV003053360] Chr9:113389848 [GRCh38]
Chr9:116152128 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.221G>A (p.Arg74His) single nucleotide variant Inborn genetic diseases [RCV002737324] Chr9:113391567 [GRCh38]
Chr9:116153847 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.644G>A (p.Ser215Asn) single nucleotide variant Inborn genetic diseases [RCV002873497] Chr9:113389669 [GRCh38]
Chr9:116151949 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.771C>T (p.Tyr257=) single nucleotide variant not provided [RCV003083045] Chr9:113389468 [GRCh38]
Chr9:116151748 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.240C>T (p.Gly80=) single nucleotide variant not provided [RCV002626909] Chr9:113391548 [GRCh38]
Chr9:116153828 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.113C>A (p.Thr38Lys) single nucleotide variant not provided [RCV002833735] Chr9:113393447 [GRCh38]
Chr9:116155727 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.482-11C>T single nucleotide variant not provided [RCV002716777] Chr9:113390504 [GRCh38]
Chr9:116152784 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.251G>A (p.Arg84Lys) single nucleotide variant not provided [RCV002629732] Chr9:113391537 [GRCh38]
Chr9:116153817 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.802-18C>T single nucleotide variant not provided [RCV002600627] Chr9:113389124 [GRCh38]
Chr9:116151404 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.589A>C (p.Ser197Arg) single nucleotide variant not provided [RCV002607322] Chr9:113389810 [GRCh38]
Chr9:116152090 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.478G>A (p.Ala160Thr) single nucleotide variant Inborn genetic diseases [RCV003176046] Chr9:113390596 [GRCh38]
Chr9:116152876 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.961C>T (p.Pro321Ser) single nucleotide variant Inborn genetic diseases [RCV003351767] Chr9:113388332 [GRCh38]
Chr9:116150612 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.903G>A (p.Leu301=) single nucleotide variant not provided [RCV003543874] Chr9:113389005 [GRCh38]
Chr9:116151285 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.164+10G>A single nucleotide variant not provided [RCV003872514] Chr9:113392109 [GRCh38]
Chr9:116154389 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.415G>A (p.Gly139Arg) single nucleotide variant Porphobilinogen synthase deficiency [RCV003486361] Chr9:113390659 [GRCh38]
Chr9:116152939 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.931+20G>T single nucleotide variant not provided [RCV003698641] Chr9:113388957 [GRCh38]
Chr9:116151237 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.492G>A (p.Val164=) single nucleotide variant not provided [RCV003705194] Chr9:113390483 [GRCh38]
Chr9:116152763 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.931+17G>A single nucleotide variant not provided [RCV003864510] Chr9:113388960 [GRCh38]
Chr9:116151240 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.114-8T>A single nucleotide variant not provided [RCV003710732] Chr9:113392177 [GRCh38]
Chr9:116154457 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.165-2A>G single nucleotide variant Porphobilinogen synthase deficiency [RCV003993650] Chr9:113391625 [GRCh38]
Chr9:116153905 [GRCh37]
Chr9:9q32		 likely pathogenic
NM_000031.6(ALAD):c.114-108C>T single nucleotide variant ALAD-related disorder [RCV003914208] Chr9:113392277 [GRCh38]
Chr9:116154557 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.572T>C (p.Val191Ala) single nucleotide variant Inborn genetic diseases [RCV004400259] Chr9:113389827 [GRCh38]
Chr9:116152107 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.664C>T (p.Arg222Cys) single nucleotide variant Inborn genetic diseases [RCV004400264]|not provided [RCV004767538] Chr9:113389649 [GRCh38]
Chr9:116151929 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.539A>G (p.Glu180Gly) single nucleotide variant Inborn genetic diseases [RCV004400252] Chr9:113390436 [GRCh38]
Chr9:116152716 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.91C>T (p.Leu31Phe) single nucleotide variant Inborn genetic diseases [RCV004627165] Chr9:113393469 [GRCh38]
Chr9:116155749 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.714+8del deletion ALAD-related disorder [RCV004758540] Chr9:113389591 [GRCh38]
Chr9:116151871 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.647C>T (p.Pro216Leu) single nucleotide variant Inborn genetic diseases [RCV004982412] Chr9:113389666 [GRCh38]
Chr9:116151946 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.49C>T (p.Arg17Trp) single nucleotide variant Inborn genetic diseases [RCV004983661] Chr9:113393511 [GRCh38]
Chr9:116155791 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.714+18G>C single nucleotide variant not provided [RCV005088064] Chr9:113389581 [GRCh38]
Chr9:116151861 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.780C>T (p.Ile260=) single nucleotide variant not provided [RCV005064136] Chr9:113389459 [GRCh38]
Chr9:116151739 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.654T>C (p.Phe218=) single nucleotide variant not provided [RCV005064535] Chr9:113389659 [GRCh38]
Chr9:116151939 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.571-14T>C single nucleotide variant not provided [RCV005064593] Chr9:113389842 [GRCh38]
Chr9:116152122 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.397+16C>T single nucleotide variant not provided [RCV005087507] Chr9:113390782 [GRCh38]
Chr9:116153062 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.498C>A (p.Ala166=) single nucleotide variant not provided [RCV005167920] Chr9:113390477 [GRCh38]
Chr9:116152757 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.901C>T (p.Leu301=) single nucleotide variant not provided [RCV005185671] Chr9:113389007 [GRCh38]
Chr9:116151287 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.288C>T (p.Ser96=) single nucleotide variant not provided [RCV005153442] Chr9:113390907 [GRCh38]
Chr9:116153187 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.503C>T (p.Ser168Leu) single nucleotide variant not provided [RCV005188745] Chr9:113390472 [GRCh38]
Chr9:116152752 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.330G>T (p.Lys110Asn) single nucleotide variant not provided [RCV005187600] Chr9:113390865 [GRCh38]
Chr9:116153145 [GRCh37]
Chr9:9q32		 uncertain significance
NM_000031.6(ALAD):c.753G>A (p.Val251=) single nucleotide variant not provided [RCV005159469] Chr9:113389486 [GRCh38]
Chr9:116151766 [GRCh37]
Chr9:9q32		 likely benign
NM_000031.6(ALAD):c.876G>A (p.Gly292=) single nucleotide variant not provided [RCV005069718] Chr9:113389032 [GRCh38]
Chr9:116151312 [GRCh37]
Chr9:9q32		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:3285
Count of miRNA genes:1123
Interacting mature miRNAs:1424
Transcripts:ENST00000277315, ENST00000409155, ENST00000445750, ENST00000448137, ENST00000452726, ENST00000464749, ENST00000468504, ENST00000482001, ENST00000482847, ENST00000494848
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
597306378GWAS1402452_Hlipid measurement QTL GWAS1402452 (human)4e-09lipid measurementblood lipid measurement (CMO:0000050)9113397838113397839Human
406995971GWAS644947_Hreticulocyte measurement QTL GWAS644947 (human)1e-14reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)9113391611113391612Human
597172810GWAS1268884_Hprotein measurement QTL GWAS1268884 (human)2e-60protein measurement9113391611113391612Human
597107461GWAS1203535_Hreticulocyte measurement QTL GWAS1203535 (human)1e-12reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)9113391611113391612Human
597172811GWAS1268885_Hprotein measurement QTL GWAS1268885 (human)2e-13protein measurement9113389221113389222Human
406985207GWAS634183_Hreticulocyte count QTL GWAS634183 (human)4e-14reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)9113391611113391612Human
597107504GWAS1203578_Hreticulocyte count QTL GWAS1203578 (human)9e-12reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)9113391611113391612Human
597523957GWAS1620031_Hprotein measurement QTL GWAS1620031 (human)3e-33protein measurement9113390710113390711Human

Markers in Region
RH71467  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379116,150,387 - 116,150,551UniSTSGRCh37
Build 369115,190,208 - 115,190,372RGDNCBI36
Celera986,797,989 - 86,798,153RGD
Cytogenetic Map9q33.1UniSTS
HuRef985,757,407 - 85,757,571UniSTS
GeneMap99-GB4 RH Map9357.94UniSTS
NCBI RH Map91000.4UniSTS
RH67978  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379116,148,695 - 116,148,841UniSTSGRCh37
Build 369115,188,516 - 115,188,662RGDNCBI36
Celera986,796,297 - 86,796,443RGD
Cytogenetic Map9q33.1UniSTS
HuRef985,755,715 - 85,755,861UniSTS
GDB:182364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379116,153,378 - 116,154,294UniSTSGRCh37
Build 369115,193,199 - 115,194,115RGDNCBI36
Celera986,800,980 - 86,801,896RGD
Cytogenetic Map9q33.1UniSTS
HuRef985,760,398 - 85,761,314UniSTS
G67280  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379116,155,651 - 116,156,049UniSTSGRCh37
Build 369115,195,472 - 115,195,870RGDNCBI36
Celera986,803,254 - 86,803,652RGD
Cytogenetic Map9q33.1UniSTS
HuRef985,762,672 - 85,763,070UniSTS
G67279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379116,151,160 - 116,151,433UniSTSGRCh37
Build 369115,190,981 - 115,191,254RGDNCBI36
Celera986,798,762 - 86,799,035RGD
Cytogenetic Map9q33.1UniSTS
HuRef985,758,180 - 85,758,453UniSTS
G67281  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379116,153,767 - 116,154,009UniSTSGRCh37
Build 369115,193,588 - 115,193,830RGDNCBI36
Celera986,801,369 - 86,801,611RGD
Cytogenetic Map9q33.1UniSTS
HuRef985,760,787 - 85,761,029UniSTS
G67282  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379116,152,931 - 116,153,374UniSTSGRCh37
Build 369115,192,752 - 115,193,195RGDNCBI36
Celera986,800,533 - 86,800,976RGD
Cytogenetic Map9q33.1UniSTS
HuRef985,759,951 - 85,760,394UniSTS
G67283  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379116,151,948 - 116,152,230UniSTSGRCh37
Build 369115,191,769 - 115,192,051RGDNCBI36
Celera986,799,550 - 86,799,832RGD
Cytogenetic Map9q33.1UniSTS
HuRef985,758,968 - 85,759,250UniSTS
G67278  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379116,151,817 - 116,152,105UniSTSGRCh37
Build 369115,191,638 - 115,191,926RGDNCBI36
Celera986,799,419 - 86,799,707RGD
Cytogenetic Map9q33.1UniSTS
HuRef985,758,837 - 85,759,125UniSTS
STS-X64467  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379116,150,475 - 116,150,652UniSTSGRCh37
Build 369115,190,296 - 115,190,473RGDNCBI36
Celera986,798,077 - 86,798,254RGD
Cytogenetic Map9q33.1UniSTS
HuRef985,757,495 - 85,757,672UniSTS
GeneMap99-GB4 RH Map9357.94UniSTS
MARC_17135-17136:1021046712:3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379116,151,295 - 116,151,774UniSTSGRCh37
Build 369115,191,116 - 115,191,595RGDNCBI36
Celera986,798,897 - 86,799,376RGD
HuRef985,758,315 - 85,758,794UniSTS


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 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001003945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA593706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU279870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY319481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU625796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX494400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA412142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA805310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S99468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S99471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X64467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000409155   ⟹   ENSP00000386284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9113,386,312 - 113,401,284 (-)Ensembl
Ensembl Acc Id: ENST00000445750   ⟹   ENSP00000398438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9113,393,545 - 113,396,875 (-)Ensembl
Ensembl Acc Id: ENST00000448137   ⟹   ENSP00000392748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9113,390,860 - 113,401,290 (-)Ensembl
Ensembl Acc Id: ENST00000452726   ⟹   ENSP00000415737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9113,392,132 - 113,397,402 (-)Ensembl
Ensembl Acc Id: ENST00000464749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9113,390,628 - 113,401,284 (-)Ensembl
Ensembl Acc Id: ENST00000468504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9113,389,791 - 113,401,258 (-)Ensembl
Ensembl Acc Id: ENST00000482001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9113,390,906 - 113,392,555 (-)Ensembl
Ensembl Acc Id: ENST00000482847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9113,386,319 - 113,401,243 (-)Ensembl
Ensembl Acc Id: ENST00000494848
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9113,393,161 - 113,401,284 (-)Ensembl
RefSeq Acc Id: NM_000031   ⟹   NP_000022
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389113,386,312 - 113,401,284 (-)NCBI
GRCh379116,148,592 - 116,163,618 (-)ENTREZGENE
Build 369115,188,413 - 115,203,391 (-)NCBI Archive
HuRef985,755,612 - 85,770,551 (-)ENTREZGENE
CHM1_19116,295,230 - 116,310,254 (-)NCBI
T2T-CHM13v2.09125,585,129 - 125,600,100 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001003945   ⟹   NP_001003945
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389113,386,312 - 113,401,284 (-)NCBI
Build 369115,188,413 - 115,203,391 (-)NCBI Archive
CHM1_19116,295,230 - 116,310,254 (-)NCBI
T2T-CHM13v2.09125,585,129 - 125,600,100 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001317745   ⟹   NP_001304674
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389113,386,312 - 113,401,120 (-)NCBI
CHM1_19116,295,230 - 116,310,036 (-)NCBI
T2T-CHM13v2.09125,585,129 - 125,599,936 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518364   ⟹   XP_011516666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389113,386,312 - 113,401,284 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047422944   ⟹   XP_047278900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389113,386,312 - 113,401,284 (-)NCBI
RefSeq Acc Id: XM_047422945   ⟹   XP_047278901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389113,386,312 - 113,401,284 (-)NCBI
RefSeq Acc Id: XM_047422946   ⟹   XP_047278902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389113,386,312 - 113,393,637 (-)NCBI
RefSeq Acc Id: XM_047422947   ⟹   XP_047278903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389113,386,312 - 113,401,284 (-)NCBI
RefSeq Acc Id: XM_054362306   ⟹   XP_054218281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09125,585,129 - 125,600,100 (-)NCBI
RefSeq Acc Id: XM_054362307   ⟹   XP_054218282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09125,585,129 - 125,600,114 (-)NCBI
RefSeq Acc Id: XM_054362308   ⟹   XP_054218283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09125,585,129 - 125,592,456 (-)NCBI
RefSeq Acc Id: XM_054362309   ⟹   XP_054218284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09125,585,129 - 125,600,100 (-)NCBI
Protein Sequences
Protein RefSeqs NP_000022 (Get FASTA)   NCBI Sequence Viewer  
  NP_001003945 (Get FASTA)   NCBI Sequence Viewer  
  NP_001304674 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516666 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278900 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278901 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278902 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278903 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218281 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218282 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218283 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218284 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA51687 (Get FASTA)   NCBI Sequence Viewer  
  AAC60581 (Get FASTA)   NCBI Sequence Viewer  
  AAC60582 (Get FASTA)   NCBI Sequence Viewer  
  AAH00977 (Get FASTA)   NCBI Sequence Viewer  
  AAP72012 (Get FASTA)   NCBI Sequence Viewer  
  AEE61006 (Get FASTA)   NCBI Sequence Viewer  
  BAD18635 (Get FASTA)   NCBI Sequence Viewer  
  BAF83179 (Get FASTA)   NCBI Sequence Viewer  
  BAG35449 (Get FASTA)   NCBI Sequence Viewer  
  BAH12225 (Get FASTA)   NCBI Sequence Viewer  
  CAA45796 (Get FASTA)   NCBI Sequence Viewer  
  EAW87379 (Get FASTA)   NCBI Sequence Viewer  
  EAW87380 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000386284
  ENSP00000386284.3
GenBank Protein P13716 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000022   ⟸   NM_000031
- Peptide Label: isoform b
- UniProtKB: Q16871 (UniProtKB/Swiss-Prot),   Q16870 (UniProtKB/Swiss-Prot),   B2R6F2 (UniProtKB/Swiss-Prot),   A8K375 (UniProtKB/Swiss-Prot),   Q9BVQ9 (UniProtKB/Swiss-Prot),   P13716 (UniProtKB/Swiss-Prot),   A0A140VJL9 (UniProtKB/TrEMBL),   B7Z3I9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001003945   ⟸   NM_001003945
- Peptide Label: isoform a
- UniProtKB: Q6ZMU0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011516666   ⟸   XM_011518364
- Peptide Label: isoform X3
- UniProtKB: B7Z3I9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304674   ⟸   NM_001317745
- Peptide Label: isoform c
- UniProtKB: B7Z3I9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000415737   ⟸   ENST00000452726
Ensembl Acc Id: ENSP00000398438   ⟸   ENST00000445750
Ensembl Acc Id: ENSP00000392748   ⟸   ENST00000448137
Ensembl Acc Id: ENSP00000386284   ⟸   ENST00000409155
RefSeq Acc Id: XP_047278903   ⟸   XM_047422947
- Peptide Label: isoform X4
- UniProtKB: B7Z3I9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278900   ⟸   XM_047422944
- Peptide Label: isoform X1
- UniProtKB: B7Z3I9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278901   ⟸   XM_047422945
- Peptide Label: isoform X1
- UniProtKB: B7Z3I9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278902   ⟸   XM_047422946
- Peptide Label: isoform X2
- UniProtKB: Q6ZMU0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054218282   ⟸   XM_054362307
- Peptide Label: isoform X1
- UniProtKB: B7Z3I9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054218284   ⟸   XM_054362309
- Peptide Label: isoform X3
- UniProtKB: B7Z3I9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054218281   ⟸   XM_054362306
- Peptide Label: isoform X1
- UniProtKB: B7Z3I9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054218283   ⟸   XM_054362308
- Peptide Label: isoform X2
- UniProtKB: Q6ZMU0 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P13716-F1-model_v2 AlphaFold P13716 1-330 view protein structure

Promoters
RGD ID:7215921
Promoter ID:EPDNEW_H13707
Type:initiation region
Name:ALAD_1
Description:aminolevulinate dehydratase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389113,401,284 - 113,401,344EPDNEW
RGD ID:6807225
Promoter ID:HG_KWN:64599
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000031,   OTTHUMT00000053726,   OTTHUMT00000330566,   OTTHUMT00000330567,   OTTHUMT00000330568,   UC004BHL.2
Position:
Human AssemblyChrPosition (strand)Source
Build 369115,203,224 - 115,203,724 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:395 AgrOrtholog
COSMIC ALAD COSMIC
Ensembl Genes ENSG00000148218 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000409155 ENTREZGENE
  ENST00000409155.8 UniProtKB/Swiss-Prot
  ENST00000482847 ENTREZGENE
Gene3D-CATH 3.20.20.70 UniProtKB/Swiss-Prot
GTEx ENSG00000148218 GTEx
HGNC ID HGNC:395 ENTREZGENE
Human Proteome Map ALAD Human Proteome Map
InterPro ALAD UniProtKB/Swiss-Prot
  ALAD_AS UniProtKB/Swiss-Prot
  Aldolase_TIM UniProtKB/Swiss-Prot
KEGG Report hsa:210 UniProtKB/Swiss-Prot
NCBI Gene 210 ENTREZGENE
OMIM 125270 OMIM
PANTHER DELTA-AMINOLEVULINIC ACID DEHYDRATASE UniProtKB/Swiss-Prot
  PTHR11458 UniProtKB/Swiss-Prot
Pfam ALAD UniProtKB/Swiss-Prot
PharmGKB PA24687 PharmGKB
PIRSF Porphbilin_synth UniProtKB/Swiss-Prot
PRINTS DALDHYDRTASE UniProtKB/Swiss-Prot
PROSITE D_ALA_DEHYDRATASE UniProtKB/Swiss-Prot
SMART ALAD UniProtKB/Swiss-Prot
Superfamily-SCOP Aldolase UniProtKB/Swiss-Prot
UniProt A0A140VJL9 ENTREZGENE, UniProtKB/TrEMBL
  A8K375 ENTREZGENE
  B2R6F2 ENTREZGENE
  B7Z3I9 ENTREZGENE, UniProtKB/TrEMBL
  B7ZBK6_HUMAN UniProtKB/TrEMBL
  B7ZBK7_HUMAN UniProtKB/TrEMBL
  B7ZBK8_HUMAN UniProtKB/TrEMBL
  HEM2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q16870 ENTREZGENE
  Q16871 ENTREZGENE
  Q6ZMU0 ENTREZGENE, UniProtKB/TrEMBL
  Q9BVQ9 ENTREZGENE
UniProt Secondary A8K375 UniProtKB/Swiss-Prot
  B2R6F2 UniProtKB/Swiss-Prot
  Q16870 UniProtKB/Swiss-Prot
  Q16871 UniProtKB/Swiss-Prot
  Q9BVQ9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 ALAD  aminolevulinate dehydratase  ALAD  aminolevulinate, delta-, dehydratase  Symbol and/or name change 5135510 APPROVED