PPOX (protoporphyrinogen oxidase) - Rat Genome Database

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Gene: PPOX (protoporphyrinogen oxidase) Homo sapiens
Analyze
Symbol: PPOX
Name: protoporphyrinogen oxidase
RGD ID: 1321506
HGNC Page HGNC:9280
Description: Enables oxygen-dependent protoporphyrinogen oxidase activity. Involved in heme biosynthetic process. Located in mitochondrial membrane. Implicated in variegate porphyria.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MGC8485; PPO; V290M; variegate porphyria; VP; VPCO
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381161,165,728 - 161,178,013 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1161,166,056 - 161,178,013 (+)EnsemblGRCh38hg38GRCh38
GRCh371161,136,216 - 161,141,010 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361159,402,818 - 159,407,634 (+)NCBINCBI36Build 36hg18NCBI36
Build 341157,949,266 - 157,954,085NCBI
Celera1134,203,334 - 134,208,163 (+)NCBICelera
Cytogenetic Map1q23.3NCBI
HuRef1132,493,123 - 132,497,952 (+)NCBIHuRef
CHM1_11162,532,431 - 162,537,260 (+)NCBICHM1_1
T2T-CHM13v2.01160,303,185 - 160,315,736 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal autonomic nervous system physiology  (IAGP)
Abnormal blistering of the skin  (IAGP)
Abnormal circulating enzyme concentration or activity  (IAGP)
Abnormal circulating porphyrin concentration  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Abnormality of the liver  (IAGP)
Abnormality of the nervous system  (IAGP)
Anemia  (IAGP)
Anxiety  (IAGP)
Atopic dermatitis  (IAGP)
Atypical behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Back pain  (IAGP)
Chest pain  (IAGP)
Childhood onset  (IAGP)
Chronic kidney disease  (IAGP)
Coma  (IAGP)
Constipation  (IAGP)
Cutaneous photosensitivity  (IAGP)
Delayed skeletal maturation  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Elevated urinary delta-aminolevulinic acid  (IAGP)
Epidermal hyperkeratosis  (IAGP)
Focal impaired awareness seizure  (IAGP)
Fragile skin  (IAGP)
Gastrointestinal stroma tumor  (IAGP)
Global developmental delay  (IAGP)
Hallucinations  (IAGP)
Hepatocellular carcinoma  (IAGP)
High myopia  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hyperreflexia  (IAGP)
Hypertension  (IAGP)
Hypertrichosis  (IAGP)
Hyponatremia  (IAGP)
Hypopigmentation of the skin  (IAGP)
Hyporeflexia  (IAGP)
Ileus  (IAGP)
Inappropriate antidiuretic hormone secretion  (IAGP)
Increased erythrocyte protoporphyrin concentration  (IAGP)
Increased fecal protoporphyrin concentration  (IAGP)
Increased urinary porphobilinogen  (IAGP)
Intellectual disability  (IAGP)
Localized skin lesion  (IAGP)
Migraine  (IAGP)
Milia  (IAGP)
Motor polyneuropathy  (IAGP)
Muscle weakness  (IAGP)
Nausea  (IAGP)
Neonatal onset  (IAGP)
Neurogenic bladder  (IAGP)
Paralysis  (IAGP)
Paranoia  (IAGP)
Parathyroid carcinoma  (IAGP)
Pendular nystagmus  (IAGP)
Peripheral neuropathy  (IAGP)
Porphyrinuria  (IAGP)
Proximal muscle weakness in upper limbs  (IAGP)
Psychosis  (IAGP)
Respiratory paralysis  (IAGP)
Scarring  (IAGP)
Seizure  (IAGP)
Sensory neuropathy  (IAGP)
Short finger  (IAGP)
Short metacarpal  (IAGP)
Skin erosion  (IAGP)
Skin vesicle  (IAGP)
Somatic sensory dysfunction  (IAGP)
Tachycardia  (IAGP)
Tetraparesis  (IAGP)
Thickened skin  (IAGP)
Vomiting  (IAGP)
Young adult onset  (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. 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.
3. Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria. Deybach JC, etal., Hum Mol Genet. 1996 Mar;5(3):407-10.
4. GenMAPP: Gene Map Annotator and Pathway Profiler GenMAPP
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. Variegate porphyria in South Africa, 1688-1996--new developments in an old disease. Hift RJ, etal., S Afr Med J. 1997 Jun;87(6):722-31.
7. Herbicide-induced experimental variegate porphyria in mice: tissue porphyrinogen accumulation and response to porphyrogenic drugs. Krijt J, etal., Can J Physiol Pharmacol. 1997 Oct-Nov;75(10-11):1181-7.
8. An h.p.l.c. assay for protoporphyrinogen oxidase activity in rat liver. Li F, etal., Biochem J. 1987 May 1;243(3):863-6.
9. Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria. Lindberg RL, etal., Nat Genet. 1996 Feb;12(2):195-9.
10. A mouse model for South African (R59W) variegate porphyria: construction and initial characterization. Medlock AE, etal., Cell Mol Biol (Noisy-le-grand). 2002 Feb;48(1):71-8.
11. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
12. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
13. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
14. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
16. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
17. Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation. Whatley SD, etal., Am J Hum Genet. 1999 Oct;65(4):984-94.
Additional References at PubMed
PMID:7713909   PMID:8288631   PMID:8554330   PMID:8575762   PMID:8673113   PMID:8771201   PMID:8806618   PMID:9003509   PMID:9074790   PMID:9763307   PMID:9811936   PMID:10457135  
PMID:10756096   PMID:10870850   PMID:11286631   PMID:11298551   PMID:11350188   PMID:12017191   PMID:12357337   PMID:12477932   PMID:12556518   PMID:12922165   PMID:14535846   PMID:14669009  
PMID:14702039   PMID:15231747   PMID:15489334   PMID:16169070   PMID:16344560   PMID:16621625   PMID:16947091   PMID:18191920   PMID:18624398   PMID:19229653   PMID:19656455   PMID:19656457  
PMID:20877624   PMID:21048046   PMID:21873635   PMID:21910705   PMID:23324528   PMID:23409300   PMID:23467411   PMID:23601071   PMID:25445397   PMID:25944804   PMID:26186194   PMID:26287972  
PMID:26687479   PMID:27499296   PMID:27667166   PMID:28514442   PMID:28986522   PMID:29507755   PMID:29550908   PMID:30385147   PMID:30463901   PMID:31540324   PMID:31586073   PMID:31617661  
PMID:31980649   PMID:32247286   PMID:32707033   PMID:33857841   PMID:33961781   PMID:34373451   PMID:34968794   PMID:35256949   PMID:35509820   PMID:36114006   PMID:36215168  


Genomics

Comparative Map Data
PPOX
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381161,165,728 - 161,178,013 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1161,166,056 - 161,178,013 (+)EnsemblGRCh38hg38GRCh38
GRCh371161,136,216 - 161,141,010 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361159,402,818 - 159,407,634 (+)NCBINCBI36Build 36hg18NCBI36
Build 341157,949,266 - 157,954,085NCBI
Celera1134,203,334 - 134,208,163 (+)NCBICelera
Cytogenetic Map1q23.3NCBI
HuRef1132,493,123 - 132,497,952 (+)NCBIHuRef
CHM1_11162,532,431 - 162,537,260 (+)NCBICHM1_1
T2T-CHM13v2.01160,303,185 - 160,315,736 (+)NCBIT2T-CHM13v2.0
Ppox
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391171,104,564 - 171,108,955 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1171,103,563 - 171,108,760 (-)EnsemblGRCm39 Ensembl
GRCm381171,276,991 - 171,281,193 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1171,275,990 - 171,281,186 (-)EnsemblGRCm38mm10GRCm38
MGSCv371173,207,123 - 173,211,317 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361173,113,667 - 173,117,835 (-)NCBIMGSCv36mm8
Celera1173,733,013 - 173,737,208 (-)NCBICelera
Cytogenetic Map1H3NCBI
cM Map179.3NCBI
Ppox
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81386,230,111 - 86,235,028 (-)NCBIGRCr8
mRatBN7.21383,697,661 - 83,701,998 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1383,664,891 - 83,701,805 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1386,203,532 - 86,207,667 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01387,601,739 - 87,605,874 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01384,833,201 - 84,837,337 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01389,650,094 - 89,654,998 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1389,650,094 - 89,654,244 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01394,276,960 - 94,281,296 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41387,170,602 - 87,174,740 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11387,359,527 - 87,363,605 (-)NCBI
Celera1383,328,348 - 83,332,483 (-)NCBICelera
Cytogenetic Map13q24NCBI
Ppox
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546812,930,495 - 12,934,437 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546812,930,387 - 12,934,437 (+)NCBIChiLan1.0ChiLan1.0
PPOX
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2188,673,982 - 88,685,936 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1188,351,824 - 88,376,257 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01136,578,846 - 136,590,466 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11140,491,667 - 140,496,506 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1140,491,667 - 140,502,328 (+)Ensemblpanpan1.1panPan2
PPOX
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13821,306,973 - 21,310,892 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3821,306,974 - 21,311,012 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3821,381,833 - 21,385,563 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03821,424,824 - 21,428,556 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3821,424,825 - 21,428,486 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13821,312,659 - 21,316,388 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03821,727,092 - 21,730,828 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03822,136,240 - 22,139,973 (-)NCBIUU_Cfam_GSD_1.0
Ppox
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244050587,261,120 - 7,266,047 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936903470,344 - 478,025 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936903470,317 - 474,705 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PPOX
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl489,284,500 - 89,288,902 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1489,277,984 - 89,288,946 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2497,134,711 - 97,145,648 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PPOX
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1202,814,571 - 2,819,384 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl202,814,571 - 2,818,936 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660381,861,663 - 1,867,108 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ppox
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624794212,226 - 215,931 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624794212,220 - 215,891 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PPOX
212 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
PPOX, 1-BP INS, 1022G insertion Variegate porphyria [RCV000009229] Chr1:1q22 pathogenic
NM_001122764.3(PPOX):c.538_539del (p.Ile180fs) deletion Variegate porphyria [RCV000009236] Chr1:161168498..161168499 [GRCh38]
Chr1:161138288..161138289 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.1241_1245del (p.Leu414fs) deletion Variegate porphyria [RCV000009237] Chr1:161170761..161170765 [GRCh38]
Chr1:161140551..161140555 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.657_658insAAGGCCAGCGCC (p.Ala219_Leu220insLysAlaSerAla) insertion Variegate porphyria, childhood-onset [RCV003324491] Chr1:161169030..161169031 [GRCh38]
Chr1:161138820..161138821 [GRCh37]
Chr1:1q23.3
pathogenic
PPOX, IVS11DS, G-A, -1 single nucleotide variant Variegate porphyria [RCV003324492]|Variegate porphyria, childhood-onset [RCV003324493] Chr1:1q22 pathogenic
NM_001122764.3(PPOX):c.694G>C (p.Gly232Arg) single nucleotide variant Variegate porphyria [RCV000009230]|not provided [RCV000816933] Chr1:161169070 [GRCh38]
Chr1:161138860 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys) single nucleotide variant Variegate porphyria [RCV000009231]|Variegate porphyria, childhood-onset [RCV003324488] Chr1:161168462 [GRCh38]
Chr1:161138252 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic
NM_001122764.3(PPOX):c.59A>C (p.His20Pro) single nucleotide variant Variegate porphyria [RCV000009232] Chr1:161166906 [GRCh38]
Chr1:161136696 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp) single nucleotide variant Variegate porphyria [RCV000009233]|Variegate porphyria, childhood-onset [RCV003324489]|not provided [RCV001232723] Chr1:161167187 [GRCh38]
Chr1:161136977 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.503G>A (p.Arg168His) single nucleotide variant See cases [RCV002251893]|Variegate porphyria [RCV000009234]|not provided [RCV000492944] Chr1:161168463 [GRCh38]
Chr1:161138253 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic
NM_001122764.3(PPOX):c.1046A>C (p.Asp349Ala) single nucleotide variant Variegate porphyria, childhood-onset [RCV003324490] Chr1:161170467 [GRCh38]
Chr1:161140257 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.35T>C (p.Ile12Thr) single nucleotide variant Variegate porphyria [RCV003324494]|Variegate porphyria, childhood-onset [RCV003324495] Chr1:161166882 [GRCh38]
Chr1:161136672 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) single nucleotide variant PPOX-related condition [RCV003924820]|Variegate porphyria [RCV000986448]|Variegate porphyria, childhood-onset [RCV003324496]|not provided [RCV000961007] Chr1:161169143 [GRCh38]
Chr1:161138933 [GRCh37]
Chr1:1q23.3
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 1q23.3(chr1:160866658-161315114)x3 copy number gain See cases [RCV000051555] Chr1:160866658..161315114 [GRCh38]
Chr1:160836448..161284904 [GRCh37]
Chr1:159103072..159551528 [NCBI36]
Chr1:1q23.3
uncertain significance
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 1q23.3-24.2(chr1:160789732-168617494)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|See cases [RCV000053913] Chr1:160789732..168617494 [GRCh38]
Chr1:160759522..168586732 [GRCh37]
Chr1:159026146..166853356 [NCBI36]
Chr1:1q23.3-24.2
pathogenic
NM_001122764.1(PPOX):c.1322G>A (p.Arg441Lys) single nucleotide variant Malignant melanoma [RCV000064270] Chr1:161171064 [GRCh38]
Chr1:161140854 [GRCh37]
Chr1:159407478 [NCBI36]
Chr1:1q23.3
not provided
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_001122764.3(PPOX):c.199del (p.Ala66_Leu67insTer) deletion Variegate porphyria [RCV000169672]|not provided [RCV002515204] Chr1:161167209 [GRCh38]
Chr1:161136999 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic
NM_001122764.3(PPOX):c.-1C>T single nucleotide variant Variegate porphyria [RCV000259372] Chr1:161166847 [GRCh38]
Chr1:161136637 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1062T>C (p.Pro354=) single nucleotide variant Variegate porphyria [RCV000386827]|not provided [RCV003765707] Chr1:161170483 [GRCh38]
Chr1:161140273 [GRCh37]
Chr1:1q23.3
likely benign|uncertain significance
NM_001122764.3(PPOX):c.1303C>T (p.Gln435Ter) single nucleotide variant Variegate porphyria [RCV000397500]|not provided [RCV001063622] Chr1:161171045 [GRCh38]
Chr1:161140835 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic|uncertain significance
NM_001122764.3(PPOX):c.911G>A (p.Arg304His) single nucleotide variant Variegate porphyria [RCV000295963]|not provided [RCV001511215]|not specified [RCV001699425] Chr1:161169948 [GRCh38]
Chr1:161139738 [GRCh37]
Chr1:1q23.3
benign|likely benign
NM_001122764.3(PPOX):c.646A>G (p.Ile216Val) single nucleotide variant Variegate porphyria [RCV000381079] Chr1:161169022 [GRCh38]
Chr1:161138812 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.471+3G>A single nucleotide variant Variegate porphyria [RCV000384355]|not provided [RCV001859751] Chr1:161168130 [GRCh38]
Chr1:161137920 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.360C>T (p.Pro120=) single nucleotide variant Variegate porphyria [RCV000320517]|not provided [RCV000891857] Chr1:161168016 [GRCh38]
Chr1:161137806 [GRCh37]
Chr1:1q23.3
benign|uncertain significance
NM_001122764.3(PPOX):c.87+13C>T single nucleotide variant Variegate porphyria [RCV000360040]|not provided [RCV002059341] Chr1:161166947 [GRCh38]
Chr1:161136737 [GRCh37]
Chr1:1q23.3
benign|uncertain significance
NM_001122764.3(PPOX):c.617-6C>T single nucleotide variant Variegate porphyria [RCV000326243]|not provided [RCV000899662] Chr1:161168987 [GRCh38]
Chr1:161138777 [GRCh37]
Chr1:1q23.3
benign|uncertain significance
NM_001122764.3(PPOX):c.936G>A (p.Val312=) single nucleotide variant Variegate porphyria [RCV000332321]|not provided [RCV003727643] Chr1:161169973 [GRCh38]
Chr1:161139763 [GRCh37]
Chr1:1q23.3
benign|uncertain significance
NM_001122764.3(PPOX):c.1248+4A>G single nucleotide variant Variegate porphyria [RCV000338262]|not provided [RCV003727644] Chr1:161170773 [GRCh38]
Chr1:161140563 [GRCh37]
Chr1:1q23.3
likely benign|uncertain significance
NM_001122764.3(PPOX):c.-128C>G single nucleotide variant Variegate porphyria [RCV000301347]|not provided [RCV001636850] Chr1:161166553 [GRCh38]
Chr1:161136343 [GRCh37]
Chr1:1q23.3
benign|likely benign
NM_001122764.3(PPOX):c.-2G>T single nucleotide variant Variegate porphyria [RCV000356151] Chr1:161166846 [GRCh38]
Chr1:161136636 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.-247C>A single nucleotide variant Variegate porphyria [RCV000289768]|not provided [RCV001668639] Chr1:161166434 [GRCh38]
Chr1:161136224 [GRCh37]
Chr1:1q23.3
benign|likely benign
NM_001122764.3(PPOX):c.-251G>C single nucleotide variant Variegate porphyria [RCV000384128] Chr1:161166430 [GRCh38]
Chr1:161136220 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.-246G>T single nucleotide variant Variegate porphyria [RCV000344696]|not provided [RCV000936874] Chr1:161166435 [GRCh38]
Chr1:161136225 [GRCh37]
Chr1:1q23.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001122764.3(PPOX):c.-149G>T single nucleotide variant Variegate porphyria [RCV000390367] Chr1:161166532 [GRCh38]
Chr1:161136322 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.-151G>T single nucleotide variant Variegate porphyria [RCV000350391] Chr1:161166530 [GRCh38]
Chr1:161136320 [GRCh37]
Chr1:1q23.3
likely benign|uncertain significance
NM_001122764.3(PPOX):c.522C>T (p.Asn174=) single nucleotide variant Variegate porphyria [RCV000271176] Chr1:161168482 [GRCh38]
Chr1:161138272 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.338+9A>G single nucleotide variant Variegate porphyria [RCV000265142] Chr1:161167495 [GRCh38]
Chr1:161137285 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.-174A>G single nucleotide variant Variegate porphyria [RCV000314324] Chr1:161166507 [GRCh38]
Chr1:161136297 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1087C>G (p.Leu363Val) single nucleotide variant Variegate porphyria [RCV000292607] Chr1:161170508 [GRCh38]
Chr1:161140298 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.69G>T (p.Arg23=) single nucleotide variant Variegate porphyria [RCV000305272] Chr1:161166916 [GRCh38]
Chr1:161136706 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_003779.4(B4GALT3):c.758A>G (p.Asn253Ser) single nucleotide variant Inborn genetic diseases [RCV003242916] Chr1:161173650 [GRCh38]
Chr1:161143440 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.-180T>C single nucleotide variant Variegate porphyria [RCV000394707] Chr1:161166501 [GRCh38]
Chr1:161136291 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1281G>A (p.Trp427Ter) single nucleotide variant Abnormal blistering of the skin [RCV000415419]|not provided [RCV003486825] Chr1:161170939 [GRCh38]
Chr1:161140729 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic
GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325) copy number loss not provided [RCV000767779] Chr1:160369890..175796325 [GRCh37]
Chr1:1q23.2-25.1
pathogenic
NM_001122764.3(PPOX):c.367T>A (p.Ser123Thr) single nucleotide variant not provided [RCV000481278] Chr1:161168023 [GRCh38]
Chr1:161137813 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.590T>C (p.Ile197Thr) single nucleotide variant Acute intermittent porphyria [RCV001844183] Chr1:161168550 [GRCh38]
Chr1:161138340 [GRCh37]
Chr1:1q23.3
not provided
NM_001122764.3(PPOX):c.968_970del (p.Gly323del) deletion not provided [RCV000497674] Chr1:161170003..161170005 [GRCh38]
Chr1:161139793..161139795 [GRCh37]
Chr1:1q23.3
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_001122764.3(PPOX):c.1161G>C (p.Glu387Asp) single nucleotide variant Inborn genetic diseases [RCV003252231] Chr1:161170682 [GRCh38]
Chr1:161140472 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1353T>G (p.Tyr451Ter) single nucleotide variant Migraine [RCV000626658] Chr1:161171095 [GRCh38]
Chr1:161140885 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.1423C>G (p.Pro475Ala) single nucleotide variant Inborn genetic diseases [RCV003258023] Chr1:161171165 [GRCh38]
Chr1:161140955 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_003779.4(B4GALT3):c.1091C>T (p.Ala364Val) single nucleotide variant Inborn genetic diseases [RCV003244402] Chr1:161171907 [GRCh38]
Chr1:161141697 [GRCh37]
Chr1:1q23.3
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
NM_001122764.3(PPOX):c.869-3_869-2del deletion Variegate porphyria [RCV000761331] Chr1:161169903..161169904 [GRCh38]
Chr1:161139693..161139694 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_001122764.3(PPOX):c.29G>A (p.Gly10Glu) single nucleotide variant not provided [RCV001060924] Chr1:161166876 [GRCh38]
Chr1:161136666 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance
NM_001122764.3(PPOX):c.1317T>G (p.Ala439=) single nucleotide variant not provided [RCV000927572] Chr1:161171059 [GRCh38]
Chr1:161140849 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.1248+5G>C single nucleotide variant not provided [RCV000946515] Chr1:161170774 [GRCh38]
Chr1:161140564 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.338+1G>A single nucleotide variant not provided [RCV001035226] Chr1:161167487 [GRCh38]
Chr1:161137277 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.1206A>C (p.Gly402=) single nucleotide variant Variegate porphyria [RCV002505464]|not provided [RCV000967920] Chr1:161170727 [GRCh38]
Chr1:161140517 [GRCh37]
Chr1:1q23.3
benign|likely benign
NM_001122764.3(PPOX):c.565C>T (p.Gln189Ter) single nucleotide variant not provided [RCV000806934] Chr1:161168525 [GRCh38]
Chr1:161138315 [GRCh37]
Chr1:1q23.3
pathogenic
NC_000001.10:g.(?_160786670)_(161332233_?)dup duplication Gastrointestinal stromal tumor [RCV000792787] Chr1:160816880..161362443 [GRCh38]
Chr1:160786670..161332233 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.31G>T (p.Gly11Cys) single nucleotide variant not provided [RCV000818438] Chr1:161166878 [GRCh38]
Chr1:161136668 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.660G>T (p.Leu220Phe) single nucleotide variant not provided [RCV000803811] Chr1:161169036 [GRCh38]
Chr1:161138826 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1092_1093del (p.Arg364fs) microsatellite not provided [RCV000796842] Chr1:161170511..161170512 [GRCh38]
Chr1:161140301..161140302 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV000812153] Chr1:161166849 [GRCh38]
Chr1:161136639 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.454C>T (p.Arg152Cys) single nucleotide variant not provided [RCV000822336] Chr1:161168110 [GRCh38]
Chr1:161137900 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.349C>T (p.Arg117Cys) single nucleotide variant Variegate porphyria [RCV001097057] Chr1:161168005 [GRCh38]
Chr1:161137795 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1291+1G>C single nucleotide variant not provided [RCV000799243] Chr1:161170950 [GRCh38]
Chr1:161140740 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_001122764.3(PPOX):c.745dup (p.Val249fs) duplication Variegate porphyria [RCV002271591]|not provided [RCV000822922] Chr1:161169115..161169116 [GRCh38]
Chr1:161138905..161138906 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.78C>A (p.Cys26Ter) single nucleotide variant not provided [RCV000804709] Chr1:161166925 [GRCh38]
Chr1:161136715 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.1072G>A (p.Gly358Arg) single nucleotide variant Variegate porphyria [RCV001169976]|Variegate porphyria, childhood-onset [RCV003328475]|not provided [RCV001339128] Chr1:161170493 [GRCh38]
Chr1:161140283 [GRCh37]
Chr1:1q23.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3 copy number gain not provided [RCV000849025] Chr1:160744174..162583871 [GRCh37]
Chr1:1q23.3
uncertain significance
GRCh37/hg19 1q23.3(chr1:161134612-161422225)x3 copy number gain not provided [RCV000848107] Chr1:161134612..161422225 [GRCh37]
Chr1:1q23.3
uncertain significance
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
GRCh37/hg19 1q23.3(chr1:161134675-161652307)x3 copy number gain not provided [RCV001005146] Chr1:161134675..161652307 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.83C>T (p.Pro28Leu) single nucleotide variant not provided [RCV001234672] Chr1:161166930 [GRCh38]
Chr1:161136720 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1091_1092delinsAG (p.Arg364Lys) indel not provided [RCV001238186] Chr1:161170512..161170513 [GRCh38]
Chr1:161140302..161140303 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.67C>T (p.Arg23Trp) single nucleotide variant not provided [RCV003159532] Chr1:161166914 [GRCh38]
Chr1:161136704 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.559C>T (p.Leu187Phe) single nucleotide variant Variegate porphyria [RCV001097058] Chr1:161168519 [GRCh38]
Chr1:161138309 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1248+19C>T single nucleotide variant not provided [RCV003107152] Chr1:161170788 [GRCh38]
Chr1:161140578 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.87+10C>T single nucleotide variant not provided [RCV000925072] Chr1:161166944 [GRCh38]
Chr1:161136734 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.100G>A (p.Glu34Lys) single nucleotide variant not provided [RCV001214091] Chr1:161167112 [GRCh38]
Chr1:161136902 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.31G>A (p.Gly11Ser) single nucleotide variant not provided [RCV001205622] Chr1:161166878 [GRCh38]
Chr1:161136668 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.545C>A (p.Ser182Tyr) single nucleotide variant not provided [RCV001206497] Chr1:161168505 [GRCh38]
Chr1:161138295 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.72C>A (p.Ala24=) single nucleotide variant not provided [RCV000912804] Chr1:161166919 [GRCh38]
Chr1:161136709 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.491A>G (p.Asp164Gly) single nucleotide variant Variegate porphyria [RCV002471400] Chr1:161168451 [GRCh38]
Chr1:161138241 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_003779.4(B4GALT3):c.644G>A (p.Arg215His) single nucleotide variant Inborn genetic diseases [RCV003276356] Chr1:161173895 [GRCh38]
Chr1:161143685 [GRCh37]
Chr1:1q23.3
uncertain significance
GRCh37/hg19 1q23.3(chr1:160977795-161189147)x3 copy number gain not provided [RCV001005145] Chr1:160977795..161189147 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.987+137C>T single nucleotide variant not provided [RCV001620490] Chr1:161170161 [GRCh38]
Chr1:161139951 [GRCh37]
Chr1:1q23.3
benign
NM_001122764.3(PPOX):c.597G>T (p.Leu199=) single nucleotide variant Variegate porphyria [RCV001098796] Chr1:161168557 [GRCh38]
Chr1:161138347 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.649C>T (p.Arg217Cys) single nucleotide variant Variegate porphyria [RCV001098797] Chr1:161169025 [GRCh38]
Chr1:161138815 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.844G>A (p.Val282Ile) single nucleotide variant Variegate porphyria [RCV001098798]|not provided [RCV001856338] Chr1:161169696 [GRCh38]
Chr1:161139486 [GRCh37]
Chr1:1q23.3
uncertain significance
NC_000001.11:g.(?_160816880)_(161362518_?)dup duplication Gastrointestinal stromal tumor [RCV001031279] Chr1:160786670..161332308 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1220C>T (p.Pro407Leu) single nucleotide variant Variegate porphyria [RCV001100624]|not provided [RCV001873491] Chr1:161170741 [GRCh38]
Chr1:161140531 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.338+98del deletion not provided [RCV001666045] Chr1:161167558 [GRCh38]
Chr1:161137348 [GRCh37]
Chr1:1q23.3
benign
NM_001122764.3(PPOX):c.338+182G>A single nucleotide variant not provided [RCV001690535] Chr1:161167668 [GRCh38]
Chr1:161137458 [GRCh37]
Chr1:1q23.3
benign
NM_001122764.3(PPOX):c.-211C>A single nucleotide variant Variegate porphyria [RCV001102459] Chr1:161166470 [GRCh38]
Chr1:161136260 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1318C>T (p.His440Tyr) single nucleotide variant Variegate porphyria [RCV001100625] Chr1:161171060 [GRCh38]
Chr1:161140850 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1358G>A (p.Gly453Glu) single nucleotide variant not provided [RCV001040852] Chr1:161171100 [GRCh38]
Chr1:161140890 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1291+1G>T single nucleotide variant Variegate porphyria [RCV001253784] Chr1:161170950 [GRCh38]
Chr1:161140740 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_001122764.3(PPOX):c.538A>G (p.Ile180Val) single nucleotide variant not provided [RCV001349157] Chr1:161168498 [GRCh38]
Chr1:161138288 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.742G>C (p.Gly248Arg) single nucleotide variant not provided [RCV001302216] Chr1:161169118 [GRCh38]
Chr1:161138908 [GRCh37]
Chr1:1q23.3
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_001122764.3(PPOX):c.70G>A (p.Ala24Thr) single nucleotide variant not provided [RCV001361826] Chr1:161166917 [GRCh38]
Chr1:161136707 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1280G>A (p.Trp427Ter) single nucleotide variant not provided [RCV001382596] Chr1:161170938 [GRCh38]
Chr1:161140728 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.71C>T (p.Ala24Val) single nucleotide variant not provided [RCV001397121] Chr1:161166918 [GRCh38]
Chr1:161136708 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.488T>C (p.Met163Thr) single nucleotide variant not provided [RCV001360152] Chr1:161168448 [GRCh38]
Chr1:161138238 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.661G>A (p.Ala221Thr) single nucleotide variant Inborn genetic diseases [RCV002550083]|not provided [RCV001369339] Chr1:161169037 [GRCh38]
Chr1:161138827 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.842A>G (p.His281Arg) single nucleotide variant not provided [RCV001342587] Chr1:161169694 [GRCh38]
Chr1:161139484 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.650G>A (p.Arg217His) single nucleotide variant not provided [RCV001372645] Chr1:161169026 [GRCh38]
Chr1:161138816 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.361C>A (p.Pro121Thr) single nucleotide variant not provided [RCV001299378] Chr1:161168017 [GRCh38]
Chr1:161137807 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.494G>A (p.Ser165Asn) single nucleotide variant not provided [RCV001298409] Chr1:161168454 [GRCh38]
Chr1:161138244 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.987+5G>T single nucleotide variant not provided [RCV001365957] Chr1:161170029 [GRCh38]
Chr1:161139819 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.477G>A (p.Ala159=) single nucleotide variant not provided [RCV001505701] Chr1:161168437 [GRCh38]
Chr1:161138227 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.133del (p.Ser45fs) deletion not provided [RCV001385319] Chr1:161167145 [GRCh38]
Chr1:161136935 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.807+2T>C single nucleotide variant not provided [RCV001377308] Chr1:161169185 [GRCh38]
Chr1:161138975 [GRCh37]
Chr1:1q23.3
likely pathogenic
NC_000001.11:g.161165769A>G single nucleotide variant not provided [RCV001518449] Chr1:161165769 [GRCh38]
Chr1:161135559 [GRCh37]
Chr1:1q23.3
benign
NM_001122764.3(PPOX):c.338+2dup duplication not provided [RCV001379217] Chr1:161167487..161167488 [GRCh38]
Chr1:161137277..161137278 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_001122764.3(PPOX):c.741G>T (p.Arg247Ser) single nucleotide variant not provided [RCV001430995] Chr1:161169117 [GRCh38]
Chr1:161138907 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.1147_1148del (p.Val383fs) microsatellite not provided [RCV001387745] Chr1:161170665..161170666 [GRCh38]
Chr1:161140455..161140456 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.88-47C>G single nucleotide variant not provided [RCV001673454] Chr1:161167053 [GRCh38]
Chr1:161136843 [GRCh37]
Chr1:1q23.3
benign
NM_001122764.3(PPOX):c.139C>T (p.Arg47Ter) single nucleotide variant not provided [RCV001385320] Chr1:161167151 [GRCh38]
Chr1:161136941 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.1042dup (p.Tyr348fs) duplication not provided [RCV001385321] Chr1:161170462..161170463 [GRCh38]
Chr1:161140252..161140253 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.702G>A (p.Glu234=) single nucleotide variant not provided [RCV001418177] Chr1:161169078 [GRCh38]
Chr1:161138868 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.843C>T (p.His281=) single nucleotide variant PPOX-related condition [RCV003953767]|not provided [RCV001416694] Chr1:161169695 [GRCh38]
Chr1:161139485 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.1006C>G (p.Pro336Ala) single nucleotide variant not provided [RCV001768945] Chr1:161170427 [GRCh38]
Chr1:161140217 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.263G>T (p.Arg88Leu) single nucleotide variant not provided [RCV001765263] Chr1:161167411 [GRCh38]
Chr1:161137201 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1018_1020del (p.Asp340del) deletion not provided [RCV001764854] Chr1:161170439..161170441 [GRCh38]
Chr1:161140229..161140231 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.848T>C (p.Ile283Thr) single nucleotide variant Abnormality of metabolism/homeostasis [RCV001814441] Chr1:161169700 [GRCh38]
Chr1:161139490 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_001122764.3(PPOX):c.987G>C (p.Gln329His) single nucleotide variant not provided [RCV001970569] Chr1:161170024 [GRCh38]
Chr1:161139814 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.744G>A (p.Gly248=) single nucleotide variant not provided [RCV001948272] Chr1:161169120 [GRCh38]
Chr1:161138910 [GRCh37]
Chr1:1q23.3
likely benign
GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042) copy number loss not specified [RCV002053658] Chr1:160417296..166197042 [GRCh37]
Chr1:1q23.2-24.1
pathogenic
NM_001350128.2(PPOX):c.354-415del deletion not provided [RCV002002379] Chr1:161167994 [GRCh38]
Chr1:161137784 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.617-3C>A single nucleotide variant not provided [RCV001966863] Chr1:161168990 [GRCh38]
Chr1:161138780 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.254T>C (p.Leu85Pro) single nucleotide variant not provided [RCV002005002] Chr1:161167402 [GRCh38]
Chr1:161137192 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_001122764.3(PPOX):c.851G>T (p.Ser284Ile) single nucleotide variant not provided [RCV001908880] Chr1:161169703 [GRCh38]
Chr1:161139493 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.397G>T (p.Glu133Ter) single nucleotide variant not provided [RCV001949335] Chr1:161168053 [GRCh38]
Chr1:161137843 [GRCh37]
Chr1:1q23.3
pathogenic
GRCh37/hg19 1q23.3(chr1:160859558-161409185)x3 copy number gain not provided [RCV001829131] Chr1:160859558..161409185 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_001122764.3(PPOX):c.384_397dup (p.Glu133delinsGlyLeuGlyTer) duplication not provided [RCV001939468] Chr1:161168038..161168039 [GRCh38]
Chr1:161137828..161137829 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.808-1G>A single nucleotide variant not provided [RCV002035367] Chr1:161169659 [GRCh38]
Chr1:161139449 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.1198C>A (p.Gln400Lys) single nucleotide variant not provided [RCV001905834] Chr1:161170719 [GRCh38]
Chr1:161140509 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.503G>T (p.Arg168Leu) single nucleotide variant not provided [RCV001953053] Chr1:161168463 [GRCh38]
Chr1:161138253 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.997C>T (p.His333Tyr) single nucleotide variant not provided [RCV002029088] Chr1:161170418 [GRCh38]
Chr1:161140208 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.8G>A (p.Arg3Gln) single nucleotide variant not provided [RCV001957496] Chr1:161166855 [GRCh38]
Chr1:161136645 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1263G>C (p.Gln421His) single nucleotide variant not provided [RCV002029542] Chr1:161170921 [GRCh38]
Chr1:161140711 [GRCh37]
Chr1:1q23.3
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_001122764.3(PPOX):c.38G>A (p.Ser13Asn) single nucleotide variant not provided [RCV002017509] Chr1:161166885 [GRCh38]
Chr1:161136675 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.803G>A (p.Trp268Ter) single nucleotide variant not provided [RCV001953546] Chr1:161169179 [GRCh38]
Chr1:161138969 [GRCh37]
Chr1:1q23.3
pathogenic
NC_000001.10:g.(?_161137765)_(161138386_?)del deletion not provided [RCV001939601] Chr1:161137765..161138386 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.23T>C (p.Leu8Pro) single nucleotide variant not provided [RCV002045998] Chr1:161166870 [GRCh38]
Chr1:161136660 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.708G>T (p.Leu236Phe) single nucleotide variant not provided [RCV001975895] Chr1:161169084 [GRCh38]
Chr1:161138874 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.471+14A>G single nucleotide variant not provided [RCV002147801] Chr1:161168141 [GRCh38]
Chr1:161137931 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.1248+16C>A single nucleotide variant not provided [RCV002111760] Chr1:161170785 [GRCh38]
Chr1:161140575 [GRCh37]
Chr1:1q23.3
benign
NM_001122764.3(PPOX):c.1041G>T (p.Val347=) single nucleotide variant not provided [RCV002211583] Chr1:161170462 [GRCh38]
Chr1:161140252 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.1296A>G (p.Ser432=) single nucleotide variant Variegate porphyria [RCV002243528]|not provided [RCV002194263] Chr1:161171038 [GRCh38]
Chr1:161140828 [GRCh37]
Chr1:1q23.3
likely benign|uncertain significance
NM_001122764.3(PPOX):c.658T>C (p.Leu220=) single nucleotide variant not provided [RCV002171663] Chr1:161169034 [GRCh38]
Chr1:161138824 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.219C>T (p.Leu73=) single nucleotide variant not provided [RCV002198391] Chr1:161167231 [GRCh38]
Chr1:161137021 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.987+16G>A single nucleotide variant not provided [RCV002136788] Chr1:161170040 [GRCh38]
Chr1:161139830 [GRCh37]
Chr1:1q23.3
benign
NM_001122764.3(PPOX):c.1098+9G>A single nucleotide variant not provided [RCV002181049] Chr1:161170528 [GRCh38]
Chr1:161140318 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.1263G>A (p.Gln421=) single nucleotide variant not provided [RCV002101741] Chr1:161170921 [GRCh38]
Chr1:161140711 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.300C>T (p.Tyr100=) single nucleotide variant not provided [RCV002141758] Chr1:161167448 [GRCh38]
Chr1:161137238 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.761G>A (p.Gly254Asp) single nucleotide variant not provided [RCV003487055] Chr1:161169137 [GRCh38]
Chr1:161138927 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.338G>C (p.Arg113Thr) single nucleotide variant Variegate porphyria [RCV002281665] Chr1:161167486 [GRCh38]
Chr1:161137276 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.719T>C (p.Leu240Pro) single nucleotide variant not provided [RCV002297896] Chr1:161169095 [GRCh38]
Chr1:161138885 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1114T>C (p.Ser372Pro) single nucleotide variant not provided [RCV002861965] Chr1:161170635 [GRCh38]
Chr1:161140425 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_003779.4(B4GALT3):c.634C>T (p.Arg212Trp) single nucleotide variant Inborn genetic diseases [RCV002682183] Chr1:161173905 [GRCh38]
Chr1:161143695 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1115C>A (p.Ser372Tyr) single nucleotide variant Inborn genetic diseases [RCV002901906] Chr1:161170636 [GRCh38]
Chr1:161140426 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1421A>G (p.Glu474Gly) single nucleotide variant not provided [RCV002616393] Chr1:161171163 [GRCh38]
Chr1:161140953 [GRCh37]
Chr1:1q23.3
likely benign
NM_003779.4(B4GALT3):c.727G>A (p.Asp243Asn) single nucleotide variant Inborn genetic diseases [RCV002864290] Chr1:161173681 [GRCh38]
Chr1:161143471 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_003779.4(B4GALT3):c.1162G>T (p.Ala388Ser) single nucleotide variant Inborn genetic diseases [RCV002946406] Chr1:161171836 [GRCh38]
Chr1:161141626 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.528T>G (p.Arg176=) single nucleotide variant not provided [RCV002839381] Chr1:161168488 [GRCh38]
Chr1:161138278 [GRCh37]
Chr1:1q23.3
likely benign
GRCh37/hg19 1q23.3(chr1:160778879-161190622)x3 copy number gain not provided [RCV002475740] Chr1:160778879..161190622 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.332G>T (p.Gly111Val) single nucleotide variant Inborn genetic diseases [RCV002778317] Chr1:161167480 [GRCh38]
Chr1:161137270 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1154C>T (p.Ser385Phe) single nucleotide variant not provided [RCV003017202] Chr1:161170675 [GRCh38]
Chr1:161140465 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1164G>C (p.Leu388=) single nucleotide variant not provided [RCV003055406] Chr1:161170685 [GRCh38]
Chr1:161140475 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.616G>C (p.Gly206Arg) single nucleotide variant not provided [RCV002871524] Chr1:161168576 [GRCh38]
Chr1:161138366 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1003G>A (p.Val335Met) single nucleotide variant Inborn genetic diseases [RCV002868229] Chr1:161170424 [GRCh38]
Chr1:161140214 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1175G>A (p.Arg392Gln) single nucleotide variant Inborn genetic diseases [RCV003289575]|not provided [RCV002638915] Chr1:161170696 [GRCh38]
Chr1:161140486 [GRCh37]
Chr1:1q23.3
likely benign|uncertain significance
NM_001122764.3(PPOX):c.1139G>C (p.Ser380Thr) single nucleotide variant Inborn genetic diseases [RCV002759641] Chr1:161170660 [GRCh38]
Chr1:161140450 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.471+10G>C single nucleotide variant not provided [RCV002867761] Chr1:161168137 [GRCh38]
Chr1:161137927 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.1317T>C (p.Ala439=) single nucleotide variant not provided [RCV002571104] Chr1:161171059 [GRCh38]
Chr1:161140849 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.208C>T (p.Arg70Trp) single nucleotide variant not provided [RCV002820467] Chr1:161167220 [GRCh38]
Chr1:161137010 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_003779.4(B4GALT3):c.17T>C (p.Leu6Pro) single nucleotide variant Inborn genetic diseases [RCV002703939] Chr1:161176044 [GRCh38]
Chr1:161145834 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.583C>T (p.Arg195Cys) single nucleotide variant Inborn genetic diseases [RCV002788923] Chr1:161168543 [GRCh38]
Chr1:161138333 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.799C>T (p.Arg267Cys) single nucleotide variant Inborn genetic diseases [RCV002709870]|not provided [RCV003738349] Chr1:161169175 [GRCh38]
Chr1:161138965 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.399G>A (p.Glu133=) single nucleotide variant not provided [RCV002957447] Chr1:161168055 [GRCh38]
Chr1:161137845 [GRCh37]
Chr1:1q23.3
benign
NM_001122764.3(PPOX):c.1082dup (p.Gly362fs) duplication not provided [RCV002664189] Chr1:161170497..161170498 [GRCh38]
Chr1:161140287..161140288 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic
NM_001122764.3(PPOX):c.276A>T (p.Pro92=) single nucleotide variant not provided [RCV002625467] Chr1:161167424 [GRCh38]
Chr1:161137214 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.689G>A (p.Arg230His) single nucleotide variant Inborn genetic diseases [RCV002787360] Chr1:161169065 [GRCh38]
Chr1:161138855 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.87+8C>A single nucleotide variant not provided [RCV002872597] Chr1:161166942 [GRCh38]
Chr1:161136732 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.527G>A (p.Arg176His) single nucleotide variant not provided [RCV002766241] Chr1:161168487 [GRCh38]
Chr1:161138277 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.306C>T (p.Gly102=) single nucleotide variant not provided [RCV002577678] Chr1:161167454 [GRCh38]
Chr1:161137244 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.988-3C>T single nucleotide variant not provided [RCV002602943] Chr1:161170406 [GRCh38]
Chr1:161140196 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.322C>G (p.Leu108Val) single nucleotide variant not provided [RCV003061378] Chr1:161167470 [GRCh38]
Chr1:161137260 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_003779.4(B4GALT3):c.119G>A (p.Arg40Gln) single nucleotide variant Inborn genetic diseases [RCV002669984] Chr1:161175942 [GRCh38]
Chr1:161145732 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.747C>G (p.Val249=) single nucleotide variant not provided [RCV002962396] Chr1:161169123 [GRCh38]
Chr1:161138913 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.916_917del (p.Leu306fs) deletion not provided [RCV002648214] Chr1:161169953..161169954 [GRCh38]
Chr1:161139743..161139744 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.1287del (p.Lys429fs) deletion not provided [RCV002648215] Chr1:161170941 [GRCh38]
Chr1:161140731 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic
NM_001122764.3(PPOX):c.278C>T (p.Ala93Val) single nucleotide variant Inborn genetic diseases [RCV002748212] Chr1:161167426 [GRCh38]
Chr1:161137216 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.82C>G (p.Pro28Ala) single nucleotide variant Inborn genetic diseases [RCV002674810]|not provided [RCV003778559] Chr1:161166929 [GRCh38]
Chr1:161136719 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_003779.4(B4GALT3):c.202C>T (p.Pro68Ser) single nucleotide variant Inborn genetic diseases [RCV002935234] Chr1:161175859 [GRCh38]
Chr1:161145649 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1259C>G (p.Pro420Arg) single nucleotide variant Inborn genetic diseases [RCV002856046] Chr1:161170917 [GRCh38]
Chr1:161140707 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.218T>C (p.Leu73Pro) single nucleotide variant not provided [RCV002634319] Chr1:161167230 [GRCh38]
Chr1:161137020 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.157A>G (p.Ile53Val) single nucleotide variant not provided [RCV003052228] Chr1:161167169 [GRCh38]
Chr1:161136959 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.-9G>A single nucleotide variant not provided [RCV002634318] Chr1:161166672 [GRCh38]
Chr1:161136462 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_001122764.3(PPOX):c.455G>A (p.Arg152His) single nucleotide variant Inborn genetic diseases [RCV002587420]|not provided [RCV002587421] Chr1:161168111 [GRCh38]
Chr1:161137901 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.427G>A (p.Asp143Asn) single nucleotide variant not provided [RCV003219054] Chr1:161168083 [GRCh38]
Chr1:161137873 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.79C>G (p.Pro27Ala) single nucleotide variant Inborn genetic diseases [RCV003282239] Chr1:161166926 [GRCh38]
Chr1:161136716 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_003779.4(B4GALT3):c.1076C>G (p.Pro359Arg) single nucleotide variant Inborn genetic diseases [RCV003188299] Chr1:161171922 [GRCh38]
Chr1:161141712 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1217T>C (p.Met406Thr) single nucleotide variant Inborn genetic diseases [RCV003215953] Chr1:161170738 [GRCh38]
Chr1:161140528 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.420del (p.Glu141fs) deletion Variegate porphyria [RCV003226010] Chr1:161168074 [GRCh38]
Chr1:161137864 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.808G>T (p.Val270Leu) single nucleotide variant Variegate porphyria, childhood-onset [RCV003324656] Chr1:161169660 [GRCh38]
Chr1:161139450 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.506G>A (p.Gly169Glu) single nucleotide variant Variegate porphyria, childhood-onset [RCV003324652] Chr1:161168466 [GRCh38]
Chr1:161138256 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.1043A>G (p.Tyr348Cys) single nucleotide variant Variegate porphyria, childhood-onset [RCV003324654] Chr1:161170464 [GRCh38]
Chr1:161140254 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.413G>C (p.Arg138Pro) single nucleotide variant Variegate porphyria, childhood-onset [RCV003324655] Chr1:161168069 [GRCh38]
Chr1:161137859 [GRCh37]
Chr1:1q23.3
pathogenic
G358R variation Variegate porphyria, childhood-onset [RCV003324653]   pathogenic
NM_001122764.3(PPOX):c.571G>T (p.Glu191Ter) single nucleotide variant See cases [RCV003334422] Chr1:161168531 [GRCh38]
Chr1:161138321 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_003779.4(B4GALT3):c.400C>T (p.Arg134Trp) single nucleotide variant Inborn genetic diseases [RCV003364310] Chr1:161175082 [GRCh38]
Chr1:161144872 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_003779.4(B4GALT3):c.841A>G (p.Thr281Ala) single nucleotide variant Inborn genetic diseases [RCV003369274] Chr1:161172294 [GRCh38]
Chr1:161142084 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_003779.4(B4GALT3):c.1019C>T (p.Ala340Val) single nucleotide variant Inborn genetic diseases [RCV003383711] Chr1:161171979 [GRCh38]
Chr1:161141769 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_003779.4(B4GALT3):c.416G>A (p.Arg139His) single nucleotide variant Inborn genetic diseases [RCV003369678] Chr1:161175066 [GRCh38]
Chr1:161144856 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1160A>G (p.Glu387Gly) single nucleotide variant not provided [RCV003570990] Chr1:161170681 [GRCh38]
Chr1:161140471 [GRCh37]
Chr1:1q23.3
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_001122764.3(PPOX):c.688C>T (p.Arg230Cys) single nucleotide variant Variegate porphyria [RCV003448590] Chr1:161169064 [GRCh38]
Chr1:161138854 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.245C>T (p.Ser82Leu) single nucleotide variant not provided [RCV003443804] Chr1:161167393 [GRCh38]
Chr1:161137183 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1047C>T (p.Asp349=) single nucleotide variant not specified [RCV003405008] Chr1:161170468 [GRCh38]
Chr1:161140258 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.361C>G (p.Pro121Ala) single nucleotide variant not provided [RCV003574207] Chr1:161168017 [GRCh38]
Chr1:161137807 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.97G>T (p.Val33Leu) single nucleotide variant not provided [RCV003716170] Chr1:161167109 [GRCh38]
Chr1:161136899 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.616+15A>G single nucleotide variant not provided [RCV003829756] Chr1:161168591 [GRCh38]
Chr1:161138381 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.1097C>T (p.Thr366Ile) single nucleotide variant not provided [RCV003696410] Chr1:161170518 [GRCh38]
Chr1:161140308 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.134C>A (p.Ser45Tyr) single nucleotide variant not provided [RCV003574473] Chr1:161167146 [GRCh38]
Chr1:161136936 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1014AGA[1] (p.Glu339del) microsatellite not provided [RCV003695775] Chr1:161170435..161170437 [GRCh38]
Chr1:161140225..161140227 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1316C>G (p.Ala439Gly) single nucleotide variant not provided [RCV003578523] Chr1:161171058 [GRCh38]
Chr1:161140848 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.213C>A (p.Thr71=) single nucleotide variant not provided [RCV003879780] Chr1:161167225 [GRCh38]
Chr1:161137015 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.1325T>A (p.Leu442Ter) single nucleotide variant not provided [RCV003827596] Chr1:161171067 [GRCh38]
Chr1:161140857 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.668G>A (p.Arg223His) single nucleotide variant not provided [RCV003726659] Chr1:161169044 [GRCh38]
Chr1:161138834 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.809T>C (p.Val270Ala) single nucleotide variant not provided [RCV003852610] Chr1:161169661 [GRCh38]
Chr1:161139451 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.82C>A (p.Pro28Thr) single nucleotide variant not provided [RCV003725697] Chr1:161166929 [GRCh38]
Chr1:161136719 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.441C>G (p.His147Gln) single nucleotide variant not provided [RCV003673919] Chr1:161168097 [GRCh38]
Chr1:161137887 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1243C>T (p.His415Tyr) single nucleotide variant not provided [RCV003836891] Chr1:161170764 [GRCh38]
Chr1:161140554 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.807+13C>G single nucleotide variant not provided [RCV003844001] Chr1:161169196 [GRCh38]
Chr1:161138986 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.1353T>C (p.Tyr451=) single nucleotide variant not provided [RCV003682337] Chr1:161171095 [GRCh38]
Chr1:161140885 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.88-18_88-15del microsatellite not provided [RCV003566825] Chr1:161167080..161167083 [GRCh38]
Chr1:161136870..161136873 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1289dup (p.Glu431fs) duplication not provided [RCV003562300] Chr1:161170946..161170947 [GRCh38]
Chr1:161140736..161140737 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001122764.3(PPOX):c.1330_1331del (p.Leu444fs) deletion not provided [RCV003562301] Chr1:161171072..161171073 [GRCh38]
Chr1:161140862..161140863 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_001122764.3(PPOX):c.987+6A>T single nucleotide variant not provided [RCV003710889] Chr1:161170030 [GRCh38]
Chr1:161139820 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1070A>C (p.Asp357Ala) single nucleotide variant not provided [RCV003551593] Chr1:161170491 [GRCh38]
Chr1:161140281 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1071C>T (p.Asp357=) single nucleotide variant not provided [RCV003566152] Chr1:161170492 [GRCh38]
Chr1:161140282 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.1065G>C (p.Glu355Asp) single nucleotide variant not provided [RCV003551247] Chr1:161170486 [GRCh38]
Chr1:161140276 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.684A>G (p.Ser228=) single nucleotide variant not provided [RCV003721868] Chr1:161169060 [GRCh38]
Chr1:161138850 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.910C>T (p.Arg304Cys) single nucleotide variant not provided [RCV003869705] Chr1:161169947 [GRCh38]
Chr1:161139737 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.251T>G (p.Val84Gly) single nucleotide variant not provided [RCV003562299] Chr1:161167399 [GRCh38]
Chr1:161137189 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.972C>T (p.Ala324=) single nucleotide variant not provided [RCV003551850] Chr1:161170009 [GRCh38]
Chr1:161139799 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.800G>A (p.Arg267His) single nucleotide variant not provided [RCV003847940] Chr1:161169176 [GRCh38]
Chr1:161138966 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.667C>T (p.Arg223Cys) single nucleotide variant not provided [RCV003728865] Chr1:161169043 [GRCh38]
Chr1:161138833 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.366C>T (p.Phe122=) single nucleotide variant not provided [RCV003710716] Chr1:161168022 [GRCh38]
Chr1:161137812 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.168T>C (p.Leu56=) single nucleotide variant not provided [RCV003820832] Chr1:161167180 [GRCh38]
Chr1:161136970 [GRCh37]
Chr1:1q23.3
likely benign
NM_001122764.3(PPOX):c.1281G>C (p.Trp427Cys) single nucleotide variant not provided [RCV003680445] Chr1:161170939 [GRCh38]
Chr1:161140729 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.1390C>T (p.Arg464Cys) single nucleotide variant not provided [RCV003857248] Chr1:161171132 [GRCh38]
Chr1:161140922 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_001122764.3(PPOX):c.182T>A (p.Ile61Asn) single nucleotide variant PPOX-related condition [RCV003896266] Chr1:161167194 [GRCh38]
Chr1:161136984 [GRCh37]
Chr1:1q23.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4729
Count of miRNA genes:1033
Interacting mature miRNAs:1305
Transcripts:ENST00000352210, ENST00000367999, ENST00000432542, ENST00000460611, ENST00000462866, ENST00000462977, ENST00000466452, ENST00000468968, ENST00000470607, ENST00000479246, ENST00000490768, ENST00000494216, ENST00000495483, ENST00000497522, ENST00000535223, ENST00000537523, ENST00000537829, ENST00000539753, ENST00000541818, ENST00000544598
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.

Markers in Region
NIB1690  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,135,195 - 161,135,371UniSTSGRCh37
Build 361159,401,819 - 159,401,995RGDNCBI36
Celera1134,202,348 - 134,202,524RGD
Cytogenetic Map1q22UniSTS
HuRef1132,492,137 - 132,492,313UniSTS
Whitehead-YAC Contig Map1 UniSTS
RH8143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,135,270 - 161,135,446UniSTSGRCh37
Build 361159,401,894 - 159,402,070RGDNCBI36
Celera1134,202,423 - 134,202,599RGD
Cytogenetic Map1q22UniSTS
HuRef1132,492,212 - 132,492,388UniSTS
G43283  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,135,348 - 161,135,497UniSTSGRCh37
Build 361159,401,972 - 159,402,121RGDNCBI36
Celera1134,202,501 - 134,202,650RGD
Cytogenetic Map1q22UniSTS
HuRef1132,492,290 - 132,492,439UniSTS
Ppox  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,140,539 - 161,140,889UniSTSGRCh37
Build 361159,407,163 - 159,407,513RGDNCBI36
Celera1134,207,692 - 134,208,042RGD
HuRef1132,497,481 - 132,497,831UniSTS
A001T06  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,141,246 - 161,141,423UniSTSGRCh37
Build 361159,407,870 - 159,408,047RGDNCBI36
Celera1134,208,399 - 134,208,576RGD
Cytogenetic Map1q22UniSTS
Cytogenetic Map1q21-q23UniSTS
HuRef1132,498,188 - 132,498,365UniSTS
GeneMap99-GB4 RH Map1587.05UniSTS
NCBI RH Map11441.4UniSTS
RH15837  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,135,238 - 161,135,416UniSTSGRCh37
Build 361159,401,862 - 159,402,040RGDNCBI36
Celera1134,202,391 - 134,202,569RGD
Cytogenetic Map1q22UniSTS
HuRef1132,492,180 - 132,492,358UniSTS
GeneMap99-GB4 RH Map1591.27UniSTS
RH11845  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,141,149 - 161,141,274UniSTSGRCh37
Build 361159,407,773 - 159,407,898RGDNCBI36
Celera1134,208,302 - 134,208,427RGD
Cytogenetic Map1q22UniSTS
Cytogenetic Map1q21-q23UniSTS
HuRef1132,498,091 - 132,498,216UniSTS
GeneMap99-GB4 RH Map1588.67UniSTS
NCBI RH Map11441.4UniSTS
RH71218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371161,140,834 - 161,140,988UniSTSGRCh37
Build 361159,407,458 - 159,407,612RGDNCBI36
Celera1134,207,987 - 134,208,141RGD
Cytogenetic Map1q22UniSTS
Cytogenetic Map1q21-q23UniSTS
HuRef1132,497,776 - 132,497,930UniSTS
GeneMap99-GB4 RH Map1589.92UniSTS
D1S3696  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map17q21-q24UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map12q24.33UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2046 1693 1315 238 1129 93 3445 968 2845 237 1327 1397 152 1 1080 1983 2
Low 393 1298 411 386 822 372 912 1229 889 182 133 216 22 124 805 4 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001122764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007061329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_921850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF075457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF215863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF215864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF321821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF321822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF321823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI357309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU076582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX384814 (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
  D38537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA061615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA268550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA745403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC329287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC399187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EL954312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U26446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X99450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000352210   ⟹   ENSP00000343943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,166,410 - 161,171,218 (+)Ensembl
RefSeq Acc Id: ENST00000367999   ⟹   ENSP00000356978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,166,426 - 161,171,220 (+)Ensembl
RefSeq Acc Id: ENST00000460611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,168,395 - 161,169,985 (+)Ensembl
RefSeq Acc Id: ENST00000462866   ⟹   ENSP00000491797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,166,840 - 161,171,218 (+)Ensembl
RefSeq Acc Id: ENST00000462977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,168,260 - 161,169,840 (+)Ensembl
RefSeq Acc Id: ENST00000466452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,170,261 - 161,171,181 (+)Ensembl
RefSeq Acc Id: ENST00000468968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,166,482 - 161,168,127 (+)Ensembl
RefSeq Acc Id: ENST00000470607   ⟹   ENSP00000492580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,166,439 - 161,169,720 (+)Ensembl
RefSeq Acc Id: ENST00000479246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,166,439 - 161,168,545 (+)Ensembl
RefSeq Acc Id: ENST00000490768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,166,678 - 161,168,406 (+)Ensembl
RefSeq Acc Id: ENST00000494216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,168,095 - 161,169,706 (+)Ensembl
RefSeq Acc Id: ENST00000495483   ⟹   ENSP00000490967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,166,480 - 161,178,013 (+)Ensembl
RefSeq Acc Id: ENST00000497522   ⟹   ENSP00000491230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,166,430 - 161,177,041 (+)Ensembl
RefSeq Acc Id: ENST00000535223   ⟹   ENSP00000443769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,166,498 - 161,177,092 (+)Ensembl
RefSeq Acc Id: ENST00000537523   ⟹   ENSP00000439544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,168,523 - 161,171,218 (+)Ensembl
RefSeq Acc Id: ENST00000537829   ⟹   ENSP00000438136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,169,685 - 161,171,218 (+)Ensembl
RefSeq Acc Id: ENST00000539753   ⟹   ENSP00000439613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,166,452 - 161,170,949 (+)Ensembl
RefSeq Acc Id: ENST00000541818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,169,284 - 161,171,181 (+)Ensembl
RefSeq Acc Id: ENST00000544598   ⟹   ENSP00000444216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,166,470 - 161,171,220 (+)Ensembl
RefSeq Acc Id: ENST00000650741   ⟹   ENSP00000499106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,167,121 - 161,171,115 (+)Ensembl
RefSeq Acc Id: ENST00000651150   ⟹   ENSP00000498615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,166,447 - 161,171,143 (+)Ensembl
RefSeq Acc Id: ENST00000652100   ⟹   ENSP00000498462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,169,673 - 161,171,160 (+)Ensembl
RefSeq Acc Id: ENST00000652103   ⟹   ENSP00000498501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,166,895 - 161,171,214 (+)Ensembl
RefSeq Acc Id: ENST00000652182   ⟹   ENSP00000498884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,166,462 - 161,171,160 (+)Ensembl
RefSeq Acc Id: ENST00000652297   ⟹   ENSP00000498871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,167,380 - 161,171,062 (+)Ensembl
RefSeq Acc Id: ENST00000652473   ⟹   ENSP00000498477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,166,467 - 161,171,176 (+)Ensembl
RefSeq Acc Id: ENST00000652729   ⟹   ENSP00000498609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1161,166,056 - 161,168,095 (+)Ensembl
RefSeq Acc Id: NM_000309   ⟹   NP_000300
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,166,426 - 161,171,220 (+)NCBI
GRCh371161,135,832 - 161,148,136 (+)NCBI
Build 361159,402,818 - 159,407,634 (+)NCBI Archive
HuRef1132,493,123 - 132,497,952 (+)ENTREZGENE
CHM1_11162,532,431 - 162,537,260 (+)NCBI
T2T-CHM13v2.01160,303,883 - 160,308,676 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001122764   ⟹   NP_001116236
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,166,426 - 161,171,220 (+)NCBI
GRCh371161,135,832 - 161,148,136 (+)NCBI
HuRef1132,493,123 - 132,497,952 (+)ENTREZGENE
CHM1_11162,532,431 - 162,537,260 (+)NCBI
T2T-CHM13v2.01160,303,883 - 160,308,676 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350128   ⟹   NP_001337057
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,166,426 - 161,171,220 (+)NCBI
T2T-CHM13v2.01160,303,883 - 160,308,676 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350129   ⟹   NP_001337058
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,166,426 - 161,171,220 (+)NCBI
T2T-CHM13v2.01160,303,883 - 160,308,676 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350130   ⟹   NP_001337059
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,166,426 - 161,171,220 (+)NCBI
T2T-CHM13v2.01160,303,883 - 160,308,676 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001350131   ⟹   NP_001337060
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,166,426 - 161,171,220 (+)NCBI
T2T-CHM13v2.01160,303,883 - 160,308,676 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001365398   ⟹   NP_001352327
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,166,646 - 161,171,220 (+)NCBI
T2T-CHM13v2.01160,304,103 - 160,308,676 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001365399   ⟹   NP_001352328
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,166,426 - 161,171,220 (+)NCBI
T2T-CHM13v2.01160,303,883 - 160,308,676 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001365400   ⟹   NP_001352329
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,166,426 - 161,171,220 (+)NCBI
T2T-CHM13v2.01160,303,883 - 160,308,676 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001365401   ⟹   NP_001352330
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,166,426 - 161,171,220 (+)NCBI
T2T-CHM13v2.01160,303,883 - 160,308,676 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005245291   ⟹   XP_005245348
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,166,426 - 161,178,013 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005245295   ⟹   XP_005245352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,167,131 - 161,178,013 (+)NCBI
GRCh371161,135,832 - 161,148,136 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006711404   ⟹   XP_006711467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,166,154 - 161,171,220 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509663   ⟹   XP_011507965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,165,855 - 161,178,013 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509664   ⟹   XP_011507966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,165,856 - 161,178,013 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509665   ⟹   XP_011507967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,165,856 - 161,178,013 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509667   ⟹   XP_011507969
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,166,426 - 161,178,013 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509668   ⟹   XP_011507970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,166,646 - 161,178,013 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509670   ⟹   XP_011507972
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,165,852 - 161,178,013 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509671   ⟹   XP_011507973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,165,866 - 161,171,220 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509672   ⟹   XP_011507974
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,166,152 - 161,171,220 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509673   ⟹   XP_011507975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,165,853 - 161,178,013 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509674   ⟹   XP_011507976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,165,848 - 161,178,013 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509678   ⟹   XP_011507980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,167,144 - 161,178,013 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001566   ⟹   XP_016857055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,167,144 - 161,171,220 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447864   ⟹   XP_024303632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,166,154 - 161,171,220 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047423569   ⟹   XP_047279525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,165,858 - 161,178,013 (+)NCBI
RefSeq Acc Id: XM_047423581   ⟹   XP_047279537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,165,728 - 161,178,013 (+)NCBI
RefSeq Acc Id: XM_047423592   ⟹   XP_047279548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,167,586 - 161,178,013 (+)NCBI
RefSeq Acc Id: XM_047423604   ⟹   XP_047279560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,167,158 - 161,178,013 (+)NCBI
RefSeq Acc Id: XM_054337269   ⟹   XP_054193244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,303,312 - 160,315,472 (+)NCBI
RefSeq Acc Id: XM_054337270   ⟹   XP_054193245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,303,313 - 160,315,472 (+)NCBI
RefSeq Acc Id: XM_054337271   ⟹   XP_054193246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,303,313 - 160,315,472 (+)NCBI
RefSeq Acc Id: XM_054337272   ⟹   XP_054193247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,303,315 - 160,315,472 (+)NCBI
RefSeq Acc Id: XM_054337273   ⟹   XP_054193248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,303,883 - 160,315,472 (+)NCBI
RefSeq Acc Id: XM_054337274   ⟹   XP_054193249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,304,103 - 160,315,472 (+)NCBI
RefSeq Acc Id: XM_054337275   ⟹   XP_054193250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,303,185 - 160,315,472 (+)NCBI
RefSeq Acc Id: XM_054337276   ⟹   XP_054193251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,303,309 - 160,315,736 (+)NCBI
RefSeq Acc Id: XM_054337277   ⟹   XP_054193252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,303,883 - 160,315,472 (+)NCBI
RefSeq Acc Id: XM_054337278   ⟹   XP_054193253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,303,611 - 160,308,676 (+)NCBI
RefSeq Acc Id: XM_054337279   ⟹   XP_054193254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,303,323 - 160,308,676 (+)NCBI
RefSeq Acc Id: XM_054337280   ⟹   XP_054193255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,303,609 - 160,308,676 (+)NCBI
RefSeq Acc Id: XM_054337281   ⟹   XP_054193256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,303,310 - 160,315,472 (+)NCBI
RefSeq Acc Id: XM_054337282   ⟹   XP_054193257
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,303,305 - 160,315,736 (+)NCBI
RefSeq Acc Id: XM_054337283   ⟹   XP_054193258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,304,601 - 160,315,472 (+)NCBI
RefSeq Acc Id: XM_054337284   ⟹   XP_054193259
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,303,611 - 160,308,676 (+)NCBI
RefSeq Acc Id: XM_054337285   ⟹   XP_054193260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,304,601 - 160,308,676 (+)NCBI
RefSeq Acc Id: XM_054337286   ⟹   XP_054193261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,304,601 - 160,315,472 (+)NCBI
RefSeq Acc Id: XM_054337287   ⟹   XP_054193262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,304,601 - 160,315,472 (+)NCBI
RefSeq Acc Id: XM_054337288   ⟹   XP_054193263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,304,588 - 160,315,472 (+)NCBI
RefSeq Acc Id: XM_054337289   ⟹   XP_054193264
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,304,601 - 160,308,676 (+)NCBI
RefSeq Acc Id: XM_054337290   ⟹   XP_054193265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,304,615 - 160,315,736 (+)NCBI
RefSeq Acc Id: XR_007061329
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,165,857 - 161,170,731 (+)NCBI
RefSeq Acc Id: XR_008486082
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01160,303,314 - 160,308,187 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000300 (Get FASTA)   NCBI Sequence Viewer  
  NP_001116236 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337057 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337058 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337059 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337060 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352327 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352328 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352329 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352330 (Get FASTA)   NCBI Sequence Viewer  
  XP_005245348 (Get FASTA)   NCBI Sequence Viewer  
  XP_005245352 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711467 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507965 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507966 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507967 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507969 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507970 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507972 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507973 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507974 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507975 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507976 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507980 (Get FASTA)   NCBI Sequence Viewer  
  XP_016857055 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303632 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279525 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279537 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279548 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279560 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193244 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193245 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193246 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193247 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193248 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193249 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193250 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193251 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193252 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193253 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193254 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193255 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193256 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193257 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193258 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193259 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193260 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193261 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193262 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193263 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193264 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193265 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA67690 (Get FASTA)   NCBI Sequence Viewer  
  AAC95467 (Get FASTA)   NCBI Sequence Viewer  
  AAG43994 (Get FASTA)   NCBI Sequence Viewer  
  AAG43995 (Get FASTA)   NCBI Sequence Viewer  
  AAH02357 (Get FASTA)   NCBI Sequence Viewer  
  AAK50375 (Get FASTA)   NCBI Sequence Viewer  
  AAK50376 (Get FASTA)   NCBI Sequence Viewer  
  AAK69607 (Get FASTA)   NCBI Sequence Viewer  
  AAK69608 (Get FASTA)   NCBI Sequence Viewer  
  AAK69609 (Get FASTA)   NCBI Sequence Viewer  
  BAA07538 (Get FASTA)   NCBI Sequence Viewer  
  BAG52942 (Get FASTA)   NCBI Sequence Viewer  
  BAG61019 (Get FASTA)   NCBI Sequence Viewer  
  BAG63638 (Get FASTA)   NCBI Sequence Viewer  
  EAW52635 (Get FASTA)   NCBI Sequence Viewer  
  EAW52636 (Get FASTA)   NCBI Sequence Viewer  
  EAW52637 (Get FASTA)   NCBI Sequence Viewer  
  EAW52638 (Get FASTA)   NCBI Sequence Viewer  
  EAW52639 (Get FASTA)   NCBI Sequence Viewer  
  EAW52640 (Get FASTA)   NCBI Sequence Viewer  
  EAW52641 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000343943
  ENSP00000343943.5
  ENSP00000356978
  ENSP00000356978.4
  ENSP00000438136.1
  ENSP00000439544.1
  ENSP00000439613.1
  ENSP00000443769.1
  ENSP00000444216.1
  ENSP00000490967.1
  ENSP00000491230.1
  ENSP00000491797.1
  ENSP00000492580.1
  ENSP00000498462.1
  ENSP00000498477.1
  ENSP00000498501
  ENSP00000498501.1
  ENSP00000498609.1
  ENSP00000498615.1
  ENSP00000498871.1
  ENSP00000498884
  ENSP00000498884.1
  ENSP00000499106.1
GenBank Protein P50336 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001116236   ⟸   NM_001122764
- Peptide Label: isoform 1
- UniProtKB: D3DVG0 (UniProtKB/Swiss-Prot),   Q5VTW8 (UniProtKB/Swiss-Prot),   P50336 (UniProtKB/Swiss-Prot),   A0A494C146 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000300   ⟸   NM_000309
- Peptide Label: isoform 1
- UniProtKB: D3DVG0 (UniProtKB/Swiss-Prot),   Q5VTW8 (UniProtKB/Swiss-Prot),   P50336 (UniProtKB/Swiss-Prot),   A0A494C146 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005245348   ⟸   XM_005245291
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_005245352   ⟸   XM_005245295
- Peptide Label: isoform X14
- UniProtKB: B3KT30 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006711467   ⟸   XM_006711404
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011507976   ⟸   XM_011509674
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_011507972   ⟸   XM_011509670
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011507975   ⟸   XM_011509673
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_011507965   ⟸   XM_011509663
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011507966   ⟸   XM_011509664
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011507973   ⟸   XM_011509671
- Peptide Label: isoform X9
- UniProtKB: A0A494C146 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011507967   ⟸   XM_011509665
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011507974   ⟸   XM_011509672
- Peptide Label: isoform X10
- UniProtKB: B4DY76 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011507969   ⟸   XM_011509667
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011507980   ⟸   XM_011509678
- Peptide Label: isoform X14
- UniProtKB: B3KT30 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011507970   ⟸   XM_011509668
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016857055   ⟸   XM_017001566
- Peptide Label: isoform X15
- UniProtKB: A0A494C0D4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303632   ⟸   XM_024447864
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: NP_001337059   ⟸   NM_001350130
- Peptide Label: isoform 4
- UniProtKB: A0A494C0D4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337057   ⟸   NM_001350128
- Peptide Label: isoform 2
- UniProtKB: B4DY76 (UniProtKB/TrEMBL),   A0A494C0D4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337058   ⟸   NM_001350129
- Peptide Label: isoform 3
- UniProtKB: A0A494C0D4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337060   ⟸   NM_001350131
- Peptide Label: isoform 4
- UniProtKB: A0A494C0D4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001352328   ⟸   NM_001365399
- Peptide Label: isoform 5
- UniProtKB: A0A494C146 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001352329   ⟸   NM_001365400
- Peptide Label: isoform 3
- UniProtKB: A0A494C0D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001352330   ⟸   NM_001365401
- Peptide Label: isoform 4
- UniProtKB: A0A494C0D4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001352327   ⟸   NM_001365398
- Peptide Label: isoform 1
- UniProtKB: P50336 (UniProtKB/Swiss-Prot),   D3DVG0 (UniProtKB/Swiss-Prot),   Q5VTW8 (UniProtKB/Swiss-Prot),   A0A494C146 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000491797   ⟸   ENST00000462866
RefSeq Acc Id: ENSP00000444216   ⟸   ENST00000544598
RefSeq Acc Id: ENSP00000499106   ⟸   ENST00000650741
RefSeq Acc Id: ENSP00000498615   ⟸   ENST00000651150
RefSeq Acc Id: ENSP00000498871   ⟸   ENST00000652297
RefSeq Acc Id: ENSP00000498501   ⟸   ENST00000652103
RefSeq Acc Id: ENSP00000498462   ⟸   ENST00000652100
RefSeq Acc Id: ENSP00000498884   ⟸   ENST00000652182
RefSeq Acc Id: ENSP00000498609   ⟸   ENST00000652729
RefSeq Acc Id: ENSP00000490967   ⟸   ENST00000495483
RefSeq Acc Id: ENSP00000498477   ⟸   ENST00000652473
RefSeq Acc Id: ENSP00000443769   ⟸   ENST00000535223
RefSeq Acc Id: ENSP00000491230   ⟸   ENST00000497522
RefSeq Acc Id: ENSP00000438136   ⟸   ENST00000537829
RefSeq Acc Id: ENSP00000439544   ⟸   ENST00000537523
RefSeq Acc Id: ENSP00000492580   ⟸   ENST00000470607
RefSeq Acc Id: ENSP00000343943   ⟸   ENST00000352210
RefSeq Acc Id: ENSP00000356978   ⟸   ENST00000367999
RefSeq Acc Id: ENSP00000439613   ⟸   ENST00000539753
RefSeq Acc Id: XP_047279537   ⟸   XM_047423581
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047279525   ⟸   XM_047423569
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047279560   ⟸   XM_047423604
- Peptide Label: isoform X16
RefSeq Acc Id: XP_047279548   ⟸   XM_047423592
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054193250   ⟸   XM_054337275
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054193257   ⟸   XM_054337282
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054193251   ⟸   XM_054337276
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054193256   ⟸   XM_054337281
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054193244   ⟸   XM_054337269
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054193246   ⟸   XM_054337271
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054193245   ⟸   XM_054337270
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054193247   ⟸   XM_054337272
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054193254   ⟸   XM_054337279
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054193255   ⟸   XM_054337280
- Peptide Label: isoform X10
- UniProtKB: B4DY76 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054193253   ⟸   XM_054337278
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054193259   ⟸   XM_054337284
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054193248   ⟸   XM_054337273
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054193252   ⟸   XM_054337277
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054193249   ⟸   XM_054337274
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054193263   ⟸   XM_054337288
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054193261   ⟸   XM_054337286
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054193258   ⟸   XM_054337283
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054193262   ⟸   XM_054337287
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054193260   ⟸   XM_054337285
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054193264   ⟸   XM_054337289
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054193265   ⟸   XM_054337290
- Peptide Label: isoform X16
Protein Domains
Amine oxidase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P50336-F1-model_v2 AlphaFold P50336 1-477 view protein structure

Promoters
RGD ID:6786294
Promoter ID:HG_KWN:5824
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_000309,   NM_001122764,   OTTHUMT00000082995,   OTTHUMT00000082996,   OTTHUMT00000082997,   OTTHUMT00000082998,   OTTHUMT00000082999,   OTTHUMT00000083000,   OTTHUMT00000083001,   OTTHUMT00000083003,   OTTHUMT00000083007,   UC001FYH.2,   UC001FYI.2,   UC001FYK.2,   UC001FYL.2,   UC001FYM.2,   UC001FYN.2,   UC009WUC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361159,402,381 - 159,402,897 (+)MPROMDB
RGD ID:6786293
Promoter ID:HG_KWN:5826
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000083008,   OTTHUMT00000083010,   OTTHUMT00000083011
Position:
Human AssemblyChrPosition (strand)Source
Build 361159,405,526 - 159,407,142 (+)MPROMDB
RGD ID:6857862
Promoter ID:EPDNEW_H2096
Type:initiation region
Name:PPOX_1
Description:protoporphyrinogen oxidase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2097  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,166,482 - 161,166,542EPDNEW
RGD ID:6857864
Promoter ID:EPDNEW_H2097
Type:initiation region
Name:PPOX_2
Description:protoporphyrinogen oxidase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2096  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381161,166,646 - 161,166,706EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9280 AgrOrtholog
COSMIC PPOX COSMIC
Ensembl Genes ENSG00000143224 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000352210 ENTREZGENE
  ENST00000352210.9 UniProtKB/Swiss-Prot
  ENST00000367999 ENTREZGENE
  ENST00000367999.9 UniProtKB/Swiss-Prot
  ENST00000462866.5 UniProtKB/TrEMBL
  ENST00000470607.5 UniProtKB/TrEMBL
  ENST00000495483.5 UniProtKB/TrEMBL
  ENST00000497522.5 UniProtKB/TrEMBL
  ENST00000535223.5 UniProtKB/TrEMBL
  ENST00000537523.5 UniProtKB/TrEMBL
  ENST00000537829.1 UniProtKB/TrEMBL
  ENST00000539753.5 UniProtKB/TrEMBL
  ENST00000544598.5 UniProtKB/TrEMBL
  ENST00000650741.1 UniProtKB/TrEMBL
  ENST00000651150.1 UniProtKB/TrEMBL
  ENST00000652100.1 UniProtKB/TrEMBL
  ENST00000652103 ENTREZGENE
  ENST00000652103.1 UniProtKB/TrEMBL
  ENST00000652182 ENTREZGENE
  ENST00000652182.1 UniProtKB/TrEMBL
  ENST00000652297.1 UniProtKB/TrEMBL
  ENST00000652473.1 UniProtKB/TrEMBL
  ENST00000652729.1 UniProtKB/TrEMBL
Gene3D-CATH 3.50.50.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000143224 GTEx
HGNC ID HGNC:9280 ENTREZGENE
Human Proteome Map PPOX Human Proteome Map
InterPro Amino_oxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD/NAD-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protoporphyrinogen_oxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5498 UniProtKB/Swiss-Prot
NCBI Gene 5498 ENTREZGENE
OMIM 600923 OMIM
PANTHER PROTOPORPHYRINOGEN OXIDASE UniProtKB/Swiss-Prot
  PROTOPORPHYRINOGEN OXIDASE UniProtKB/Swiss-Prot
  PROTOPORPHYRINOGEN OXIDASE UniProtKB/TrEMBL
  PROTOPORPHYRINOGEN OXIDASE UniProtKB/TrEMBL
Pfam Amino_oxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33608 PharmGKB
Superfamily-SCOP FAD-linked reductases, C-terminal domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51905 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1W2PNH4_HUMAN UniProtKB/TrEMBL
  A0A1W2PPA5_HUMAN UniProtKB/TrEMBL
  A0A1W2PQM0_HUMAN UniProtKB/TrEMBL
  A0A1W2PRF9_HUMAN UniProtKB/TrEMBL
  A0A494C0C8_HUMAN UniProtKB/TrEMBL
  A0A494C0D4 ENTREZGENE, UniProtKB/TrEMBL
  A0A494C0L4_HUMAN UniProtKB/TrEMBL
  A0A494C0M9_HUMAN UniProtKB/TrEMBL
  A0A494C134_HUMAN UniProtKB/TrEMBL
  A0A494C146 ENTREZGENE, UniProtKB/TrEMBL
  A0A494C1M8_HUMAN UniProtKB/TrEMBL
  B3KT30 ENTREZGENE, UniProtKB/TrEMBL
  B4DY76 ENTREZGENE, UniProtKB/TrEMBL
  D3DVG0 ENTREZGENE
  D3DVG2_HUMAN UniProtKB/TrEMBL
  F5GZT7_HUMAN UniProtKB/TrEMBL
  F5H1I5_HUMAN UniProtKB/TrEMBL
  F5H825_HUMAN UniProtKB/TrEMBL
  H0YFE1_HUMAN UniProtKB/TrEMBL
  H0YFP3_HUMAN UniProtKB/TrEMBL
  P50336 ENTREZGENE, UniProtKB/Swiss-Prot
  Q5VTW8 ENTREZGENE
  Q96RP0_HUMAN UniProtKB/TrEMBL
  Q96SE3_HUMAN UniProtKB/TrEMBL
  Q96TC9_HUMAN UniProtKB/TrEMBL
UniProt Secondary A0A494C0C0 UniProtKB/TrEMBL
  A0A9K3Y817 UniProtKB/TrEMBL
  D3DVG0 UniProtKB/Swiss-Prot
  Q5VTW8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-16 PPOX  protoporphyrinogen oxidase  VP  variegate porphyria  Data merged from RGD:1349344 737654 PROVISIONAL