NDOR1 (NADPH dependent diflavin oxidoreductase 1) - Rat Genome Database

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Gene: NDOR1 (NADPH dependent diflavin oxidoreductase 1) Homo sapiens
Analyze
Symbol: NDOR1
Name: NADPH dependent diflavin oxidoreductase 1
RGD ID: 1318271
HGNC Page HGNC:29838
Description: Enables several functions, including NADPH-hemoprotein reductase activity; nucleotide binding activity; and oxidoreductase activity, acting on iron-sulfur proteins as donors, NAD or NADP as acceptor. Involved in electron transport chain. Located in cytosol; intermediate filament cytoskeleton; and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bA350O14.9; CIAE1; MGC138148; NADPH dependent FMN and FAD containing oxidoreductase; NADPH-dependent diflavin oxidoreductase 1; NADPH-dependent FMN and FAD containing oxidoreductase; NADPH-dependent FMN and FAD-containing oxidoreductase; Novel reductase 1; NR1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389137,205,700 - 137,219,361 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9137,205,685 - 137,219,361 (+)EnsemblGRCh38hg38GRCh38
GRCh379140,100,152 - 140,113,813 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369139,220,004 - 139,231,282 (+)NCBINCBI36Build 36hg18NCBI36
Build 349137,376,019 - 137,387,297NCBI
Celera9110,614,341 - 110,615,026 (+)NCBICelera
Cytogenetic Map9q34.3NCBI
HuRef9109,559,921 - 109,573,527 (+)NCBIHuRef
CHM1_19140,248,853 - 140,262,545 (+)NCBICHM1_1
T2T-CHM13v2.09149,443,371 - 149,457,030 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Seizure  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery. Maio N and Rouault TA, Biochim Biophys Acta. 2015 Jun;1853(6):1493-512. doi: 10.1016/j.bbamcr.2014.09.009. Epub 2014 Sep 19.
2. Biogenesis of cytosolic and nuclear iron-sulfur proteins and their role in genome stability. Paul VD and Lill R, Biochim Biophys Acta. 2015 Jun;1853(6):1528-39. doi: 10.1016/j.bbamcr.2014.12.018. Epub 2015 Jan 10.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:10625700   PMID:12477932   PMID:12631275   PMID:12871938   PMID:12871939   PMID:15900210   PMID:16140270   PMID:16344560   PMID:18029348   PMID:20802492   PMID:21152063  
PMID:21873635   PMID:22939629   PMID:23596212   PMID:25416956   PMID:26186194   PMID:27519415   PMID:28514442   PMID:28648056   PMID:31515488   PMID:32296183   PMID:33961781   PMID:34373451  
PMID:35748872   PMID:35831314   PMID:36215168   PMID:36949045  


Genomics

Comparative Map Data
NDOR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389137,205,700 - 137,219,361 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9137,205,685 - 137,219,361 (+)EnsemblGRCh38hg38GRCh38
GRCh379140,100,152 - 140,113,813 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369139,220,004 - 139,231,282 (+)NCBINCBI36Build 36hg18NCBI36
Build 349137,376,019 - 137,387,297NCBI
Celera9110,614,341 - 110,615,026 (+)NCBICelera
Cytogenetic Map9q34.3NCBI
HuRef9109,559,921 - 109,573,527 (+)NCBIHuRef
CHM1_19140,248,853 - 140,262,545 (+)NCBICHM1_1
T2T-CHM13v2.09149,443,371 - 149,457,030 (+)NCBIT2T-CHM13v2.0
Ndor1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39225,134,825 - 25,145,458 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl225,134,875 - 25,145,398 (-)EnsemblGRCm39 Ensembl
GRCm39 Ensembl225,134,833 - 25,146,034 (-)EnsemblGRCm39 Ensembl
GRCm39 Ensembl225,134,831 - 25,136,875 (-)EnsemblGRCm39 Ensembl
GRCm38225,244,813 - 25,255,509 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl225,244,819 - 25,246,863 (-)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl225,244,821 - 25,256,022 (-)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl225,244,863 - 25,255,386 (-)EnsemblGRCm38mm10GRCm38
MGSCv37225,100,339 - 25,110,934 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36225,066,828 - 25,077,387 (-)NCBIMGSCv36mm8
Celera224,972,746 - 24,983,340 (-)NCBICelera
Cytogenetic Map2A3NCBI
cM Map217.1NCBI
Ndor1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8328,460,787 - 28,469,018 (-)NCBIGRCr8
mRatBN7.238,062,629 - 8,070,873 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl38,062,630 - 8,070,860 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx311,167,351 - 11,175,571 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0319,753,581 - 19,761,801 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0317,943,424 - 17,951,644 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.032,466,698 - 2,474,928 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl32,466,544 - 2,474,913 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.032,448,115 - 2,456,341 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.433,412,739 - 3,420,959 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.133,413,205 - 3,420,939 (-)NCBI
Celera32,889,188 - 2,897,408 (-)NCBICelera
Cytogenetic Map3p13NCBI
Ndor1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555135,208,151 - 5,216,182 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555135,208,040 - 5,216,618 (+)NCBIChiLan1.0ChiLan1.0
NDOR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2112,180,314 - 2,193,958 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan192,182,647 - 2,196,253 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v09108,265,305 - 108,278,923 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19137,233,940 - 137,247,716 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9137,233,940 - 137,247,716 (+)Ensemblpanpan1.1panPan2
NDOR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1948,456,256 - 48,464,930 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl948,455,260 - 48,464,970 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha947,642,479 - 47,651,156 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0949,317,332 - 49,326,009 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl949,317,352 - 49,326,478 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1948,093,734 - 48,102,409 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0948,392,545 - 48,401,222 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0948,439,704 - 48,448,380 (-)NCBIUU_Cfam_GSD_1.0
Ndor1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947202,588,594 - 202,601,564 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936669773,472 - 782,292 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936669773,494 - 782,286 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NDOR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa10.21314,156,414 - 314,164,176 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NDOR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.112970,256 - 983,893 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl12973,078 - 983,791 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660584,321,782 - 4,335,685 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ndor1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624760737,583 - 746,357 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624760738,110 - 746,417 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NDOR1
45 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000009.11:g.(?_139943109)_(140269288_?)dup duplication Intellectual disability, autosomal dominant 8 [RCV001996989] Chr9:139943109..140269288 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 copy number loss See cases [RCV000050344] Chr9:136323974..138014606 [GRCh38]
Chr9:139218428..140909058 [GRCh37]
Chr9:138338249..140028879 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1 copy number loss See cases [RCV000051116] Chr9:136323974..138124532 [GRCh38]
Chr9:139218428..141018984 [GRCh37]
Chr9:138338249..140138805 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1 copy number loss See cases [RCV000052936] Chr9:134428674..138154922 [GRCh38]
Chr9:137320520..141049374 [GRCh37]
Chr9:136460341..140169195 [NCBI36]
Chr9:9q34.2-34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1 copy number loss See cases [RCV000052937] Chr9:135452016..137613738 [GRCh38]
Chr9:138343862..140508190 [GRCh37]
Chr9:137483683..139628011 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:137092629-137375788)x1 copy number loss See cases [RCV000052887] Chr9:137092629..137375788 [GRCh38]
Chr9:139987081..140270240 [GRCh37]
Chr9:139106902..139390061 [NCBI36]
Chr9:9q34.3		 uncertain significance
GRCh38/hg38 9q34.3(chr9:137215877-137830604)x1 copy number loss See cases [RCV000052951] Chr9:137215877..137830604 [GRCh38]
Chr9:140110329..140725056 [GRCh37]
Chr9:139230150..139844877 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:136015976-138124532)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|See cases [RCV000052938] Chr9:136015976..138124532 [GRCh38]
Chr9:138907822..141018984 [GRCh37]
Chr9:138047643..140138805 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1 copy number loss See cases [RCV000052940] Chr9:136926575..138114463 [GRCh38]
Chr9:139821027..141008915 [GRCh37]
Chr9:138940848..140128736 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1 copy number loss See cases [RCV000052941] Chr9:137215877..138138735 [GRCh38]
Chr9:140110329..141033187 [GRCh37]
Chr9:139230150..140153008 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3 copy number gain See cases [RCV000053814] Chr9:134174698..138138735 [GRCh38]
Chr9:137091194..141033187 [GRCh37]
Chr9:136029641..140153008 [NCBI36]
Chr9:9q34.2-34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
Single allele deletion Epilepsy [RCV001293379] Chr9:139764148..141066491 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 copy number gain See cases [RCV000133778] Chr9:130513207..138124532 [GRCh38]
Chr9:133388594..141018984 [GRCh37]
Chr9:132378415..140138805 [NCBI36]
Chr9:9q34.11-34.3		 pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 copy number gain See cases [RCV000134916] Chr9:129068560..138179445 [GRCh38]
Chr9:131830839..141073897 [GRCh37]
Chr9:130870660..140193718 [NCBI36]
Chr9:9q34.11-34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3 copy number gain See cases [RCV000136790] Chr9:132986903..138114463 [GRCh38]
Chr9:135862290..141008915 [GRCh37]
Chr9:134852111..140128736 [NCBI36]
Chr9:9q34.13-34.3		 pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3 copy number gain See cases [RCV000137825] Chr9:133504071..138159073 [GRCh38]
Chr9:136324358..141053525 [GRCh37]
Chr9:135314179..140173346 [NCBI36]
Chr9:9q34.2-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3 copy number gain See cases [RCV000139807] Chr9:133996227..138124524 [GRCh38]
Chr9:136861349..141018976 [GRCh37]
Chr9:135851170..140138797 [NCBI36]
Chr9:9q34.2-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3 copy number gain See cases [RCV000142955] Chr9:133918071..138159073 [GRCh38]
Chr9:136783193..141053525 [GRCh37]
Chr9:135773014..140173346 [NCBI36]
Chr9:9q34.2-34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1 copy number loss See cases [RCV000142978] Chr9:136877772..138124524 [GRCh38]
Chr9:139772224..141018976 [GRCh37]
Chr9:138892045..140138797 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3 copy number gain See cases [RCV000142636] Chr9:132386553..138059695 [GRCh38]
Chr9:135261940..140954147 [GRCh37]
Chr9:134251761..140073968 [NCBI36]
Chr9:9q34.13-34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:137092629-137270028)x3 copy number gain See cases [RCV000142744] Chr9:137092629..137270028 [GRCh38]
Chr9:139987081..140164480 [GRCh37]
Chr9:139106902..139284301 [NCBI36]
Chr9:9q34.3		 benign
GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4 copy number gain See cases [RCV000143394] Chr9:135704780..138125937 [GRCh38]
Chr9:138596626..141020389 [GRCh37]
Chr9:137736447..140140210 [NCBI36]
Chr9:9q34.3		 likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 copy number loss See cases [RCV000148284] Chr9:136323974..138014606 [GRCh38]
Chr9:139218428..140909058 [GRCh37]
Chr9:138338249..140028879 [NCBI36]
Chr9:9q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:140094273-140167730)x3 copy number gain not provided [RCV000753240] Chr9:140094273..140167730 [GRCh37]
Chr9:9q34.3		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:138222049-141018925)x1 copy number loss See cases [RCV000446074] Chr9:138222049..141018925 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:140043049-141020389)x1 copy number loss See cases [RCV000446191] Chr9:140043049..141020389 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:139282807-141020389)x1 copy number loss See cases [RCV000448743] Chr9:139282807..141020389 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:138209358-141020389)x1 copy number loss See cases [RCV000510584] Chr9:138209358..141020389 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3 copy number gain See cases [RCV000511188] Chr9:138275621..141020389 [GRCh37]
Chr9:9q34.3		 likely pathogenic
NM_014434.4(NDOR1):c.1457G>C (p.Cys486Ser) single nucleotide variant not specified [RCV004323675] Chr9:137215920 [GRCh38]
Chr9:140110372 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1 copy number loss mTOR Inhibitor response [RCV000626442] Chr9:135377559..141213431 [GRCh37]
Chr9:9q34.13-34.3		 drug response
NM_014434.4(NDOR1):c.422C>T (p.Ala141Val) single nucleotide variant not specified [RCV004294250] Chr9:137213978 [GRCh38]
Chr9:140108430 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3 copy number gain not provided [RCV000683160] Chr9:135105971..141020389 [GRCh37]
Chr9:9q34.13-34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:140094273-140218283)x3 copy number gain not provided [RCV000753242] Chr9:140094273..140218283 [GRCh37]
Chr9:9q34.3		 benign
GRCh37/hg19 9q34.3(chr9:140094273-140218212)x3 copy number gain not provided [RCV000753241] Chr9:140094273..140218212 [GRCh37]
Chr9:9q34.3		 benign
GRCh37/hg19 9q34.3(chr9:140094273-140332474)x3 copy number gain not provided [RCV000753243] Chr9:140094273..140332474 [GRCh37]
Chr9:9q34.3		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:137816459-141114095)x1 copy number loss not provided [RCV000748787] Chr9:137816459..141114095 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:139766260-140186072)x3 copy number gain not provided [RCV000848688] Chr9:139766260..140186072 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:140064816-140759229)x3 copy number gain not provided [RCV000847406] Chr9:140064816..140759229 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_014434.4(NDOR1):c.782G>A (p.Arg261Gln) single nucleotide variant not specified [RCV004295819] Chr9:137214629 [GRCh38]
Chr9:140109081 [GRCh37]
Chr9:9q34.3		 likely benign
NM_014434.4(NDOR1):c.1226G>A (p.Arg409His) single nucleotide variant not specified [RCV004289192] Chr9:137215459 [GRCh38]
Chr9:140109911 [GRCh37]
Chr9:9q34.3		 uncertain significance
NC_000009.11:g.(?_138645763)_(140729425_?)del deletion Developmental and epileptic encephalopathy, 14 [RCV001362982]|Kleefstra syndrome 1 [RCV001031921] Chr9:138645763..140729425 [GRCh37]
Chr9:9q34.3		 pathogenic|uncertain significance
NC_000009.12:g.(?_137139467)_(137834973_?)del deletion Kleefstra syndrome 1 [RCV001031572] Chr9:140033919..140729425 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:138225001-141015001) copy number loss Microcephaly [RCV001252947] Chr9:138225001..141015001 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:139776707-140234193)x3 copy number gain not provided [RCV001259536] Chr9:139776707..140234193 [GRCh37]
Chr9:9q34.3		 uncertain significance
NC_000009.11:g.(?_139018777)_(141018984_?)del deletion Kleefstra syndrome 1 [RCV001267844] Chr9:139018777..141018984 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:139284464-141018984) copy number loss Cryptorchidism [RCV001352666] Chr9:139284464..141018984 [GRCh37]
Chr9:9q34.3		 pathogenic
NC_000009.11:g.(?_139089171)_(141016451_?)del deletion Rafiq syndrome [RCV003122293]|not provided [RCV003105304] Chr9:139089171..141016451 [GRCh37]
Chr9:9q34.3		 pathogenic|no classifications from unflagged records
GRCh37/hg19 9q34.3(chr9:139282807-141020389) copy number loss not specified [RCV002052852] Chr9:139282807..141020389 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:138740078-141020389) copy number loss not specified [RCV002052850] Chr9:138740078..141020389 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:140043049-141020389) copy number loss not specified [RCV002052854] Chr9:140043049..141020389 [GRCh37]
Chr9:9q34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:139563039-140310033) copy number loss not specified [RCV002052853] Chr9:139563039..140310033 [GRCh37]
Chr9:9q34.3		 uncertain significance
NC_000009.11:g.(?_140040158)_(141016451_?)del deletion Intellectual disability, autosomal dominant 8 [RCV003109674]|Kleefstra syndrome 1 [RCV003116549] Chr9:140040158..141016451 [GRCh37]
Chr9:9q34.3		 pathogenic|uncertain significance
NC_000009.11:g.(?_140036445)_(140138008_?)dup duplication Intellectual disability, autosomal dominant 8 [RCV003109676] Chr9:140036445..140138008 [GRCh37]
Chr9:9q34.3		 uncertain significance
NC_000009.11:g.(?_138392557)_(141016451_?)del deletion Adams-Oliver syndrome 5 [RCV003119767]|Developmental and epileptic encephalopathy, 14 [RCV003109684]|Familial aplasia of the vermis [RCV003119768] Chr9:138392557..141016451 [GRCh37]
Chr9:9q34.3		 pathogenic|uncertain significance
NC_000009.11:g.(?_131087402)_(141016451_?)dup duplication Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV003119700] Chr9:131087402..141016451 [GRCh37]
Chr9:9q34.11-34.3		 uncertain significance
NC_000009.11:g.(?_136218768)_(141016451_?)dup duplication Kleefstra syndrome 1 [RCV003122719] Chr9:136218768..141016451 [GRCh37]
Chr9:9q34.2-34.3		 uncertain significance
NM_014434.4(NDOR1):c.1675G>A (p.Val559Ile) single nucleotide variant not specified [RCV004219855] Chr9:137216297 [GRCh38]
Chr9:140110749 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.11C>T (p.Pro4Leu) single nucleotide variant not specified [RCV004214373] Chr9:137205788 [GRCh38]
Chr9:140100240 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.1514G>A (p.Arg505Gln) single nucleotide variant not specified [RCV004195254] Chr9:137215977 [GRCh38]
Chr9:140110429 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.731C>T (p.Ala244Val) single nucleotide variant not specified [RCV004205079] Chr9:137214578 [GRCh38]
Chr9:140109030 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.1139G>A (p.Arg380Gln) single nucleotide variant not specified [RCV004209859] Chr9:137215168 [GRCh38]
Chr9:140109620 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.1259C>T (p.Ser420Phe) single nucleotide variant not specified [RCV004137735] Chr9:137215492 [GRCh38]
Chr9:140109944 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.440G>C (p.Arg147Pro) single nucleotide variant not specified [RCV004192906] Chr9:137213996 [GRCh38]
Chr9:140108448 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.46A>G (p.Thr16Ala) single nucleotide variant not specified [RCV004223709] Chr9:137205823 [GRCh38]
Chr9:140100275 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.648C>G (p.Asn216Lys) single nucleotide variant not specified [RCV004138291] Chr9:137214339 [GRCh38]
Chr9:140108791 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.1316G>A (p.Arg439Gln) single nucleotide variant not specified [RCV004228681] Chr9:137215686 [GRCh38]
Chr9:140110138 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.929G>A (p.Arg310His) single nucleotide variant not specified [RCV004120355] Chr9:137214882 [GRCh38]
Chr9:140109334 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.298T>G (p.Ser100Ala) single nucleotide variant not specified [RCV004224592] Chr9:137212586 [GRCh38]
Chr9:140107038 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.299C>A (p.Ser100Tyr) single nucleotide variant not specified [RCV004224593] Chr9:137212587 [GRCh38]
Chr9:140107039 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.1516G>T (p.Asp506Tyr) single nucleotide variant not specified [RCV004197063] Chr9:137215979 [GRCh38]
Chr9:140110431 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.1513C>T (p.Arg505Trp) single nucleotide variant not specified [RCV004082726] Chr9:137215976 [GRCh38]
Chr9:140110428 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1 copy number loss See cases [RCV002640756] Chr9:134962336..137240181 [GRCh38]
Chr9:9q34.3		 pathogenic
NM_014434.4(NDOR1):c.1108G>A (p.Asp370Asn) single nucleotide variant not specified [RCV004217582] Chr9:137215137 [GRCh38]
Chr9:140109589 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.1622G>A (p.Arg541His) single nucleotide variant not specified [RCV004087011] Chr9:137216161 [GRCh38]
Chr9:140110613 [GRCh37]
Chr9:9q34.3		 likely benign
NM_014434.4(NDOR1):c.247C>T (p.Pro83Ser) single nucleotide variant not specified [RCV004106024] Chr9:137212535 [GRCh38]
Chr9:140106987 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.73G>A (p.Gly25Ser) single nucleotide variant not specified [RCV004075497] Chr9:137205850 [GRCh38]
Chr9:140100302 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.1459C>T (p.Arg487Cys) single nucleotide variant not specified [RCV004069298] Chr9:137215922 [GRCh38]
Chr9:140110374 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.833C>T (p.Pro278Leu) single nucleotide variant not specified [RCV004124789] Chr9:137214680 [GRCh38]
Chr9:140109132 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.1627G>C (p.Gly543Arg) single nucleotide variant not specified [RCV004100054] Chr9:137216166 [GRCh38]
Chr9:140110618 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.886C>T (p.Arg296Trp) single nucleotide variant not specified [RCV004147283] Chr9:137214839 [GRCh38]
Chr9:140109291 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.1138C>T (p.Arg380Trp) single nucleotide variant not specified [RCV004122585] Chr9:137215167 [GRCh38]
Chr9:140109619 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.682G>A (p.Val228Ile) single nucleotide variant not specified [RCV004221915] Chr9:137214373 [GRCh38]
Chr9:140108825 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.651G>T (p.Gln217His) single nucleotide variant not specified [RCV004096189] Chr9:137214342 [GRCh38]
Chr9:140108794 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.235C>T (p.Arg79Trp) single nucleotide variant not specified [RCV004294050] Chr9:137212523 [GRCh38]
Chr9:140106975 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.515T>C (p.Leu172Pro) single nucleotide variant not specified [RCV004276829] Chr9:137214206 [GRCh38]
Chr9:140108658 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.130C>T (p.Pro44Ser) single nucleotide variant not specified [RCV004276454] Chr9:137205907 [GRCh38]
Chr9:140100359 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.848T>A (p.Val283Asp) single nucleotide variant not specified [RCV004280089] Chr9:137214801 [GRCh38]
Chr9:140109253 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.814C>G (p.Gln272Glu) single nucleotide variant not specified [RCV004318018] Chr9:137214661 [GRCh38]
Chr9:140109113 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.377C>T (p.Pro126Leu) single nucleotide variant not specified [RCV004265466] Chr9:137213845 [GRCh38]
Chr9:140108297 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.23T>C (p.Val8Ala) single nucleotide variant not specified [RCV004260318] Chr9:137205800 [GRCh38]
Chr9:140100252 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.931C>T (p.Arg311Cys) single nucleotide variant not specified [RCV004335419] Chr9:137214884 [GRCh38]
Chr9:140109336 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.1727C>T (p.Pro576Leu) single nucleotide variant not specified [RCV004336493] Chr9:137216349 [GRCh38]
Chr9:140110801 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.1243C>T (p.Arg415Trp) single nucleotide variant not specified [RCV004341021] Chr9:137215476 [GRCh38]
Chr9:140109928 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.675C>A (p.Phe225Leu) single nucleotide variant not specified [RCV004344055] Chr9:137214366 [GRCh38]
Chr9:140108818 [GRCh37]
Chr9:9q34.3		 uncertain significance
GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3 copy number gain not provided [RCV003484786] Chr9:136988996..141020389 [GRCh37]
Chr9:9q34.2-34.3		 pathogenic
GRCh37/hg19 9q34.3(chr9:139942000-141074000)x3 copy number gain 9q34.3 microduplication-related neurodevelopmental disorder [RCV003761658] Chr9:139942000..141074000 [GRCh37]
Chr9:9q34.3		 likely pathogenic
GRCh37/hg19 9q34.3(chr9:140014769-140930811)x3 copy number gain 9q34.3 microduplication-related neurodevelopmental disorder [RCV003761662] Chr9:140014769..140930811 [GRCh37]
Chr9:9q34.3		 likely pathogenic
GRCh37/hg19 9q34.3(chr9:139685408-141050580)x3 copy number gain 9q34.3 microduplication-related neurodevelopmental disorder [RCV003761660] Chr9:139685408..141050580 [GRCh37]
Chr9:9q34.3		 likely pathogenic
GRCh37/hg19 9q34.3(chr9:139972953-140954193)x3 copy number gain 9q34.3 microduplication-related neurodevelopmental disorder [RCV003761661] Chr9:139972953..140954193 [GRCh37]
Chr9:9q34.3		 likely pathogenic
NM_014434.4(NDOR1):c.835C>T (p.Arg279Trp) single nucleotide variant not specified [RCV004479543] Chr9:137214682 [GRCh38]
Chr9:140109134 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.1225C>T (p.Arg409Cys) single nucleotide variant not specified [RCV004477348] Chr9:137215458 [GRCh38]
Chr9:140109910 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.1489G>A (p.Ala497Thr) single nucleotide variant not specified [RCV004479442] Chr9:137215952 [GRCh38]
Chr9:140110404 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.1658A>C (p.Lys553Thr) single nucleotide variant not specified [RCV004479461] Chr9:137216280 [GRCh38]
Chr9:140110732 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.257C>T (p.Ala86Val) single nucleotide variant not specified [RCV004479481] Chr9:137212545 [GRCh38]
Chr9:140106997 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.571G>A (p.Gly191Arg) single nucleotide variant not specified [RCV004479500] Chr9:137214262 [GRCh38]
Chr9:140108714 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.65A>G (p.Glu22Gly) single nucleotide variant not specified [RCV004479509] Chr9:137205842 [GRCh38]
Chr9:140100294 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.661G>A (p.Gly221Ser) single nucleotide variant not specified [RCV004479512] Chr9:137214352 [GRCh38]
Chr9:140108804 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.1291C>T (p.Pro431Ser) single nucleotide variant not specified [RCV004477358] Chr9:137215661 [GRCh38]
Chr9:140110113 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.322G>A (p.Val108Met) single nucleotide variant not specified [RCV004479489] Chr9:137213790 [GRCh38]
Chr9:140108242 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.901C>T (p.His301Tyr) single nucleotide variant not specified [RCV004479552] Chr9:137214854 [GRCh38]
Chr9:140109306 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.902A>G (p.His301Arg) single nucleotide variant not specified [RCV004479555] Chr9:137214855 [GRCh38]
Chr9:140109307 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.979C>T (p.Arg327Trp) single nucleotide variant not specified [RCV004479563] Chr9:137214932 [GRCh38]
Chr9:140109384 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.1552C>G (p.Gln518Glu) single nucleotide variant not specified [RCV004641386] Chr9:137216015 [GRCh38]
Chr9:140110467 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.155C>T (p.Pro52Leu) single nucleotide variant not specified [RCV004641389] Chr9:137206251 [GRCh38]
Chr9:140100703 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.1757A>G (p.Gln586Arg) single nucleotide variant not specified [RCV004641382] Chr9:137216379 [GRCh38]
Chr9:140110831 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.1255T>C (p.Ser419Pro) single nucleotide variant not specified [RCV004641383] Chr9:137215488 [GRCh38]
Chr9:140109940 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.54G>C (p.Gln18His) single nucleotide variant not specified [RCV004641385] Chr9:137205831 [GRCh38]
Chr9:140100283 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.866T>G (p.Leu289Arg) single nucleotide variant not specified [RCV004641388] Chr9:137214819 [GRCh38]
Chr9:140109271 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.637A>G (p.Met213Val) single nucleotide variant not specified [RCV004654600] Chr9:137214328 [GRCh38]
Chr9:140108780 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.1132G>C (p.Val378Leu) single nucleotide variant not specified [RCV004654601] Chr9:137215161 [GRCh38]
Chr9:140109613 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.1472A>G (p.Gln491Arg) single nucleotide variant not specified [RCV004641381] Chr9:137215935 [GRCh38]
Chr9:140110387 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.865C>G (p.Leu289Val) single nucleotide variant not specified [RCV004641387] Chr9:137214818 [GRCh38]
Chr9:140109270 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.716G>A (p.Gly239Asp) single nucleotide variant not specified [RCV004654602] Chr9:137214407 [GRCh38]
Chr9:140108859 [GRCh37]
Chr9:9q34.3		 uncertain significance
NM_014434.4(NDOR1):c.17T>C (p.Leu6Pro) single nucleotide variant not specified [RCV004641384] Chr9:137205794 [GRCh38]
Chr9:140100246 [GRCh37]
Chr9:9q34.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2202
Count of miRNA genes:574
Interacting mature miRNAs:659
Transcripts:ENST00000344894, ENST00000371521, ENST00000427047, ENST00000458322
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407100165GWAS749141_Herythrocyte count QTL GWAS749141 (human)1e-12erythrocyte countred blood cell count (CMO:0000025)9137205865137205866Human
407112579GWAS761555_Hreticulocyte measurement QTL GWAS761555 (human)3e-38reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)9137205865137205866Human
407185741GWAS834717_Hmean corpuscular volume QTL GWAS834717 (human)2e-08mean corpuscular volumemean corpuscular volume (CMO:0000038)9137205865137205866Human
406997897GWAS646873_Hreticulocyte measurement QTL GWAS646873 (human)2e-18reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)9137205865137205866Human
406964938GWAS613914_Hreticulocyte count QTL GWAS613914 (human)7e-14reticulocyte counttotal reticulocyte count (CMO:0003020)9137205865137205866Human
406950860GWAS599836_Hmean corpuscular hemoglobin concentration QTL GWAS599836 (human)7e-09mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)9137205865137205866Human
407116427GWAS765403_Hmean corpuscular volume QTL GWAS765403 (human)6e-11mean corpuscular volumemean corpuscular volume (CMO:0000038)9137205865137205866Human
407022032GWAS671008_Hmean corpuscular volume QTL GWAS671008 (human)5e-45mean corpuscular volumemean corpuscular volume (CMO:0000038)9137205865137205866Human
407066838GWAS715814_Hglomerular filtration rate QTL GWAS715814 (human)2e-10glomerular filtration rateglomerular filtration rate (CMO:0000490)9137208820137208821Human
407095764GWAS744740_Hglomerular filtration rate QTL GWAS744740 (human)4e-10glomerular filtration rateglomerular filtration rate (CMO:0000490)9137208820137208821Human
407318429GWAS967405_HHbA1c measurement QTL GWAS967405 (human)1e-11HbA1c measurementblood hemoglobin A1c level (CMO:0002786)9137217505137217506Human
406975903GWAS624879_Hmean corpuscular hemoglobin QTL GWAS624879 (human)6e-21mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)9137205865137205866Human
406970401GWAS619377_Hmean corpuscular volume QTL GWAS619377 (human)8e-16mean corpuscular volumemean corpuscular volume (CMO:0000038)9137205865137205866Human
406967462GWAS616438_Hreticulocyte count QTL GWAS616438 (human)2e-16mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)9137205865137205866Human
406968486GWAS617462_Hreticulocyte count QTL GWAS617462 (human)7e-18reticulocyte counttotal reticulocyte count (CMO:0003020)9137205865137205866Human
406961062GWAS610038_Hreticulocyte count QTL GWAS610038 (human)3e-14reticulocyte counttotal reticulocyte count (CMO:0003020)9137205865137205866Human
407187950GWAS836926_Hmean corpuscular hemoglobin QTL GWAS836926 (human)3e-08mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)9137205865137205866Human
406995886GWAS644862_Hreticulocyte measurement QTL GWAS644862 (human)2e-39reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)9137205865137205866Human
407339176GWAS988152_Hmean corpuscular hemoglobin QTL GWAS988152 (human)8e-43mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)9137205865137205866Human
407111541GWAS760517_Hmean corpuscular hemoglobin QTL GWAS760517 (human)4e-53mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)9137205865137205866Human
407342388GWAS991364_Herythrocyte count QTL GWAS991364 (human)5e-14erythrocyte countred blood cell count (CMO:0000025)9137205865137205866Human
406985590GWAS634566_Hreticulocyte count QTL GWAS634566 (human)9e-32reticulocyte counttotal reticulocyte count (CMO:0003020)9137205865137205866Human
407109938GWAS758914_Hreticulocyte count QTL GWAS758914 (human)8e-28reticulocyte counttotal reticulocyte count (CMO:0003020)9137205865137205866Human
406951222GWAS600198_Hprotein measurement QTL GWAS600198 (human)4e-196protein measurement9137205865137205866Human
407182589GWAS831565_Hglomerular filtration rate QTL GWAS831565 (human)1e-08glomerular filtration rateglomerular filtration rate (CMO:0000490)9137207235137207236Human
407004475GWAS653451_Hmean corpuscular hemoglobin QTL GWAS653451 (human)5e-56mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)9137205865137205866Human
407107641GWAS756617_Herythrocyte count QTL GWAS756617 (human)1e-15erythrocyte countred blood cell count (CMO:0000025)9137205865137205866Human

Markers in Region
RH102253  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379140,113,442 - 140,113,596UniSTSGRCh37
Build 369139,233,263 - 139,233,417RGDNCBI36
Cytogenetic Map9q34.3UniSTS
HuRef9109,573,156 - 109,573,310UniSTS
GeneMap99-GB4 RH Map9419.53UniSTS
RH18280  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379140,098,551 - 140,098,690UniSTSGRCh37
Build 369139,218,372 - 139,218,511RGDNCBI36
Celera9110,612,773 - 110,612,912RGD
Cytogenetic Map9q34.3UniSTS
HuRef9109,558,353 - 109,558,492UniSTS
GeneMap99-GB4 RH Map9428.93UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001144026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001144027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001144028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF199509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL929554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY077845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC078668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX255925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA408370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA858250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000371521   ⟹   ENSP00000360576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,205,695 - 137,217,009 (+)Ensembl
Ensembl Acc Id: ENST00000427047   ⟹   ENSP00000394309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,205,706 - 137,216,989 (+)Ensembl
Ensembl Acc Id: ENST00000458322   ⟹   ENSP00000389905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,205,750 - 137,216,444 (+)Ensembl
Ensembl Acc Id: ENST00000612145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,205,698 - 137,212,821 (+)Ensembl
Ensembl Acc Id: ENST00000613750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,205,685 - 137,215,146 (+)Ensembl
Ensembl Acc Id: ENST00000684003   ⟹   ENSP00000507194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9137,205,700 - 137,219,361 (+)Ensembl
RefSeq Acc Id: NM_001144026   ⟹   NP_001137498
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,205,700 - 137,219,361 (+)NCBI
GRCh379140,100,119 - 140,113,813 (+)NCBI
Celera9110,614,341 - 110,615,026 (+)RGD
HuRef9109,559,921 - 109,573,527 (+)RGD
CHM1_19140,248,853 - 140,262,545 (+)NCBI
T2T-CHM13v2.09149,443,371 - 149,457,030 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001144027   ⟹   NP_001137499
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,205,700 - 137,219,361 (+)NCBI
GRCh379140,100,119 - 140,113,813 (+)RGD
GRCh379140,100,119 - 140,113,813 (+)NCBI
Celera9110,614,341 - 110,615,026 (+)RGD
HuRef9109,559,921 - 109,573,527 (+)RGD
CHM1_19140,248,853 - 140,262,545 (+)NCBI
T2T-CHM13v2.09149,443,371 - 149,457,030 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001144028   ⟹   NP_001137500
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,205,700 - 137,219,361 (+)NCBI
GRCh379140,100,119 - 140,113,813 (+)RGD
Celera9110,614,341 - 110,615,026 (+)RGD
HuRef9109,559,921 - 109,573,527 (+)RGD
CHM1_19140,248,853 - 140,262,545 (+)NCBI
T2T-CHM13v2.09149,443,371 - 149,457,030 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014434   ⟹   NP_055249
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,205,700 - 137,219,361 (+)NCBI
GRCh379140,100,119 - 140,113,813 (+)RGD
GRCh379140,100,119 - 140,113,813 (+)NCBI
Build 369139,220,004 - 139,231,282 (+)NCBI Archive
Celera9110,614,341 - 110,615,026 (+)RGD
HuRef9109,559,921 - 109,573,527 (+)RGD
CHM1_19140,248,853 - 140,262,545 (+)NCBI
T2T-CHM13v2.09149,443,371 - 149,457,030 (+)NCBI
Sequence:
RefSeq Acc Id: NP_055249   ⟸   NM_014434
- Peptide Label: isoform b
- UniProtKB: Q86US9 (UniProtKB/Swiss-Prot),   Q5VSG4 (UniProtKB/Swiss-Prot),   D3YTH9 (UniProtKB/Swiss-Prot),   D3YTG6 (UniProtKB/Swiss-Prot),   Q96BC6 (UniProtKB/Swiss-Prot),   Q9UHB4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001137498   ⟸   NM_001144026
- Peptide Label: isoform a
- UniProtKB: Q9UHB4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001137499   ⟸   NM_001144027
- Peptide Label: isoform d
- UniProtKB: Q9UHB4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001137500   ⟸   NM_001144028
- Peptide Label: isoform c
- UniProtKB: Q9UHB4 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000360576   ⟸   ENST00000371521
Ensembl Acc Id: ENSP00000394309   ⟸   ENST00000427047
Ensembl Acc Id: ENSP00000389905   ⟸   ENST00000458322
Ensembl Acc Id: ENSP00000507194   ⟸   ENST00000684003
Protein Domains
FAD-binding FR-type   Flavodoxin-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UHB4-F1-model_v2 AlphaFold Q9UHB4 1-597 view protein structure

Promoters
RGD ID:7216789
Promoter ID:EPDNEW_H14140
Type:initiation region
Name:NDOR1_1
Description:NADPH dependent diflavin oxidoreductase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389137,205,703 - 137,205,763EPDNEW
RGD ID:6807921
Promoter ID:HG_KWN:65726
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:ENST00000343666,   NM_001144026,   NM_001144027,   NM_001144028,   NM_014434,   OTTHUMT00000055325
Position:
Human AssemblyChrPosition (strand)Source
Build 369139,218,336 - 139,220,132 (+)MPROMDB
RGD ID:6813667
Promoter ID:HG_ACW:83033
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:NDOR1.DAPR07,   NDOR1.GAPR07,   NDOR1.IAPR07,   NDOR1.JAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 369139,227,271 - 139,228,772 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29838 AgrOrtholog
COSMIC NDOR1 COSMIC
Ensembl Genes ENSG00000188566 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000371521 ENTREZGENE
  ENST00000371521.8 UniProtKB/Swiss-Prot
  ENST00000427047 ENTREZGENE
  ENST00000427047.6 UniProtKB/Swiss-Prot
  ENST00000458322 ENTREZGENE
  ENST00000458322.2 UniProtKB/Swiss-Prot
  ENST00000684003 ENTREZGENE
  ENST00000684003.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.360 UniProtKB/Swiss-Prot
  3.40.50.80 UniProtKB/Swiss-Prot
  Translation factors UniProtKB/Swiss-Prot
GTEx ENSG00000188566 GTEx
HGNC ID HGNC:29838 ENTREZGENE
Human Proteome Map NDOR1 Human Proteome Map
InterPro CysJ-like_FAD-binding UniProtKB/Swiss-Prot
  FAD-bd_FR_type UniProtKB/Swiss-Prot
  Flavdoxin-like UniProtKB/Swiss-Prot
  Flavodoxin/NO_synth UniProtKB/Swiss-Prot
  Flavoprot_Pyr_Nucl_cyt_Rdtase UniProtKB/Swiss-Prot
  Flavoprotein-like_sf UniProtKB/Swiss-Prot
  FNR_nucleotide-bd UniProtKB/Swiss-Prot
  NADPH_Cyt_P450_Rdtase_alpha UniProtKB/Swiss-Prot
  NDOR1 UniProtKB/Swiss-Prot
  OxRdtase_FAD/NAD-bd UniProtKB/Swiss-Prot
  Riboflavin_synthase-like_b-brl UniProtKB/Swiss-Prot
KEGG Report hsa:27158 UniProtKB/Swiss-Prot
NCBI Gene 27158 ENTREZGENE
OMIM 606073 OMIM
PANTHER NADPH-DEPENDENT DIFLAVIN OXIDOREDUCTASE 1 UniProtKB/Swiss-Prot
  NITRIC OXIDE SYNTHASE-RELATED UniProtKB/Swiss-Prot
Pfam FAD_binding_1 UniProtKB/Swiss-Prot
  Flavodoxin_1 UniProtKB/Swiss-Prot
  NAD_binding_1 UniProtKB/Swiss-Prot
PharmGKB PA134885020 PharmGKB
PRINTS FLAVODOXIN UniProtKB/Swiss-Prot
  FPNCR UniProtKB/Swiss-Prot
PROSITE FAD_FR UniProtKB/Swiss-Prot
  FLAVODOXIN_LIKE UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52218 UniProtKB/Swiss-Prot
  SSF52343 UniProtKB/Swiss-Prot
  SSF63380 UniProtKB/Swiss-Prot
UniProt D3YTG6 ENTREZGENE
  D3YTH9 ENTREZGENE
  NDOR1_HUMAN UniProtKB/Swiss-Prot
  Q5VSG4 ENTREZGENE
  Q86US9 ENTREZGENE
  Q96BC6 ENTREZGENE
  Q9UHB4 ENTREZGENE
UniProt Secondary D3YTG6 UniProtKB/Swiss-Prot
  D3YTH9 UniProtKB/Swiss-Prot
  Q5VSG4 UniProtKB/Swiss-Prot
  Q86US9 UniProtKB/Swiss-Prot
  Q96BC6 UniProtKB/Swiss-Prot