C19orf12 (chromosome 19 open reading frame 12) - Rat Genome Database

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Gene: C19orf12 (chromosome 19 open reading frame 12) Homo sapiens
Analyze
Symbol: C19orf12
Name: chromosome 19 open reading frame 12
RGD ID: 1319491
HGNC Page HGNC:25443
Description: Involved in several processes, including autophagy; mitochondrial calcium ion homeostasis; and response to oxidative stress. Located in cytosol; endoplasmic reticulum; and mitochondrial membrane. Implicated in hereditary spastic paraplegia 43 and neurodegeneration with brain iron accumulation 4.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DKFZp762D096; hypothetical protein LOC83636; membrane protein-associated neurodegeneration; MGC10922; MPAN; NBIA3; NBIA4; neurodegeneration with brain iron accumulation 3; neurodegeneration with brain iron accumulation 4; spastic paraplegia 43 (autosomal recessive); SPG43; uncharacterized protein C19orf12
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
GRCh381929,698,886 - 29,715,789 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1929,698,937 - 29,715,789 (-)EnsemblGRCh38hg38GRCh38
GRCh371930,189,793 - 30,206,696 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361934,881,633 - 34,898,292 (-)NCBINCBI36Build 36hg18NCBI36
Build 341934,883,914 - 34,897,952NCBI
Celera1926,887,993 - 26,904,652 (-)NCBICelera
Cytogenetic Map19q12NCBI
HuRef1926,701,836 - 26,718,525 (-)NCBIHuRef
CHM1_11930,191,134 - 30,208,046 (-)NCBICHM1_1
T2T-CHM13v2.01932,224,628 - 32,241,529 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)
cytosol  (IDA,IEA)
endoplasmic reticulum  (IDA,IEA)
membrane  (IEA)
mitochondrial membrane  (IDA,IEA)
mitochondrion  (HTP,IDA,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal central motor function  (IAGP)
Abnormal lower motor neuron morphology  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of iron homeostasis  (IAGP)
Adult-onset night blindness  (IAGP)
Ankle flexion contracture  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Cerebellar atrophy  (IAGP)
Childhood onset  (IAGP)
Delayed speech and language development  (IAGP)
Dementia  (IAGP)
Depression  (IAGP)
Distal amyotrophy  (IAGP)
Distal muscle weakness  (IAGP)
Distal sensory impairment  (IAGP)
Dysarthria  (IAGP)
Dystonia  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Emotional lability  (IAGP)
Eye of the tiger anomaly of globus pallidus  (IAGP)
Gait disturbance  (IAGP)
Generalized dystonia  (IAGP)
Global developmental delay  (IAGP)
Hyperreflexia  (IAGP)
Hyporeflexia  (IAGP)
Impulsivity  (IAGP)
Intellectual disability  (IAGP)
Juvenile onset  (IAGP)
Knee flexion contracture  (IAGP)
Lewy bodies  (IAGP)
Loss of ambulation  (IAGP)
Mental deterioration  (IAGP)
Motor axonal neuropathy  (IAGP)
Muscle weakness  (IAGP)
Neurodegeneration  (IAGP)
Optic atrophy  (IAGP)
Oromandibular dystonia  (IAGP)
Parkinsonism  (IAGP)
Peripheral neuropathy  (IAGP)
Peripheral visual field loss  (IAGP)
Pes cavus  (IAGP)
Progressive  (IAGP)
Progressive visual loss  (IAGP)
Scapular winging  (IAGP)
Slowly progressive  (IAGP)
Spastic ataxia  (IAGP)
Spastic paraplegia  (IAGP)
Spasticity  (IAGP)
Tremor  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:14702039   PMID:16344560   PMID:20039086   PMID:20098747   PMID:20301334   PMID:20301682   PMID:21832049   PMID:21981780   PMID:22584950   PMID:22691760   PMID:22704260   PMID:23166001  
PMID:23269600   PMID:23447832   PMID:23494994   PMID:23857908   PMID:24209434   PMID:24575447   PMID:24586779   PMID:24636776   PMID:25668476   PMID:25962551   PMID:26136767   PMID:26187298  
PMID:26714052   PMID:27772766   PMID:28347614   PMID:28347615   PMID:28365006   PMID:29325618   PMID:30553531   PMID:31518459   PMID:31607023   PMID:31804703   PMID:32932022   PMID:33260061  
PMID:33394258   PMID:34298215   PMID:34800366   PMID:35182730   PMID:35188090   PMID:36863113   PMID:37004026  


Genomics

Comparative Map Data
C19orf12
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381929,698,886 - 29,715,789 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1929,698,937 - 29,715,789 (-)EnsemblGRCh38hg38GRCh38
GRCh371930,189,793 - 30,206,696 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361934,881,633 - 34,898,292 (-)NCBINCBI36Build 36hg18NCBI36
Build 341934,883,914 - 34,897,952NCBI
Celera1926,887,993 - 26,904,652 (-)NCBICelera
Cytogenetic Map19q12NCBI
HuRef1926,701,836 - 26,718,525 (-)NCBIHuRef
CHM1_11930,191,134 - 30,208,046 (-)NCBICHM1_1
T2T-CHM13v2.01932,224,628 - 32,241,529 (-)NCBIT2T-CHM13v2.0
1600014C10Rik
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39737,882,642 - 37,896,992 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl737,882,642 - 37,896,992 (+)EnsemblGRCm39 Ensembl
GRCm38738,183,217 - 38,197,568 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl738,183,217 - 38,197,568 (+)EnsemblGRCm38mm10GRCm38
MGSCv37738,968,236 - 38,982,587 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36737,892,904 - 37,906,650 (+)NCBIMGSCv36mm8
Celera733,347,042 - 33,361,168 (+)NCBICelera
Cytogenetic Map7B3NCBI
cM Map725.36NCBI
C1h19orf12
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81100,010,280 - 100,023,907 (+)NCBIGRCr8
mRatBN7.2190,873,578 - 90,887,205 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl190,873,549 - 90,886,208 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx196,269,239 - 96,283,185 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01104,734,952 - 104,748,898 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0198,027,585 - 98,041,201 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0194,572,714 - 94,587,842 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl194,579,080 - 94,587,219 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0195,665,455 - 95,679,093 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4190,662,111 - 90,674,684 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera185,215,829 - 85,219,248 (+)NCBICelera
Cytogenetic Map1q21NCBI
LOC102011427
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554687,903,432 - 7,914,038 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554687,903,438 - 7,914,038 (+)NCBIChiLan1.0ChiLan1.0
C20H19orf12
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22035,672,683 - 35,697,670 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11937,676,242 - 37,692,626 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01926,626,994 - 26,643,372 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11935,385,878 - 35,401,969 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1935,385,884 - 35,401,408 (-)Ensemblpanpan1.1panPan2
C1H19orf12
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11121,823,827 - 121,838,242 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1121,758,236 - 121,766,652 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1121,758,236 - 121,766,652 (+)NCBICanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1121,129,006 - 121,140,594 (+)NCBIDog10K_Boxer_Tasha
CUNH19orf12
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244093496,005,799 - 6,017,134 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365705,628,515 - 5,641,056 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365705,628,593 - 5,640,982 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C6H19orf12
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl639,813,665 - 39,825,000 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1639,813,644 - 39,825,069 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2635,168,219 - 35,176,324 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CUNH19orf12
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1624,769,788 - 24,784,248 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl624,770,567 - 24,783,703 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660732,303,932 - 2,317,210 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
CUNH19orf12
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247944,871,588 - 4,880,542 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247944,869,914 - 4,882,651 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in C19orf12
265 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_031448.6(C19orf12):c.121G>A (p.Val41Ile) single nucleotide variant Hereditary spastic paraplegia 43 [RCV000550717] Chr19:29708293 [GRCh38]
Chr19:30199200 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.182dup (p.Leu61fs) duplication Neurodegeneration with brain iron accumulation 4 [RCV001548764] Chr19:29702955..29702956 [GRCh38]
Chr19:30193862..30193863 [GRCh37]
Chr19:19q12		 pathogenic
NM_031448.6(C19orf12):c.238C>T (p.Leu80=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV001428225] Chr19:29702900 [GRCh38]
Chr19:30193807 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.171_181del (p.Gly58fs) deletion C19orf12-related disorder [RCV003904862]|Hereditary spastic paraplegia 43 [RCV001044832]|Neurodegeneration with brain iron accumulation 4 [RCV000024151]|Neurodegeneration with brain iron accumulation [RCV003155040]|not provided [RCV001781311] Chr19:29702957..29702967 [GRCh38]
Chr19:30193864..30193874 [GRCh37]
Chr19:19q12		 pathogenic|likely pathogenic
NM_031448.6(C19orf12):c.-2C>T single nucleotide variant Abnormality of iron homeostasis [RCV001004003]|Hereditary spastic paraplegia 43 [RCV003743545]|Neurodegeneration with brain iron accumulation 4 [RCV000024152]|Neurodegeneration with brain iron accumulation [RCV004700277]|not provided [RCV000426086] Chr19:29708415 [GRCh38]
Chr19:30199322 [GRCh37]
Chr19:19q12		 pathogenic|likely pathogenic
NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg) single nucleotide variant Dystonic disorder [RCV000414809]|Hereditary spastic paraplegia 43 [RCV000528859]|Neurodegeneration with brain iron accumulation 4 [RCV000024153]|Neurodegeneration with brain iron accumulation [RCV003230372]|not provided [RCV001781312] Chr19:29702966 [GRCh38]
Chr19:30193873 [GRCh37]
Chr19:19q12		 pathogenic|likely pathogenic
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu) single nucleotide variant Dystonic disorder [RCV000415210]|Hereditary spastic paraplegia 43 [RCV001083182]|Hereditary spastic paraplegia 5A [RCV000714889]|Hereditary spastic paraplegia [RCV001847623]|Neurodegeneration with brain iron accumulation 4 [RCV000024154]|Neurodegeneration with brain iron accumulation 4 [RCV000509226]|not provided [RCV000553096]|not specified [RCV001844017] Chr19:29702747 [GRCh38]
Chr19:30193654 [GRCh37]
Chr19:19q12		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records|not provided
NM_031448.6(C19orf12):c.362T>A (p.Leu121Gln) single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000024323] Chr19:29702776 [GRCh38]
Chr19:30193683 [GRCh37]
Chr19:19q12		 pathogenic
NM_001031726.4(C19orf12):c.164_166delGGG deletion Neurodegeneration with brain iron accumulation 4 [RCV000074455]|Neurodegeneration with brain iron accumulation [RCV002265593]|Neurofibromatosis, type 1 [RCV004562242]|not provided [RCV001311507] Chr19:29702972..29702974 [GRCh38]
Chr19:30193879..30193881 [GRCh37]
Chr19:19q12		 pathogenic|likely pathogenic
NM_031448.6(C19orf12):c.154G>C (p.Ala52Pro) single nucleotide variant Hereditary spastic paraplegia 43 [RCV000074453]|Neurodegeneration with brain iron accumulation 4 [RCV000074454]|not provided [RCV000493663] Chr19:29708260 [GRCh38]
Chr19:30199167 [GRCh37]
Chr19:19q12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 copy number gain See cases [RCV000050635] Chr19:17176767..34924150 [GRCh38]
Chr19:17287576..35415054 [GRCh37]
Chr19:17148576..40106894 [NCBI36]
Chr19:19p13.11-q13.11		 pathogenic
NM_031448.6(C19orf12):c.324C>T (p.Thr108=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV001510121]|Neurodegeneration with brain iron accumulation 4 [RCV000259545]|not provided [RCV004716951]|not specified [RCV000116507] Chr19:29702814 [GRCh38]
Chr19:30193721 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.392A>C (p.Lys131Thr) single nucleotide variant Hereditary spastic paraplegia 43 [RCV000460848]|Hereditary spastic paraplegia [RCV001847678]|Neurodegeneration with brain iron accumulation 4 [RCV000356548]|not provided [RCV004716952]|not specified [RCV000116508] Chr19:29702746 [GRCh38]
Chr19:30193653 [GRCh37]
Chr19:19q12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001031726.3(C19orf12):c.204_214del11 (p.Gly69Argfs) deletion Neurodegeneration with brain iron accumulation 4 [RCV000119028] Chr19:29702957..29702967 [GRCh38]
Chr19:30193864..30193874 [GRCh37]
Chr19:19q12		 pathogenic
NM_001031726.3(C19orf12):c.205G>A (p.Gly69Arg) single nucleotide variant Dystonia [RCV000414809]|Mental deterioration [RCV000414809]|Neurodegeneration with brain iron accumulation 4 [RCV000119029]|Spastic paraplegia 43, autosomal recessive [RCV000528859] Chr19:29702966 [GRCh38]
Chr19:30193873 [GRCh37]
Chr19:19q12		 pathogenic
NM_031448.6(C19orf12):c.138C>T (p.Gly46=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002573253]|not provided [RCV001579641] Chr19:29708276 [GRCh38]
Chr19:30199183 [GRCh37]
Chr19:19q12		 likely benign
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1 copy number loss See cases [RCV000135879] Chr19:29661858..38114723 [GRCh38]
Chr19:30152765..38605363 [GRCh37]
Chr19:34844605..43297203 [NCBI36]
Chr19:19q12-13.13		 pathogenic
GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1 copy number loss See cases [RCV000136794] Chr19:29671324..37902990 [GRCh38]
Chr19:30162231..38393630 [GRCh37]
Chr19:34854071..43085470 [NCBI36]
Chr19:19q12-13.13		 pathogenic
GRCh38/hg38 19q12(chr19:29686202-29751260)x3 copy number gain See cases [RCV000140172] Chr19:29686202..29751260 [GRCh38]
Chr19:30177109..30242167 [GRCh37]
Chr19:34868949..34934007 [NCBI36]
Chr19:19q12		 likely benign
GRCh38/hg38 19q12-13.11(chr19:29051888-31967596)x1 copy number loss See cases [RCV000141953] Chr19:29051888..31967596 [GRCh38]
Chr19:29542795..32458502 [GRCh37]
Chr19:34234635..37150342 [NCBI36]
Chr19:19q12-13.11		 likely pathogenic|uncertain significance
GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3 copy number gain See cases [RCV000143705] Chr19:27780238..34783942 [GRCh38]
Chr19:28271146..35274846 [GRCh37]
Chr19:32962986..39966686 [NCBI36]
Chr19:19q11-13.11		 uncertain significance
NM_031448.6(C19orf12):c.124G>A (p.Gly42Arg) single nucleotide variant Hereditary spastic paraplegia 43 [RCV001231447]|Hereditary spastic paraplegia [RCV000516097]|Neurodegeneration [RCV000162119]|Neurodegeneration with brain iron accumulation [RCV003479030]|not provided [RCV000292174] Chr19:29708290 [GRCh38]
Chr19:30199197 [GRCh37]
Chr19:19q12		 pathogenic|likely pathogenic|uncertain significance
NM_031448.6(C19orf12):c.225_226delinsTGGAGGAACAGT (p.Gln75fs) indel Neurodegeneration with brain iron accumulation 4 [RCV000194885] Chr19:29702912..29702913 [GRCh38]
Chr19:30193819..30193820 [GRCh37]
Chr19:19q12		 pathogenic
NM_031448.6(C19orf12):c.215C>T (p.Pro72Leu) single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000211114] Chr19:29702923 [GRCh38]
Chr19:30193830 [GRCh37]
Chr19:19q12		 pathogenic|likely pathogenic
NM_031448.6(C19orf12):c.216G>A (p.Pro72=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV000231698]|Neurodegeneration with brain iron accumulation 4 [RCV000298293]|not provided [RCV001705248] Chr19:29702922 [GRCh38]
Chr19:30193829 [GRCh37]
Chr19:19q12		 benign|likely benign|uncertain significance
NM_031448.6(C19orf12):c.69G>A (p.Ala23=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV000229001]|Hereditary spastic paraplegia [RCV001847954]|Neurodegeneration with brain iron accumulation 4 [RCV000277296]|not provided [RCV001090561]|not specified [RCV000295642] Chr19:29708345 [GRCh38]
Chr19:30199252 [GRCh37]
Chr19:19q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_031448.6(C19orf12):c.*1020del deletion Neurodegeneration with brain iron accumulation 4 [RCV000268497] Chr19:29701692 [GRCh38]
Chr19:30192599 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.*3372C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000304996] Chr19:29699340 [GRCh38]
Chr19:30190247 [GRCh37]
Chr19:19q12		 benign|uncertain significance
NM_031448.6(C19orf12):c.*1826G>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000272734]|not provided [RCV003221923] Chr19:29700886 [GRCh38]
Chr19:30191793 [GRCh37]
Chr19:19q12		 likely benign|uncertain significance
NM_031448.6(C19orf12):c.*2961T>C single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000275470]|not provided [RCV004717234] Chr19:29699751 [GRCh38]
Chr19:30190658 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.*471G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000293018] Chr19:29702241 [GRCh38]
Chr19:30193148 [GRCh37]
Chr19:19q12		 likely benign|uncertain significance
NM_031448.6(C19orf12):c.*1170C>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000295945] Chr19:29701542 [GRCh38]
Chr19:30192449 [GRCh37]
Chr19:19q12		 benign|likely benign
NM_031448.6(C19orf12):c.*1362G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000278219] Chr19:29701350 [GRCh38]
Chr19:30192257 [GRCh37]
Chr19:19q12		 benign|likely benign
NM_031448.6(C19orf12):c.*718G>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000280253] Chr19:29701994 [GRCh38]
Chr19:30192901 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*1145G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000308767]|not provided [RCV004717238] Chr19:29701567 [GRCh38]
Chr19:30192474 [GRCh37]
Chr19:19q12		 benign|likely benign
NM_031448.6(C19orf12):c.*3672C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000259471] Chr19:29699040 [GRCh38]
Chr19:30189947 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.-10-12T>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000270466] Chr19:29708435 [GRCh38]
Chr19:30199342 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*3337G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000343448] Chr19:29699375 [GRCh38]
Chr19:30190282 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*1144C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000366550]|not provided [RCV004717239] Chr19:29701568 [GRCh38]
Chr19:30192475 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.*2100G>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000311441]|not provided [RCV004717235] Chr19:29700612 [GRCh38]
Chr19:30191519 [GRCh37]
Chr19:19q12		 benign|likely benign
NM_031448.6(C19orf12):c.313G>A (p.Val105Met) single nucleotide variant Hereditary spastic paraplegia 43 [RCV000468820]|Hereditary spastic paraplegia [RCV001848060]|Neurodegeneration with brain iron accumulation 4 [RCV001126321]|not provided [RCV000304840]|not specified [RCV003323494] Chr19:29702825 [GRCh38]
Chr19:30193732 [GRCh37]
Chr19:19q12		 likely benign|uncertain significance
NM_031448.6(C19orf12):c.*2763A>G single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000345008] Chr19:29699949 [GRCh38]
Chr19:30190856 [GRCh37]
Chr19:19q12		 benign|likely benign
NM_031448.6(C19orf12):c.*2790dup duplication Neurodegeneration with brain iron accumulation 4 [RCV000287660] Chr19:29699921..29699922 [GRCh38]
Chr19:30190828..30190829 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.*3217T>C single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000276658] Chr19:29699495 [GRCh38]
Chr19:30190402 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*3571C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000316793] Chr19:29699141 [GRCh38]
Chr19:30190048 [GRCh37]
Chr19:19q12		 benign|likely benign
NM_031448.6(C19orf12):c.*1880T>C single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000368472] Chr19:29700832 [GRCh38]
Chr19:30191739 [GRCh37]
Chr19:19q12		 likely benign|uncertain significance
NM_031448.6(C19orf12):c.*1686T>C single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000325438]|not provided [RCV004717236] Chr19:29701026 [GRCh38]
Chr19:30191933 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.*3399_*3400insA insertion Neurodegeneration with brain iron accumulation 4 [RCV000397535] Chr19:29699312..29699313 [GRCh38]
Chr19:30190219..30190220 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.*3336C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000397691] Chr19:29699376 [GRCh38]
Chr19:30190283 [GRCh37]
Chr19:19q12		 benign|likely benign
NM_031448.6(C19orf12):c.*47T>C single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000397742]|not provided [RCV001539439] Chr19:29702665 [GRCh38]
Chr19:30193572 [GRCh37]
Chr19:19q12		 benign|likely benign
NM_031448.6(C19orf12):c.*814G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000320222] Chr19:29701898 [GRCh38]
Chr19:30192805 [GRCh37]
Chr19:19q12		 likely benign|uncertain significance
NM_031448.6(C19orf12):c.*2222A>C single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000369584] Chr19:29700490 [GRCh38]
Chr19:30191397 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*2956G>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000327453] Chr19:29699756 [GRCh38]
Chr19:30190663 [GRCh37]
Chr19:19q12		 likely benign|uncertain significance
NM_031448.6(C19orf12):c.*2449G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000280780] Chr19:29700263 [GRCh38]
Chr19:30191170 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*1020C>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000321289]|not provided [RCV004717241] Chr19:29701692 [GRCh38]
Chr19:30192599 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.*791G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000372509] Chr19:29701921 [GRCh38]
Chr19:30192828 [GRCh37]
Chr19:19q12		 likely benign|uncertain significance
NM_031448.6(C19orf12):c.*3745G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000375115] Chr19:29698967 [GRCh38]
Chr19:30189874 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*2186C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000400351] Chr19:29700526 [GRCh38]
Chr19:30191433 [GRCh37]
Chr19:19q12		 benign|likely benign
NM_031448.6(C19orf12):c.*1536T>C single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000284304] Chr19:29701176 [GRCh38]
Chr19:30192083 [GRCh37]
Chr19:19q12		 likely benign|uncertain significance
NM_031448.6(C19orf12):c.*1592A>G single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000324156] Chr19:29701120 [GRCh38]
Chr19:30192027 [GRCh37]
Chr19:19q12		 likely benign|uncertain significance
NM_031448.6(C19orf12):c.-11+181T>C single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000325496]|not provided [RCV000767334]|not specified [RCV000424392] Chr19:29714944 [GRCh38]
Chr19:30205851 [GRCh37]
Chr19:19q12		 benign|likely benign|uncertain significance|not provided
NM_031448.6(C19orf12):c.*1557T>C single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000376458] Chr19:29701155 [GRCh38]
Chr19:30192062 [GRCh37]
Chr19:19q12		 likely benign|uncertain significance
NM_031448.6(C19orf12):c.-11+124G>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000376520]|not provided [RCV004694430] Chr19:29715001 [GRCh38]
Chr19:30205908 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*2691A>G single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000378356] Chr19:29700021 [GRCh38]
Chr19:30190928 [GRCh37]
Chr19:19q12		 likely benign|uncertain significance
NM_031448.6(C19orf12):c.*2662C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000286484] Chr19:29700050 [GRCh38]
Chr19:30190957 [GRCh37]
Chr19:19q12		 benign|likely benign
NM_031448.6(C19orf12):c.*437C>G single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000287587]|not provided [RCV004717243] Chr19:29702275 [GRCh38]
Chr19:30193182 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.68C>T (p.Ala23Val) single nucleotide variant Hereditary spastic paraplegia 43 [RCV000797968]|Neurodegeneration with brain iron accumulation 4 [RCV000330049]|not provided [RCV003144216] Chr19:29708346 [GRCh38]
Chr19:30199253 [GRCh37]
Chr19:19q12		 conflicting interpretations of pathogenicity|uncertain significance
NM_031448.6(C19orf12):c.*3402dup duplication Neurodegeneration with brain iron accumulation 4 [RCV000344474] Chr19:29699309..29699310 [GRCh38]
Chr19:30190216..30190217 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*437C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000383953] Chr19:29702275 [GRCh38]
Chr19:30193182 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*3463G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000384002] Chr19:29699249 [GRCh38]
Chr19:30190156 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.*1021dup duplication Neurodegeneration with brain iron accumulation 4 [RCV000360777] Chr19:29701690..29701691 [GRCh38]
Chr19:30192597..30192598 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.-11+149G>C single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000290367]|not provided [RCV004703775]|not specified [RCV000601813] Chr19:29714976 [GRCh38]
Chr19:30205883 [GRCh37]
Chr19:19q12		 likely benign|uncertain significance
NM_031448.6(C19orf12):c.*541G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000332990] Chr19:29702171 [GRCh38]
Chr19:30193078 [GRCh37]
Chr19:19q12		 likely benign|uncertain significance
NM_031448.6(C19orf12):c.*3096_*3097insG insertion Neurodegeneration with brain iron accumulation 4 [RCV000334107] Chr19:29699615..29699616 [GRCh38]
Chr19:30190522..30190523 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.*1219C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000335671]|not provided [RCV004717237] Chr19:29701493 [GRCh38]
Chr19:30192400 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.*3417C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000291979] Chr19:29699295 [GRCh38]
Chr19:30190202 [GRCh37]
Chr19:19q12		 likely benign|uncertain significance
NM_031448.6(C19orf12):c.*2373G>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000338193] Chr19:29700339 [GRCh38]
Chr19:30191246 [GRCh37]
Chr19:19q12		 likely benign|uncertain significance
NM_031448.6(C19orf12):c.*84C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000339223]|not provided [RCV001711943] Chr19:29702628 [GRCh38]
Chr19:30193535 [GRCh37]
Chr19:19q12		 benign|likely benign
NM_031448.6(C19orf12):c.*3518C>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000295829] Chr19:29699194 [GRCh38]
Chr19:30190101 [GRCh37]
Chr19:19q12		 benign|likely benign
NM_031448.6(C19orf12):c.*2621C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000339130] Chr19:29700091 [GRCh38]
Chr19:30190998 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*1158C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000394776] Chr19:29701554 [GRCh38]
Chr19:30192461 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*1114C>G single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000394785]|not provided [RCV004717240] Chr19:29701598 [GRCh38]
Chr19:30192505 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.*2526del deletion Neurodegeneration with brain iron accumulation 4 [RCV000395667] Chr19:29700186 [GRCh38]
Chr19:30191093 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.*2310C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000395675] Chr19:29700402 [GRCh38]
Chr19:30191309 [GRCh37]
Chr19:19q12		 likely benign|uncertain significance
NM_031448.6(C19orf12):c.*137G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000397757] Chr19:29702575 [GRCh38]
Chr19:30193482 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*944A>G single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000359749] Chr19:29701768 [GRCh38]
Chr19:30192675 [GRCh37]
Chr19:19q12		 benign|uncertain significance
NM_031448.6(C19orf12):c.*2893G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000384293] Chr19:29699819 [GRCh38]
Chr19:30190726 [GRCh37]
Chr19:19q12		 benign|likely benign
NM_031448.6(C19orf12):c.*881G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000262157]|not provided [RCV004717242] Chr19:29701831 [GRCh38]
Chr19:30192738 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.*2270T>G single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000298387] Chr19:29700442 [GRCh38]
Chr19:30191349 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*20G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000299358] Chr19:29702692 [GRCh38]
Chr19:30193599 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*3026G>C single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000386151] Chr19:29699686 [GRCh38]
Chr19:30190593 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*3288T>G single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000263834] Chr19:29699424 [GRCh38]
Chr19:30190331 [GRCh37]
Chr19:19q12		 uncertain significance
NM_001031726.3(C19orf12):c.*3819T>G single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000318100] Chr19:29698893 [GRCh38]
Chr19:30189800 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.*3304T>C single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000303860] Chr19:29699408 [GRCh38]
Chr19:30190315 [GRCh37]
Chr19:19q12		 likely benign|uncertain significance
NM_031448.6(C19orf12):c.*1159C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000348472] Chr19:29701553 [GRCh38]
Chr19:30192460 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*1488T>G single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000318281] Chr19:29701224 [GRCh38]
Chr19:30192131 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*1671C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000363757] Chr19:29701041 [GRCh38]
Chr19:30191948 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*500G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000389768] Chr19:29702212 [GRCh38]
Chr19:30193119 [GRCh37]
Chr19:19q12		 likely benign|uncertain significance
NM_031448.6(C19orf12):c.*1595G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000266791] Chr19:29701117 [GRCh38]
Chr19:30192024 [GRCh37]
Chr19:19q12		 uncertain significance
GRCh37/hg19 19q12(chr19:30162495-30193721)x1 copy number loss not provided [RCV000752654] Chr19:30162495..30193721 [GRCh37]
Chr19:19q12		 benign
GRCh37/hg19 19q12(chr19:30185697-30189800)x1 copy number loss not provided [RCV000752656] Chr19:30185697..30189800 [GRCh37]
Chr19:19q12		 benign
GRCh37/hg19 19q12(chr19:30185697-30192475)x1 copy number loss not provided [RCV000752657] Chr19:30185697..30192475 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.244C>T (p.Pro82Ser) single nucleotide variant not provided [RCV003314830] Chr19:29702894 [GRCh38]
Chr19:30193801 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.205C>T (p.Gln69Ter) single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000502393]|not provided [RCV000488270] Chr19:29702933 [GRCh38]
Chr19:30193840 [GRCh37]
Chr19:19q12		 pathogenic|likely pathogenic
NM_031448.6(C19orf12):c.*308C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000344971] Chr19:29702404 [GRCh38]
Chr19:30193311 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*136C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000305089] Chr19:29702576 [GRCh38]
Chr19:30193483 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*3492G>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000348367] Chr19:29699220 [GRCh38]
Chr19:30190127 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.-11+163G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000384687] Chr19:29714962 [GRCh38]
Chr19:30205869 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*1178C>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000405368] Chr19:29701534 [GRCh38]
Chr19:30192441 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*466G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000350434] Chr19:29702246 [GRCh38]
Chr19:30193153 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*3520C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000387679] Chr19:29699192 [GRCh38]
Chr19:30190099 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.80A>T (p.His27Leu) single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000369500] Chr19:29708334 [GRCh38]
Chr19:30199241 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*1037A>G single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000308402] Chr19:29701675 [GRCh38]
Chr19:30192582 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.-11+120T>C single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000286596] Chr19:29715005 [GRCh38]
Chr19:30205912 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*3242C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000297905] Chr19:29699470 [GRCh38]
Chr19:30190377 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*3227_*3229del deletion Neurodegeneration with brain iron accumulation 4 [RCV000355064] Chr19:29699483..29699485 [GRCh38]
Chr19:30190390..30190392 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.*3294C>G single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000355778] Chr19:29699418 [GRCh38]
Chr19:30190325 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.-11+131C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000340501] Chr19:29714994 [GRCh38]
Chr19:30205901 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*1453C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000375038] Chr19:29701259 [GRCh38]
Chr19:30192166 [GRCh37]
Chr19:19q12		 uncertain significance
NM_001256047.1(C19orf12):c.*3833T>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000284086] Chr19:29698879 [GRCh38]
Chr19:30189786 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.204A>T (p.Gly68=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV000539152] Chr19:29702934 [GRCh38]
Chr19:30193841 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.161G>T (p.Gly54Val) single nucleotide variant Global developmental delay [RCV000454138]|Neurodegeneration with brain iron accumulation 4 [RCV001095481]|not provided [RCV000486662] Chr19:29702977 [GRCh38]
Chr19:30193884 [GRCh37]
Chr19:19q12		 likely pathogenic
GRCh37/hg19 19q12(chr19:29830628-31395657)x3 copy number gain See cases [RCV000447509] Chr19:29830628..31395657 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.-10-5C>T single nucleotide variant Hereditary spastic paraplegia 43 [RCV001079722]|not provided [RCV000863913]|not specified [RCV000421274] Chr19:29708428 [GRCh38]
Chr19:30199335 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.413A>G (p.Gln138Arg) single nucleotide variant Hereditary spastic paraplegia 43 [RCV000531812]|Hereditary spastic paraplegia [RCV001848752]|Neurodegeneration with brain iron accumulation 4 [RCV001125354]|not provided [RCV001530161]|not specified [RCV000436623] Chr19:29702725 [GRCh38]
Chr19:30193632 [GRCh37]
Chr19:19q12		 benign|likely benign
NM_031448.6(C19orf12):c.-11+178C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001128370]|not specified [RCV000430320] Chr19:29714947 [GRCh38]
Chr19:30205854 [GRCh37]
Chr19:19q12		 likely benign|uncertain significance
NM_031448.6(C19orf12):c.135G>A (p.Val45=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV003743714]|not specified [RCV000433974] Chr19:29708279 [GRCh38]
Chr19:30199186 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.161-2del deletion Hereditary spastic paraplegia 43 [RCV002527210]|Neurodegeneration with brain iron accumulation 4 [RCV000503280] Chr19:29702979 [GRCh38]
Chr19:30193886 [GRCh37]
Chr19:19q12		 pathogenic|likely pathogenic|uncertain significance
NM_031448.6(C19orf12):c.303G>A (p.Trp101Ter) single nucleotide variant Inborn genetic diseases [RCV004023363]|Neurodegeneration with brain iron accumulation 4 [RCV000504170] Chr19:29702835 [GRCh38]
Chr19:30193742 [GRCh37]
Chr19:19q12		 likely pathogenic|uncertain significance
NM_031448.6(C19orf12):c.177G>A (p.Gly59=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV001457687]|Neurodegeneration with brain iron accumulation 4 [RCV001126322]|not provided [RCV003411449]|not specified [RCV000602670] Chr19:29702961 [GRCh38]
Chr19:30193868 [GRCh37]
Chr19:19q12		 likely benign|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_031448.6(C19orf12):c.282dup (p.Ile95fs) duplication Hereditary spastic paraplegia 43 [RCV000538239] Chr19:29702855..29702856 [GRCh38]
Chr19:30193762..30193763 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.249C>T (p.Ala83=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV000868707]|not provided [RCV003420065]|not specified [RCV000612555] Chr19:29702889 [GRCh38]
Chr19:30193796 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.161-18C>T single nucleotide variant Hereditary spastic paraplegia 43 [RCV002232729]|not specified [RCV000613033] Chr19:29702995 [GRCh38]
Chr19:30193902 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.270del (p.Asn90fs) deletion Hereditary spastic paraplegia 43 [RCV000528225] Chr19:29702868 [GRCh38]
Chr19:30193775 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.123C>T (p.Val41=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV000646231] Chr19:29708291 [GRCh38]
Chr19:30199198 [GRCh37]
Chr19:19q12		 likely benign
GRCh37/hg19 19q12(chr19:30112378-31939682)x3 copy number gain See cases [RCV000512411] Chr19:30112378..31939682 [GRCh37]
Chr19:19q12		 likely pathogenic
GRCh37/hg19 19q11-12(chr19:28271107-31110233)x1 copy number loss See cases [RCV000512455] Chr19:28271107..31110233 [GRCh37]
Chr19:19q11-12		 likely pathogenic
GRCh37/hg19 19q12(chr19:29083484-31804809)x3 copy number gain not provided [RCV000684093] Chr19:29083484..31804809 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.170T>C (p.Val57Ala) single nucleotide variant Hereditary spastic paraplegia 43 [RCV000703222] Chr19:29702968 [GRCh38]
Chr19:30193875 [GRCh37]
Chr19:19q12		 uncertain significance
GRCh37/hg19 19q12(chr19:30165314-30199851)x1 copy number loss not provided [RCV000752655] Chr19:30165314..30199851 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.161-2338G>T single nucleotide variant not provided [RCV001732292] Chr19:29705315 [GRCh38]
Chr19:30196222 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.-38C>T single nucleotide variant not provided [RCV001732357] Chr19:29715152 [GRCh38]
Chr19:30206059 [GRCh37]
Chr19:19q12		 likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_031448.6(C19orf12):c.46T>C (p.Ser16Pro) single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000754628] Chr19:29708368 [GRCh38]
Chr19:30199275 [GRCh37]
Chr19:19q12		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_031448.6(C19orf12):c.161G>A (p.Gly54Glu) single nucleotide variant Hereditary spastic paraplegia 43 [RCV000821485]|Neurodegeneration with brain iron accumulation 4 [RCV000754614]|Neurodegeneration with brain iron accumulation [RCV002271579]|not provided [RCV001544960] Chr19:29702977 [GRCh38]
Chr19:30193884 [GRCh37]
Chr19:19q12		 pathogenic|likely pathogenic
NM_031448.6(C19orf12):c.-10G>C single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV000754615] Chr19:29708423 [GRCh38]
Chr19:30199330 [GRCh37]
Chr19:19q12		 pathogenic
GRCh37/hg19 19q12(chr19:30185697-30193721)x1 copy number loss not provided [RCV000740122] Chr19:30185697..30193721 [GRCh37]
Chr19:19q12		 benign
GRCh37/hg19 19q12(chr19:30185697-30198465)x1 copy number loss not provided [RCV000740123] Chr19:30185697..30198465 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.161-2548A>C single nucleotide variant not provided [RCV001611674] Chr19:29705525 [GRCh38]
Chr19:30196432 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.85G>C (p.Gly29Arg) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002241372]|Neurodegeneration with brain iron accumulation 4 [RCV001548765] Chr19:29708329 [GRCh38]
Chr19:30199236 [GRCh37]
Chr19:19q12		 likely pathogenic|uncertain significance
NM_031448.6(C19orf12):c.160+304G>T single nucleotide variant not provided [RCV001546582] Chr19:29707950 [GRCh38]
Chr19:30198857 [GRCh37]
Chr19:19q12		 likely benign
NC_000019.10:g.(?_29702692)_(29714949_?)del deletion Hereditary spastic paraplegia 43 [RCV001032149] Chr19:30193599..30205856 [GRCh37]
Chr19:19q12		 pathogenic|uncertain significance
NM_031448.6(C19orf12):c.165G>T (p.Gly55=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002235479] Chr19:29702973 [GRCh38]
Chr19:30193880 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.376G>A (p.Val126Met) single nucleotide variant Hereditary spastic paraplegia 43 [RCV001053477]|not provided [RCV002284459] Chr19:29702762 [GRCh38]
Chr19:30193669 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.-11+223G>A single nucleotide variant Hereditary spastic paraplegia 43 [RCV000795811] Chr19:29714902 [GRCh38]
Chr19:30205809 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.160+107C>T single nucleotide variant not provided [RCV000835496] Chr19:29708147 [GRCh38]
Chr19:30199054 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.371dup (p.Met124fs) duplication Abnormal central motor function [RCV001814233]|Neurodegeneration with brain iron accumulation 4 [RCV000784918]|not provided [RCV002469288] Chr19:29702766..29702767 [GRCh38]
Chr19:30193673..30193674 [GRCh37]
Chr19:19q12		 pathogenic|likely pathogenic
NM_031448.6(C19orf12):c.277G>A (p.Ala93Thr) single nucleotide variant Hereditary spastic paraplegia 43 [RCV000818324] Chr19:29702861 [GRCh38]
Chr19:30193768 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.232_233del (p.Met78fs) deletion Neurodegeneration with brain iron accumulation 4 [RCV000788048] Chr19:29702905..29702906 [GRCh38]
Chr19:30193812..30193813 [GRCh37]
Chr19:19q12		 pathogenic
NM_031448.6(C19orf12):c.194_204del (p.Met65fs) deletion Neurodegeneration with brain iron accumulation 4 [RCV000788049] Chr19:29702934..29702944 [GRCh38]
Chr19:30193841..30193851 [GRCh37]
Chr19:19q12		 pathogenic
NM_031448.6(C19orf12):c.306G>A (p.Thr102=) single nucleotide variant not provided [RCV000871829] Chr19:29702832 [GRCh38]
Chr19:30193739 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.165G>A (p.Gly55=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV000869606]|not specified [RCV002265905] Chr19:29702973 [GRCh38]
Chr19:30193880 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.211_212dup (p.Pro72fs) duplication Hereditary spastic paraplegia 43 [RCV001219285] Chr19:29702925..29702926 [GRCh38]
Chr19:30193832..30193833 [GRCh37]
Chr19:19q12		 likely pathogenic|uncertain significance
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33		 pathogenic
NM_031448.6(C19orf12):c.*3697C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001122244] Chr19:29699015 [GRCh38]
Chr19:30189922 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*3091A>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001128101] Chr19:29699621 [GRCh38]
Chr19:30190528 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*1870G>C single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001128195] Chr19:29700842 [GRCh38]
Chr19:30191749 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*1840G>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001128197] Chr19:29700872 [GRCh38]
Chr19:30191779 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*1413G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001125249] Chr19:29701299 [GRCh38]
Chr19:30192206 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.*1362G>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001125250] Chr19:29701350 [GRCh38]
Chr19:30192257 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.4(C19orf12):c.-171G>C single nucleotide variant not provided [RCV001567565] Chr19:29715285 [GRCh38]
Chr19:30206192 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.161-2534del deletion not provided [RCV001671196] Chr19:29705511 [GRCh38]
Chr19:30196418 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.*1897A>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001126111] Chr19:29700815 [GRCh38]
Chr19:30191722 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.113T>C (p.Met38Thr) single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001126323] Chr19:29708301 [GRCh38]
Chr19:30199208 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.234G>A (p.Met78Ile) single nucleotide variant Hereditary spastic paraplegia 43 [RCV001243141] Chr19:29702904 [GRCh38]
Chr19:30193811 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*3400T>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001125017] Chr19:29699312 [GRCh38]
Chr19:30190219 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*3357G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001125018] Chr19:29699355 [GRCh38]
Chr19:30190262 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*281C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001125352] Chr19:29702431 [GRCh38]
Chr19:30193338 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.161-2448C>G single nucleotide variant not provided [RCV001567615] Chr19:29705425 [GRCh38]
Chr19:30196332 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.161G>C (p.Gly54Ala) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002241377]|not provided [RCV001559088]|not specified [RCV003317513] Chr19:29702977 [GRCh38]
Chr19:30193884 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.161-64G>A single nucleotide variant not provided [RCV001546066] Chr19:29703041 [GRCh38]
Chr19:30193948 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.161-2164G>A single nucleotide variant not provided [RCV001619572] Chr19:29705141 [GRCh38]
Chr19:30196048 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.*2784C>G single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001128102] Chr19:29699928 [GRCh38]
Chr19:30190835 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.*2208G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001125141] Chr19:29700504 [GRCh38]
Chr19:30191411 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*1854G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001128196] Chr19:29700858 [GRCh38]
Chr19:30191765 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.*1827G>C single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001128198] Chr19:29700885 [GRCh38]
Chr19:30191792 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*1361C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001125251] Chr19:29701351 [GRCh38]
Chr19:30192258 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.*1203A>G single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001125253] Chr19:29701509 [GRCh38]
Chr19:30192416 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*2384C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001125139] Chr19:29700328 [GRCh38]
Chr19:30191235 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*1944A>G single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001126109] Chr19:29700768 [GRCh38]
Chr19:30191675 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*1940T>C single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001126110] Chr19:29700772 [GRCh38]
Chr19:30191679 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.371T>C (p.Met124Thr) single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001126320] Chr19:29702767 [GRCh38]
Chr19:30193674 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*3300C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001126003] Chr19:29699412 [GRCh38]
Chr19:30190319 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*3272C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001126004] Chr19:29699440 [GRCh38]
Chr19:30190347 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*2117G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001126107] Chr19:29700595 [GRCh38]
Chr19:30191502 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.*2778C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001122348] Chr19:29699934 [GRCh38]
Chr19:30190841 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.*2732G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001122349] Chr19:29699980 [GRCh38]
Chr19:30190887 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*1648C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001122466] Chr19:29701064 [GRCh38]
Chr19:30191971 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*579C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001122563] Chr19:29702133 [GRCh38]
Chr19:30193040 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.*554G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001122564] Chr19:29702158 [GRCh38]
Chr19:30193065 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*2671A>C single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001122351] Chr19:29700041 [GRCh38]
Chr19:30190948 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.161-2426del deletion not provided [RCV001684434] Chr19:29705403 [GRCh38]
Chr19:30196310 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.161-2425G>T single nucleotide variant not provided [RCV001650194] Chr19:29705402 [GRCh38]
Chr19:30196309 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.403dup (p.Ala135fs) duplication Spastic ataxia [RCV001647155] Chr19:29702734..29702735 [GRCh38]
Chr19:30193641..30193642 [GRCh37]
Chr19:19q12		 pathogenic
NM_031448.6(C19orf12):c.161-2427_161-2426del deletion not provided [RCV001714263] Chr19:29705403..29705404 [GRCh38]
Chr19:30196310..30196311 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.385G>A (p.Val129Ile) single nucleotide variant Hereditary spastic paraplegia 43 [RCV001069842] Chr19:29702753 [GRCh38]
Chr19:30193660 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.-135G>A single nucleotide variant not provided [RCV001583496] Chr19:29715249 [GRCh38]
Chr19:30206156 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.332T>C (p.Val111Ala) single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001644555] Chr19:29702806 [GRCh38]
Chr19:30193713 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.163G>C (p.Gly55Arg) single nucleotide variant Hereditary spastic paraplegia 43 [RCV001060989] Chr19:29702975 [GRCh38]
Chr19:30193882 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*3352C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001125019] Chr19:29699360 [GRCh38]
Chr19:30190267 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*3518C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001122245] Chr19:29699194 [GRCh38]
Chr19:30190101 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*2692C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001122350] Chr19:29700020 [GRCh38]
Chr19:30190927 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.*1666G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001122465] Chr19:29701046 [GRCh38]
Chr19:30191953 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.*3314C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001126002] Chr19:29699398 [GRCh38]
Chr19:30190305 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*2207C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001126106] Chr19:29700505 [GRCh38]
Chr19:30191412 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*2058T>C single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001126108] Chr19:29700654 [GRCh38]
Chr19:30191561 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*1111A>G single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001126219] Chr19:29701601 [GRCh38]
Chr19:30192508 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.-1G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001128369] Chr19:29708414 [GRCh38]
Chr19:30199321 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*2328G>A single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001125140] Chr19:29700384 [GRCh38]
Chr19:30191291 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*1226C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001125252] Chr19:29701486 [GRCh38]
Chr19:30192393 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.241C>A (p.Pro81Thr) single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001095768] Chr19:29702897 [GRCh38]
Chr19:30193804 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*5C>T single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV001125353] Chr19:29702707 [GRCh38]
Chr19:30193614 [GRCh37]
Chr19:19q12		 uncertain significance
GRCh37/hg19 19q12(chr19:29739728-31053524)x3 copy number gain not provided [RCV001259935] Chr19:29739728..31053524 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.240_241dup (p.Pro81fs) duplication Neurodegeneration with brain iron accumulation 4 [RCV001261521] Chr19:29702896..29702897 [GRCh38]
Chr19:30193803..30193804 [GRCh37]
Chr19:19q12		 likely pathogenic
NM_031448.6(C19orf12):c.26T>G (p.Met9Arg) single nucleotide variant not provided [RCV001268742] Chr19:29708388 [GRCh38]
Chr19:30199295 [GRCh37]
Chr19:19q12		 likely pathogenic
NM_031448.6(C19orf12):c.326C>T (p.Ala109Val) single nucleotide variant Hereditary spastic paraplegia 43 [RCV001305700] Chr19:29702812 [GRCh38]
Chr19:30193719 [GRCh37]
Chr19:19q12		 uncertain significance
NC_000019.9:g.(?_30193609)_(30205846_?)dup duplication Hereditary spastic paraplegia 43 [RCV001313503] Chr19:30193609..30205846 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.312C>T (p.Ala104=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV001421551] Chr19:29702826 [GRCh38]
Chr19:30193733 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.24C>T (p.Ile8=) single nucleotide variant not provided [RCV001311508] Chr19:29708390 [GRCh38]
Chr19:30199297 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.384C>T (p.Tyr128=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV001431316] Chr19:29702754 [GRCh38]
Chr19:30193661 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.161-2429_161-2426del deletion not provided [RCV001610267] Chr19:29705403..29705406 [GRCh38]
Chr19:30196310..30196313 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.161-2548dup duplication not provided [RCV001655268] Chr19:29705510..29705511 [GRCh38]
Chr19:30196417..30196418 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.327G>A (p.Ala109=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV001474099]|not provided [RCV001565630] Chr19:29702811 [GRCh38]
Chr19:30193718 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.161-2428_161-2426del deletion not provided [RCV001716184] Chr19:29705403..29705405 [GRCh38]
Chr19:30196310..30196312 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.309C>T (p.Asp103=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002237728] Chr19:29702829 [GRCh38]
Chr19:30193736 [GRCh37]
Chr19:19q12		 likely benign
NM_001031726.3(C19orf12):c.199dup duplication Hereditary spastic paraplegia 43 [RCV002237737]|not provided [RCV002293552] Chr19:29702971..29702972 [GRCh38]
Chr19:30193878..30193879 [GRCh37]
Chr19:19q12		 likely pathogenic|uncertain significance
NM_031448.6(C19orf12):c.160+9A>G single nucleotide variant Hereditary spastic paraplegia 43 [RCV002237738] Chr19:29708245 [GRCh38]
Chr19:30199152 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.97C>T (p.Leu33=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002237742] Chr19:29708317 [GRCh38]
Chr19:30199224 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.4A>G (p.Thr2Ala) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002237745] Chr19:29708410 [GRCh38]
Chr19:30199317 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.2T>C (p.Met1Thr) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002237746] Chr19:29708412 [GRCh38]
Chr19:30199319 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.401G>A (p.Arg134Gln) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002239974] Chr19:29702737 [GRCh38]
Chr19:30193644 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.400C>T (p.Arg134Trp) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002239975] Chr19:29702738 [GRCh38]
Chr19:30193645 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.396G>A (p.Glu132=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002239976] Chr19:29702742 [GRCh38]
Chr19:30193649 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.161-17G>A single nucleotide variant Hereditary spastic paraplegia 43 [RCV002239977] Chr19:29702994 [GRCh38]
Chr19:30193901 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.-7C>T single nucleotide variant Hereditary spastic paraplegia 43 [RCV002239979] Chr19:29708420 [GRCh38]
Chr19:30199327 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.-11+204G>A single nucleotide variant Hereditary spastic paraplegia 43 [RCV002239980] Chr19:29714921 [GRCh38]
Chr19:30205828 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.268A>G (p.Asn90Asp) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002539775]|Neurodegeneration with brain iron accumulation 4 [RCV001725849] Chr19:29702870 [GRCh38]
Chr19:30193777 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.4(C19orf12):c.-385A>G single nucleotide variant not provided [RCV001732269] Chr19:29715499 [GRCh38]
Chr19:30206406 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.161-2289G>A single nucleotide variant not provided [RCV001732729] Chr19:29705266 [GRCh38]
Chr19:30196173 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.146C>T (p.Pro49Leu) single nucleotide variant not provided [RCV001762992] Chr19:29708268 [GRCh38]
Chr19:30199175 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.408G>A (p.Glu136=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002239973] Chr19:29702730 [GRCh38]
Chr19:30193637 [GRCh37]
Chr19:19q12		 likely benign
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3 copy number gain Specific learning disability [RCV001801194] Chr19:19546923..41313229 [GRCh37]
Chr19:19p13.11-q13.2		 pathogenic
NM_031448.6(C19orf12):c.214C>T (p.Pro72Ser) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002236177]|not provided [RCV001816235] Chr19:29702924 [GRCh38]
Chr19:30193831 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.161-2A>C single nucleotide variant not provided [RCV001780695] Chr19:29702979 [GRCh38]
Chr19:30193886 [GRCh37]
Chr19:19q12		 likely pathogenic
NM_031448.6(C19orf12):c.152T>C (p.Leu51Pro) single nucleotide variant Hereditary spastic paraplegia 43 [RCV001806376] Chr19:29708262 [GRCh38]
Chr19:30199169 [GRCh37]
Chr19:19q12		 likely pathogenic
NM_031448.6(C19orf12):c.166del deletion Hereditary spastic paraplegia 43 [RCV002236027]|Hereditary spastic paraplegia [RCV001848364]|Neurodegeneration with brain iron accumulation 4 [RCV004770223]|not provided [RCV002473307] Chr19:29702972 [GRCh38]
Chr19:30193879 [GRCh37]
Chr19:19q12		 pathogenic|likely pathogenic
NM_031448.6(C19orf12):c.290G>A (p.Arg97Lys) single nucleotide variant Hereditary spastic paraplegia [RCV001848366] Chr19:29702848 [GRCh38]
Chr19:30193755 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.*3C>T single nucleotide variant Hereditary spastic paraplegia [RCV001848363] Chr19:29702709 [GRCh38]
Chr19:30193616 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.180G>C (p.Leu60=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002543394]|Hereditary spastic paraplegia [RCV001848365] Chr19:29702958 [GRCh38]
Chr19:30193865 [GRCh37]
Chr19:19q12		 likely benign|uncertain significance
NM_031448.6(C19orf12):c.59A>G (p.Lys20Arg) single nucleotide variant Hereditary spastic paraplegia [RCV001848367] Chr19:29708355 [GRCh38]
Chr19:30199262 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.294C>G (p.His98Gln) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002237730] Chr19:29702844 [GRCh38]
Chr19:30193751 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.279del (p.Ala94fs) deletion Hereditary spastic paraplegia 43 [RCV002237731] Chr19:29702859 [GRCh38]
Chr19:30193766 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.276C>T (p.Ala92=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002237732] Chr19:29702862 [GRCh38]
Chr19:30193769 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.221C>G (p.Pro74Arg) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002237734]|not provided [RCV003883795] Chr19:29702917 [GRCh38]
Chr19:30193824 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.171C>T (p.Val57=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002237735]|not provided [RCV004703263] Chr19:29702967 [GRCh38]
Chr19:30193874 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.169G>C (p.Val57Leu) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002237736] Chr19:29702969 [GRCh38]
Chr19:30193876 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.-6G>A single nucleotide variant Hereditary spastic paraplegia 43 [RCV002237747] Chr19:29708419 [GRCh38]
Chr19:30199326 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.343G>A (p.Glu115Lys) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002237195]|not provided [RCV002226086] Chr19:29702795 [GRCh38]
Chr19:30193702 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.406G>A (p.Glu136Lys) single nucleotide variant Hereditary spastic paraplegia 43 [RCV003110367] Chr19:29702732 [GRCh38]
Chr19:30193639 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.-11+214C>T single nucleotide variant Hereditary spastic paraplegia 43 [RCV003115543] Chr19:29714911 [GRCh38]
Chr19:30205818 [GRCh37]
Chr19:19q12		 uncertain significance
NC_000019.9:g.(?_30205794)_(30205836_?)del deletion Hereditary spastic paraplegia 43 [RCV002237678] Chr19:30205794..30205836 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.305C>T (p.Thr102Met) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002237729] Chr19:29702833 [GRCh38]
Chr19:30193740 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.240G>T (p.Leu80=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002237733] Chr19:29702898 [GRCh38]
Chr19:30193805 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.160+8C>T single nucleotide variant Hereditary spastic paraplegia 43 [RCV002237739] Chr19:29708246 [GRCh38]
Chr19:30199153 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.154G>A (p.Ala52Thr) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002237740] Chr19:29708260 [GRCh38]
Chr19:30199167 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.127G>A (p.Gly43Ser) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002237741] Chr19:29708287 [GRCh38]
Chr19:30199194 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.83C>T (p.Ser28Phe) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002237743]|not specified [RCV002239978] Chr19:29708331 [GRCh38]
Chr19:30199238 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.68C>A (p.Ala23Glu) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002237744] Chr19:29708346 [GRCh38]
Chr19:30199253 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.-10-12_-10-10del deletion not provided [RCV003235912] Chr19:29708433..29708435 [GRCh38]
Chr19:30199340..30199342 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.200G>A (p.Ser67Asn) single nucleotide variant not provided [RCV002511928] Chr19:29702938 [GRCh38]
Chr19:30193845 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.342C>T (p.Ser114=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002993534] Chr19:29702796 [GRCh38]
Chr19:30193703 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.244C>G (p.Pro82Ala) single nucleotide variant Inborn genetic diseases [RCV002708058] Chr19:29702894 [GRCh38]
Chr19:30193801 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.394G>C (p.Glu132Gln) single nucleotide variant Hereditary spastic paraplegia 43 [RCV003079568] Chr19:29702744 [GRCh38]
Chr19:30193651 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.334A>G (p.Met112Val) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002932151] Chr19:29702804 [GRCh38]
Chr19:30193711 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.215C>A (p.Pro72Gln) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002894968] Chr19:29702923 [GRCh38]
Chr19:30193830 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.161-13C>T single nucleotide variant Hereditary spastic paraplegia 43 [RCV002711252] Chr19:29702990 [GRCh38]
Chr19:30193897 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.157G>A (p.Val53Ile) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002800973] Chr19:29708257 [GRCh38]
Chr19:30199164 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.-11+237A>G single nucleotide variant Hereditary spastic paraplegia 43 [RCV002872628] Chr19:29714888 [GRCh38]
Chr19:30205795 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.356A>G (p.Gln119Arg) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002852806] Chr19:29702782 [GRCh38]
Chr19:30193689 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.128G>C (p.Gly43Ala) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002958121] Chr19:29708286 [GRCh38]
Chr19:30199193 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.-11+197T>G single nucleotide variant Hereditary spastic paraplegia 43 [RCV002872611] Chr19:29714928 [GRCh38]
Chr19:30205835 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.347C>A (p.Ala116Asp) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002628903] Chr19:29702791 [GRCh38]
Chr19:30193698 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.57del (p.Lys20fs) deletion Hereditary spastic paraplegia 43 [RCV002933494] Chr19:29708357 [GRCh38]
Chr19:30199264 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.189C>T (p.Ala63=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002676216] Chr19:29702949 [GRCh38]
Chr19:30193856 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.147G>A (p.Pro49=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV003011399] Chr19:29708267 [GRCh38]
Chr19:30199174 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.304A>T (p.Thr102Ser) single nucleotide variant Hereditary spastic paraplegia 43 [RCV002634238] Chr19:29702834 [GRCh38]
Chr19:30193741 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.412C>A (p.Gln138Lys) single nucleotide variant Hereditary spastic paraplegia 43 [RCV003070107] Chr19:29702726 [GRCh38]
Chr19:30193633 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.415T>C (p.Tyr139His) single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV003154182] Chr19:29702723 [GRCh38]
Chr19:30193630 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.149G>A (p.Gly50Glu) single nucleotide variant not provided [RCV003143863] Chr19:29708265 [GRCh38]
Chr19:30199172 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.210del (p.Phe70fs) deletion not provided [RCV003139531] Chr19:29702928 [GRCh38]
Chr19:30193835 [GRCh37]
Chr19:19q12		 likely pathogenic
NM_031448.6(C19orf12):c.161_170dup (p.Leu60fs) duplication Hereditary spastic paraplegia 43 [RCV003448884] Chr19:29702967..29702968 [GRCh38]
Chr19:30193874..30193875 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.267del (p.Phe89fs) deletion C19orf12-related disorder [RCV003984359]|Neurodegeneration with brain iron accumulation [RCV003324412] Chr19:29702871 [GRCh38]
Chr19:30193778 [GRCh37]
Chr19:19q12		 pathogenic|likely pathogenic
NM_031448.6(C19orf12):c.244C>A (p.Pro82Thr) single nucleotide variant Hereditary spastic paraplegia 43 [RCV003581925]|Neurodegeneration with brain iron accumulation 4 [RCV003328134] Chr19:29702894 [GRCh38]
Chr19:30193801 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.157G>C (p.Val53Leu) single nucleotide variant Hereditary spastic paraplegia 43 [RCV003340747] Chr19:29708257 [GRCh38]
Chr19:30199164 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.36_40del (p.Cys13fs) deletion Hereditary spastic paraplegia 43 [RCV003340872] Chr19:29708374..29708378 [GRCh38]
Chr19:30199281..30199285 [GRCh37]
Chr19:19q12		 likely pathogenic
NM_031448.6(C19orf12):c.118T>G (p.Phe40Val) single nucleotide variant Neurodegeneration with brain iron accumulation 4 [RCV003338016] Chr19:29708296 [GRCh38]
Chr19:30199203 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.105_106del (p.Ala37fs) deletion Neurodegeneration with brain iron accumulation 4 [RCV003335811]|not provided [RCV004721179] Chr19:29708308..29708309 [GRCh38]
Chr19:30199215..30199216 [GRCh37]
Chr19:19q12		 pathogenic|likely pathogenic
NC_000019.9:g.(?_30189943)_(30205968_?)del deletion not specified [RCV003479617] Chr19:30189943..30205968 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.207G>C (p.Gln69His) single nucleotide variant not provided [RCV003443685] Chr19:29702931 [GRCh38]
Chr19:30193838 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.10A>G (p.Met4Val) single nucleotide variant Hereditary spastic paraplegia 43 [RCV003582834] Chr19:29708404 [GRCh38]
Chr19:30199311 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.405C>T (p.Ala135=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV003851299] Chr19:29702733 [GRCh38]
Chr19:30193640 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.270C>G (p.Asn90Lys) single nucleotide variant Hereditary spastic paraplegia 43 [RCV003743339] Chr19:29702868 [GRCh38]
Chr19:30193775 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.153C>T (p.Leu51=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV003745624] Chr19:29708261 [GRCh38]
Chr19:30199168 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.-11+199G>A single nucleotide variant Hereditary spastic paraplegia 43 [RCV003745057] Chr19:29714926 [GRCh38]
Chr19:30205833 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.72T>C (p.Ala24=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV003743215] Chr19:29708342 [GRCh38]
Chr19:30199249 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.161-9G>A single nucleotide variant Hereditary spastic paraplegia 43 [RCV003582981] Chr19:29702986 [GRCh38]
Chr19:30193893 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.174G>A (p.Gly58=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV003743370] Chr19:29702964 [GRCh38]
Chr19:30193871 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.120C>T (p.Phe40=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV003743380] Chr19:29708294 [GRCh38]
Chr19:30199201 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.1A>G (p.Met1Val) single nucleotide variant Hereditary spastic paraplegia 43 [RCV003581341] Chr19:29708413 [GRCh38]
Chr19:30199320 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.102C>T (p.Val34=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV003745275] Chr19:29708312 [GRCh38]
Chr19:30199219 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.141C>A (p.Gly47=) single nucleotide variant Hereditary spastic paraplegia 43 [RCV003743106] Chr19:29708273 [GRCh38]
Chr19:30199180 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.7A>G (p.Ile3Val) single nucleotide variant C19orf12-related disorder [RCV004731576]|Hereditary spastic paraplegia 43 [RCV003844395] Chr19:29708407 [GRCh38]
Chr19:30199314 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.277G>T (p.Ala93Ser) single nucleotide variant Hereditary spastic paraplegia 43 [RCV003822493] Chr19:29702861 [GRCh38]
Chr19:30193768 [GRCh37]
Chr19:19q12		 uncertain significance
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3 copy number gain not specified [RCV003986115] Chr19:28271146..41508851 [GRCh37]
Chr19:19q11-13.2		 pathogenic
NM_031448.6(C19orf12):c.286A>G (p.Ile96Val) single nucleotide variant Hereditary spastic paraplegia 43 [RCV003841980] Chr19:29702852 [GRCh38]
Chr19:30193759 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.6T>C (p.Thr2=) single nucleotide variant C19orf12-related disorder [RCV003901423] Chr19:29708408 [GRCh38]
Chr19:30199315 [GRCh37]
Chr19:19q12		 likely benign
NM_031448.6(C19orf12):c.61del (p.Lys20_Met21insTer) deletion not provided [RCV004593529] Chr19:29708353 [GRCh38]
Chr19:30199260 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.394G>T (p.Glu132Ter) single nucleotide variant not provided [RCV004588784] Chr19:29702744 [GRCh38]
Chr19:30193651 [GRCh37]
Chr19:19q12		 uncertain significance
NM_031448.6(C19orf12):c.-10-335A>G single nucleotide variant not specified [RCV004598446] Chr19:29708758 [GRCh38]
Chr19:30199665 [GRCh37]
Chr19:19q12		 benign
NM_031448.6(C19orf12):c.12G>A (p.Met4Ile) single nucleotide variant not provided [RCV004772199] Chr19:29708402 [GRCh38]
Chr19:30199309 [GRCh37]
Chr19:19q12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3318
Count of miRNA genes:920
Interacting mature miRNAs:1089
Transcripts:ENST00000323670, ENST00000342680, ENST00000392275, ENST00000392276, ENST00000392278, ENST00000591243, ENST00000592153
Prediction methods:Microtar, Miranda, Rnahybrid
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
1300034BP50_HBlood pressure QTL 50 (human)2.10.00094Blood pressuresystolic191108946337089463Human
406937933GWAS586909_Hbreast density QTL GWAS586909 (human)0.000006breast density192970657229706573Human

Markers in Region
STS-N21279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371930,190,544 - 30,190,728UniSTSGRCh37
Build 361934,882,384 - 34,882,568RGDNCBI36
Celera1926,888,744 - 26,888,928RGD
Cytogenetic Map19q12UniSTS
HuRef1926,702,585 - 26,702,769UniSTS
GeneMap99-GB4 RH Map19180.63UniSTS
RH76650  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371930,190,529 - 30,190,709UniSTSGRCh37
Build 361934,882,369 - 34,882,549RGDNCBI36
Celera1926,888,729 - 26,888,909RGD
Cytogenetic Map19q12UniSTS
HuRef1926,702,570 - 26,702,750UniSTS
RH65823  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371930,190,528 - 30,190,683UniSTSGRCh37
Build 361934,882,368 - 34,882,523RGDNCBI36
Celera1926,888,728 - 26,888,883RGD
Cytogenetic Map19q12UniSTS
HuRef1926,702,569 - 26,702,724UniSTS
SGC34217  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371930,190,824 - 30,190,948UniSTSGRCh37
Build 361934,882,664 - 34,882,788RGDNCBI36
Celera1926,889,024 - 26,889,148RGD
Cytogenetic Map19q12UniSTS
HuRef1926,702,866 - 26,702,990UniSTS
GeneMap99-GB4 RH Map19159.72UniSTS
Whitehead-RH Map19214.1UniSTS
NCBI RH Map19279.3UniSTS
RH65947  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371930,192,846 - 30,192,972UniSTSGRCh37
Build 361934,884,686 - 34,884,812RGDNCBI36
Celera1926,891,046 - 26,891,172RGD
Cytogenetic Map19q12UniSTS
GeneMap99-GB4 RH Map19157.78UniSTS
D19S1092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371930,192,655 - 30,192,865UniSTSGRCh37
Build 361934,884,495 - 34,884,705RGDNCBI36
Celera1926,890,855 - 26,891,065RGD
Cytogenetic Map19q12UniSTS
HuRef1926,704,697 - 26,704,907UniSTS
Stanford-G3 RH Map191111.0UniSTS
NCBI RH Map19279.7UniSTS
GeneMap99-G3 RH Map191122.0UniSTS
RH65212  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371930,192,153 - 30,192,279UniSTSGRCh37
Build 361934,883,993 - 34,884,119RGDNCBI36
Celera1926,890,353 - 26,890,479RGD
Cytogenetic Map19q12UniSTS
HuRef1926,704,195 - 26,704,321UniSTS
GeneMap99-GB4 RH Map19179.72UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
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Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_031970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001031726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG720088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG722048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI753584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA064969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA189248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA348401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA708831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB541407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK326903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000323670   ⟹   ENSP00000313332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1929,698,937 - 29,715,261 (-)Ensembl
Ensembl Acc Id: ENST00000342680   ⟹   ENSP00000345497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1929,702,842 - 29,715,275 (-)Ensembl
Ensembl Acc Id: ENST00000392275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1929,702,341 - 29,715,457 (-)Ensembl
Ensembl Acc Id: ENST00000392276   ⟹   ENSP00000376102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1929,701,163 - 29,715,221 (-)Ensembl
Ensembl Acc Id: ENST00000392278   ⟹   ENSP00000376103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1929,702,403 - 29,715,056 (-)Ensembl
Ensembl Acc Id: ENST00000591243   ⟹   ENSP00000467516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1929,702,819 - 29,708,640 (-)Ensembl
Ensembl Acc Id: ENST00000592153   ⟹   ENSP00000467117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1929,701,689 - 29,715,224 (-)Ensembl
Ensembl Acc Id: ENST00000614091   ⟹   ENSP00000482097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1929,702,789 - 29,715,789 (-)Ensembl
Ensembl Acc Id: ENST00000623113   ⟹   ENSP00000485413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1929,699,576 - 29,715,060 (-)Ensembl
RefSeq Acc Id: NM_001031726   ⟹   NP_001026896
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381929,699,037 - 29,715,060 (-)NCBI
GRCh371930,189,793 - 30,206,696 (-)NCBI
Build 361934,881,633 - 34,897,803 (-)NCBI Archive
Celera1926,887,993 - 26,904,652 (-)RGD
HuRef1926,701,836 - 26,718,525 (-)NCBI
CHM1_11930,191,134 - 30,207,313 (-)NCBI
T2T-CHM13v2.01932,224,779 - 32,240,800 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001256046   ⟹   NP_001242975
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381929,698,937 - 29,715,261 (-)NCBI
GRCh371930,189,793 - 30,206,696 (-)NCBI
HuRef1926,701,836 - 26,718,525 (-)NCBI
CHM1_11930,191,134 - 30,207,802 (-)NCBI
T2T-CHM13v2.01932,224,679 - 32,241,001 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001256047   ⟹   NP_001242976
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381929,698,937 - 29,715,789 (-)NCBI
GRCh371930,189,793 - 30,206,696 (-)NCBI
HuRef1926,701,836 - 26,718,525 (-)NCBI
CHM1_11930,191,134 - 30,208,046 (-)NCBI
T2T-CHM13v2.01932,224,679 - 32,241,529 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282929   ⟹   NP_001269858
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381929,698,886 - 29,715,056 (-)NCBI
HuRef1926,701,836 - 26,718,525 (-)NCBI
CHM1_11930,191,134 - 30,207,313 (-)NCBI
T2T-CHM13v2.01932,224,628 - 32,240,796 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282930   ⟹   NP_001269859
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381929,698,937 - 29,715,261 (-)NCBI
HuRef1926,701,836 - 26,718,525 (-)NCBI
CHM1_11930,191,134 - 30,207,802 (-)NCBI
T2T-CHM13v2.01932,224,679 - 32,241,001 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282931   ⟹   NP_001269860
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381929,698,937 - 29,715,261 (-)NCBI
HuRef1926,701,836 - 26,718,525 (-)NCBI
CHM1_11930,191,134 - 30,207,802 (-)NCBI
T2T-CHM13v2.01932,224,679 - 32,241,001 (-)NCBI
Sequence:
RefSeq Acc Id: NM_031448   ⟹   NP_113636
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381929,698,937 - 29,715,261 (-)NCBI
GRCh371930,189,793 - 30,206,696 (-)NCBI
Build 361934,881,633 - 34,898,292 (-)NCBI Archive
Celera1926,887,993 - 26,904,652 (-)RGD
HuRef1926,701,836 - 26,718,525 (-)NCBI
CHM1_11930,191,134 - 30,207,802 (-)NCBI
T2T-CHM13v2.01932,224,679 - 32,241,001 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024451734   ⟹   XP_024307502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381929,698,886 - 29,714,632 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024451735   ⟹   XP_024307503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381929,698,886 - 29,714,632 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047439496   ⟹   XP_047295452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381929,698,886 - 29,714,632 (-)NCBI
RefSeq Acc Id: XM_047439497   ⟹   XP_047295453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381929,698,886 - 29,708,640 (-)NCBI
RefSeq Acc Id: XM_054322294   ⟹   XP_054178269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01932,224,628 - 32,240,427 (-)NCBI
RefSeq Acc Id: XM_054322295   ⟹   XP_054178270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01932,224,628 - 32,240,427 (-)NCBI
RefSeq Acc Id: XM_054322296   ⟹   XP_054178271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01932,224,628 - 32,240,427 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001026896 (Get FASTA)   NCBI Sequence Viewer  
  NP_001242975 (Get FASTA)   NCBI Sequence Viewer  
  NP_001242976 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269858 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269859 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269860 (Get FASTA)   NCBI Sequence Viewer  
  NP_113636 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307502 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307503 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295452 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295453 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178269 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178270 (Get FASTA)   NCBI Sequence Viewer  
  XP_054178271 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH04957 (Get FASTA)   NCBI Sequence Viewer  
  AAH09946 (Get FASTA)   NCBI Sequence Viewer  
  AAH17211 (Get FASTA)   NCBI Sequence Viewer  
  AAH63518 (Get FASTA)   NCBI Sequence Viewer  
  BAG51878 (Get FASTA)   NCBI Sequence Viewer  
  CAB82403 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000313332
  ENSP00000313332.9
  ENSP00000345497.5
  ENSP00000376102
  ENSP00000376102.1
  ENSP00000467117
  ENSP00000467117.1
  ENSP00000467516.1
  ENSP00000482097
  ENSP00000482097.2
  ENSP00000485413
  ENSP00000485413.2
  ENSP00000507573
  ENSP00000507573.1
GenBank Protein Q9NSK7 (Get FASTA)   NCBI Sequence Viewer  
  UYR57982 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_113636   ⟸   NM_031448
- Peptide Label: isoform 2
- UniProtKB: Q9BSL7 (UniProtKB/Swiss-Prot),   Q6P4C5 (UniProtKB/Swiss-Prot),   Q0D2Q0 (UniProtKB/Swiss-Prot),   B3KQ16 (UniProtKB/Swiss-Prot),   Q9NSK7 (UniProtKB/Swiss-Prot),   A0A8C8PZE2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001026896   ⟸   NM_001031726
- Peptide Label: isoform 2
- UniProtKB: Q9NSK7 (UniProtKB/Swiss-Prot),   Q9BSL7 (UniProtKB/Swiss-Prot),   Q6P4C5 (UniProtKB/Swiss-Prot),   Q0D2Q0 (UniProtKB/Swiss-Prot),   B3KQ16 (UniProtKB/Swiss-Prot),   A0A8C8PZE2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001242976   ⟸   NM_001256047
- Peptide Label: isoform 2
- UniProtKB: Q9BSL7 (UniProtKB/Swiss-Prot),   Q6P4C5 (UniProtKB/Swiss-Prot),   Q0D2Q0 (UniProtKB/Swiss-Prot),   B3KQ16 (UniProtKB/Swiss-Prot),   Q9NSK7 (UniProtKB/Swiss-Prot),   A0A8C8PZE2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001242975   ⟸   NM_001256046
- Peptide Label: isoform 3
- UniProtKB: K7EPS8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269859   ⟸   NM_001282930
- Peptide Label: isoform 4
- UniProtKB: Q9NSK7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269860   ⟸   NM_001282931
- Peptide Label: isoform 4
- UniProtKB: Q9NSK7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269858   ⟸   NM_001282929
- Peptide Label: isoform 4
- UniProtKB: Q9NSK7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024307503   ⟸   XM_024451735
- Peptide Label: isoform X2
- UniProtKB: Q9NSK7 (UniProtKB/Swiss-Prot),   Q9BSL7 (UniProtKB/Swiss-Prot),   Q6P4C5 (UniProtKB/Swiss-Prot),   Q0D2Q0 (UniProtKB/Swiss-Prot),   B3KQ16 (UniProtKB/Swiss-Prot),   A0A8C8PZE2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024307502   ⟸   XM_024451734
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000485413   ⟸   ENST00000623113
Ensembl Acc Id: ENSP00000313332   ⟸   ENST00000323670
Ensembl Acc Id: ENSP00000482097   ⟸   ENST00000614091
Ensembl Acc Id: ENSP00000376103   ⟸   ENST00000392278
Ensembl Acc Id: ENSP00000376102   ⟸   ENST00000392276
Ensembl Acc Id: ENSP00000467516   ⟸   ENST00000591243
Ensembl Acc Id: ENSP00000345497   ⟸   ENST00000342680
Ensembl Acc Id: ENSP00000467117   ⟸   ENST00000592153
RefSeq Acc Id: XP_047295452   ⟸   XM_047439496
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047295453   ⟸   XM_047439497
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054178269   ⟸   XM_054322294
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054178270   ⟸   XM_054322295
- Peptide Label: isoform X2
- UniProtKB: Q9NSK7 (UniProtKB/Swiss-Prot),   Q9BSL7 (UniProtKB/Swiss-Prot),   Q6P4C5 (UniProtKB/Swiss-Prot),   Q0D2Q0 (UniProtKB/Swiss-Prot),   B3KQ16 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054178271   ⟸   XM_054322296
- Peptide Label: isoform X3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NSK7-F1-model_v2 AlphaFold Q9NSK7 1-152 view protein structure

Promoters
RGD ID:7239359
Promoter ID:EPDNEW_H25426
Type:initiation region
Name:C19orf12_2
Description:chromosome 19 open reading frame 12
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25427  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381929,708,640 - 29,708,700EPDNEW
RGD ID:7239365
Promoter ID:EPDNEW_H25427
Type:initiation region
Name:C19orf12_1
Description:chromosome 19 open reading frame 12
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25426  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381929,715,261 - 29,715,321EPDNEW
RGD ID:6795456
Promoter ID:HG_KWN:29500
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000342680,   ENST00000392275,   NM_001031726,   NM_031448,   UC002NSL.1,   UC002NSM.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361934,897,801 - 34,899,292 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25443 AgrOrtholog
COSMIC C19orf12 COSMIC
Ensembl Genes ENSG00000131943 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000323670 ENTREZGENE
  ENST00000323670.14 UniProtKB/Swiss-Prot
  ENST00000342680.5 UniProtKB/TrEMBL
  ENST00000392275 ENTREZGENE
  ENST00000392275.1 UniProtKB/Swiss-Prot
  ENST00000392276 ENTREZGENE
  ENST00000392276.1 UniProtKB/Swiss-Prot
  ENST00000591243.1 UniProtKB/TrEMBL
  ENST00000592153 ENTREZGENE
  ENST00000592153.5 UniProtKB/Swiss-Prot
  ENST00000614091 ENTREZGENE
  ENST00000614091.5 UniProtKB/TrEMBL
  ENST00000623113 ENTREZGENE
  ENST00000623113.3 UniProtKB/Swiss-Prot
GTEx ENSG00000131943 GTEx
HGNC ID HGNC:25443 ENTREZGENE
Human Proteome Map C19orf12 Human Proteome Map
InterPro C19orf12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:83636 UniProtKB/Swiss-Prot
NCBI Gene 83636 ENTREZGENE
OMIM 614297 OMIM
PANTHER PROTEIN C19ORF12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR31493 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam C19orf12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134981038 PharmGKB
UniProt A0A8C8PZE2 ENTREZGENE, UniProtKB/TrEMBL
  B3KQ16 ENTREZGENE
  CS012_HUMAN UniProtKB/Swiss-Prot
  F8W6J3_HUMAN UniProtKB/TrEMBL
  K7EPS8 ENTREZGENE, UniProtKB/TrEMBL
  Q0D2Q0 ENTREZGENE
  Q6P4C5 ENTREZGENE
  Q9BSL7 ENTREZGENE
  Q9NSK7 ENTREZGENE
UniProt Secondary B3KQ16 UniProtKB/Swiss-Prot
  Q0D2Q0 UniProtKB/Swiss-Prot
  Q6P4C5 UniProtKB/Swiss-Prot
  Q9BSL7 UniProtKB/Swiss-Prot