POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)) Homo sapiens
Analyze
Symbol: POMGNT1
Name: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
RGD ID: 1601994
HGNC Page HGNC
Description: Exhibits beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity and manganese ion binding activity. Involved in O-glycan processing. Localizes to integral component of Golgi membrane. Implicated in lissencephaly; muscular dystrophy (multiple); and retinitis pigmentosa.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp761B182; FLJ20277; GnT I.2; gnT-I.2; GNTI.2; LGMD2O; LGMDR15; MDDGA3; MDDGB3; MDDGC3; MEB; MGAT1.2; muscle-eye-brain disease; protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase; protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1; RP76; UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl146,188,682 - 46,220,305 (-)EnsemblGRCh38hg38GRCh38
GRCh38146,188,683 - 46,220,305 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37146,654,355 - 46,685,977 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36146,426,940 - 46,436,708 (-)NCBINCBI36hg18NCBI36
Celera144,941,643 - 44,973,721 (-)NCBI
Cytogenetic Map1p34.1NCBI
HuRef144,769,330 - 44,801,277 (-)NCBIHuRef
CHM1_1146,771,477 - 46,803,118 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

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

Human Phenotype
Abnormal aldolase level  (IAGP)
Abnormal circulating creatine kinase concentration  (IAGP)
Abnormal electroretinogram  (IAGP)
Abnormal lactate dehydrogenase level  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormal retinal vascular morphology  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormality iris morphology  (IAGP)
Abnormality of brain morphology  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the musculature  (IAGP)
Abnormality of the voice  (IAGP)
Absent septum pellucidum  (IAGP)
Agenesis of corpus callosum  (IAGP)
Anophthalmia  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia involving the skeletal musculature  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Areflexia  (IAGP)
Atypical scarring of skin  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bifid uvula  (IAGP)
Blindness  (IAGP)
Buphthalmos  (IAGP)
Calf muscle pseudohypertrophy  (IAGP)
Cardiomyopathy  (IAGP)
Cataract  (IAGP)
Cerebellar cyst  (IAGP)
Cerebellar dysplasia  (IAGP)
Cerebellar hypoplasia  (IAGP)
Chorioretinal dysplasia  (IAGP)
Clonus  (IAGP)
Cognitive impairment  (IAGP)
Coloboma  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital muscular dystrophy  (IAGP)
Congenital onset  (IAGP)
Corneal opacity  (IAGP)
Cryptorchidism  (IAGP)
Cystoid macular edema  (IAGP)
Dandy-Walker malformation  (IAGP)
Decreased light- and dark-adapted electroretinogram amplitude  (IAGP)
Decreased thalamic volume  (IAGP)
Difficulty climbing stairs  (IAGP)
Diffuse white matter abnormalities  (IAGP)
Dilated fourth ventricle  (IAGP)
EEG abnormality  (IAGP)
Elevated serum creatine kinase  (IAGP)
EMG abnormality  (IAGP)
Enlarged flash visual evoked potentials  (IAGP)
Everted lower lip vermilion  (IAGP)
Fatigue  (IAGP)
Fusion of the cerebellar hemispheres  (IAGP)
Gait disturbance  (IAGP)
Generalized hypotonia  (IAGP)
Generalized muscle weakness  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Gowers sign  (IAGP)
Gray matter heterotopia  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Heterogeneous  (IAGP)
Holoprosencephaly  (IAGP)
Hydrocephalus  (IAGP)
Hyperinsulinemia  (IAGP)
Hyperlordosis  (IAGP)
Hyperreflexia  (IAGP)
Hypertonia  (IAGP)
Hypoglycosylation of alpha-dystroglycan  (IAGP)
Hypogonadism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the brainstem  (IAGP)
Hypoplasia of the pons  (IAGP)
Hypoplasia of the retina  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Iris coloboma  (IAGP)
Keratoconus  (IAGP)
Low-set ears  (IAGP)
Lumbar hyperlordosis  (IAGP)
Macrocephaly  (IAGP)
Macroglossia  (IAGP)
Macrogyria  (IAGP)
Malar flattening  (IAGP)
Megalocornea  (IAGP)
Meningocele  (IAGP)
Metatarsus valgus  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Midface retrusion  (IAGP)
Motor delay  (IAGP)
Muscle weakness  (IAGP)
Muscular dystrophy  (IAGP)
Myoclonus  (IAGP)
Myopathy  (IAGP)
Myopia  (IAGP)
Neurodevelopmental delay  (IAGP)
Neurological speech impairment  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Occipital encephalocele  (IAGP)
Olivopontocerebellar hypoplasia  (IAGP)
Opacification of the corneal stroma  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Optic nerve hypoplasia  (IAGP)
Pachygyria  (IAGP)
Pallor  (IAGP)
Peripapillary atrophy  (IAGP)
Photophobia  (IAGP)
Polymicrogyria  (IAGP)
Posteriorly rotated ears  (IAGP)
Progressive  (IAGP)
Progressive night blindness  (IAGP)
Protruding ear  (IAGP)
Proximal muscle weakness  (IAGP)
Reduced muscle fiber alpha dystroglycan  (IAGP)
Reduced visual acuity  (IAGP)
Retinal atrophy  (IAGP)
Retinal degeneration  (IAGP)
Retinal detachment  (IAGP)
Retinal dysplasia  (IAGP)
Retinal dystrophy  (IAGP)
Retinal thinning  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe global developmental delay  (IAGP)
Severe muscular hypotonia  (IAGP)
Short nasal bridge  (IAGP)
Skeletal muscle atrophy  (IAGP)
Skeletal muscle hypertrophy  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Strabismus  (IAGP)
Submucous cleft hard palate  (IAGP)
Type II diabetes mellitus  (IAGP)
Type II lissencephaly  (IAGP)
Uncontrolled eye movements  (IAGP)
Undetectable electroretinogram  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
Wide nasal bridge  (IAGP)
References

Additional References at PubMed
PMID:8125298   PMID:9915951   PMID:10737800   PMID:11742540   PMID:12467726   PMID:12477932   PMID:12588800   PMID:12788071   PMID:12975309   PMID:14702039   PMID:15207699   PMID:15466003  
PMID:15489334   PMID:16344560   PMID:16710414   PMID:16712791   PMID:16857188   PMID:17034757   PMID:17869517   PMID:17878207   PMID:17881266   PMID:17906881   PMID:19299310   PMID:20301468  
PMID:20301582   PMID:20301590   PMID:20816175   PMID:21361872   PMID:21684258   PMID:21727005   PMID:21873635   PMID:21988832   PMID:22419172   PMID:24731844   PMID:24733390   PMID:25416956  
PMID:26186194   PMID:26328495   PMID:26783077   PMID:26908613   PMID:27391550   PMID:27493216   PMID:28330616   PMID:28514442   PMID:28765568   PMID:29048655   PMID:29555514   PMID:29892012  
PMID:32296183   PMID:32306360  


Genomics

Comparative Map Data
POMGNT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl146,188,682 - 46,220,305 (-)EnsemblGRCh38hg38GRCh38
GRCh38146,188,683 - 46,220,305 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37146,654,355 - 46,685,977 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36146,426,940 - 46,436,708 (-)NCBINCBI36hg18NCBI36
Celera144,941,643 - 44,973,721 (-)NCBI
Cytogenetic Map1p34.1NCBI
HuRef144,769,330 - 44,801,277 (-)NCBIHuRef
CHM1_1146,771,477 - 46,803,118 (-)NCBICHM1_1
Pomgnt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394116,007,700 - 116,017,041 (+)NCBIGRCm39mm39
GRCm39 Ensembl4115,981,037 - 116,017,046 (+)Ensembl
GRCm384116,150,498 - 116,159,844 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4116,123,840 - 116,159,849 (+)EnsemblGRCm38mm10GRCm38
MGSCv374115,823,123 - 115,832,449 (+)NCBIGRCm37mm9NCBIm37
MGSCv364115,648,457 - 115,657,776 (+)NCBImm8
Celera4114,888,693 - 114,898,002 (+)NCBICelera
Cytogenetic Map4D1NCBI
Pomgnt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25129,634,274 - 129,644,150 (+)NCBI
Rnor_6.0 Ensembl5135,007,343 - 135,017,218 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.05135,007,343 - 135,017,220 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.05138,791,235 - 138,801,112 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45136,429,379 - 136,439,254 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15136,434,604 - 136,444,480 (+)NCBI
Celera5128,162,654 - 128,172,461 (+)NCBICelera
Cytogenetic Map5q35NCBI
Pomgnt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546412,077,406 - 12,086,700 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546412,076,815 - 12,086,961 (+)NCBIChiLan1.0ChiLan1.0
POMGNT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1146,849,528 - 46,859,137 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl146,849,528 - 46,859,137 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0145,494,834 - 45,525,804 (-)NCBIMhudiblu_PPA_v0panPan3
POMGNT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11514,176,932 - 14,187,181 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1514,178,357 - 14,187,161 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1514,299,079 - 14,309,089 (+)NCBI
ROS_Cfam_1.01514,329,378 - 14,339,540 (+)NCBI
UMICH_Zoey_3.11514,130,602 - 14,140,611 (+)NCBI
UNSW_CanFamBas_1.01514,199,089 - 14,209,095 (+)NCBI
UU_Cfam_GSD_1.01514,268,643 - 14,278,728 (+)NCBI
Pomgnt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505861,404,486 - 61,417,843 (-)NCBI
SpeTri2.0NW_00493647427,229,262 - 27,239,034 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
POMGNT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6165,212,833 - 165,222,409 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16165,212,828 - 165,222,412 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26152,692,300 - 152,701,877 (+)NCBISscrofa10.2Sscrofa10.2susScr3
POMGNT1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12086,588,049 - 86,597,576 (+)NCBI
ChlSab1.1 Ensembl2086,588,550 - 86,599,107 (+)Ensembl
Pomgnt1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249062,120,759 - 2,131,024 (-)NCBI

Position Markers
RH12209  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37146,654,356 - 46,654,516UniSTSGRCh37
Build 36146,426,943 - 46,427,103RGDNCBI36
Celera144,941,646 - 44,941,806RGD
Cytogenetic Map1p34.1UniSTS
GeneMap99-GB4 RH Map1143.77UniSTS
NCBI RH Map1294.0UniSTS
SHGC-74749  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37146,654,460 - 46,654,628UniSTSGRCh37
Build 36146,427,047 - 46,427,215RGDNCBI36
Celera144,941,750 - 44,941,918RGD
Cytogenetic Map1p34.1UniSTS
HuRef144,769,437 - 44,769,605UniSTS
TNG Radiation Hybrid Map123802.0UniSTS
GeneMap99-GB4 RH Map1143.46UniSTS
MARC_7377-7378:992008389:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37146,658,597 - 46,659,013UniSTSGRCh37
Build 36146,431,184 - 46,431,600RGDNCBI36
Celera144,945,887 - 44,946,303RGD
HuRef144,773,574 - 44,773,990UniSTS
D8S2278  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3p25.3-p24.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic MapXp22.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map12q14.3-q15UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q31UniSTS
GDB:434012  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q31.2-q33.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p21.3-p13.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map10p11.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map14q31UniSTS
L17809  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map9q34.13UniSTS
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
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
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

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3814
Count of miRNA genes:1091
Interacting mature miRNAs:1395
Transcripts:ENST00000371984, ENST00000371986, ENST00000371992, ENST00000396420, ENST00000463030, ENST00000475642, ENST00000477114, ENST00000480972, ENST00000485714, ENST00000489985, ENST00000497439, ENST00000535522
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2427 2169 1663 557 1159 403 4344 2121 3563 411 1449 1609 169 1175 2786 6
Low 12 814 63 67 784 62 13 76 171 8 11 4 6 1 29 2 2
Below cutoff 8 8

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001290129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001290130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005271010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA918249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB057356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF250859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL672043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW818474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM999774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ448444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB146374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA187331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000371984   ⟹   ENSP00000361052
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl146,188,683 - 46,198,434 (-)Ensembl
RefSeq Acc Id: ENST00000371992   ⟹   ENSP00000361060
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl146,188,683 - 46,220,305 (-)Ensembl
RefSeq Acc Id: ENST00000396420   ⟹   ENSP00000379698
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl146,188,682 - 46,220,291 (-)Ensembl
RefSeq Acc Id: ENST00000463030
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl146,191,616 - 46,192,341 (-)Ensembl
RefSeq Acc Id: ENST00000475642
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl146,188,684 - 46,189,567 (-)Ensembl
RefSeq Acc Id: ENST00000477114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl146,193,383 - 46,194,651 (-)Ensembl
RefSeq Acc Id: ENST00000480972
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl146,189,519 - 46,190,972 (-)Ensembl
RefSeq Acc Id: ENST00000485714
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl146,190,117 - 46,193,800 (-)Ensembl
RefSeq Acc Id: ENST00000489985
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl146,195,484 - 46,198,102 (-)Ensembl
RefSeq Acc Id: ENST00000497439
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl146,194,582 - 46,198,360 (-)Ensembl
RefSeq Acc Id: NM_001243766   ⟹   NP_001230695
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38146,188,683 - 46,220,305 (-)NCBI
GRCh37146,654,353 - 46,685,977 (-)NCBI
HuRef144,769,330 - 44,801,277 (-)NCBI
CHM1_1146,771,477 - 46,803,118 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001290129   ⟹   NP_001277058
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38146,188,683 - 46,197,499 (-)NCBI
CHM1_1146,771,477 - 46,780,296 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001290130   ⟹   NP_001277059
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38146,188,683 - 46,197,499 (-)NCBI
CHM1_1146,771,477 - 46,780,296 (-)NCBI
Sequence:
RefSeq Acc Id: NM_017739   ⟹   NP_060209
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38146,188,683 - 46,198,434 (-)NCBI
GRCh37146,654,353 - 46,685,977 (-)ENTREZGENE
Build 36146,426,940 - 46,436,708 (-)NCBI Archive
HuRef144,769,330 - 44,801,277 (-)ENTREZGENE
CHM1_1146,771,477 - 46,781,246 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005271010   ⟹   XP_005271067
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38146,188,683 - 46,198,444 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006710755   ⟹   XP_006710818
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38146,188,683 - 46,198,360 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006710756   ⟹   XP_006710819
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38146,188,683 - 46,198,444 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011541760   ⟹   XP_011540062
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38146,188,683 - 46,197,446 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017001690   ⟹   XP_016857179
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38146,188,683 - 46,198,360 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_060209   ⟸   NM_017739
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: NP_001230695   ⟸   NM_001243766
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: XP_005271067   ⟸   XM_005271010
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006710819   ⟸   XM_006710756
- Peptide Label: isoform X3
- UniProtKB: Q8WZA1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006710818   ⟸   XM_006710755
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001277059   ⟸   NM_001290130
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001277058   ⟸   NM_001290129
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: XP_011540062   ⟸   XM_011541760
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016857179   ⟸   XM_017001690
- Peptide Label: isoform X2
- UniProtKB: Q8WZA1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000361052   ⟸   ENST00000371984
RefSeq Acc Id: ENSP00000361060   ⟸   ENST00000371992
RefSeq Acc Id: ENSP00000379698   ⟸   ENST00000396420
Protein Domains
ILEI

Promoters
RGD ID:6855396
Promoter ID:EPDNEW_H863
Type:initiation region
Name:POMGNT1_1
Description:protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta1,2-)
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38146,198,434 - 46,198,494EPDNEW
RGD ID:6786306
Promoter ID:HG_KWN:2547
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000371986,   ENST00000396420,   OTTHUMT00000020153,   UC001CPE.1,   UC001CPJ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36146,436,516 - 46,437,482 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_017739.3(POMGNT1):c.751+8T>C single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000545938] Chr1:46194545 [GRCh38]
Chr1:46660217 [GRCh37]
Chr1:1p34.1
likely benign
NM_001243766.1(POMGNT1):c.386G>A (p.Arg129Gln) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000554424]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001200051]|not provided [RCV000591176] Chr1:46196046 [GRCh38]
Chr1:46661718 [GRCh37]
Chr1:1p34.1
pathogenic|uncertain significance
POMGNT1, 9-BP DUP, -83 duplication Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000032931] Chr1:1p34-p33 pathogenic
NM_017739.3(POMGNT1):c.1413+1G>T single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004193] Chr1:46192307 [GRCh38]
Chr1:46657979 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.1413+1G>A single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004194] Chr1:46192307 [GRCh38]
Chr1:46657979 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.1649G>A (p.Ser550Asn) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004195]|Muscle eye brain disease [RCV000169201] Chr1:46190473 [GRCh38]
Chr1:46656145 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_017739.3(POMGNT1):c.1719del (p.His573fs) deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004196]|Muscle eye brain disease [RCV000049998] Chr1:46189920 [GRCh38]
Chr1:46655592 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_017739.3(POMGNT1):c.1478C>G (p.Pro493Arg) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004197] Chr1:46192159 [GRCh38]
Chr1:46657831 [GRCh37]
Chr1:1p34.1
pathogenic
POMGNT1, 1-BP DEL, 1970G deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004198] Chr1:1p34-p33 pathogenic
NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004199]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000984301]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000984302]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001219572]|Muscle eye brain disease [RCV000984210]|Retinitis pigmentosa 76 [RCV000984303]|not provided [RCV000150001] Chr1:46192397 [GRCh38]
Chr1:46658069 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_017739.3(POMGNT1):c.932G>A (p.Arg311Gln) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004200]|Muscle eye brain disease [RCV000049989] Chr1:46193873 [GRCh38]
Chr1:46659545 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_001290130.1(POMGNT1):c.-243C>T single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004201]|Retinitis pigmentosa 76 [RCV000240891] Chr1:46197018 [GRCh38]
Chr1:46662690 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.1832del (p.Leu611fs) deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004202] Chr1:46189521 [GRCh38]
Chr1:46655193 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.1425G>A (p.Trp475Ter) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004203] Chr1:46192212 [GRCh38]
Chr1:46657884 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.1666G>A (p.Asp556Asn) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001097781]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000004204]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001082774]|Muscle eye brain disease [RCV000671438]|not provided [RCV000710195]|not specified [RCV000081801] Chr1:46189973 [GRCh38]
Chr1:46655645 [GRCh37]
Chr1:1p34.1
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_017739.3(POMGNT1):c.1814G>C (p.Arg605Pro) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000004205]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000824425]|Muscle eye brain disease [RCV000671290]|not provided [RCV001268426] Chr1:46189539 [GRCh38]
Chr1:46655211 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_017739.3(POMGNT1):c.652+1G>A single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000004206]|Muscle eye brain disease [RCV000050018] Chr1:46194843 [GRCh38]
Chr1:46660515 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000004207]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000798530]|Muscle eye brain disease [RCV000411094]|Muscle eye brain disease [RCV000763346]|not provided [RCV001091843] Chr1:46192168 [GRCh38]
Chr1:46657840 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_017739.3(POMGNT1):c.1014C>T (p.Asp338=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000546722] Chr1:46193576 [GRCh38]
Chr1:46659248 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1867G>A (p.Val623Met) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001080552]|not provided [RCV000576431] Chr1:46189486 [GRCh38]
Chr1:46655158 [GRCh37]
Chr1:1p34.1
benign
NM_017739.3(POMGNT1):c.107G>A (p.Arg36Gln) single nucleotide variant not provided [RCV000726806] Chr1:46197715 [GRCh38]
Chr1:46663387 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1855A>T (p.Asn619Tyr) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001045068]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001199124]|not provided [RCV000727414] Chr1:46189498 [GRCh38]
Chr1:46655170 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001045717]|Muscle eye brain disease [RCV000049988]|not specified [RCV000250383] Chr1:46194359 [GRCh38]
Chr1:46660031 [GRCh37]
Chr1:1p34.1
likely pathogenic|likely benign|uncertain significance
NM_017739.3(POMGNT1):c.1274G>C (p.Trp425Ser) single nucleotide variant Muscle eye brain disease [RCV000049990] Chr1:46192528 [GRCh38]
Chr1:46658200 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1285-2A>G single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000375211]|Muscle eye brain disease [RCV000049991]|POMGNT1-Related Disorders [RCV000292476]|Retinitis pigmentosa 76 [RCV000983991] Chr1:46192438 [GRCh38]
Chr1:46658110 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic|uncertain significance
NM_017739.3(POMGNT1):c.1319T>G (p.Leu440Arg) single nucleotide variant Muscle eye brain disease [RCV000049992] Chr1:46192402 [GRCh38]
Chr1:46658074 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1342G>C (p.Gly448Arg) single nucleotide variant Muscle eye brain disease [RCV000049993] Chr1:46192379 [GRCh38]
Chr1:46658051 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_001290129.1(POMGNT1):c.1274_1278CTGGG[2] (p.Trp429fs) microsatellite Muscle eye brain disease [RCV000049994]|not provided [RCV000782031] Chr1:46192367..46192371 [GRCh38]
Chr1:46658039..46658043 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_017739.3(POMGNT1):c.1539+1G>A single nucleotide variant Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies [RCV000501155]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV001030748]|Limb-girdle muscular dystrophy, autosomal recessive [RCV001269143]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648199]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001196668]|Muscle eye brain disease [RCV000049995]|Muscle eye brain disease [RCV000763345]|POMGNT1-Related Disorders [RCV000323217]|Retinitis pigmentosa 76 [RCV000983990]|not provided [RCV000153760] Chr1:46192097 [GRCh38]
Chr1:46657769 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.1539+1G>T single nucleotide variant Muscle eye brain disease [RCV000049996] Chr1:46192097 [GRCh38]
Chr1:46657769 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.1540-2A>G single nucleotide variant Muscle eye brain disease [RCV000049997] Chr1:46190786 [GRCh38]
Chr1:46656458 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_001243766.1(POMGNT1):c.1719delC (p.His573Glnfs) deletion Muscle eye brain disease [RCV000049998] Chr1:46189920 [GRCh38]
Chr1:46655592 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1738C>T (p.Arg580Ter) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000818740]|Muscle eye brain disease [RCV000049999] Chr1:46189901 [GRCh38]
Chr1:46655573 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_017739.3(POMGNT1):c.1769G>A (p.Trp590Ter) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000820354]|Muscle eye brain disease [RCV000050000] Chr1:46189870 [GRCh38]
Chr1:46655542 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_017739.3(POMGNT1):c.1785+2T>G single nucleotide variant Muscle eye brain disease [RCV000050001] Chr1:46189852 [GRCh38]
Chr1:46655524 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.4(POMGNT1):c.1814G>A single nucleotide variant Muscle eye brain disease [RCV000050002]|not provided [RCV001269853] Chr1:46189539 [GRCh38]
Chr1:46655211 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1864del (p.Leu622fs) deletion Muscle eye brain disease [RCV000050003] Chr1:46189489 [GRCh38]
Chr1:46655161 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_001243766.1(POMGNT1):c.1869+7del deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004198]|Muscle eye brain disease [RCV000050004] Chr1:46189477 [GRCh38]
Chr1:46655149 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_017739.3(POMGNT1):c.1895+1G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001043665]|Muscle eye brain disease [RCV000050005]|Retinitis pigmentosa 76 [RCV000240866] Chr1:46189457 [GRCh38]
Chr1:46655129 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_017739.3(POMGNT1):c.1895+1G>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000366136]|Inborn genetic diseases [RCV001266790]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000394027]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000704718]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001005010]|Muscle eye brain disease [RCV000050006]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 [RCV001333959]|POMGNT1-Related Disorders [RCV000778243]|Retinitis pigmentosa 76 [RCV000983992]|not provided [RCV000490077] Chr1:46189457 [GRCh38]
Chr1:46655129 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic|uncertain significance
NM_017739.3(POMGNT1):c.1895+5_1895+8del microsatellite Muscle eye brain disease [RCV000050007] Chr1:46189450..46189453 [GRCh38]
Chr1:46655122..46655125 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1896-1G>C single nucleotide variant Muscle eye brain disease [RCV000050008] Chr1:46189358 [GRCh38]
Chr1:46655030 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1928del (p.Phe643fs) deletion Muscle eye brain disease [RCV000050009] Chr1:46189325 [GRCh38]
Chr1:46654997 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.25dup (p.Leu9fs) duplication Muscle eye brain disease [RCV000050010] Chr1:46197796..46197797 [GRCh38]
Chr1:46663468..46663469 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_001290130.1(POMGNT1):c.-79del deletion Muscle eye brain disease [RCV000050011] Chr1:46196734 [GRCh38]
Chr1:46662406 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.447del (p.Phe149fs) deletion Muscle eye brain disease [RCV000050012] Chr1:46195898 [GRCh38]
Chr1:46661570 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.526A>C (p.Thr176Pro) single nucleotide variant Muscle eye brain disease [RCV000050013] Chr1:46195819 [GRCh38]
Chr1:46661491 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.593del (p.Ser198fs) deletion Muscle eye brain disease [RCV000050014] Chr1:46194903 [GRCh38]
Chr1:46660575 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.594C>G (p.Ser198Arg) single nucleotide variant Muscle eye brain disease [RCV000050015] Chr1:46194902 [GRCh38]
Chr1:46660574 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.630G>T (p.Trp210Cys) single nucleotide variant Muscle eye brain disease [RCV000050016] Chr1:46194866 [GRCh38]
Chr1:46660538 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000408610]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000984294]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001062800]|Muscle eye brain disease [RCV000050017]|Retinitis pigmentosa 76 [RCV000984295]|not provided [RCV000578838] Chr1:46194853 [GRCh38]
Chr1:46660525 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_001243766.1(POMGNT1):c.652+1G>A single nucleotide variant Muscle eye brain disease [RCV000050018] Chr1:46194843 [GRCh38]
Chr1:46660515 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.667G>A (p.Glu223Lys) single nucleotide variant Muscle eye brain disease [RCV000050019] Chr1:46194637 [GRCh38]
Chr1:46660309 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.806G>A (p.Cys269Tyr) single nucleotide variant Muscle eye brain disease [RCV000050020] Chr1:46194347 [GRCh38]
Chr1:46660019 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.879+5G>A single nucleotide variant Muscle eye brain disease [RCV000050021] Chr1:46194269 [GRCh38]
Chr1:46659941 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.879+5G>T single nucleotide variant Muscle eye brain disease [RCV000050022] Chr1:46194269 [GRCh38]
Chr1:46659941 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.931C>T (p.Arg311Ter) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000984300]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000984204]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001039421]|Muscle eye brain disease [RCV000050023]|Retinitis pigmentosa 76 [RCV000984205]|not provided [RCV000081807] Chr1:46193874 [GRCh38]
Chr1:46659546 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_017739.3(POMGNT1):c.982dup (p.Val328fs) duplication Muscle eye brain disease [RCV000050024] Chr1:46193607..46193608 [GRCh38]
Chr1:46659279..46659280 [GRCh37]
Chr1:1p34.1
likely pathogenic
GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|See cases [RCV000051817] Chr1:39479787..47688131 [GRCh38]
Chr1:39945459..48153803 [GRCh37]
Chr1:39718046..47926390 [NCBI36]
Chr1:1p34.3-33
pathogenic
NM_017739.3(POMGNT1):c.236-13T>C single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001101654]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001101653]|not provided [RCV000828431]|not specified [RCV000081802] Chr1:46196862 [GRCh38]
Chr1:46662534 [GRCh37]
Chr1:1p34.1
benign|likely benign|uncertain significance
NM_017739.3(POMGNT1):c.301G>A (p.Val101Ile) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000369008]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000312026]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001079365]|Muscle eye brain disease [RCV000667593]|not provided [RCV000710196]|not specified [RCV000081803] Chr1:46196784 [GRCh38]
Chr1:46662456 [GRCh37]
Chr1:1p34.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.582G>A (p.Arg194=) single nucleotide variant not provided [RCV000081804] Chr1:46194914 [GRCh38]
Chr1:46660586 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.681A>G (p.Lys227=) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000343385]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000304915]|Muscle eye brain disease [RCV001275750]|not provided [RCV000576556]|not specified [RCV000081805] Chr1:46194623 [GRCh38]
Chr1:46660295 [GRCh37]
Chr1:1p34.1
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_017739.3(POMGNT1):c.92dup (p.Asn31fs) duplication not provided [RCV000081806] Chr1:46197729..46197730 [GRCh38]
Chr1:46663401..46663402 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.1257G>A (p.Leu419=) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001101551]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001083592]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001101550]|Muscle eye brain disease [RCV001275233]|not provided [RCV000712840]|not specified [RCV000118028] Chr1:46192545 [GRCh38]
Chr1:46658217 [GRCh37]
Chr1:1p34.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_017739.3(POMGNT1):c.-11G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001097959]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001097960]|not specified [RCV000127571] Chr1:46197832 [GRCh38]
Chr1:46663504 [GRCh37]
Chr1:1p34.1
benign|likely benign|uncertain significance
NM_017739.4(POMGNT1):c.614G>A (p.Gly205Asp) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001303668] Chr1:46194882 [GRCh38]
Chr1:46660554 [GRCh37]
Chr1:1p34.1
uncertain significance
GRCh38/hg38 1p34.1(chr1:45488251-46220805)x3 copy number gain See cases [RCV000137659] Chr1:45488251..46220805 [GRCh38]
Chr1:45953923..46686477 [GRCh37]
Chr1:45726510..46459064 [NCBI36]
Chr1:1p34.1
uncertain significance
GRCh38/hg38 1p34.1(chr1:45469848-46220805)x3 copy number gain See cases [RCV000141255] Chr1:45469848..46220805 [GRCh38]
Chr1:45935520..46686477 [GRCh37]
Chr1:45708107..46459064 [NCBI36]
Chr1:1p34.1
likely benign|uncertain significance
NM_017739.3(POMGNT1):c.1298C>T (p.Thr433Met) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000260800]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000318279]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001084434]|Muscle eye brain disease [RCV000679858]|not provided [RCV000710194]|not specified [RCV000242900] Chr1:46192423 [GRCh38]
Chr1:46658095 [GRCh37]
Chr1:1p34.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.1540-16C>T single nucleotide variant not specified [RCV000149999] Chr1:46190800 [GRCh38]
Chr1:46656472 [GRCh37]
Chr1:1p34.1
benign
NM_017739.3(POMGNT1):c.839G>A (p.Ser280Asn) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001083649]|Muscle eye brain disease [RCV000763935]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 [RCV001333960]|not provided [RCV000725700]|not specified [RCV000150000] Chr1:46194314 [GRCh38]
Chr1:46659986 [GRCh37]
Chr1:1p34.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.1502T>C (p.Phe501Ser) single nucleotide variant Congenital muscular dystrophy [RCV000150002] Chr1:46192135 [GRCh38]
Chr1:46657807 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.319C>A (p.Arg107Ser) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648197]|Muscle eye brain disease [RCV000763937]|Muscle eye brain disease [RCV001272275] Chr1:46196766 [GRCh38]
Chr1:46662438 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1867= (p.Val623=) single nucleotide variant Muscle eye brain disease [RCV000986313]|not specified [RCV000153758] Chr1:46189486 [GRCh38]
Chr1:46655158 [GRCh37]
Chr1:1p34.1
benign
NM_017739.3(POMGNT1):c.1831C>T (p.Leu611=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001083116]|not provided [RCV000153759] Chr1:46189522 [GRCh38]
Chr1:46655194 [GRCh37]
Chr1:1p34.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.1490G>A (p.Arg497Gln) single nucleotide variant Inborn genetic diseases [RCV000622475]|not provided [RCV000153761] Chr1:46192147 [GRCh38]
Chr1:46657819 [GRCh37]
Chr1:1p34.1
likely pathogenic|uncertain significance
NM_017739.3(POMGNT1):c.1462C>G (p.Arg488Gly) single nucleotide variant not provided [RCV000153762] Chr1:46192175 [GRCh38]
Chr1:46657847 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.87G>A (p.Leu29=) single nucleotide variant not provided [RCV000175881] Chr1:46197735 [GRCh38]
Chr1:46663407 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.636C>T (p.Phe212=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000984297]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000695969]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000984298]|Muscle eye brain disease [RCV000984296]|Retinitis pigmentosa 76 [RCV000984299]|not provided [RCV000255207] Chr1:46194860 [GRCh38]
Chr1:46660532 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_017739.3(POMGNT1):c.1011dup (p.Asp338Ter) duplication Muscle eye brain disease [RCV000169509] Chr1:46193578..46193579 [GRCh38]
Chr1:46659250..46659251 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1142A>G (p.Asn381Ser) single nucleotide variant not specified [RCV000193707] Chr1:46193184 [GRCh38]
Chr1:46658856 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1285-6C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000814493]|not specified [RCV000194367] Chr1:46192442 [GRCh38]
Chr1:46658114 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.421-7C>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000356295]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000263792]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001081913]|Muscle eye brain disease [RCV001277259]|not provided [RCV000724803]|not specified [RCV000179495] Chr1:46195931 [GRCh38]
Chr1:46661603 [GRCh37]
Chr1:1p34.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.549C>T (p.Phe183=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001088969]|Muscle eye brain disease [RCV001275754]|not provided [RCV000724831]|not specified [RCV000179953] Chr1:46194947 [GRCh38]
Chr1:46660619 [GRCh37]
Chr1:1p34.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.38T>C (p.Phe13Ser) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001096216]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000813907]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001096217]|Muscle eye brain disease [RCV001275759]|not provided [RCV000727160]|not specified [RCV000194818] Chr1:46197784 [GRCh38]
Chr1:46663456 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1413+1G>C single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 [RCV000192386] Chr1:46192307 [GRCh38]
Chr1:46657979 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.1783A>G (p.Lys595Glu) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001061817]|not specified [RCV000193782] Chr1:46189856 [GRCh38]
Chr1:46655528 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.960C>G (p.Arg320=) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000343795]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000295933]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001081570]|Muscle eye brain disease [RCV001277253]|not provided [RCV000725556]|not specified [RCV000385748] Chr1:46193630 [GRCh38]
Chr1:46659302 [GRCh37]
Chr1:1p34.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.1540-6C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000358125]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000303249]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000877564] Chr1:46190790 [GRCh38]
Chr1:46656462 [GRCh37]
Chr1:1p34.1
likely benign|uncertain significance
NM_017739.3(POMGNT1):c.486A>G (p.Leu162=) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000298962]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000395975]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001079550]|not provided [RCV000386165] Chr1:46195859 [GRCh38]
Chr1:46661531 [GRCh37]
Chr1:1p34.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.46C>T (p.Arg16Trp) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000378567]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000286400]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000553660]|not provided [RCV000321112] Chr1:46197776 [GRCh38]
Chr1:46663448 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.959G>T (p.Arg320Leu) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000289829]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000401912]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001308582] Chr1:46193631 [GRCh38]
Chr1:46659303 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1510G>A (p.Val504Ile) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000268124]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000354770]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001084521]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 [RCV001333958]|not provided [RCV000548277]|not specified [RCV000267239] Chr1:46192127 [GRCh38]
Chr1:46657799 [GRCh37]
Chr1:1p34.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.466G>A (p.Glu156Lys) single nucleotide variant Retinitis pigmentosa 76 [RCV000240928] Chr1:46195879 [GRCh38]
Chr1:46661551 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.1895C>G (p.Ser632Ter) single nucleotide variant not provided [RCV000384080] Chr1:46189458 [GRCh38]
Chr1:46655130 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.1880C>T (p.Pro627Leu) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000525778] Chr1:46189473 [GRCh38]
Chr1:46655145 [GRCh37]
Chr1:1p34.1
uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
NM_001290129.1(POMGNT1):c.*5_*7TCC[1] microsatellite Muscle eye brain disease [RCV000670603] Chr1:46189260..46189262 [GRCh38]
Chr1:46654932..46654934 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1605-1G>C single nucleotide variant Muscle eye brain disease [RCV000670587] Chr1:46190518 [GRCh38]
Chr1:46656190 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.813A>C (p.Lys271Asn) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000347143]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000406624] Chr1:46194340 [GRCh38]
Chr1:46660012 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1927T>G (p.Phe643Val) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000306770]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000394019]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000822620]|Muscle eye brain disease [RCV001275227]|not provided [RCV000307681] Chr1:46189326 [GRCh38]
Chr1:46654998 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.652+19A>G single nucleotide variant not specified [RCV000599875] Chr1:46194825 [GRCh38]
Chr1:46660497 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1513G>A (p.Gly505Ser) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001247989]|Muscle eye brain disease [RCV000668943] Chr1:46192124 [GRCh38]
Chr1:46657796 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1505G>C (p.Gly502Ala) single nucleotide variant Retinitis pigmentosa 76 [RCV000240894] Chr1:46192132 [GRCh38]
Chr1:46657804 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.355-27C>T single nucleotide variant not specified [RCV000250875] Chr1:46196104 [GRCh38]
Chr1:46661776 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1785+46C>T single nucleotide variant not specified [RCV000246405] Chr1:46189808 [GRCh38]
Chr1:46655480 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.235+33T>G single nucleotide variant not specified [RCV000253882] Chr1:46196937 [GRCh38]
Chr1:46662609 [GRCh37]
Chr1:1p34.1
benign
NM_017739.3(POMGNT1):c.251G>A (p.Arg84His) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000540487]|not provided [RCV000521285] Chr1:46196834 [GRCh38]
Chr1:46662506 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.129C>T (p.Ala43=) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000381350]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000270884]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001088107]|not provided [RCV000732410] Chr1:46197076 [GRCh38]
Chr1:46662748 [GRCh37]
Chr1:1p34.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.534+40C>A single nucleotide variant not specified [RCV000242026] Chr1:46195771 [GRCh38]
Chr1:46661443 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1785+31C>A single nucleotide variant not specified [RCV000254414] Chr1:46189823 [GRCh38]
Chr1:46655495 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.880-39G>C single nucleotide variant not specified [RCV000242341] Chr1:46193964 [GRCh38]
Chr1:46659636 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1027-44A>G single nucleotide variant not provided [RCV000830213]|not specified [RCV000252026] Chr1:46193432 [GRCh38]
Chr1:46659104 [GRCh37]
Chr1:1p34.1
benign
NM_001243766.1(POMGNT1):c.1869+56A>G single nucleotide variant not specified [RCV000242379] Chr1:46189428 [GRCh38]
Chr1:46655100 [GRCh37]
Chr1:1p34.1
benign
NM_017739.3(POMGNT1):c.120+13C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000340979]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000283595]|not specified [RCV000245127] Chr1:46197689 [GRCh38]
Chr1:46663361 [GRCh37]
Chr1:1p34.1
benign|likely benign|uncertain significance
NM_017739.3(POMGNT1):c.277A>G (p.Ser93Gly) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000276303]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000333727] Chr1:46196808 [GRCh38]
Chr1:46662480 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1111-23C>T single nucleotide variant not specified [RCV000243209] Chr1:46193238 [GRCh38]
Chr1:46658910 [GRCh37]
Chr1:1p34.1
benign
NM_001290130.1(POMGNT1):c.-71T>G single nucleotide variant Retinitis pigmentosa 76 [RCV000240931] Chr1:46196073 [GRCh38]
Chr1:46661745 [GRCh37]
Chr1:46434332 [NCBI36]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.860T>G (p.Ile287Ser) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 [RCV001333961]|Retinitis pigmentosa 76 [RCV000240954] Chr1:46194293 [GRCh38]
Chr1:46659965 [GRCh37]
Chr1:1p34.1
pathogenic|uncertain significance
NM_017739.3(POMGNT1):c.*451C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000350895]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000296026] Chr1:46188819 [GRCh38]
Chr1:46654491 [GRCh37]
Chr1:1p34.1
likely benign|uncertain significance
NM_017739.3(POMGNT1):c.1077T>C (p.Thr359=) single nucleotide variant not provided [RCV000270489] Chr1:46193338 [GRCh38]
Chr1:46659010 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_001290130.1(POMGNT1):c.-34T>C single nucleotide variant not provided [RCV000303433] Chr1:46196036 [GRCh38]
Chr1:46661708 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1050G>T (p.Leu350=) single nucleotide variant not provided [RCV000337960] Chr1:46193365 [GRCh38]
Chr1:46659037 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.503C>T (p.Ala168Val) single nucleotide variant not provided [RCV000271426] Chr1:46195842 [GRCh38]
Chr1:46661514 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.758A>T (p.Glu253Val) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001348185]|not provided [RCV000271137] Chr1:46194395 [GRCh38]
Chr1:46660067 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1111-6T>C single nucleotide variant not provided [RCV000306178] Chr1:46193221 [GRCh38]
Chr1:46658893 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.461C>T (p.Pro154Leu) single nucleotide variant not provided [RCV000375207] Chr1:46195884 [GRCh38]
Chr1:46661556 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1979C>T (p.Thr660Ile) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648196]|not provided [RCV000376153] Chr1:46189274 [GRCh38]
Chr1:46654946 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1536T>C (p.Phe512=) single nucleotide variant not provided [RCV000378371] Chr1:46192101 [GRCh38]
Chr1:46657773 [GRCh37]
Chr1:1p34.1
conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.208G>A (p.Glu70Lys) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000695339]|Muscle eye brain disease [RCV001272277]|not provided [RCV000725149] Chr1:46196997 [GRCh38]
Chr1:46662669 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1457G>A (p.Arg486Gln) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648194]|not provided [RCV000312122] Chr1:46192180 [GRCh38]
Chr1:46657852 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1284+9G>C single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001079134]|not provided [RCV000726491]|not specified [RCV000346335] Chr1:46192509 [GRCh38]
Chr1:46658181 [GRCh37]
Chr1:1p34.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.561C>G (p.Asp187Glu) single nucleotide variant not provided [RCV000281001] Chr1:46194935 [GRCh38]
Chr1:46660607 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.664G>A (p.Gly222Arg) single nucleotide variant not provided [RCV000281302] Chr1:46194640 [GRCh38]
Chr1:46660312 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.958C>T (p.Arg320Cys) single nucleotide variant not provided [RCV000315823] Chr1:46193632 [GRCh38]
Chr1:46659304 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1379A>C (p.Glu460Ala) single nucleotide variant not provided [RCV000319103] Chr1:46192342 [GRCh38]
Chr1:46658014 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.286C>T (p.Arg96Trp) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001246342]|Muscle eye brain disease [RCV001275756]|not provided [RCV000658410] Chr1:46196799 [GRCh38]
Chr1:46662471 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1457G>T (p.Arg486Leu) single nucleotide variant not provided [RCV000286944] Chr1:46192180 [GRCh38]
Chr1:46657852 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.652+6G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001242504]|not provided [RCV000726485]|not specified [RCV000287773] Chr1:46194838 [GRCh38]
Chr1:46660510 [GRCh37]
Chr1:1p34.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.452C>T (p.Thr151Met) single nucleotide variant not provided [RCV000354413] Chr1:46195893 [GRCh38]
Chr1:46661565 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.120+3A>G single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001231293]|not provided [RCV000395118] Chr1:46197699 [GRCh38]
Chr1:46663371 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.266G>A (p.Arg89Gln) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001057584]|Muscle eye brain disease [RCV001272276]|not provided [RCV000292083] Chr1:46196819 [GRCh38]
Chr1:46662491 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1010T>C (p.Ile337Thr) single nucleotide variant Muscle eye brain disease [RCV000763934]|not provided [RCV000324220] Chr1:46193580 [GRCh38]
Chr1:46659252 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.444G>A (p.Val148=) single nucleotide variant not provided [RCV000325355] Chr1:46195901 [GRCh38]
Chr1:46661573 [GRCh37]
Chr1:1p34.1
conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.652+8C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001214468]|not provided [RCV000325705] Chr1:46194836 [GRCh38]
Chr1:46660508 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.355-9A>G single nucleotide variant not provided [RCV000395745] Chr1:46196086 [GRCh38]
Chr1:46661758 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1139T>C (p.Phe380Ser) single nucleotide variant not provided [RCV000396441] Chr1:46193187 [GRCh38]
Chr1:46658859 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.289C>T (p.Arg97Trp) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000875472]|not specified [RCV000292805] Chr1:46196796 [GRCh38]
Chr1:46662468 [GRCh37]
Chr1:1p34.1
benign|likely benign
NM_017739.3(POMGNT1):c.1539C>T (p.His513=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000701199]|Muscle eye brain disease [RCV001275232]|not provided [RCV000291524] Chr1:46192098 [GRCh38]
Chr1:46657770 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1923A>C (p.Pro641=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001085021]|not provided [RCV000362367] Chr1:46189330 [GRCh38]
Chr1:46655002 [GRCh37]
Chr1:1p34.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.1813C>T (p.Arg605Cys) single nucleotide variant not provided [RCV000397961] Chr1:46189540 [GRCh38]
Chr1:46655212 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1157C>T (p.Ala386Val) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001312386]|not provided [RCV000295360] Chr1:46192954 [GRCh38]
Chr1:46658626 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_001290130.1(POMGNT1):c.-12A>G single nucleotide variant not provided [RCV000294699] Chr1:46196014 [GRCh38]
Chr1:46661686 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1476C>A (p.Ile492=) single nucleotide variant not provided [RCV000295348] Chr1:46192161 [GRCh38]
Chr1:46657833 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1825C>T (p.Arg609Trp) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000812443]|not provided [RCV000297578] Chr1:46189528 [GRCh38]
Chr1:46655200 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.268C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001233854]|Muscle eye brain disease [RCV001277597]|not provided [RCV000331025] Chr1:46196817 [GRCh38]
Chr1:46662489 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.788G>A (p.Arg263His) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000816918]|not provided [RCV000331122] Chr1:46194365 [GRCh38]
Chr1:46660037 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.172A>G (p.Ile58Val) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000537268]|Muscle eye brain disease [RCV001272278]|not provided [RCV000402167] Chr1:46197033 [GRCh38]
Chr1:46662705 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1911C>T (p.Pro637=) single nucleotide variant not provided [RCV000368977] Chr1:46189342 [GRCh38]
Chr1:46655014 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.706G>C (p.Asp236His) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000547254]|not provided [RCV000369380] Chr1:46194598 [GRCh38]
Chr1:46660270 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1456C>G (p.Arg486Gly) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001213923]|Muscle eye brain disease [RCV000763933]|not provided [RCV000726595]|not specified [RCV000404503] Chr1:46192181 [GRCh38]
Chr1:46657853 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1645C>T (p.Leu549Phe) single nucleotide variant not provided [RCV000302178] Chr1:46190477 [GRCh38]
Chr1:46656149 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1933G>C (p.Glu645Gln) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001247522]|not provided [RCV000336166] Chr1:46189320 [GRCh38]
Chr1:46654992 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1454G>A (p.Arg485His) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000559267]|Muscle eye brain disease [RCV001277250]|not provided [RCV000407481] Chr1:46192183 [GRCh38]
Chr1:46657855 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.269G>A (p.Arg90His) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000524954]|Muscle eye brain disease [RCV000763938]|Muscle eye brain disease [RCV001275757]|not provided [RCV000407599] Chr1:46196816 [GRCh38]
Chr1:46662488 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1212-3_1212-2del deletion not provided [RCV000487672] Chr1:46192592..46192593 [GRCh38]
Chr1:46658264..46658265 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.4(POMGNT1):c.512G>A (p.Arg171Gln) single nucleotide variant Muscle eye brain disease [RCV001277596] Chr1:46195833 [GRCh38]
Chr1:46661505 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1786-6C>T single nucleotide variant Muscle eye brain disease [RCV001275229]|not provided [RCV000596002] Chr1:46189573 [GRCh38]
Chr1:46655245 [GRCh37]
Chr1:1p34.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.1007T>C (p.Phe336Ser) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000331000]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000387886] Chr1:46193583 [GRCh38]
Chr1:46659255 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1924A>G (p.Ile642Val) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001070882]|not provided [RCV000516928] Chr1:46189329 [GRCh38]
Chr1:46655001 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.-141A>G single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000334526]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000402740] Chr1:46198426 [GRCh38]
Chr1:46664098 [GRCh37]
Chr1:1p34.1
uncertain significance
NC_000001.10:g.(?_46654371)_(46663513_?)dup duplication Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000531409] Chr1:46188699..46197841 [GRCh38]
Chr1:46654371..46663513 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.121A>G (p.Thr41Ala) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000328266]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000385067] Chr1:46197084 [GRCh38]
Chr1:46662756 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.888C>A (p.Asp296Glu) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001312267]|not provided [RCV000591678] Chr1:46193917 [GRCh38]
Chr1:46659589 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1738C>A (p.Arg580=) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001097777]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001097778]|not provided [RCV000592161] Chr1:46189901 [GRCh38]
Chr1:46655573 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1464A>G (p.Arg488=) single nucleotide variant not provided [RCV000592225] Chr1:46192173 [GRCh38]
Chr1:46657845 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1683T>C (p.Pro561=) single nucleotide variant not provided [RCV000595995] Chr1:46189956 [GRCh38]
Chr1:46655628 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1284+8G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000871193]|not specified [RCV000601559] Chr1:46192510 [GRCh38]
Chr1:46658182 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1082T>C (p.Ile361Thr) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001236085]|not provided [RCV000592582] Chr1:46193333 [GRCh38]
Chr1:46659005 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1596T>C (p.Asn532=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001088509]|not provided [RCV000592757]|not specified [RCV001288362] Chr1:46190728 [GRCh38]
Chr1:46656400 [GRCh37]
Chr1:1p34.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.1264A>C (p.Ile422Leu) single nucleotide variant not provided [RCV000597291] Chr1:46192538 [GRCh38]
Chr1:46658210 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.16C>T (p.Pro6Ser) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000796528]|not provided [RCV000593050] Chr1:46197806 [GRCh38]
Chr1:46663478 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.880-4A>C single nucleotide variant not provided [RCV000591029] Chr1:46193929 [GRCh38]
Chr1:46659601 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.358C>G (p.Leu120Val) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001296019]|not provided [RCV000593833] Chr1:46196074 [GRCh38]
Chr1:46661746 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.234T>C (p.Tyr78=) single nucleotide variant not specified [RCV000599713] Chr1:46196971 [GRCh38]
Chr1:46662643 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.477dup (p.Met160fs) duplication not provided [RCV000597718] Chr1:46195867..46195868 [GRCh38]
Chr1:46661539..46661540 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.120+6G>C single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001070014]|not provided [RCV000591256] Chr1:46197696 [GRCh38]
Chr1:46663368 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.46C>A (p.Arg16=) single nucleotide variant not provided [RCV000591517] Chr1:46197776 [GRCh38]
Chr1:46663448 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1015G>T (p.Gly339Cys) single nucleotide variant not provided [RCV000592036] Chr1:46193575 [GRCh38]
Chr1:46659247 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.478del (p.Met160fs) deletion Muscle eye brain disease [RCV000409087] Chr1:46195867 [GRCh38]
Chr1:46661539 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1695_1698del (p.Phe566fs) deletion Muscle eye brain disease [RCV000409168] Chr1:46189941..46189944 [GRCh38]
Chr1:46655613..46655616 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1786-2A>G single nucleotide variant Muscle eye brain disease [RCV000409263] Chr1:46189569 [GRCh38]
Chr1:46655241 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1110+9T>C single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000556859] Chr1:46193296 [GRCh38]
Chr1:46658968 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.236-1G>T single nucleotide variant Muscle eye brain disease [RCV000409804] Chr1:46196850 [GRCh38]
Chr1:46662522 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.987del (p.Pro330fs) deletion Muscle eye brain disease [RCV000409861] Chr1:46193603 [GRCh38]
Chr1:46659275 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.99G>T (p.Arg33=) single nucleotide variant not provided [RCV000732025] Chr1:46197723 [GRCh38]
Chr1:46663395 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_001290130.1(POMGNT1):c.-304G>T single nucleotide variant not provided [RCV000733817] Chr1:46197079 [GRCh38]
Chr1:46662751 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1287G>C (p.Gly429=) single nucleotide variant not provided [RCV000733856] Chr1:46192434 [GRCh38]
Chr1:46658106 [GRCh37]
Chr1:1p34.1
conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.797G>A (p.Arg266Gln) single nucleotide variant not provided [RCV000595313] Chr1:46194356 [GRCh38]
Chr1:46660028 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1113del (p.Tyr372fs) deletion Muscle eye brain disease [RCV000410334] Chr1:46193213 [GRCh38]
Chr1:46658885 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1562del (p.Lys521fs) deletion Muscle eye brain disease [RCV000410384] Chr1:46190762 [GRCh38]
Chr1:46656434 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_001290130.1(POMGNT1):c.-227C>G single nucleotide variant not provided [RCV000732261] Chr1:46197002 [GRCh38]
Chr1:46662674 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.427G>A (p.Val143Met) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001038189]|not provided [RCV000732264] Chr1:46195918 [GRCh38]
Chr1:46661590 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1167T>C (p.Ala389=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000530635]|not provided [RCV000732506] Chr1:46192944 [GRCh38]
Chr1:46658616 [GRCh37]
Chr1:1p34.1
likely benign|uncertain significance
NM_017739.3(POMGNT1):c.875del (p.Asp292fs) deletion Muscle eye brain disease [RCV000410756] Chr1:46194278 [GRCh38]
Chr1:46659950 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_001243766.1(POMGNT1):c.1692_1693CT[1] (p.Ser565fs) microsatellite Muscle eye brain disease [RCV000410825] Chr1:46189944..46189945 [GRCh38]
Chr1:46655616..46655617 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.60_63delinsGTGA (p.Ser20_Trp21delinsArgTer) indel Muscle eye brain disease [RCV000410976] Chr1:46197759..46197762 [GRCh38]
Chr1:46663431..46663434 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1151C>G (p.Pro384Arg) single nucleotide variant not provided [RCV000734635] Chr1:46193175 [GRCh38]
Chr1:46658847 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.354+1G>A single nucleotide variant Muscle eye brain disease [RCV000411160] Chr1:46196730 [GRCh38]
Chr1:46662402 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.880-2A>G single nucleotide variant Muscle eye brain disease [RCV000411269] Chr1:46193927 [GRCh38]
Chr1:46659599 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1153-8C>T single nucleotide variant not provided [RCV000733289] Chr1:46192966 [GRCh38]
Chr1:46658638 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1786-9C>T single nucleotide variant not provided [RCV000733317] Chr1:46189576 [GRCh38]
Chr1:46655248 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1558C>T (p.His520Tyr) single nucleotide variant not provided [RCV000734075] Chr1:46190766 [GRCh38]
Chr1:46656438 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1650-4G>A single nucleotide variant not provided [RCV000734084] Chr1:46189993 [GRCh38]
Chr1:46655665 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.354+3C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001248054]|not provided [RCV000733543] Chr1:46196728 [GRCh38]
Chr1:46662400 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1284+2_1284+19del deletion Muscle eye brain disease [RCV000411800] Chr1:46192499..46192516 [GRCh38]
Chr1:46658171..46658188 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1741_1745del (p.Met581fs) deletion Muscle eye brain disease [RCV000411968] Chr1:46189894..46189898 [GRCh38]
Chr1:46655566..46655570 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.185_186insA (p.Arg63fs) insertion Muscle eye brain disease [RCV000412188] Chr1:46197019..46197020 [GRCh38]
Chr1:46662691..46662692 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.121-2A>G single nucleotide variant Muscle eye brain disease [RCV000412225] Chr1:46197086 [GRCh38]
Chr1:46662758 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.751+10G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000535748] Chr1:46194543 [GRCh38]
Chr1:46660215 [GRCh37]
Chr1:1p34.1
likely benign
NM_001290130.1(POMGNT1):c.-273G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001209334]|not provided [RCV000729780] Chr1:46197048 [GRCh38]
Chr1:46662720 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_001243766.1(POMGNT1):c.1438C>T (p.Arg480Trp) single nucleotide variant Retinitis pigmentosa 76 [RCV001262482]|not provided [RCV000731690] Chr1:46192199 [GRCh38]
Chr1:46657871 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.751+4G>C single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001239878]|not provided [RCV000731722] Chr1:46194549 [GRCh38]
Chr1:46660221 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.420+5G>T single nucleotide variant not provided [RCV000733716] Chr1:46196007 [GRCh38]
Chr1:46661679 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1538_1539+2del deletion Muscle eye brain disease [RCV000412386] Chr1:46192096..46192099 [GRCh38]
Chr1:46657768..46657771 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.879+2T>C single nucleotide variant Muscle eye brain disease [RCV000412480] Chr1:46194272 [GRCh38]
Chr1:46659944 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.698C>T (p.Ser233Phe) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001096118]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000873590]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001096117]|not specified [RCV000413042] Chr1:46194606 [GRCh38]
Chr1:46660278 [GRCh37]
Chr1:1p34.1
likely benign|uncertain significance
NM_017739.3(POMGNT1):c.1406C>T (p.Pro469Leu) single nucleotide variant not provided [RCV000730929] Chr1:46192315 [GRCh38]
Chr1:46657987 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1027-2_1027-1del deletion Muscle eye brain disease [RCV000408976] Chr1:46193389..46193390 [GRCh38]
Chr1:46659061..46659062 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1173T>C (p.Val391=) single nucleotide variant not specified [RCV000417435] Chr1:46192938 [GRCh38]
Chr1:46658610 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1560C>T (p.His520=) single nucleotide variant not specified [RCV000420628] Chr1:46190764 [GRCh38]
Chr1:46656436 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1569C>T (p.Asn523=) single nucleotide variant not specified [RCV000438302] Chr1:46190755 [GRCh38]
Chr1:46656427 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.753G>T (p.Glu251Asp) single nucleotide variant Muscle eye brain disease [RCV000680075] Chr1:46194400 [GRCh38]
Chr1:46660072 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.-33C>T single nucleotide variant not specified [RCV000439094] Chr1:46197854 [GRCh38]
Chr1:46663526 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.534+15C>T single nucleotide variant not specified [RCV000428769] Chr1:46195796 [GRCh38]
Chr1:46661468 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.565G>T (p.Ala189Ser) single nucleotide variant Muscle eye brain disease [RCV001277257]|not provided [RCV000435879] Chr1:46194931 [GRCh38]
Chr1:46660603 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.314C>G (p.Ser105Ter) single nucleotide variant not provided [RCV000428665] Chr1:46196771 [GRCh38]
Chr1:46662443 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.415G>C (p.Ala139Pro) single nucleotide variant not specified [RCV000518767] Chr1:46196017 [GRCh38]
Chr1:46661689 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1212-4T>G single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000977068]|not specified [RCV000443706] Chr1:46192594 [GRCh38]
Chr1:46658266 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.287G>C (p.Arg96Pro) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001240358]|not provided [RCV000522693] Chr1:46196798 [GRCh38]
Chr1:46662470 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.507C>T (p.Pro169=) single nucleotide variant not specified [RCV000441056] Chr1:46195838 [GRCh38]
Chr1:46661510 [GRCh37]
Chr1:1p34.1
likely benign
GRCh37/hg19 1p34.1(chr1:46078097-46725770)x3 copy number gain See cases [RCV000448110] Chr1:46078097..46725770 [GRCh37]
Chr1:1p34.1
uncertain significance
GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)x1 copy number loss See cases [RCV000448358] Chr1:45303358..52157856 [GRCh37]
Chr1:1p34.1-32.3
likely pathogenic
NM_017739.3(POMGNT1):c.421-13_421-10dup duplication not specified [RCV000480586] Chr1:46195933..46195934 [GRCh38]
Chr1:46661605..46661606 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.355G>A (p.Val119Met) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000817043]|Muscle eye brain disease [RCV000763936]|not provided [RCV000485011] Chr1:46196077 [GRCh38]
Chr1:46661749 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_001013615.3(LURAP1):c.620A>G (p.Gln207Arg) single nucleotide variant not specified [RCV000455955] Chr1:46220120 [GRCh38]
Chr1:46685792 [GRCh37]
Chr1:1p34.1
benign
NM_017739.3(POMGNT1):c.1463G>A (p.Arg488Gln) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000984207]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000984208]|Muscle eye brain disease [RCV000984206]|Retinitis pigmentosa 76 [RCV000984209]|not provided [RCV000479982] Chr1:46192174 [GRCh38]
Chr1:46657846 [GRCh37]
Chr1:1p34.1
likely pathogenic|uncertain significance
NM_017739.3(POMGNT1):c.550C>T (p.His184Tyr) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000531957]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001007817]|Muscle eye brain disease [RCV001275753] Chr1:46194946 [GRCh38]
Chr1:46660618 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.440G>A (p.Arg147His) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000543475]|Muscle eye brain disease [RCV001275755]|not specified [RCV000504514] Chr1:46195905 [GRCh38]
Chr1:46661577 [GRCh37]
Chr1:1p34.1
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p34.1-33(chr1:46541307-47088882)x3 copy number gain See cases [RCV000511609] Chr1:46541307..47088882 [GRCh37]
Chr1:1p34.1-33
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_017739.3(POMGNT1):c.70A>G (p.Thr24Ala) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000557425] Chr1:46197752 [GRCh38]
Chr1:46663424 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.6C>T (p.Asp2=) single nucleotide variant not provided [RCV000595917] Chr1:46197816 [GRCh38]
Chr1:46663488 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1195G>A (p.Ala399Thr) single nucleotide variant not provided [RCV000596846] Chr1:46192916 [GRCh38]
Chr1:46658588 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1305G>A (p.Glu435=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000549154] Chr1:46192416 [GRCh38]
Chr1:46658088 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.535-14C>G single nucleotide variant not specified [RCV000602619] Chr1:46194975 [GRCh38]
Chr1:46660647 [GRCh37]
Chr1:1p34.1
likely benign
NM_001290130.1(POMGNT1):c.-4C>T single nucleotide variant not provided [RCV000594088] Chr1:46195919 [GRCh38]
Chr1:46661591 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.251G>T (p.Arg84Leu) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000555787] Chr1:46196834 [GRCh38]
Chr1:46662506 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.624C>T (p.Asp208=) single nucleotide variant not specified [RCV000609481] Chr1:46194872 [GRCh38]
Chr1:46660544 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.-68G>A single nucleotide variant not specified [RCV000606731] Chr1:46198353 [GRCh38]
Chr1:46664025 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.535-7C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000890554]|not specified [RCV000615940] Chr1:46194968 [GRCh38]
Chr1:46660640 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1532A>G (p.Tyr511Cys) single nucleotide variant not provided [RCV000596145] Chr1:46192105 [GRCh38]
Chr1:46657777 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1786-17C>T single nucleotide variant not specified [RCV000607546] Chr1:46189584 [GRCh38]
Chr1:46655256 [GRCh37]
Chr1:1p34.1
likely benign