GMPPB (GDP-mannose pyrophosphorylase B)

	Submit Data \| Help \| Video Tutorials \| News \| Publications \| Download \| REST API \| Citing RGD \| Contact
	Search RGD Grant Resources Citing RGD About Us Contact Us Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner VCMap Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease Find Models new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive Pathways Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
	Advanced Search (OLGA)

Gene: GMPPB (GDP-mannose pyrophosphorylase B) Homo sapiens

Analyze

Symbol:

GMPPB

Name:

GDP-mannose pyrophosphorylase B

RGD ID:

1607035

HGNC Page

HGNC

Description:

Predicted to have GTP binding activity and mannose-1-phosphate guanylyltransferase activity. Involved in GDP-mannose biosynthetic process. Localizes to cytoplasm. Implicated in autosomal recessive limb-girdle muscular dystrophy type 2T; congenital muscular dystrophy-dystroglycanopathy A14; and muscular dystrophy-dystroglycanopathy.

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

GTP-mannose-1-phosphate guanylyltransferase beta; KIAA1851; LGMDR19; mannose-1-phosphate guanyltransferase beta; mannose-1-phosphate guanylyltransferase; MDDGA14; MDDGB14; MDDGC14

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Gmppb (GDP-mannose pyrophosphorylase B)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Gmppb (GDP-mannose pyrophosphorylase B)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Gmppb (GDP-mannose pyrophosphorylase B)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	GMPPB (GDP-mannose pyrophosphorylase B)	NCBI	Ortholog
Canis lupus familiaris (dog):	GMPPB (GDP-mannose pyrophosphorylase B)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Gmppb (GDP-mannose pyrophosphorylase B)	NCBI	Ortholog
Sus scrofa (pig):	GMPPB (GDP-mannose pyrophosphorylase B)	HGNC	EggNOG, Inparanoid, NCBI, OMA, OrthoDB, Treefam
Chlorocebus sabaeus (African green monkey):	GMPPB (GDP-mannose pyrophosphorylase B)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Gmppb (GDP-mannose pyrophosphorylase B)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Gmppb (GDP-mannose pyrophosphorylase B)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|TreeFam)
Mus musculus (house mouse):	Gmppb (GDP-mannose pyrophosphorylase B)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Danio rerio (zebrafish):	gmppb (GDP-mannose pyrophosphorylase B)	Alliance	DIOPT (Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam\|ZFIN)
Drosophila melanogaster (fruit fly):	CG1129	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Saccharomyces cerevisiae (baker's yeast):	PSA1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Caenorhabditis elegans (roundworm):	tag-335	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	3	49,716,844 - 49,723,973 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38.p13 Ensembl	3	49,716,844 - 49,723,951 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	3	49,719,916 - 49,723,951 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	3	49,757,349 - 49,761,384 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	49,733,936 - 49,736,388 (-)	NCBI	NCBI36		hg18	NCBI36
Celera	3	49,723,623 - 49,726,075 (-)	NCBI
Cytogenetic Map	3	p21.31	NCBI
HuRef	3	49,817,885 - 49,820,383 (-)	NCBI		HuRef
CHM1_1	3	49,710,967 - 49,713,465 (-)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autosomal recessive limb-girdle muscular dystrophy type 2T (IAGP)

congenital muscular dystrophy-dystroglycanopathy A14 (IAGP)

congenital myasthenic syndrome (IAGP)

Developmental Disabilities (IAGP)

genetic disease (IAGP)

isolated elevated serum creatine phosphokinase levels (IAGP)

muscular dystrophy (IAGP)

muscular dystrophy-dystroglycanopathy (IAGP,IEA)

Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14 (IAGP)

Walker-Warburg syndrome (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

(2,4,5-trichlorophenoxy)acetic acid (ISO)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

17beta-hydroxy-5alpha-androstan-3-one (EXP)

2,2',4,4'-Tetrabromodiphenyl ether (EXP,ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,4,6-trinitrotoluene (ISO)

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

2-methylcholine (EXP)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-sulfonyldiphenol (EXP)

acrylamide (ISO)

aldrin (ISO)

benzo[a]pyrene (EXP,ISO)

bisphenol A (ISO)

cadmium dichloride (ISO)

carbon nanotube (ISO)

chloroethene (ISO)

ciguatoxin CTX1B (ISO)

clofibrate (ISO)

cobalt dichloride (EXP)

copper(II) sulfate (EXP,ISO)

cyclosporin A (EXP)

dexamethasone (EXP)

diazinon (EXP)

endosulfan (ISO)

folic acid (ISO)

formaldehyde (EXP)

glafenine (ISO)

indometacin (EXP)

mercury atom (ISO)

mercury(0) (ISO)

metformin (ISO)

nickel atom (EXP)

paracetamol (ISO)

pirinixic acid (ISO)

poly(I:C) (ISO)

propiconazole (ISO)

quercetin (EXP)

resveratrol (ISO)

silicon dioxide (ISO)

sodium fluoride (ISO)

Testosterone propionate (ISO)

tetrachloroethene (ISO)

tetrachloromethane (ISO)

tetrahydropalmatine (EXP)

titanium dioxide (ISO)

triphenyl phosphate (ISO)

tunicamycin (EXP)

valproic acid (EXP,ISO)

vincristine (EXP)

zinc atom (EXP)

zinc(0) (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

GDP-mannose biosynthetic process (IEA,IMP)

Cellular Component

cytoplasm (IDA)

Molecular Function

GTP binding (IEA)

mannose-1-phosphate guanylyltransferase activity (IEA)

protein binding (IPI)

Molecular Pathway Annotations Click to see Annotation Detail View

amino sugar metabolic pathway (IEA)

fructose and mannose metabolic pathway (EXP,IEA)

fructosuria pathway (EXP)

hereditary fructose intolerance syndrome pathway (EXP)

nucleotide sugar metabolic pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal pyramidal sign (IAGP)

Abnormality iris morphology (IAGP)

Abnormality of the periventricular white matter (IAGP)

Abnormality of the pons (IAGP)

Abnormality of the tongue muscle (IAGP)

Abnormality of the voice (IAGP)

Absent speech (IAGP)

Agenesis of corpus callosum (IAGP)

Aplasia/Hypoplasia of the cerebellum (IAGP)

Areflexia (IAGP)

Ataxia (IAGP)

Autosomal recessive inheritance (IAGP)

Axial muscle weakness (IAGP)

Blindness (IAGP)

Calf muscle hypertrophy (IAGP)

Calf muscle pseudohypertrophy (IAGP)

Cardiomyopathy (IAGP)

Cataract (IAGP)

Cerebellar cyst (IAGP)

Cerebellar hypoplasia (IAGP)

Cerebellar vermis hypoplasia (IAGP)

Cerebral cortical atrophy (IAGP)

Cleft palate (IAGP)

Clonus (IAGP)

Cognitive impairment (IAGP)

Coloboma (IAGP)

Congenital muscular dystrophy (IAGP)

Congenital onset (IAGP)

Cryptorchidism (IAGP)

Decreased cervical spine mobility (IAGP)

Decreased fetal movement (IAGP)

Decreased thalamic volume (IAGP)

Difficulty climbing stairs (IAGP)

Difficulty running (IAGP)

Difficulty walking (IAGP)

Diffuse white matter abnormalities (IAGP)

Dilatation of the ventricular cavity (IAGP)

Dilated fourth ventricle (IAGP)

Distal lower limb muscle weakness (IAGP)

Distal muscle weakness (IAGP)

Distal upper limb muscle weakness (IAGP)

Easy fatigability (IAGP)

EEG abnormality (IAGP)

Elevated serum creatine kinase (IAGP)

EMG abnormality (IAGP)

EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (IAGP)

Exercise intolerance (IAGP)

Facial palsy (IAGP)

Fatigable weakness (IAGP)

Fatigable weakness of bulbar muscles (IAGP)

Fatigable weakness of skeletal muscles (IAGP)

Favorable response of weakness to acetylcholine esterase inhibitors (IAGP)

Feeding difficulties (IAGP)

Flexion contracture (IAGP)

Frequent falls (IAGP)

Fusion of the cerebellar hemispheres (IAGP)

Gait disturbance (IAGP)

Generalized hypotonia (IAGP)

Generalized limb muscle atrophy (IAGP)

Generalized weakness of limb muscles (IAGP)

Glaucoma (IAGP)

Global developmental delay (IAGP)

Gowers sign (IAGP)

Gray matter heterotopia (IAGP)

Hemiplegia/hemiparesis (IAGP)

High palate (IAGP)

Hip dislocation (IAGP)

Holoprosencephaly (IAGP)

Hydrocephalus (IAGP)

Hypertonia (IAGP)

Hypoglycosylation of alpha-dystroglycan (IAGP)

Hypoplasia of the brainstem (IAGP)

Hypoplasia of the corpus callosum (IAGP)

Hypoplasia of the pons (IAGP)

Hypotonia (IAGP)

Inability to walk (IAGP)

Increased jitter at single fiber EMG (IAGP)

Infantile muscular hypotonia (IAGP)

Intellectual disability (IAGP)

Intellectual disability, mild (IAGP)

Intellectual disability, severe (IAGP)

Joint laxity (IAGP)

Knee flexion contracture (IAGP)

Limb-girdle muscle weakness (IAGP)

Loss of ability to walk (IAGP)

Lumbar hyperlordosis (IAGP)

Macroglossia (IAGP)

Megalocornea (IAGP)

Meningocele (IAGP)

Microcephaly (IAGP)

Micropenis (IAGP)

Microphthalmia (IAGP)

Motor delay (IAGP)

Multiple joint contractures (IAGP)

Muscle fiber tubular inclusions (IAGP)

Muscle spasm (IAGP)

Muscle weakness (IAGP)

Muscular dystrophy (IAGP)

Myopathic facies (IAGP)

Myopathy (IAGP)

Myopia (IAGP)

Neck muscle weakness (IAGP)

Neurological speech impairment (IAGP)

Nystagmus (IAGP)

Occipital encephalocele (IAGP)

Oligohydramnios (IAGP)

Olivopontocerebellar hypoplasia (IAGP)

Optic atrophy (IAGP)

Optic nerve hypoplasia (IAGP)

Pes planus (IAGP)

Pigmentary retinopathy (IAGP)

Polymicrogyria (IAGP)

Poor gross motor coordination (IAGP)

Poor head control (IAGP)

Poor speech (IAGP)

Prolonged QT interval (IAGP)

Proximal muscle weakness (IAGP)

Proximal muscle weakness in upper limbs (IAGP)

Ptosis (IAGP)

Ragged-red muscle fibers (IAGP)

Reduced muscle fiber alpha dystroglycan (IAGP)

Reduced tendon reflexes (IAGP)

Respiratory failure (IAGP)

Respiratory insufficiency (IAGP)

Retinal detachment (IAGP)

Scapular winging (IAGP)

Scoliosis (IAGP)

Seizure (IAGP)

Sensorineural hearing impairment (IAGP)

Spinal deformities (IAGP)

Strabismus (IAGP)

Type 1 muscle fiber predominance (IAGP)

Type II lissencephaly (IAGP)

Variable expressivity (IAGP)

Ventriculomegaly (IAGP)

Visual impairment (IAGP)

Waddling gait (IAGP)

References

References - curated


1.	Jensen BS, etal., Hum Mutat. 2015 Dec;36(12):1159-63. doi: 10.1002/humu.22898. Epub 2015 Sep 23.
2.	OMIM Disease Annotation Pipeline
3.	Pipeline to import KEGG annotations from KEGG into RGD
4.	Pipeline to import SMPDB annotations from SMPDB into RGD
5.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6.	RGD automated import pipeline for gene-chemical interactions
7.	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:11082198	PMID:11347906	PMID:12477932	PMID:12843293	PMID:12975309	PMID:14702039	PMID:15489334	PMID:16189514	PMID:16344560	PMID:19490893	PMID:20301347	PMID:20307617
PMID:20877624	PMID:21297633	PMID:22863883	PMID:22939629	PMID:23376485	PMID:23768512	PMID:24780531	PMID:25416956	PMID:25681410	PMID:26133662	PMID:26186194	PMID:26344197
PMID:26496610	PMID:26972000	PMID:27147698	PMID:27432908	PMID:27684187	PMID:28433477	PMID:28478914	PMID:28514442	PMID:29437916	PMID:29467282	PMID:29955894	PMID:30684953
PMID:31515488	PMID:32296183

Genomics

Comparative Map Data

GMPPB
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	3	49,716,844 - 49,723,973 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38.p13 Ensembl	3	49,716,844 - 49,723,951 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	3	49,719,916 - 49,723,951 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	3	49,757,349 - 49,761,384 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	49,733,936 - 49,736,388 (-)	NCBI	NCBI36		hg18	NCBI36
Celera	3	49,723,623 - 49,726,075 (-)	NCBI
Cytogenetic Map	3	p21.31	NCBI
HuRef	3	49,817,885 - 49,820,383 (-)	NCBI		HuRef
CHM1_1	3	49,710,967 - 49,713,465 (-)	NCBI		CHM1_1

Gmppb
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	9	107,926,438 - 107,929,120 (+)	NCBI	GRCm39		mm39
GRCm39 Ensembl	9	107,926,441 - 107,930,000 (+)	Ensembl
GRCm38	9	108,049,239 - 108,051,923 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	9	108,049,242 - 108,052,801 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	9	107,951,621 - 107,954,267 (+)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	9	107,907,410 - 107,909,802 (+)	NCBI			mm8
Celera	9	107,659,146 - 107,661,786 (+)	NCBI		Celera
Cytogenetic Map	9	F1	NCBI

Gmppb
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	8	108,737,429 - 108,767,286 (+)	NCBI
Rnor_6.0 Ensembl	8	116,826,680 - 116,856,159 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	8	116,826,251 - 116,856,159 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	8	116,180,562 - 116,210,240 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	8	113,317,165 - 113,346,646 (+)	NCBI	RGSC3.4		rn4	RGSC3.4
Celera	8	108,042,518 - 108,071,499 (+)	NCBI		Celera
Cytogenetic Map	8	q32	NCBI

Gmppb
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955532	1,622,605 - 1,624,900 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955532	1,622,605 - 1,624,900 (-)	NCBI	ChiLan1.0	ChiLan1.0

GMPPB
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	3	50,889,479 - 50,891,969 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	3	50,889,479 - 50,891,969 (-)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	3	49,653,638 - 49,656,135 (-)	NCBI	Mhudiblu_PPA_v0		panPan3

GMPPB
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	20	39,550,799 - 39,553,045 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	20	39,550,799 - 39,553,045 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	20	39,471,723 - 39,473,969 (+)	NCBI
ROS_Cfam_1.0	20	39,908,319 - 39,910,564 (+)	NCBI
UMICH_Zoey_3.1	20	39,275,391 - 39,277,636 (+)	NCBI
UNSW_CanFamBas_1.0	20	39,678,760 - 39,681,006 (+)	NCBI
UU_Cfam_GSD_1.0	20	39,958,590 - 39,960,836 (+)	NCBI

Gmppb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_ltri_2	NW_024405602	64,574,309 - 64,577,997 (-)	NCBI
SpeTri2.0	NW_004936529	1,336,002 - 1,338,615 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

GMPPB
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	13	32,246,468 - 32,253,148 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	13	32,246,471 - 32,253,162 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	13	35,425,664 - 35,432,367 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

GMPPB
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	22	11,116,497 - 11,118,980 (-)	NCBI
ChlSab1.1 Ensembl	22	11,116,752 - 11,118,926 (-)	Ensembl

Gmppb
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624730	3,645,768 - 3,648,157 (-)	NCBI

Position Markers

RH91732

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	49,758,666 - 49,758,920	UniSTS	GRCh37
Build 36	3	49,733,670 - 49,733,924	RGD	NCBI36
Celera	3	49,723,357 - 49,723,611	RGD
Cytogenetic Map	3	p21.31	UniSTS
Cytogenetic Map	3	p24.3	UniSTS
Cytogenetic Map	3	p21	UniSTS
HuRef	3	49,817,642 - 49,817,896	UniSTS
GeneMap99-GB4 RH Map	3	159.24	UniSTS

RH15941

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	49,758,748 - 49,758,931	UniSTS	GRCh37
Build 36	3	49,733,752 - 49,733,935	RGD	NCBI36
Celera	3	49,723,439 - 49,723,622	RGD
Cytogenetic Map	3	p21.31	UniSTS
Cytogenetic Map	3	p24.3	UniSTS
Cytogenetic Map	3	p21	UniSTS
HuRef	3	49,817,724 - 49,817,907	UniSTS

G54105

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	49,758,687 - 49,758,837	UniSTS	GRCh37
Build 36	3	49,733,691 - 49,733,841	RGD	NCBI36
Celera	3	49,723,378 - 49,723,528	RGD
Cytogenetic Map	3	p21.31	UniSTS
Cytogenetic Map	3	p24.3	UniSTS
Cytogenetic Map	3	p21	UniSTS
HuRef	3	49,817,663 - 49,817,813	UniSTS

D3S2901E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	49,761,751 - 49,761,982	UniSTS	GRCh37
Build 36	3	49,736,755 - 49,736,986	RGD	NCBI36
Celera	3	49,726,442 - 49,726,673	RGD
Cytogenetic Map	3	p21.31	UniSTS
HuRef	3	49,820,727 - 49,820,958	UniSTS

RH78461

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	49,759,029 - 49,759,192	UniSTS	GRCh37
Build 36	3	49,734,033 - 49,734,196	RGD	NCBI36
Celera	3	49,723,720 - 49,723,883	RGD
Cytogenetic Map	3	p21.31	UniSTS
Cytogenetic Map	3	p24.3	UniSTS
Cytogenetic Map	3	p21	UniSTS
HuRef	3	49,818,005 - 49,818,168	UniSTS
GeneMap99-GB4 RH Map	3	159.01	UniSTS
NCBI RH Map	3	486.1	UniSTS

A005X28

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	49,758,705 - 49,758,817	UniSTS	GRCh37
Build 36	3	49,733,709 - 49,733,821	RGD	NCBI36
Celera	3	49,723,396 - 49,723,508	RGD
Cytogenetic Map	3	p21.31	UniSTS
Cytogenetic Map	3	p24.3	UniSTS
Cytogenetic Map	3	p21	UniSTS
HuRef	3	49,817,681 - 49,817,793	UniSTS
GeneMap99-GB4 RH Map	3	159.24	UniSTS
NCBI RH Map	3	485.2	UniSTS

RH78233

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	49,758,479 - 49,758,685	UniSTS	GRCh37
Build 36	3	49,733,483 - 49,733,689	RGD	NCBI36
Celera	3	49,723,170 - 49,723,376	RGD
Cytogenetic Map	3	p21.31	UniSTS
Cytogenetic Map	3	p24.3	UniSTS
Cytogenetic Map	3	p21	UniSTS
HuRef	3	49,817,455 - 49,817,661	UniSTS
GeneMap99-GB4 RH Map	3	159.01	UniSTS
NCBI RH Map	3	486.1	UniSTS

WI-18664

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	49,761,728 - 49,761,855	UniSTS	GRCh37
Build 36	3	49,736,732 - 49,736,859	RGD	NCBI36
Celera	3	49,726,419 - 49,726,546	RGD
Cytogenetic Map	3	p21.31	UniSTS
HuRef	3	49,820,704 - 49,820,831	UniSTS
GeneMap99-GB4 RH Map	3	159.01	UniSTS
Whitehead-RH Map	3	198.3	UniSTS

A004P45

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	49,758,931 - 49,759,108	UniSTS	GRCh37
Build 36	3	49,733,935 - 49,734,112	RGD	NCBI36
Celera	3	49,723,622 - 49,723,799	RGD
Cytogenetic Map	3	p21.31	UniSTS
Cytogenetic Map	3	p24.3	UniSTS
Cytogenetic Map	3	p21	UniSTS
HuRef	3	49,817,907 - 49,818,084	UniSTS
GeneMap99-GB4 RH Map	3	159.24	UniSTS

RH47478

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	49,761,733 - 49,761,855	UniSTS	GRCh37
Build 36	3	49,736,737 - 49,736,859	RGD	NCBI36
Celera	3	49,726,424 - 49,726,546	RGD
Cytogenetic Map	3	p21.31	UniSTS
HuRef	3	49,820,709 - 49,820,831	UniSTS
GeneMap99-GB4 RH Map	3	158.79	UniSTS

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	5292
Count of miRNA genes:	1167
Interacting mature miRNAs:	1508
Transcripts:	ENST00000308375, ENST00000308388, ENST00000480687, ENST00000481959, ENST00000495627
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

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

1838

1597

1403

364

1046

206

3261

853

1634

115

1219

1412

171

1050

1951

Low

599

1394

238

180

900

179

1092

1344

2088

176

212

184

154

837

Below cutoff

127

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_033731	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_013334	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_021971	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC099668	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF135421	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK024319	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK026582	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK291700	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC001141	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC008033	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471055	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA411701	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HB882073	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HB899650	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC939482	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC957059	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000308375 ⟹ ENSP00000309092

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	3	49,719,924 - 49,723,951 (-)	Ensembl

RefSeq Acc Id:

ENST00000308388 ⟹ ENSP00000311130

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	3	49,719,916 - 49,723,951 (-)	Ensembl

RefSeq Acc Id:

ENST00000480687 ⟹ ENSP00000418565

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	3	49,716,844 - 49,723,951 (-)	Ensembl

RefSeq Acc Id:

ENST00000481959

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	3	49,722,732 - 49,723,943 (-)	Ensembl

RefSeq Acc Id:

ENST00000495627

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	3	49,722,992 - 49,723,916 (-)	Ensembl

RefSeq Acc Id:

ENST00000677393 ⟹ ENSP00000503880

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	3	49,720,335 - 49,723,951 (-)	Ensembl

RefSeq Acc Id:

ENST00000678010 ⟹ ENSP00000503176

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	3	49,720,616 - 49,723,921 (-)	Ensembl

RefSeq Acc Id:

ENST00000678208

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	3	49,720,350 - 49,723,943 (-)	Ensembl

RefSeq Acc Id:

ENST00000678853 ⟹ ENSP00000504692

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	3	49,720,348 - 49,723,866 (-)	Ensembl

RefSeq Acc Id:

NM_013334 ⟹ NP_037466

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	49,721,499 - 49,723,951 (-)	NCBI
GRCh37	3	49,758,909 - 49,761,407 (-)	NCBI
Build 36	3	49,733,936 - 49,736,388 (-)	NCBI Archive
Celera	3	49,723,623 - 49,726,075 (-)	RGD
HuRef	3	49,817,885 - 49,820,383 (-)	NCBI
CHM1_1	3	49,710,967 - 49,713,465 (-)	NCBI

Sequence:

show sequence

ACTGCCCGCGCCGGGTCCGGCCTGAGTTCGGGGCCAGCAGCCGTCTACCCGGTGTCGCGTTCTG
TGTTGTGGCGGCCCTGGATCCGGCGTCAGGGCGACCGGGCGGACGAGGTGGAGCCAGAGTCTGT
CAGGCGGGTTGGTGAAGGGCGCGGGGCCGGGCACGGCGTTGGGAGTGCGCGGCAGGGACCGGCC
AGGCGGGCTGCAGGCACCTCAGAGCCCGGGACACCCCCTCAACGTCCGCAGGCGCGATGAAGGC
ACTGATCTTAGTGGGGGGCTATGGGACGCGGCTACGGCCGCTGACGCTGAGCACCCCGAAGCCA
CTGGTGGACTTCTGCAATAAGCCCATCTTGCTGCACCAAGTGGAGGCGCTAGCCGCGGCAGGCG
TGGACCACGTGATCCTGGCCGTGAGCTACATGTCGCAGGTGCTGGAGAAGGAAATGAAGGCACA
GGAGCAGAGGCTGGGAATCCGAATCTCCATGTCCCATGAAGAGGAGCCTTTGGGGACAGCTGGG
CCCCTGGCGCTGGCCCGTGACCTACTCTCTGAGACTGCAGACCCTTTCTTCGTCCTCAACAGTG
ACGTGATCTGCGATTTCCCCTTCCAAGCCATGGTGCAGTTCCACCGGCACCATGGCCAGGAGGG
CTCCATCCTGGTGACCAAGGTGGAGGAACCCTCCAAGTACGGTGTGGTGGTGTGTGAGGCTGAC
ACAGGCCGCATTCACCGGTTCGTGGAGAAGCCACAGGTGTTTGTGTCCAATAAGATCAACGCAG
GCATGTACATCCTGAGCCCTGCAGTGCTGCGGCGCATCCAGCTGCAGCCTACGTCCATTGAGAA
GGAGGTCTTCCCCATTATGGCCAAGGAGGGGCAGCTATATGCCATGGAGTTACAGGGCTTCTGG
ATGGACATTGGGCAGCCCAAGGACTTCCTCACTGGCATGTGCCTCTTCCTGCAGTCACTGAGGC
AGAAGCAGCCTGAGCGGCTGTGCTCAGGCCCTGGCATTGTGGGCAACGTGCTGGTGGACCCAAG
TGCCCGCATCGGCCAGAACTGCAGCATTGGCCCCAATGTGAGCCTGGGACCTGGCGTGGTGGTC
GAAGATGGTGTGTGTATCCGGCGGTGCACGGTGCTGCGGGATGCCCGGATCCGTTCCCATTCCT
GGCTTGAGTCCTGCATTGTGGGCTGGCGCTGCCGCGTGGGTCAGTGGGTAAGCCTGTGGGCTGG
GCTGGGTGGGGAGAGGGGCGGGGAGTGTGCCTGCCTCCCTGACAAGGCCTATCCTCTCCTGGAG
GTACGCATGGAGAACGTGACAGTGCTGGGTGAGGACGTCATAGTTAATGATGAGCTCTACCTCA
ACGGAGCCAGCGTGCTGCCCCACAAGTCTATTGGCGAGTCAGTGCCAGAGCCTCGTATCATCAT
GTGAGGGGATGCAGTGGGGCTGGCCGAGCCCCGGTTTTCCCATCAGCAAGGGGAGTGCTGGCCT
GACACATCAGAAGACCCTGGACTTGTCATTATTTGTCTGGGGGGCACTGGGTGAAGCTGAAGCT
GTTGGACACCTGCCTTCTCATGTGGACATCATCTGGCAGGATCCCTGCTGGGCACACCCCACAA
ACCCCACTCCCTCAAGAAGGGCCAGGGCCAGGGCTGTATGGAATAATAATTTAATGCTCACTGT
GGCCCTGACTGAAAGTCAAGCTCA

hide sequence

RefSeq Acc Id:

NM_021971 ⟹ NP_068806

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	49,719,916 - 49,723,951 (-)	NCBI
GRCh37	3	49,758,909 - 49,761,407 (-)	NCBI
Build 36	3	49,733,936 - 49,736,388 (-)	NCBI Archive
Celera	3	49,723,623 - 49,726,075 (-)	RGD
HuRef	3	49,817,885 - 49,820,383 (-)	NCBI
CHM1_1	3	49,710,967 - 49,713,465 (-)	NCBI

Sequence:

show sequence

ACTGCCCGCGCCGGGTCCGGCCTGAGTTCGGGGCCAGCAGCCGTCTACCCGGTGTCGCGTTCTG
TGTTGTGGCGGCCCTGGATCCGGCGTCAGGGCGACCGGGCGGACGAGGTGGAGCCAGAGTCTGT
CAGGCGGGTTGGTGAAGGGCGCGGGGCCGGGCACGGCGTTGGGAGTGCGCGGCAGGGACCGGCC
AGGCGGGCTGCAGGCACCTCAGAGCCCGGGACACCCCCTCAACGTCCGCAGGCGCGATGAAGGC
ACTGATCTTAGTGGGGGGCTATGGGACGCGGCTACGGCCGCTGACGCTGAGCACCCCGAAGCCA
CTGGTGGACTTCTGCAATAAGCCCATCTTGCTGCACCAAGTGGAGGCGCTAGCCGCGGCAGGCG
TGGACCACGTGATCCTGGCCGTGAGCTACATGTCGCAGGTGCTGGAGAAGGAAATGAAGGCACA
GGAGCAGAGGCTGGGAATCCGAATCTCCATGTCCCATGAAGAGGAGCCTTTGGGGACAGCTGGG
CCCCTGGCGCTGGCCCGTGACCTACTCTCTGAGACTGCAGACCCTTTCTTCGTCCTCAACAGTG
ACGTGATCTGCGATTTCCCCTTCCAAGCCATGGTGCAGTTCCACCGGCACCATGGCCAGGAGGG
CTCCATCCTGGTGACCAAGGTGGAGGAACCCTCCAAGTACGGTGTGGTGGTGTGTGAGGCTGAC
ACAGGCCGCATTCACCGGTTCGTGGAGAAGCCACAGGTGTTTGTGTCCAATAAGATCAACGCAG
GCATGTACATCCTGAGCCCTGCAGTGCTGCGGCGCATCCAGCTGCAGCCTACGTCCATTGAGAA
GGAGGTCTTCCCCATTATGGCCAAGGAGGGGCAGCTATATGCCATGGAGTTACAGGGCTTCTGG
ATGGACATTGGGCAGCCCAAGGACTTCCTCACTGGCATGTGCCTCTTCCTGCAGTCACTGAGGC
AGAAGCAGCCTGAGCGGCTGTGCTCAGGCCCTGGCATTGTGGGCAACGTGCTGGTGGACCCAAG
TGCCCGCATCGGCCAGAACTGCAGCATTGGCCCCAATGTGAGCCTGGGACCTGGCGTGGTGGTC
GAAGATGGTGTGTGTATCCGGCGGTGCACGGTGCTGCGGGATGCCCGGATCCGTTCCCATTCCT
GGCTTGAGTCCTGCATTGTGGGCTGGCGCTGCCGCGTGGGTCAGTGGGTACGCATGGAGAACGT
GACAGTGCTGGGTGAGGACGTCATAGTTAATGATGAGCTCTACCTCAACGGAGCCAGCGTGCTG
CCCCACAAGTCTATTGGCGAGTCAGTGCCAGAGCCTCGTATCATCATGTGAGGGGATGCAGTGG
GGCTGGCCGAGCCCCGGTTTTCCCATCAGCAAGGGGAGTGCTGGCCTGACACATCAGAAGACCC
TGGACTTGTCATTATTTGTCTGGGGGGCACTGGGTGAAGCTGAAGCTGTTGGACACCTGCCTTC
TCATGTGGACATCATCTGGCAGGATCCCTGCTGGGCACACCCCACAAACCCCACTCCCTCAAGA
AGGGCCAGGGCCAGGGCTGTATGGAATAATAATTTAATGCTCACTGTGGCCCTGACTGAAAGTC
AAGCTCA

hide sequence

Protein Sequences


Protein RefSeqs	NP_037466	(Get FASTA)	NCBI Sequence Viewer
	NP_068806	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD38516	(Get FASTA)	NCBI Sequence Viewer
	AAH01141	(Get FASTA)	NCBI Sequence Viewer
	AAH08033	(Get FASTA)	NCBI Sequence Viewer
	BAB14882	(Get FASTA)	NCBI Sequence Viewer
	BAF84389	(Get FASTA)	NCBI Sequence Viewer
	CBF65311	(Get FASTA)	NCBI Sequence Viewer
	CBF78479	(Get FASTA)	NCBI Sequence Viewer
	CBU90182	(Get FASTA)	NCBI Sequence Viewer
	CBU98600	(Get FASTA)	NCBI Sequence Viewer
	EAW65012	(Get FASTA)	NCBI Sequence Viewer
	EAW65013	(Get FASTA)	NCBI Sequence Viewer
	EAW65014	(Get FASTA)	NCBI Sequence Viewer
	EAW65015	(Get FASTA)	NCBI Sequence Viewer
	Q9Y5P6	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:

NP_037466 ⟸ NM_013334

- Peptide Label:

isoform 1

- Sequence:

show sequence

MKALILVGGYGTRLRPLTLSTPKPLVDFCNKPILLHQVEALAAAGVDHVILAVSYMSQVLEKEM
KAQEQRLGIRISMSHEEEPLGTAGPLALARDLLSETADPFFVLNSDVICDFPFQAMVQFHRHHG
QEGSILVTKVEEPSKYGVVVCEADTGRIHRFVEKPQVFVSNKINAGMYILSPAVLRRIQLQPTS
IEKEVFPIMAKEGQLYAMELQGFWMDIGQPKDFLTGMCLFLQSLRQKQPERLCSGPGIVGNVLV
DPSARIGQNCSIGPNVSLGPGVVVEDGVCIRRCTVLRDARIRSHSWLESCIVGWRCRVGQWVSL
WAGLGGERGGECACLPDKAYPLLEVRMENVTVLGEDVIVNDELYLNGASVLPHKSIGESVPEPR
IIM

hide sequence

RefSeq Acc Id:

NP_068806 ⟸ NM_021971

- Peptide Label:

isoform 2

- Sequence:

show sequence

MKALILVGGYGTRLRPLTLSTPKPLVDFCNKPILLHQVEALAAAGVDHVILAVSYMSQVLEKEM
KAQEQRLGIRISMSHEEEPLGTAGPLALARDLLSETADPFFVLNSDVICDFPFQAMVQFHRHHG
QEGSILVTKVEEPSKYGVVVCEADTGRIHRFVEKPQVFVSNKINAGMYILSPAVLRRIQLQPTS
IEKEVFPIMAKEGQLYAMELQGFWMDIGQPKDFLTGMCLFLQSLRQKQPERLCSGPGIVGNVLV
DPSARIGQNCSIGPNVSLGPGVVVEDGVCIRRCTVLRDARIRSHSWLESCIVGWRCRVGQWVRM
ENVTVLGEDVIVNDELYLNGASVLPHKSIGESVPEPRIIM

hide sequence

RefSeq Acc Id:

ENSP00000311130 ⟸ ENST00000308388

RefSeq Acc Id:

ENSP00000309092 ⟸ ENST00000308375

RefSeq Acc Id:

ENSP00000418565 ⟸ ENST00000480687

RefSeq Acc Id:

ENSP00000503880 ⟸ ENST00000677393

RefSeq Acc Id:

ENSP00000503176 ⟸ ENST00000678010

RefSeq Acc Id:

ENSP00000504692 ⟸ ENST00000678853

Protein Domains

NTP_transferase

Promoters

RGD ID:

6864444

Promoter ID:

EPDNEW_H5386

Type:

initiation region

Name:

GMPPB_1

Description:

GDP-mannose pyrophosphorylase B

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	49,723,951 - 49,724,011	EPDNEW

RGD ID:

6801082

Promoter ID:

HG_KWN:45060

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:

ENST00000320431, NM_013334, NM_021971

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	3	49,736,036 - 49,737,187 (-)	MPROMDB

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_021971.4(GMPPB):c.551= (p.Gln184=)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000527815]	Chr3:49722606 [GRCh38] Chr3:49760039 [GRCh37] Chr3:3p21.31	benign
NM_021971.4(GMPPB):c.130-6T>G	single nucleotide variant	not provided [RCV000550123]	Chr3:49723478 [GRCh38] Chr3:49760911 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.331G>A (p.Val111Met)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000550887]	Chr3:49723043 [GRCh38] Chr3:49760476 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.392G>C (p.Gly131Ala)	single nucleotide variant	not provided [RCV000520596]	Chr3:49722982 [GRCh38] Chr3:49760415 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.456_457CA[1] (p.Thr153fs)	microsatellite	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000551670]	Chr3:49722698..49722699 [GRCh38] Chr3:49760131..49760132 [GRCh37] Chr3:3p21.31	pathogenic
GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	copy number loss	See cases [RCV000051511]	Chr3:49461000..55314500 [GRCh38] Chr3:49498433..55348528 [GRCh37] Chr3:49473437..55323568 [NCBI36] Chr3:3p21.31-14.3	pathogenic
NM_021971.2(GMPPB):c.1000G>A	single nucleotide variant	Congenital myasthenic syndrome [RCV000788090]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000054432]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000651273]\|Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 [RCV000054433]	Chr3:49721835 [GRCh38] Chr3:49759268 [GRCh37] Chr3:3p21.31	pathogenic\|likely pathogenic
NM_021971.4(GMPPB):c.220C>T (p.Arg74Ter)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000054434]	Chr3:49723293 [GRCh38] Chr3:49760726 [GRCh37] Chr3:3p21.31	pathogenic
NM_021971.4(GMPPB):c.64C>T (p.Pro22Ser)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 [RCV000054435]	Chr3:49723663 [GRCh38] Chr3:49761096 [GRCh37] Chr3:3p21.31	pathogenic
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys)	single nucleotide variant	Inborn genetic diseases [RCV000623944]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000200261]\|Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 [RCV000054436]\|Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 [RCV000054437]\|Muscular dystrophy-dystroglycanopathy [RCV000503216]	Chr3:49722604 [GRCh38] Chr3:49760037 [GRCh37] Chr3:3p21.31	pathogenic\|likely pathogenic
NM_021971.4(GMPPB):c.95C>T (p.Pro32Leu)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000684892]\|Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 [RCV000054438]\|Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 [RCV000209926]\|not provided [RCV000493576]	Chr3:49723632 [GRCh38] Chr3:49761065 [GRCh37] Chr3:3p21.31	pathogenic\|uncertain significance
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln)	single nucleotide variant	Inborn genetic diseases [RCV001266808]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000553832]\|Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 [RCV000054439]\|Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 [RCV000209893]\|not provided [RCV000520160]	Chr3:49722056 [GRCh38] Chr3:49759489 [GRCh37] Chr3:3p21.31	pathogenic\|uncertain significance
NM_021971.4(GMPPB):c.79G>C (p.Asp27His)	single nucleotide variant	Muscular dystrophy [RCV000610921]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000533184]\|Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 [RCV000054440]\|not provided [RCV000444697]	Chr3:49723648 [GRCh38] Chr3:49761081 [GRCh37] Chr3:3p21.31	pathogenic\|likely pathogenic
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile)	single nucleotide variant	Inborn genetic diseases [RCV000623470]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000651278]\|Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 [RCV000054441]\|Muscular dystrophy-dystroglycanopathy [RCV000501778]\|not provided [RCV000440664]	Chr3:49721847 [GRCh38] Chr3:49759280 [GRCh37] Chr3:3p21.31	pathogenic\|likely pathogenic\|uncertain significance
GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	copy number gain	See cases [RCV000133650]	Chr3:45879883..50749922 [GRCh38] Chr3:45921375..50787353 [GRCh37] Chr3:45896379..50762357 [NCBI36] Chr3:3p21.31-21.2	pathogenic
GRCh37/hg19 3p21.31(chr3:49758015-49829191)x3	copy number gain	Ductal breast carcinoma [RCV000207221]	Chr3:49758015..49829191 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.308C>T (p.Pro103Leu)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 [RCV000211125]	Chr3:49723066 [GRCh38] Chr3:49760499 [GRCh37] Chr3:3p21.31	pathogenic
NM_021971.4(GMPPB):c.760G>A (p.Val254Met)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 [RCV000211128]\|not provided [RCV000430158]	Chr3:49722239 [GRCh38] Chr3:49759672 [GRCh37] Chr3:3p21.31	pathogenic\|likely pathogenic
NM_021971.4(GMPPB):c.859C>T (p.Arg287Trp)	single nucleotide variant	Muscular dystrophy [RCV000609930]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000698947]\|Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 [RCV000211126]	Chr3:49722057 [GRCh38] Chr3:49759490 [GRCh37] Chr3:3p21.31	pathogenic\|likely pathogenic
GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	copy number gain	See cases [RCV000240519]	Chr3:37028313..49929220 [GRCh37] Chr3:3p22.2-21.31	likely pathogenic
NM_021971.4(GMPPB):c.640+11G>A	single nucleotide variant	not specified [RCV000246880]	Chr3:49722421 [GRCh38] Chr3:49759854 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.728G>A (p.Arg243Gln)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001226319]\|not specified [RCV000251834]	Chr3:49722271 [GRCh38] Chr3:49759704 [GRCh37] Chr3:3p21.31	likely benign\|uncertain significance
NM_021971.4(GMPPB):c.376C>G (p.His126Asp)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000539042]\|not specified [RCV000242290]	Chr3:49722998 [GRCh38] Chr3:49760431 [GRCh37] Chr3:3p21.31	benign
NM_021971.4(GMPPB):c.330C>T (p.Asp110=)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000533737]\|not specified [RCV000252042]	Chr3:49723044 [GRCh38] Chr3:49760477 [GRCh37] Chr3:3p21.31	benign
NM_021971.4(GMPPB):c.260-1G>A	single nucleotide variant	not provided [RCV000256064]	Chr3:49723115 [GRCh38] Chr3:49760548 [GRCh37] Chr3:3p21.31	pathogenic
NM_021971.4(GMPPB):c.204G>A (p.Glu68=)	single nucleotide variant	not specified [RCV000242508]	Chr3:49723398 [GRCh38] Chr3:49760831 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.211-15del	deletion	not specified [RCV000247292]	Chr3:49723317 [GRCh38] Chr3:49760750 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.607_609del (p.Lys203del)	deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000552493]	Chr3:49722463..49722465 [GRCh38] Chr3:49759896..49759898 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.1048G>A (p.Gly350Ser)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001081525]\|not provided [RCV000726214]\|not specified [RCV000391570]	Chr3:49721787 [GRCh38] Chr3:49759220 [GRCh37] Chr3:3p21.31	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_021971.4(GMPPB):c.931C>T (p.Arg311Cys)	single nucleotide variant	Inborn genetic diseases [RCV000624021]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000529420]\|not provided [RCV000522572]	Chr3:49721985 [GRCh38] Chr3:49759418 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.554G>A (p.Arg185His)	single nucleotide variant	not provided [RCV000730511]	Chr3:49722603 [GRCh38] Chr3:49760036 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.225C>T (p.Ile75=)	single nucleotide variant	not specified [RCV000604622]	Chr3:49723288 [GRCh38] Chr3:49760721 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.640+1G>C	single nucleotide variant	not provided [RCV000523645]	Chr3:49722431 [GRCh38] Chr3:49759864 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_021971.4(GMPPB):c.1077C>G (p.Ile359Met)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000537490]	Chr3:49721758 [GRCh38] Chr3:49759191 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.365_366dup (p.Phe123fs)	duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000527021]	Chr3:49723007..49723008 [GRCh38] Chr3:49760440..49760441 [GRCh37] Chr3:3p21.31	pathogenic
NM_021971.4(GMPPB):c.562-9C>A	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000540404]\|not specified [RCV000610990]	Chr3:49722519 [GRCh38] Chr3:49759952 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.952-14A>G	single nucleotide variant	not specified [RCV000413124]	Chr3:49721897 [GRCh38] Chr3:49759330 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.529A>G (p.Ile177Val)	single nucleotide variant	Global developmental delay [RCV000449525]	Chr3:49722628 [GRCh38] Chr3:49760061 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.403-6A>G	single nucleotide variant	not specified [RCV000445035]	Chr3:49722760 [GRCh38] Chr3:49760193 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.309T>C (p.Pro103=)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000557516]\|not specified [RCV000438003]	Chr3:49723065 [GRCh38] Chr3:49760498 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.403-16C>T	single nucleotide variant	not specified [RCV000441928]	Chr3:49722770 [GRCh38] Chr3:49760203 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.-29G>C	single nucleotide variant	not specified [RCV000425281]	Chr3:49723755 [GRCh38] Chr3:49761188 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.1017C>T (p.Asn339=)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000651281]\|not specified [RCV000436069]	Chr3:49721818 [GRCh38] Chr3:49759251 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.702G>A (p.Gln234=)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000875949]\|not specified [RCV000433903]	Chr3:49722297 [GRCh38] Chr3:49759730 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.951+9G>A	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000546590]\|not provided [RCV001200164]\|not specified [RCV000427085]	Chr3:49721956 [GRCh38] Chr3:49759389 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.1041_1043dup (p.Ser348dup)	duplication	not provided [RCV000483980]	Chr3:49721791..49721792 [GRCh38] Chr3:49759224..49759225 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.787G>A (p.Gly263Ser)	single nucleotide variant	not provided [RCV000480038]	Chr3:49722129 [GRCh38] Chr3:49759562 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.1018G>A (p.Gly340Arg)	single nucleotide variant	not provided [RCV000478147]	Chr3:49721817 [GRCh38] Chr3:49759250 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.210G>A (p.Arg70=)	single nucleotide variant	not provided [RCV000497846]	Chr3:49723392 [GRCh38] Chr3:49760825 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.967G>A (p.Val323Met)	single nucleotide variant	not provided [RCV000492872]	Chr3:49721868 [GRCh38] Chr3:49759301 [GRCh37] Chr3:3p21.31	uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	copy number gain	See cases [RCV000511055]	Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29	pathogenic
NM_021971.4(GMPPB):c.831C>T (p.Gly277=)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000541214]	Chr3:49722085 [GRCh38] Chr3:49759518 [GRCh37] Chr3:3p21.31	uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	copy number gain	See cases [RCV000512358]	Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29	pathogenic
NM_021971.4(GMPPB):c.453T>C (p.Ala151=)	single nucleotide variant	not specified [RCV000609542]	Chr3:49722704 [GRCh38] Chr3:49760137 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.561+15G>A	single nucleotide variant	not specified [RCV000608318]	Chr3:49722581 [GRCh38] Chr3:49760014 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.477C>T (p.Phe159=)	single nucleotide variant	not specified [RCV000611870]	Chr3:49722680 [GRCh38] Chr3:49760113 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.210+9_210+10del	microsatellite	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000651280]	Chr3:49723382..49723383 [GRCh38] Chr3:49760815..49760816 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.459A>G (p.Thr153=)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000651279]	Chr3:49722698 [GRCh38] Chr3:49760131 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.956G>A (p.Arg319His)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000651277]	Chr3:49721879 [GRCh38] Chr3:49759312 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.374G>A (p.Arg125Gln)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000651276]	Chr3:49723000 [GRCh38] Chr3:49760433 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.878G>A (p.Arg293Gln)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000651275]	Chr3:49722038 [GRCh38] Chr3:49759471 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.218T>C (p.Ile73Thr)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000651274]	Chr3:49723295 [GRCh38] Chr3:49760728 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.877C>T (p.Arg293Trp)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000651272]	Chr3:49722039 [GRCh38] Chr3:49759472 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.1009T>C (p.Tyr337His)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000651271]	Chr3:49721826 [GRCh38] Chr3:49759259 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.688T>C (p.Cys230Arg)	single nucleotide variant	not provided [RCV000512707]	Chr3:49722311 [GRCh38] Chr3:49759744 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.569C>G (p.Pro190Arg)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000686689]	Chr3:49722503 [GRCh38] Chr3:49759936 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.358A>G (p.Met120Val)	single nucleotide variant	Elevated serum creatine phosphokinase [RCV000678462]	Chr3:49723016 [GRCh38] Chr3:49760449 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_021971.4(GMPPB):c.629T>C (p.Met210Thr)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000687589]	Chr3:49722443 [GRCh38] Chr3:49759876 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.215G>A (p.Gly72Glu)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000685850]	Chr3:49723298 [GRCh38] Chr3:49760731 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.790C>T (p.Gln264Ter)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000692931]	Chr3:49722126 [GRCh38] Chr3:49759559 [GRCh37] Chr3:3p21.31	pathogenic
NM_021971.4(GMPPB):c.525G>T (p.Met175Ile)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000693068]\|not provided [RCV000729679]	Chr3:49722632 [GRCh38] Chr3:49760065 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.955C>T (p.Arg319Cys)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000690678]	Chr3:49721880 [GRCh38] Chr3:49759313 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.402+1G>A	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000690893]	Chr3:49722971 [GRCh38] Chr3:49760404 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_021971.4(GMPPB):c.1070G>A (p.Arg357His)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000705475]	Chr3:49721765 [GRCh38] Chr3:49759198 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_021971.4(GMPPB):c.953T>C (p.Val318Ala)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000691392]	Chr3:49721882 [GRCh38] Chr3:49759315 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.758A>G (p.Asn253Ser)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000705546]	Chr3:49722241 [GRCh38] Chr3:49759674 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.792G>C (p.Gln264His)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000695460]	Chr3:49722124 [GRCh38] Chr3:49759557 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000698360]	Chr3:49722343 [GRCh38] Chr3:49759776 [GRCh37] Chr3:3p21.31	pathogenic
NM_021971.4(GMPPB):c.62C>A (p.Thr21Asn)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000697038]	Chr3:49723665 [GRCh38] Chr3:49761098 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.287_307del (p.Leu96_Asp102del)	deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000686546]	Chr3:49723067..49723087 [GRCh38] Chr3:49760500..49760520 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.535A>G (p.Ser179Gly)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001065000]	Chr3:49722622 [GRCh38] Chr3:49760055 [GRCh37] Chr3:3p21.31	uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3	copy number gain	not provided [RCV000742133]	Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3	copy number gain	not provided [RCV000742138]	Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29	pathogenic
NM_021971.4(GMPPB):c.490C>T (p.Gln164Ter)	single nucleotide variant	not provided [RCV000760617]	Chr3:49722667 [GRCh38] Chr3:49760100 [GRCh37] Chr3:3p21.31	pathogenic
NM_021971.4(GMPPB):c.769-9C>T	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000899405]	Chr3:49722156 [GRCh38] Chr3:49759589 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.486G>A (p.Lys162=)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000981339]	Chr3:49722671 [GRCh38] Chr3:49760104 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.641-19_641-9del	deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001061705]	Chr3:49722367..49722377 [GRCh38] Chr3:49759800..49759810 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.1016A>G (p.Asn339Ser)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001036803]	Chr3:49721819 [GRCh38] Chr3:49759252 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.433G>A (p.Gly145Ser)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001060368]	Chr3:49722724 [GRCh38] Chr3:49760157 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.759C>T (p.Asn253=)	single nucleotide variant	not provided [RCV000898061]	Chr3:49722240 [GRCh38] Chr3:49759673 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.531C>A (p.Ile177=)	single nucleotide variant	not provided [RCV000873084]	Chr3:49722626 [GRCh38] Chr3:49760059 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.918C>T (p.Cys306=)	single nucleotide variant	not provided [RCV000919558]	Chr3:49721998 [GRCh38] Chr3:49759431 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.129+7C>A	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000893922]	Chr3:49723591 [GRCh38] Chr3:49761024 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.939C>T (p.Arg313=)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000887747]	Chr3:49721977 [GRCh38] Chr3:49759410 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.951+9G>T	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000937474]	Chr3:49721956 [GRCh38] Chr3:49759389 [GRCh37] Chr3:3p21.31	likely benign
NM_022064.5(RNF123):c.3596G>C (p.Gly1199Ala)	single nucleotide variant	not provided [RCV000884425]	Chr3:49720606 [GRCh38] Chr3:49758039 [GRCh37] Chr3:3p21.31	benign
GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	copy number gain	not provided [RCV000767704]	Chr3:45153770..53878616 [GRCh37] Chr3:3p21.31-21.1	pathogenic
NM_021971.4(GMPPB):c.395C>G (p.Ser132Cys)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000793053]	Chr3:49722979 [GRCh38] Chr3:49760412 [GRCh37] Chr3:3p21.31	likely pathogenic\|uncertain significance
NM_021971.4(GMPPB):c.812A>G (p.Asn271Ser)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000799524]	Chr3:49722104 [GRCh38] Chr3:49759537 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.516C>T (p.Asn172=)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001079770]\|not provided [RCV000839682]	Chr3:49722641 [GRCh38] Chr3:49760074 [GRCh37] Chr3:3p21.31	benign\|likely benign
NM_021971.4(GMPPB):c.109C>T (p.Gln37Ter)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000801856]	Chr3:49723618 [GRCh38] Chr3:49761051 [GRCh37] Chr3:3p21.31	pathogenic
NM_021971.4(GMPPB):c.271_283del (p.Ala91fs)	deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000821842]	Chr3:49723091..49723103 [GRCh38] Chr3:49760524..49760536 [GRCh37] Chr3:3p21.31	pathogenic
NM_013334.3(GMPPB):c.-446G>A	single nucleotide variant	not provided [RCV000827866]	Chr3:49724172 [GRCh38] Chr3:49761605 [GRCh37] Chr3:3p21.31	benign
NM_021971.4(GMPPB):c.116A>G (p.Glu39Gly)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000800593]	Chr3:49723611 [GRCh38] Chr3:49761044 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.937C>T (p.Arg313Cys)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000796984]	Chr3:49721979 [GRCh38] Chr3:49759412 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.160A>C (p.Ser54Arg)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000823166]	Chr3:49723442 [GRCh38] Chr3:49760875 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.863G>C (p.Arg288Pro)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000817393]	Chr3:49722053 [GRCh38] Chr3:49759486 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.473G>C (p.Arg158Pro)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000814700]	Chr3:49722684 [GRCh38] Chr3:49760117 [GRCh37] Chr3:3p21.31	uncertain significance
NM_013334.3(GMPPB):c.-454G>A	single nucleotide variant	not provided [RCV000827865]	Chr3:49724180 [GRCh38] Chr3:49761613 [GRCh37] Chr3:3p21.31	benign
NM_013334.3(GMPPB):c.-412C>T	single nucleotide variant	not provided [RCV000827868]	Chr3:49724138 [GRCh38] Chr3:49761571 [GRCh37] Chr3:3p21.31	benign
NM_021971.4(GMPPB):c.640+19A>G	single nucleotide variant	not provided [RCV000828076]	Chr3:49722413 [GRCh38] Chr3:49759846 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.94C>T (p.Pro32Ser)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000810959]	Chr3:49723633 [GRCh38] Chr3:49761066 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.757A>G (p.Asn253Asp)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000801719]	Chr3:49722242 [GRCh38] Chr3:49759675 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.640+1G>A	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000794094]	Chr3:49722431 [GRCh38] Chr3:49759864 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_021971.4(GMPPB):c.458C>T (p.Thr153Ile)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000815814]\|Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 [RCV000993849]	Chr3:49722699 [GRCh38] Chr3:49760132 [GRCh37] Chr3:3p21.31	pathogenic\|likely pathogenic\|uncertain significance
NM_021971.4(GMPPB):c.304G>C (p.Asp102His)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000797803]	Chr3:49723070 [GRCh38] Chr3:49760503 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.621A>G (p.Leu207=)	single nucleotide variant	not provided [RCV000842065]	Chr3:49722451 [GRCh38] Chr3:49759884 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.589G>T (p.Val197Phe)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001046286]	Chr3:49722483 [GRCh38] Chr3:49759916 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.434G>C (p.Gly145Ala)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001216870]	Chr3:49722723 [GRCh38] Chr3:49760156 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.510G>C (p.Lys170Asn)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001208227]	Chr3:49722647 [GRCh38] Chr3:49760080 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.299C>T (p.Thr100Ile)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001224623]	Chr3:49723075 [GRCh38] Chr3:49760508 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.215G>C (p.Gly72Ala)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001232036]	Chr3:49723298 [GRCh38] Chr3:49760731 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.728_746delinsACAGA (p.Arg243fs)	indel	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001241608]	Chr3:49722253..49722271 [GRCh38] Chr3:49759686..49759704 [GRCh37] Chr3:3p21.31	pathogenic
NM_021971.4(GMPPB):c.135C>T (p.Gly45=)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001224538]	Chr3:49723467 [GRCh38] Chr3:49760900 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.129+5G>A	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001246944]	Chr3:49723593 [GRCh38] Chr3:49761026 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.684dup (p.Met229fs)	duplication	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 [RCV001197852]	Chr3:49722314..49722315 [GRCh38] Chr3:49759747..49759748 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_021971.4(GMPPB):c.806G>A (p.Gly269Asp)	single nucleotide variant	not provided [RCV001200165]	Chr3:49722110 [GRCh38] Chr3:49759543 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.729G>A (p.Arg243=)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000875489]	Chr3:49722270 [GRCh38] Chr3:49759703 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.211-7C>T	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV000953822]	Chr3:49723309 [GRCh38] Chr3:49760742 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.403-8G>A	single nucleotide variant	not provided [RCV000946299]	Chr3:49722762 [GRCh38] Chr3:49760195 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.478G>A (p.Val160Met)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001226181]	Chr3:49722679 [GRCh38] Chr3:49760112 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.288_290dup (p.Leu97dup)	duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001208354]	Chr3:49723083..49723084 [GRCh38] Chr3:49760516..49760517 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.870G>A (p.Thr290=)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001245121]	Chr3:49722046 [GRCh38] Chr3:49759479 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.951+28_951+29insGGGGGGGGGC	insertion	not provided [RCV001170008]	Chr3:49721936..49721937 [GRCh38] Chr3:49759369..49759370 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_021971.4(GMPPB):c.402+8G>A	single nucleotide variant	not provided [RCV000935673]	Chr3:49722964 [GRCh38] Chr3:49760397 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.966C>T (p.Asn322=)	single nucleotide variant	not provided [RCV000913719]	Chr3:49721869 [GRCh38] Chr3:49759302 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.315C>T (p.Phe105=)	single nucleotide variant	not provided [RCV000935503]	Chr3:49723059 [GRCh38] Chr3:49760492 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.300T>C (p.Thr100=)	single nucleotide variant	not provided [RCV000889278]	Chr3:49723074 [GRCh38] Chr3:49760507 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.940G>T (p.Val314Leu)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001071870]	Chr3:49721976 [GRCh38] Chr3:49759409 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.478G>C (p.Val160Leu)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001070364]	Chr3:49722679 [GRCh38] Chr3:49760112 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.997A>T (p.Asn333Tyr)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001203688]	Chr3:49721838 [GRCh38] Chr3:49759271 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.388_389delinsAG (p.Glu130Arg)	indel	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001216408]	Chr3:49722985..49722986 [GRCh38] Chr3:49760418..49760419 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.727C>T (p.Arg243Trp)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001036720]	Chr3:49722272 [GRCh38] Chr3:49759705 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.1040A>G (p.Lys347Arg)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001051321]	Chr3:49721795 [GRCh38] Chr3:49759228 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.356C>A (p.Ala119Asp)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001213231]	Chr3:49723018 [GRCh38] Chr3:49760451 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.781C>T (p.Arg261Cys)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001054940]	Chr3:49722135 [GRCh38] Chr3:49759568 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.128C>T (p.Ala43Val)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001055548]	Chr3:49723599 [GRCh38] Chr3:49761032 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.887G>A (p.Arg296Gln)	single nucleotide variant	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [RCV001056881]	Chr3:49722029 [GRCh38] Chr3:49759462 [GRCh37] Chr3:3p21.31	uncertain significance
GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	copy number loss	not provided [RCV001259686]	Chr3:48807193..51363558 [GRCh37] Chr3:3p21.31-21.2	pathogenic
NM_021971.4(GMPPB):c.432C>T (p.Tyr144=)	single nucleotide variant	not provided [RCV001257177]	Chr3:49722725 [GRCh38] Chr3:49760158 [GRCh37] Chr3:3p21.31	likely benign
NM_021971.4(GMPPB):c.1027G>C (p.Val343Leu)	single nucleotide variant	Inborn genetic diseases [RCV001266809]	Chr3:49721808 [GRCh38] Chr3:49759241 [GRCh37] Chr3:3p21.31	likely pathogenic
NM_021971.4(GMPPB):c.966C>G (p.Asn322Lys)	single nucleotide variant	Inborn genetic diseases [RCV001267546]	Chr3:49721869 [GRCh38] Chr3:49759302 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.84C>A (p.Phe28Leu)	single nucleotide variant	Inborn genetic diseases [RCV001267547]	Chr3:49723643 [GRCh38] Chr3:49761076 [GRCh37] Chr3:3p21.31	uncertain significance
NM_021971.4(GMPPB):c.1004A>T (p.Glu335Val)	single nucleotide variant	Elevated serum creatine phosphokinase [RCV001281580]	Chr3:49721831 [GRCh38] Chr3:49759264 [GRCh37] Chr3:3p21.31	uncertain significance

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:22932	AgrOrtholog
COSMIC	GMPPB	COSMIC
Ensembl Genes	ENSG00000173540	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein	ENSP00000309092	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000311130	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000418565	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000308375	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000308388	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000480687	UniProtKB/Swiss-Prot
Gene3D-CATH	3.90.550.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000173540	GTEx
HGNC ID	HGNC:22932	ENTREZGENE
Human Proteome Map	GMPPB	Human Proteome Map
InterPro	Hexapep	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Hexapep_transf_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	NTP_transferase_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Nucleotide-diphossugar_trans	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Trimer_LpxA-like_sf	UniProtKB/TrEMBL
KEGG Report	hsa:29925	UniProtKB/Swiss-Prot
NCBI Gene	29925	ENTREZGENE
OMIM	615320	OMIM
	615350	OMIM
	615351	OMIM
	615352	OMIM
Pfam	Hexapep	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	NTP_transferase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134875590	PharmGKB
PROSITE	HEXAPEP_TRANSFERASES	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF51161	UniProtKB/TrEMBL
	SSF53448	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A024R329_HUMAN	UniProtKB/TrEMBL
	GMPPB_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary	A8K6N5	UniProtKB/Swiss-Prot
	Q9H7U3	UniProtKB/Swiss-Prot

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)