GMPPB (GDP-mannose pyrophosphorylase B) - Rat Genome Database
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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 ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl349,716,844 - 49,723,973 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl349,716,844 - 49,723,951 (-)EnsemblGRCh38hg38GRCh38
GRCh38349,719,916 - 49,723,951 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37349,757,349 - 49,761,384 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36349,733,936 - 49,736,388 (-)NCBINCBI36hg18NCBI36
Celera349,723,623 - 49,726,075 (-)NCBI
Cytogenetic Map3p21.31NCBI
HuRef349,817,885 - 49,820,383 (-)NCBIHuRef
CHM1_1349,710,967 - 49,713,465 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IDA)

Molecular Function

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

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 AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl349,716,844 - 49,723,973 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl349,716,844 - 49,723,951 (-)EnsemblGRCh38hg38GRCh38
GRCh38349,719,916 - 49,723,951 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37349,757,349 - 49,761,384 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36349,733,936 - 49,736,388 (-)NCBINCBI36hg18NCBI36
Celera349,723,623 - 49,726,075 (-)NCBI
Cytogenetic Map3p21.31NCBI
HuRef349,817,885 - 49,820,383 (-)NCBIHuRef
CHM1_1349,710,967 - 49,713,465 (-)NCBICHM1_1
Gmppb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399107,926,438 - 107,929,120 (+)NCBIGRCm39mm39
GRCm39 Ensembl9107,926,441 - 107,930,000 (+)Ensembl
GRCm389108,049,239 - 108,051,923 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9108,049,242 - 108,052,801 (+)EnsemblGRCm38mm10GRCm38
MGSCv379107,951,621 - 107,954,267 (+)NCBIGRCm37mm9NCBIm37
MGSCv369107,907,410 - 107,909,802 (+)NCBImm8
Celera9107,659,146 - 107,661,786 (+)NCBICelera
Cytogenetic Map9F1NCBI
Gmppb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.28108,737,429 - 108,767,286 (+)NCBI
Rnor_6.0 Ensembl8116,826,680 - 116,856,159 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.08116,826,251 - 116,856,159 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.08116,180,562 - 116,210,240 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48113,317,165 - 113,346,646 (+)NCBIRGSC3.4rn4RGSC3.4
Celera8108,042,518 - 108,071,499 (+)NCBICelera
Cytogenetic Map8q32NCBI
Gmppb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555321,622,605 - 1,624,900 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555321,622,605 - 1,624,900 (-)NCBIChiLan1.0ChiLan1.0
GMPPB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1350,889,479 - 50,891,969 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl350,889,479 - 50,891,969 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0349,653,638 - 49,656,135 (-)NCBIMhudiblu_PPA_v0panPan3
GMPPB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12039,550,799 - 39,553,045 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2039,550,799 - 39,553,045 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2039,471,723 - 39,473,969 (+)NCBI
ROS_Cfam_1.02039,908,319 - 39,910,564 (+)NCBI
UMICH_Zoey_3.12039,275,391 - 39,277,636 (+)NCBI
UNSW_CanFamBas_1.02039,678,760 - 39,681,006 (+)NCBI
UU_Cfam_GSD_1.02039,958,590 - 39,960,836 (+)NCBI
Gmppb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_ltri_2NW_02440560264,574,309 - 64,577,997 (-)NCBI
SpeTri2.0NW_0049365291,336,002 - 1,338,615 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GMPPB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1332,246,468 - 32,253,148 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11332,246,471 - 32,253,162 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21335,425,664 - 35,432,367 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GMPPB
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12211,116,497 - 11,118,980 (-)NCBI
ChlSab1.1 Ensembl2211,116,752 - 11,118,926 (-)Ensembl
Gmppb
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247303,645,768 - 3,648,157 (-)NCBI

Position Markers
RH91732  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37349,758,666 - 49,758,920UniSTSGRCh37
Build 36349,733,670 - 49,733,924RGDNCBI36
Celera349,723,357 - 49,723,611RGD
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map3p21UniSTS
HuRef349,817,642 - 49,817,896UniSTS
GeneMap99-GB4 RH Map3159.24UniSTS
RH15941  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37349,758,748 - 49,758,931UniSTSGRCh37
Build 36349,733,752 - 49,733,935RGDNCBI36
Celera349,723,439 - 49,723,622RGD
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map3p21UniSTS
HuRef349,817,724 - 49,817,907UniSTS
G54105  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37349,758,687 - 49,758,837UniSTSGRCh37
Build 36349,733,691 - 49,733,841RGDNCBI36
Celera349,723,378 - 49,723,528RGD
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map3p21UniSTS
HuRef349,817,663 - 49,817,813UniSTS
D3S2901E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37349,761,751 - 49,761,982UniSTSGRCh37
Build 36349,736,755 - 49,736,986RGDNCBI36
Celera349,726,442 - 49,726,673RGD
Cytogenetic Map3p21.31UniSTS
HuRef349,820,727 - 49,820,958UniSTS
RH78461  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37349,759,029 - 49,759,192UniSTSGRCh37
Build 36349,734,033 - 49,734,196RGDNCBI36
Celera349,723,720 - 49,723,883RGD
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map3p21UniSTS
HuRef349,818,005 - 49,818,168UniSTS
GeneMap99-GB4 RH Map3159.01UniSTS
NCBI RH Map3486.1UniSTS
A005X28  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37349,758,705 - 49,758,817UniSTSGRCh37
Build 36349,733,709 - 49,733,821RGDNCBI36
Celera349,723,396 - 49,723,508RGD
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map3p21UniSTS
HuRef349,817,681 - 49,817,793UniSTS
GeneMap99-GB4 RH Map3159.24UniSTS
NCBI RH Map3485.2UniSTS
RH78233  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37349,758,479 - 49,758,685UniSTSGRCh37
Build 36349,733,483 - 49,733,689RGDNCBI36
Celera349,723,170 - 49,723,376RGD
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map3p21UniSTS
HuRef349,817,455 - 49,817,661UniSTS
GeneMap99-GB4 RH Map3159.01UniSTS
NCBI RH Map3486.1UniSTS
WI-18664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37349,761,728 - 49,761,855UniSTSGRCh37
Build 36349,736,732 - 49,736,859RGDNCBI36
Celera349,726,419 - 49,726,546RGD
Cytogenetic Map3p21.31UniSTS
HuRef349,820,704 - 49,820,831UniSTS
GeneMap99-GB4 RH Map3159.01UniSTS
Whitehead-RH Map3198.3UniSTS
A004P45  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37349,758,931 - 49,759,108UniSTSGRCh37
Build 36349,733,935 - 49,734,112RGDNCBI36
Celera349,723,622 - 49,723,799RGD
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map3p21UniSTS
HuRef349,817,907 - 49,818,084UniSTS
GeneMap99-GB4 RH Map3159.24UniSTS
RH47478  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37349,761,733 - 49,761,855UniSTSGRCh37
Build 36349,736,737 - 49,736,859RGDNCBI36
Celera349,726,424 - 49,726,546RGD
Cytogenetic Map3p21.31UniSTS
HuRef349,820,709 - 49,820,831UniSTS
GeneMap99-GB4 RH Map3158.79UniSTS

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 5 2
Low 599 1394 238 180 900 179 1092 1344 2088 176 212 184 4 1 154 837 1
Below cutoff 2 85 80 4 80 2 12 127 29 17

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000308375   ⟹   ENSP00000309092
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl349,719,924 - 49,723,951 (-)Ensembl
RefSeq Acc Id: ENST00000308388   ⟹   ENSP00000311130
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl349,719,916 - 49,723,951 (-)Ensembl
RefSeq Acc Id: ENST00000480687   ⟹   ENSP00000418565
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl349,716,844 - 49,723,951 (-)Ensembl
RefSeq Acc Id: ENST00000481959
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl349,722,732 - 49,723,943 (-)Ensembl
RefSeq Acc Id: ENST00000495627
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl349,722,992 - 49,723,916 (-)Ensembl
RefSeq Acc Id: ENST00000677393   ⟹   ENSP00000503880
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl349,720,335 - 49,723,951 (-)Ensembl
RefSeq Acc Id: ENST00000678010   ⟹   ENSP00000503176
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl349,720,616 - 49,723,921 (-)Ensembl
RefSeq Acc Id: ENST00000678208
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl349,720,350 - 49,723,943 (-)Ensembl
RefSeq Acc Id: ENST00000678853   ⟹   ENSP00000504692
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl349,720,348 - 49,723,866 (-)Ensembl
RefSeq Acc Id: NM_013334   ⟹   NP_037466
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38349,721,499 - 49,723,951 (-)NCBI
GRCh37349,758,909 - 49,761,407 (-)NCBI
Build 36349,733,936 - 49,736,388 (-)NCBI Archive
Celera349,723,623 - 49,726,075 (-)RGD
HuRef349,817,885 - 49,820,383 (-)NCBI
CHM1_1349,710,967 - 49,713,465 (-)NCBI
Sequence:
RefSeq Acc Id: NM_021971   ⟹   NP_068806
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38349,719,916 - 49,723,951 (-)NCBI
GRCh37349,758,909 - 49,761,407 (-)NCBI
Build 36349,733,936 - 49,736,388 (-)NCBI Archive
Celera349,723,623 - 49,726,075 (-)RGD
HuRef349,817,885 - 49,820,383 (-)NCBI
CHM1_1349,710,967 - 49,713,465 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_037466   ⟸   NM_013334
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: NP_068806   ⟸   NM_021971
- Peptide Label: isoform 2
- 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 AssemblyChrPosition (strand)Source
GRCh38349,723,951 - 49,724,011EPDNEW
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 AssemblyChrPosition (strand)Source
Build 36349,736,036 - 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

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