NAGA (alpha-N-acetylgalactosaminidase) - Rat Genome Database

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Gene: NAGA (alpha-N-acetylgalactosaminidase) Homo sapiens
Analyze
Symbol: NAGA
Name: alpha-N-acetylgalactosaminidase
RGD ID: 1314403
HGNC Page HGNC
Description: Enables alpha-N-acetylgalactosaminidase activity and protein homodimerization activity. Involved in carbohydrate catabolic process and glycolipid catabolic process. Located in extracellular exosome. Implicated in angiokeratoma and neuroaxonal dystrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Acetylgalactosaminidase, alpha-N- (alpha-galactosidase B); alpha-galactosidase B; D22S674; GALB; N-acetylgalactosaminidase, alpha-
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 Ensembl2242,058,334 - 42,070,842 (-)EnsemblGRCh38hg38GRCh38
GRCh382242,058,334 - 42,070,842 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,454,338 - 42,466,846 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,784,331 - 40,796,719 (-)NCBINCBI36hg18NCBI36
Build 342240,778,884 - 40,791,273NCBI
Celera2226,260,520 - 26,273,049 (-)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2225,420,503 - 25,433,033 (-)NCBIHuRef
CHM1_12242,414,453 - 42,426,959 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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

Human Phenotype
Abnormal brainstem morphology  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of the eye  (IAGP)
Adult onset  (IAGP)
Aminoaciduria  (IAGP)
Angiokeratoma corporis diffusum  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Autism  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axonal degeneration  (IAGP)
Cardiomegaly  (IAGP)
Cataract  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Coarse facial features  (IAGP)
Cognitive impairment  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Distal muscle weakness  (IAGP)
Distal sensory impairment  (IAGP)
Distal sensory impairment of all modalities  (IAGP)
Dry skin  (IAGP)
Fetal akinesia sequence  (IAGP)
Generalized amyotrophy  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Hepatomegaly  (IAGP)
Hyperkeratosis  (IAGP)
Hyperreflexia  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypotonia  (IAGP)
Increased urinary O-linked sialopeptides  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, severe  (IAGP)
Lip telangiectasia  (IAGP)
Lymphedema  (IAGP)
Muscle weakness  (IAGP)
Myoclonus  (IAGP)
Nystagmus  (IAGP)
Opacification of the corneal stroma  (IAGP)
Optic atrophy  (IAGP)
Osteopenia  (IAGP)
Papule  (IAGP)
Paresthesia  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peripheral neuropathy  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Sensory neuropathy  (IAGP)
Spasticity  (IAGP)
Strabismus  (IAGP)
Subcutaneous nodule  (IAGP)
Telangiectasia of the oral mucosa  (IAGP)
Telangiectasia of the skin  (IAGP)
Thick lower lip vermilion  (IAGP)
Thick vermilion border  (IAGP)
Tinnitus  (IAGP)
Vertigo  (IAGP)
White mater abnormalities in the posterior periventricular region  (IAGP)
References

Additional References at PubMed
PMID:1646157   PMID:2122119   PMID:2174888   PMID:2256909   PMID:2372288   PMID:2551294   PMID:7707696   PMID:8071745   PMID:8782044   PMID:9252785   PMID:9741689   PMID:10360181  
PMID:10591208   PMID:10704524   PMID:11251574   PMID:12062184   PMID:12477932   PMID:15461802   PMID:15489334   PMID:15619430   PMID:17171432   PMID:19394758   PMID:19683538   PMID:19853240  
PMID:20444686   PMID:21832049   PMID:21873635   PMID:22268729   PMID:23376485   PMID:23533145   PMID:24934276   PMID:25056061   PMID:25798074   PMID:26186194   PMID:26344197   PMID:27138754  
PMID:28514442   PMID:31468281  


Genomics

Comparative Map Data
NAGA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2242,058,334 - 42,070,842 (-)EnsemblGRCh38hg38GRCh38
GRCh382242,058,334 - 42,070,842 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372242,454,338 - 42,466,846 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,784,331 - 40,796,719 (-)NCBINCBI36hg18NCBI36
Build 342240,778,884 - 40,791,273NCBI
Celera2226,260,520 - 26,273,049 (-)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2225,420,503 - 25,433,033 (-)NCBIHuRef
CHM1_12242,414,453 - 42,426,959 (-)NCBICHM1_1
Naga
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391582,213,733 - 82,223,076 (-)NCBIGRCm39mm39
GRCm39 Ensembl1582,213,733 - 82,223,126 (-)Ensembl
GRCm381582,329,532 - 82,338,884 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1582,329,532 - 82,338,925 (-)EnsemblGRCm38mm10GRCm38
MGSCv371582,159,962 - 82,169,256 (-)NCBIGRCm37mm9NCBIm37
MGSCv361582,157,307 - 82,166,570 (-)NCBImm8
Celera1584,453,684 - 84,462,981 (-)NCBICelera
Cytogenetic Map15E1NCBI
cM Map1538.56NCBI
Naga
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27113,846,358 - 113,855,430 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl7113,846,374 - 113,855,315 (-)Ensembl
Rnor_6.07123,563,047 - 123,572,074 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7123,563,059 - 123,572,082 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07123,547,766 - 123,556,889 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47120,706,129 - 120,714,429 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17120,740,375 - 120,748,659 (-)NCBI
Celera7110,161,450 - 110,169,578 (-)NCBICelera
Cytogenetic Map7q34NCBI
Naga
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541327,461,998 - 27,472,273 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541327,463,931 - 27,472,273 (-)NCBIChiLan1.0ChiLan1.0
NAGA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12241,035,622 - 41,046,431 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2241,035,622 - 41,046,431 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02222,951,723 - 22,964,278 (-)NCBIMhudiblu_PPA_v0panPan3
NAGA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11023,303,950 - 23,312,409 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1023,304,354 - 23,396,068 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1023,236,291 - 23,248,260 (+)NCBI
ROS_Cfam_1.01024,046,730 - 24,058,681 (+)NCBI
UMICH_Zoey_3.11023,764,333 - 23,776,295 (+)NCBI
UNSW_CanFamBas_1.01024,085,173 - 24,097,124 (+)NCBI
UU_Cfam_GSD_1.01024,259,163 - 24,271,114 (+)NCBI
Naga
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049456,924,320 - 6,938,883 (+)NCBI
SpeTri2.0NW_00493671831,946 - 55,822 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NAGA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl56,571,037 - 6,590,546 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.156,580,141 - 6,587,550 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.253,969,705 - 3,986,467 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NAGA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11924,589,133 - 24,607,753 (-)NCBI
ChlSab1.1 Ensembl1924,592,409 - 24,607,682 (-)Ensembl
Vero_WHO_p1.0NW_023666045100,787,749 - 100,800,152 (+)NCBI
Naga
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247526,682,272 - 6,689,491 (+)NCBI

Position Markers
RH27832  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,457,111 - 42,457,420UniSTSGRCh37
Build 362240,787,057 - 40,787,366RGDNCBI36
Celera2226,263,292 - 26,263,601RGD
Cytogenetic Map22q11UniSTS
HuRef2225,423,275 - 25,423,584UniSTS
GDB:270295  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,467,513 - 42,467,606UniSTSGRCh37
Build 362240,797,459 - 40,797,552RGDNCBI36
Celera2226,273,716 - 26,273,809RGD
Cytogenetic Map22q11UniSTS
HuRef2225,433,700 - 25,433,793UniSTS
D22S1240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,454,462 - 42,454,610UniSTSGRCh37
Build 362240,784,408 - 40,784,556RGDNCBI36
Celera2226,260,644 - 26,260,791RGD
Cytogenetic Map22q11UniSTS
HuRef2225,420,627 - 25,420,774UniSTS
GeneMap99-G3 RH Map221353.0UniSTS
RH17702  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,454,596 - 42,454,772UniSTSGRCh37
Build 362240,784,542 - 40,784,718RGDNCBI36
Celera2226,260,777 - 26,260,953RGD
Cytogenetic Map22q11UniSTS
HuRef2225,420,760 - 25,420,936UniSTS
GeneMap99-GB4 RH Map22136.44UniSTS
D22S1029  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,457,114 - 42,457,384UniSTSGRCh37
Build 362240,787,060 - 40,787,330RGDNCBI36
Celera2226,263,295 - 26,263,565RGD
Cytogenetic Map22q11UniSTS
HuRef2225,423,278 - 25,423,548UniSTS
GeneMap99-G3 RH Map221353.0UniSTS
WI-7665  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,455,228 - 42,455,563UniSTSGRCh37
Build 362240,785,174 - 40,785,509RGDNCBI36
Celera2226,261,409 - 26,261,744RGD
Cytogenetic Map22q11UniSTS
HuRef2225,421,392 - 25,421,727UniSTS
GeneMap99-GB4 RH Map22136.87UniSTS
Whitehead-RH Map22156.8UniSTS
NAGA__6207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,455,625 - 42,456,377UniSTSGRCh37
Build 362240,785,571 - 40,786,323RGDNCBI36
Celera2226,261,806 - 26,262,558RGD
HuRef2225,421,789 - 25,422,541UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
D22S1041  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,456,081 - 42,456,953UniSTSGRCh37
Celera2226,262,262 - 26,263,134UniSTS
Cytogenetic Map22q11UniSTS
HuRef2225,422,245 - 25,423,117UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1618
Count of miRNA genes:681
Interacting mature miRNAs:756
Transcripts:ENST00000396398, ENST00000402937, ENST00000403363
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2349 2202 1567 524 1786 368 3404 989 1372 371 1448 1592 169 1178 1921 6
Low 90 789 159 100 165 97 953 1208 2362 48 12 21 5 1 26 867 2
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000396398   ⟹   ENSP00000379680
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2242,058,334 - 42,070,812 (-)Ensembl
RefSeq Acc Id: ENST00000402937   ⟹   ENSP00000384603
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2242,059,802 - 42,070,842 (-)Ensembl
RefSeq Acc Id: ENST00000403363   ⟹   ENSP00000385283
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2242,059,796 - 42,070,830 (-)Ensembl
RefSeq Acc Id: NM_000262   ⟹   NP_000253
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382242,058,334 - 42,070,812 (-)NCBI
GRCh372242,454,338 - 42,466,852 (-)NCBI
Build 362240,784,331 - 40,796,719 (-)NCBI Archive
HuRef2225,420,503 - 25,433,033 (-)ENTREZGENE
CHM1_12242,414,453 - 42,426,959 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001362848   ⟹   NP_001349777
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382242,058,334 - 42,070,842 (-)NCBI
RefSeq Acc Id: NM_001362850   ⟹   NP_001349779
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382242,058,334 - 42,070,842 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_000253   ⟸   NM_000262
- Peptide Label: precursor
- UniProtKB: P17050 (UniProtKB/Swiss-Prot),   A0A024R1Q5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001349779   ⟸   NM_001362850
- Peptide Label: precursor
RefSeq Acc Id: NP_001349777   ⟸   NM_001362848
- Peptide Label: precursor
RefSeq Acc Id: ENSP00000384603   ⟸   ENST00000402937
RefSeq Acc Id: ENSP00000385283   ⟸   ENST00000403363
RefSeq Acc Id: ENSP00000379680   ⟸   ENST00000396398
Protein Domains
Melibiase_2_C

Promoters
RGD ID:6800170
Promoter ID:HG_KWN:43043
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000330013,   OTTHUMT00000330014
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,793,646 - 40,794,146 (-)MPROMDB
RGD ID:6800172
Promoter ID:HG_KWN:43044
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000262,   UC003BBX.1,   UC003BBY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,796,676 - 40,797,176 (-)MPROMDB
RGD ID:13604302
Promoter ID:EPDNEW_H28335
Type:initiation region
Name:NAGA_1
Description:alpha-N-acetylgalactosaminidase
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
GRCh382242,070,790 - 42,070,850EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency [RCV000501877]|Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000019792]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000660647]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001148412]|not provided [RCV000256069]|not specified [RCV001195394] Chr22:42061052 [GRCh38]
Chr22:42457056 [GRCh37]
Chr22:22q13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000262.3(NAGA):c.985C>T (p.Arg329Trp) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000019793] Chr22:42061040 [GRCh38]
Chr22:42457044 [GRCh37]
Chr22:22q13.2
pathogenic
NM_000262.3(NAGA):c.577G>T (p.Glu193Ter) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000019794] Chr22:42066730 [GRCh38]
Chr22:42462734 [GRCh37]
Chr22:22q13.2
pathogenic
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000169668]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001145759]|Schindler disease, type 3 [RCV000019795]|not provided [RCV001092858] Chr22:42067136 [GRCh38]
Chr22:42463140 [GRCh37]
Chr22:22q13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000262.3(NAGA):c.986G>A (p.Arg329Gln) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000019796]|NAGA-Related Disorders [RCV000778663] Chr22:42061039 [GRCh38]
Chr22:42457043 [GRCh37]
Chr22:22q13.2
pathogenic|uncertain significance
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
NM_000262.3(NAGA):c.279G>A (p.Pro93=) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000282713]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000322543]|not provided [RCV000675778]|not specified [RCV000177025] Chr22:42067810 [GRCh38]
Chr22:42463814 [GRCh37]
Chr22:22q13.2
benign
NM_000262.3(NAGA):c.598-15C>T single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000311665]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000368866]|not provided [RCV000675777]|not specified [RCV000179279] Chr22:42065914 [GRCh38]
Chr22:42461918 [GRCh37]
Chr22:22q13.2
benign
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33
pathogenic
GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1 copy number loss See cases [RCV000136528] Chr22:41645339..42565798 [GRCh38]
Chr22:42041343..42961804 [GRCh37]
Chr22:40371289..41291748 [NCBI36]
Chr22:22q13.2
uncertain significance
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3 copy number gain See cases [RCV000136785] Chr22:41277822..42414957 [GRCh38]
Chr22:41673826..42810963 [GRCh37]
Chr22:40003772..41140907 [NCBI36]
Chr22:22q13.2
pathogenic
NM_000262.3(NAGA):c.358G>A (p.Ala120Thr) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001303593]|not provided [RCV001508024]|not specified [RCV000202843] Chr22:42067257 [GRCh38]
Chr22:42463261 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.1132A>G (p.Ser378Gly) single nucleotide variant not specified [RCV000203149] Chr22:42060383 [GRCh38]
Chr22:42456387 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.606C>A (p.Tyr202Ter) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000192506] Chr22:42065891 [GRCh38]
Chr22:42461895 [GRCh37]
Chr22:22q13.2
likely pathogenic
NM_000262.3(NAGA):c.418C>T (p.Gln140Ter) single nucleotide variant not provided [RCV001508023] Chr22:42067197 [GRCh38]
Chr22:42463201 [GRCh37]
Chr22:22q13.2
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:42207144-42776457)x1 copy number loss See cases [RCV000240146] Chr22:42207144..42776457 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
NM_000262.3(NAGA):c.*1299C>T single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000380526]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000269614] Chr22:42058980 [GRCh38]
Chr22:42454984 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.*155A>G single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000327782]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000270304] Chr22:42060124 [GRCh38]
Chr22:42456128 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.*143C>T single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000273896]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000384680] Chr22:42060136 [GRCh38]
Chr22:42456140 [GRCh37]
Chr22:22q13.2
benign|likely benign
NM_000262.3(NAGA):c.-43C>T single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000395272]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000312832] Chr22:42070340 [GRCh38]
Chr22:42466344 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.549C>T (p.Ile183=) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000276581]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000334085] Chr22:42066758 [GRCh38]
Chr22:42462762 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.*1788_*1789del deletion Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000399400]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000314331] Chr22:42058490..42058491 [GRCh38]
Chr22:42454494..42454495 [GRCh37]
Chr22:22q13.2
benign
NM_000262.3(NAGA):c.638G>A (p.Arg213His) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000398285]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000365198] Chr22:42065859 [GRCh38]
Chr22:42461863 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000319000]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000375961]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000764402]|not provided [RCV000520922] Chr22:42067809 [GRCh38]
Chr22:42463813 [GRCh37]
Chr22:22q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000262.3(NAGA):c.-208G>C single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000369898]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000399431]|not provided [RCV000842782] Chr22:42070505 [GRCh38]
Chr22:42466509 [GRCh37]
Chr22:22q13.2
benign
NM_000262.3(NAGA):c.993G>T (p.Leu331=) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000372997]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000280790] Chr22:42061032 [GRCh38]
Chr22:42457036 [GRCh37]
Chr22:22q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000262.3(NAGA):c.-496G>C single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000262438]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000319772] Chr22:42070793 [GRCh38]
Chr22:42466797 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.760-7C>A single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000308283]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000396104] Chr22:42063031 [GRCh38]
Chr22:42459035 [GRCh37]
Chr22:22q13.2
benign|likely benign
NM_000262.3(NAGA):c.859C>T (p.Arg287Cys) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000343240]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000285917] Chr22:42062925 [GRCh38]
Chr22:42458929 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.110G>A (p.Arg37His) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000287258]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000379429]|not provided [RCV000733060] Chr22:42068481 [GRCh38]
Chr22:42464485 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.*12A>C single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000331287]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000388080]|not provided [RCV000675775] Chr22:42060267 [GRCh38]
Chr22:42456271 [GRCh37]
Chr22:22q13.2
benign|likely benign
NM_000262.3(NAGA):c.*1929C>T single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000382486]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000288226] Chr22:42058350 [GRCh38]
Chr22:42454354 [GRCh37]
Chr22:22q13.2
benign
NM_000262.3(NAGA):c.957+4C>G single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000338134]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000396099]|not provided [RCV000675776] Chr22:42062823 [GRCh38]
Chr22:42458827 [GRCh37]
Chr22:22q13.2
benign|likely benign
NM_000262.3(NAGA):c.*1789del deletion Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000349138]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000313100] Chr22:42058490 [GRCh38]
Chr22:42454494 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.1013T>C (p.Leu338Ser) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000315970]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000296129] Chr22:42061012 [GRCh38]
Chr22:42457016 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.*1035G>A single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000387189]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000295309] Chr22:42059244 [GRCh38]
Chr22:42455248 [GRCh37]
Chr22:22q13.2
benign|likely benign
NM_000262.3(NAGA):c.-502A>C single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000358272]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000266631] Chr22:42070799 [GRCh38]
Chr22:42466803 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.*1696C>T single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000260311]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000355090] Chr22:42058583 [GRCh38]
Chr22:42454587 [GRCh37]
Chr22:22q13.2
benign|uncertain significance
NM_000262.3(NAGA):c.406G>A (p.Asp136Asn) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000261413]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000353858]|not specified [RCV001199905] Chr22:42067209 [GRCh38]
Chr22:42463213 [GRCh37]
Chr22:22q13.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000262.3(NAGA):c.25C>T (p.Leu9=) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000406276]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000344634] Chr22:42068566 [GRCh38]
Chr22:42464570 [GRCh37]
Chr22:22q13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000262.3(NAGA):c.*555C>T single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000337393]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000298846] Chr22:42059724 [GRCh38]
Chr22:42455728 [GRCh37]
Chr22:22q13.2
likely benign|uncertain significance
NM_000262.3(NAGA):c.*1501C>G single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000301495]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000358679] Chr22:42058778 [GRCh38]
Chr22:42454782 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.*1814C>T single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000395216]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000347831] Chr22:42058465 [GRCh38]
Chr22:42454469 [GRCh37]
Chr22:22q13.2
benign|likely benign
NM_000262.3(NAGA):c.*1333T>C single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000266251]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000323621] Chr22:42058946 [GRCh38]
Chr22:42454950 [GRCh37]
Chr22:22q13.2
benign
NM_000262.3(NAGA):c.*176C>G single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000359073]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000266713] Chr22:42060103 [GRCh38]
Chr22:42456107 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.*161T>C single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000362608]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000305453] Chr22:42060118 [GRCh38]
Chr22:42456122 [GRCh37]
Chr22:22q13.2
benign|likely benign
NM_000262.3(NAGA):c.1101+144C>G single nucleotide variant not provided [RCV001574775] Chr22:42060780 [GRCh38]
Chr22:42456784 [GRCh37]
Chr22:22q13.2
likely benign
NM_000262.3(NAGA):c.*1090G>A single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000291933]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000349008] Chr22:42059189 [GRCh38]
Chr22:42455193 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.*926C>G single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000352562]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000397719] Chr22:42059353 [GRCh38]
Chr22:42455357 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.-306C>A single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000354883]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000297426] Chr22:42070603 [GRCh38]
Chr22:42466607 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.*1252T>C single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000383874]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000327051] Chr22:42059027 [GRCh38]
Chr22:42455031 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.19C>T (p.Leu7Phe) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000290697]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000348095] Chr22:42068572 [GRCh38]
Chr22:42464576 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.*268G>A single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000301899]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV000397688] Chr22:42060011 [GRCh38]
Chr22:42456015 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.502+8A>T single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001459999]|not provided [RCV000639969] Chr22:42067105 [GRCh38]
Chr22:42463109 [GRCh37]
Chr22:22q13.2
likely benign
NM_000262.3(NAGA):c.983T>C (p.Met328Thr) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001305248]|not provided [RCV000732043] Chr22:42061042 [GRCh38]
Chr22:42457046 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:42458857-42474106)x3 copy number gain See cases [RCV000448223] Chr22:42458857..42474106 [GRCh37]
Chr22:22q13.2
likely benign
NM_000262.3(NAGA):c.103C>T (p.Arg35Cys) single nucleotide variant not provided [RCV000493540] Chr22:42068488 [GRCh38]
Chr22:42464492 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2(chr22:41835094-42756616)x3 copy number gain See cases [RCV000511241] Chr22:41835094..42756616 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 copy number loss See cases [RCV000510765] Chr22:42441918..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NC_000022.11:g.(?_41301335)_(42070317_?)del deletion Common variable immunodeficiency 4 [RCV000648330] Chr22:41301335..42070317 [GRCh38]
Chr22:41697339..42466321 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2(chr22:41849322-42756616)x3 copy number gain not provided [RCV000684486] Chr22:41849322..42756616 [GRCh37]
Chr22:22q13.2
likely pathogenic
NM_000262.3(NAGA):c.1225T>A (p.Ser409Thr) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000699519] Chr22:42060290 [GRCh38]
Chr22:42456294 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.324+1G>A single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000686081] Chr22:42067764 [GRCh38]
Chr22:42463768 [GRCh37]
Chr22:22q13.2
likely pathogenic
NM_000262.3(NAGA):c.1142G>A (p.Arg381Gln) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000686388] Chr22:42060373 [GRCh38]
Chr22:42456377 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
NM_000262.3(NAGA):c.*1862C>A single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001148198]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001149753] Chr22:42058417 [GRCh38]
Chr22:42454421 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.876G>A (p.Gln292=) single nucleotide variant not provided [RCV000943339] Chr22:42062908 [GRCh38]
Chr22:42458912 [GRCh37]
Chr22:22q13.2
likely benign
NM_000262.3(NAGA):c.837C>A (p.Pro279=) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000902620] Chr22:42062947 [GRCh38]
Chr22:42458951 [GRCh37]
Chr22:22q13.2
likely benign
NM_000262.3(NAGA):c.618G>A (p.Ala206=) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001149986]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001149985]|not provided [RCV000914754] Chr22:42065879 [GRCh38]
Chr22:42461883 [GRCh37]
Chr22:22q13.2
likely benign|uncertain significance
NM_000262.3(NAGA):c.330C>T (p.His110=) single nucleotide variant not provided [RCV000928979] Chr22:42067285 [GRCh38]
Chr22:42463289 [GRCh37]
Chr22:22q13.2
likely benign
NM_000262.3(NAGA):c.833C>T (p.Ala278Val) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001042195] Chr22:42062951 [GRCh38]
Chr22:42458955 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) copy number loss 22q13.3 deletion syndrome [RCV000767745] Chr22:42416026..51181759 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_000262.3(NAGA):c.1235G>C (p.Ter412Ser) single nucleotide variant NAGA-Related Disorders [RCV000779375] Chr22:42060280 [GRCh38]
Chr22:42456284 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.903C>T (p.Leu301=) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000898381] Chr22:42062881 [GRCh38]
Chr22:42458885 [GRCh37]
Chr22:22q13.2
likely benign
NM_000262.3(NAGA):c.360G>A (p.Ala120=) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000898847] Chr22:42067255 [GRCh38]
Chr22:42463259 [GRCh37]
Chr22:22q13.2
likely benign
NM_000262.3(NAGA):c.1209C>T (p.Ile403=) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001145649]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001145650]|not provided [RCV000892789] Chr22:42060306 [GRCh38]
Chr22:42456310 [GRCh37]
Chr22:22q13.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000262.3(NAGA):c.482C>T (p.Thr161Ile) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000963407]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001145758]|not provided [RCV001508021] Chr22:42067133 [GRCh38]
Chr22:42463137 [GRCh37]
Chr22:22q13.2
likely benign|uncertain significance
NM_000262.3(NAGA):c.787T>A (p.Leu263Ile) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000899748] Chr22:42062997 [GRCh38]
Chr22:42459001 [GRCh37]
Chr22:22q13.2
likely benign
NM_000262.3(NAGA):c.957+7G>A single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000895537] Chr22:42062820 [GRCh38]
Chr22:42458824 [GRCh37]
Chr22:22q13.2
likely benign
NM_000262.3(NAGA):c.917A>T (p.Asn306Ile) single nucleotide variant Fetal akinesia sequence [RCV000855515] Chr22:42062867 [GRCh38]
Chr22:42458871 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.487G>A (p.Glu163Lys) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000817487]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001535647] Chr22:42067128 [GRCh38]
Chr22:42463132 [GRCh37]
Chr22:22q13.2
uncertain significance|not provided
NM_000262.3(NAGA):c.16G>A (p.Val6Met) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000797523] Chr22:42070282 [GRCh38]
Chr22:42466286 [GRCh37]
Chr22:22q13.2
uncertain significance
NC_000022.11:g.42070946C>T single nucleotide variant not provided [RCV000842781] Chr22:42070946 [GRCh38]
Chr22:42466950 [GRCh37]
Chr22:22q13.2
benign
NM_000262.3(NAGA):c.324+80A>G single nucleotide variant not provided [RCV000842783] Chr22:42067685 [GRCh38]
Chr22:42463689 [GRCh37]
Chr22:22q13.2
benign
NM_000262.3(NAGA):c.325-72G>A single nucleotide variant not provided [RCV000842784] Chr22:42067362 [GRCh38]
Chr22:42463366 [GRCh37]
Chr22:22q13.2
benign
NC_000022.11:g.42062823G>C single nucleotide variant not provided [RCV000842785] Chr22:42458827 [GRCh37]
Chr22:22q13.2
benign
NM_000262.3(NAGA):c.1097_1098del (p.Ile365_Tyr366insTer) microsatellite not specified [RCV000825989] Chr22:42060927..42060928 [GRCh38]
Chr22:42456931..42456932 [GRCh37]
Chr22:22q13.2
uncertain significance
NC_000022.11:g.42070976A>T single nucleotide variant not provided [RCV000842780] Chr22:42070976 [GRCh38]
Chr22:42466980 [GRCh37]
Chr22:22q13.2
benign
NM_000262.3(NAGA):c.*730T>C single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001148303]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001148302] Chr22:42059549 [GRCh38]
Chr22:42455553 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.*1103T>C single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001147378]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001147377] Chr22:42059176 [GRCh38]
Chr22:42455180 [GRCh37]
Chr22:22q13.2
benign
NM_000262.3(NAGA):c.406G>C (p.Asp136His) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV000814746] Chr22:42067209 [GRCh38]
Chr22:42463213 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.132G>A (p.Glu44=) single nucleotide variant not provided [RCV000982164] Chr22:42068459 [GRCh38]
Chr22:42464463 [GRCh37]
Chr22:22q13.2
likely benign
NC_000022.11:g.42070901C>T single nucleotide variant not provided [RCV000844502] Chr22:42070901 [GRCh38]
Chr22:42466905 [GRCh37]
Chr22:22q13.2
benign
NM_000262.3(NAGA):c.*572G>A single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001148304]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001149864] Chr22:42059707 [GRCh38]
Chr22:42455711 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.*55C>T single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001145647]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001145648] Chr22:42060224 [GRCh38]
Chr22:42456228 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.59A>G (p.Asn20Ser) single nucleotide variant not specified [RCV001169949] Chr22:42068532 [GRCh38]
Chr22:42464536 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.502+9C>T single nucleotide variant not provided [RCV000917440] Chr22:42067104 [GRCh38]
Chr22:42463108 [GRCh37]
Chr22:22q13.2
likely benign
NM_000262.3(NAGA):c.598-10C>T single nucleotide variant not provided [RCV000906901] Chr22:42065909 [GRCh38]
Chr22:42461913 [GRCh37]
Chr22:22q13.2
likely benign
NM_000262.3(NAGA):c.324C>T (p.Tyr108=) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001145761]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001145760] Chr22:42067765 [GRCh38]
Chr22:42463769 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.*1311T>C single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001145435]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001147376] Chr22:42058968 [GRCh38]
Chr22:42454972 [GRCh37]
Chr22:22q13.2
likely benign
NM_000262.3(NAGA):c.*107G>A single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001145646]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001145534] Chr22:42060172 [GRCh38]
Chr22:42456176 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.582C>T (p.Gly194=) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001143860]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001143861] Chr22:42066725 [GRCh38]
Chr22:42462729 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.-394A>G single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001144182]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001144183] Chr22:42070691 [GRCh38]
Chr22:42466695 [GRCh37]
Chr22:22q13.2
likely benign
NM_000262.3(NAGA):c.1146T>C (p.Asp382=) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001502304]|not provided [RCV000890605] Chr22:42060369 [GRCh38]
Chr22:42456373 [GRCh37]
Chr22:22q13.2
likely benign
NM_000262.3(NAGA):c.*1724C>G single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001149755]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001149754] Chr22:42058555 [GRCh38]
Chr22:42454559 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.12G>A (p.Lys4=) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001150315]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001150314] Chr22:42070286 [GRCh38]
Chr22:42466290 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.*1484A>G single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001145433]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001145434] Chr22:42058795 [GRCh38]
Chr22:42454799 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.*170G>A single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001145533]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001149865] Chr22:42060109 [GRCh38]
Chr22:42456113 [GRCh37]
Chr22:22q13.2
benign
NM_000262.3(NAGA):c.759+1_759+8del deletion Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001199313] Chr22:42065730..42065737 [GRCh38]
Chr22:42461734..42461741 [GRCh37]
Chr22:22q13.2
likely pathogenic
NM_000262.3(NAGA):c.697G>A (p.Val233Met) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001149984]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001149983] Chr22:42065800 [GRCh38]
Chr22:42461804 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.443G>A (p.Trp148Ter) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001218206] Chr22:42067172 [GRCh38]
Chr22:42463176 [GRCh37]
Chr22:22q13.2
pathogenic
NM_000262.3(NAGA):c.486C>G (p.Pro162=) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001143864]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001143865] Chr22:42067129 [GRCh38]
Chr22:42463133 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.*1555C>T single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001149756]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001145432] Chr22:42058724 [GRCh38]
Chr22:42454728 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.*1930G>A single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001148196]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001148197] Chr22:42058349 [GRCh38]
Chr22:42454353 [GRCh37]
Chr22:22q13.2
likely benign
NM_000262.3(NAGA):c.493C>T (p.Arg165Trp) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001143863]|Alpha-N-acetylgalactosaminidase deficiency type 2 [RCV001143862]|not provided [RCV001508020] Chr22:42067122 [GRCh38]
Chr22:42463126 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
Single allele deletion Intellectual disability [RCV001293376] Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
Single allele deletion Intellectual disability [RCV001293368] Chr22:42356886..43684002 [GRCh37]
Chr22:22q13.2
pathogenic
NC_000022.10:g.(?_41697339)_(42466321_?)del deletion Common variable immunodeficiency 4 [RCV001305750] Chr22:41697339..42466321 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.104G>A (p.Arg35His) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001297201] Chr22:42068487 [GRCh38]
Chr22:42464491 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.598-9G>A single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001434081] Chr22:42065908 [GRCh38]
Chr22:42461912 [GRCh37]
Chr22:22q13.2
likely benign
Single allele deletion Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV001391668] Chr22:42440000..43780000 [GRCh37]
Chr22:22q13.2
pathogenic
NM_000262.3(NAGA):c.230T>C (p.Ile77Thr) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001347328] Chr22:42067859 [GRCh38]
Chr22:42463863 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.1224_1225insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCTGGAGATG (p.Ser409fs) insertion Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001315757] Chr22:42060290..42060291 [GRCh38]
Chr22:42456294..42456295 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_000262.3(NAGA):c.838C>A (p.Leu280Ile) single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001512584] Chr22:42062946 [GRCh38]
Chr22:42458950 [GRCh37]
Chr22:22q13.2
benign
NM_000262.3(NAGA):c.759+10T>G single nucleotide variant Alpha-N-acetylgalactosaminidase deficiency type 1 [RCV001505559] Chr22:42065728 [GRCh38]
Chr22:42461732 [GRCh37]
Chr22:22q13.2
likely benign
NM_000262.3(NAGA):c.419A>G (p.Gln140Arg) single nucleotide variant not provided [RCV001508022] Chr22:42067196 [GRCh38]
Chr22:42463200 [GRCh37]
Chr22:22q13.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7631 AgrOrtholog
COSMIC NAGA COSMIC
Ensembl Genes ENSG00000198951 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000379680 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000384603 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000385283 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000396398 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000402937 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000403363 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.1180 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.20.20.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198951 GTEx
HGNC ID HGNC:7631 ENTREZGENE
Human Proteome Map NAGA Human Proteome Map
InterPro Aldolase_TIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hydro_27 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hydro_27/36_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hydro_b UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glycoside_hydrolase_SF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Melibiase/NAGA_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4668 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4668 ENTREZGENE
OMIM 104170 OMIM
  609241 OMIM
  609242 OMIM
PANTHER PTHR11452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Melibiase_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Melibiase_2_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31435 PharmGKB
PRINTS GLHYDRLASE27 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ALPHA_GALACTOSIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51445 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R1Q5 ENTREZGENE, UniProtKB/TrEMBL
  A0A248RGB1_HUMAN UniProtKB/TrEMBL
  NAGAB_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-17 NAGA  alpha-N-acetylgalactosaminidase    N-acetylgalactosaminidase, alpha-  Symbol and/or name change 5135510 APPROVED