ASPA (aspartoacylase) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: ASPA (aspartoacylase) Homo sapiens
Analyze
Symbol: ASPA
Name: aspartoacylase
RGD ID: 1350952
HGNC Page HGNC
Description: Exhibits identical protein binding activity. Predicted to be involved in aspartate catabolic process and cellular amino acid biosynthetic process. Localizes to cytosol. Implicated in Canavan disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ACY-2; ACY2; aminoacylase 2; aminoacylase-2; ASP; aspartoacylase (aminoacylase 2, canavan disease); aspartoacylase (Canavan disease); Canavan disease
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 Ensembl173,472,374 - 3,503,405 (+)EnsemblGRCh38hg38GRCh38
GRCh38173,473,646 - 3,503,405 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37173,377,404 - 3,406,699 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36173,326,046 - 3,349,450 (+)NCBINCBI36hg18NCBI36
Build 34173,326,045 - 3,349,449NCBI
Celera173,391,129 - 3,416,414 (+)NCBI
Cytogenetic Map17p13.2NCBI
HuRef173,269,346 - 3,294,508 (+)NCBIHuRef
CHM1_1173,387,823 - 3,413,122 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Cellular Component
cytoplasm  (ISO)
cytosol  (IBA,IDA,TAS)
nucleus  (IEA,ISO)

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

Human Phenotype
Abnormal basal ganglia MRI signal intensity  (IAGP)
Abnormal enzyme/coenzyme activity  (IAGP)
Absent speech  (IAGP)
Aplasia/Hypoplasia involving the central nervous system  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Blindness  (IAGP)
Brain atrophy  (IAGP)
Cerebral white matter atrophy  (IAGP)
CNS demyelination  (IAGP)
Decerebrate rigidity  (IAGP)
Delayed closure of the anterior fontanelle  (IAGP)
Delayed speech and language development  (IAGP)
Developmental regression  (IAGP)
Elevated brain N-acetyl aspartate level by MRS  (IAGP)
Elevated urinary N-acetylaspartic acid level  (IAGP)
Functional motor deficit  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized-onset seizure  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hyperreflexia  (IAGP)
Hypotonia  (IAGP)
Inability to walk  (IAGP)
Increased circulating N-Acetylaspartic acid concentration  (IAGP)
Increased CSF N-Acetylaspartic acid concentration  (IAGP)
Intellectual disability  (IAGP)
Irritability  (IAGP)
Joint stiffness  (IAGP)
Lethargy  (IAGP)
Macrocephaly  (IAGP)
Megalencephaly  (IAGP)
Mild global developmental delay  (IAGP)
Mild microcephaly  (IAGP)
Motor delay  (IAGP)
Nasogastric tube feeding  (IAGP)
Nystagmus  (IAGP)
Opisthotonus  (IAGP)
Optic atrophy  (IAGP)
Oral-pharyngeal dysphagia  (IAGP)
Poor head control  (IAGP)
Poor speech  (IAGP)
Poor suck  (IAGP)
Pseudobulbar signs  (IAGP)
Rod-cone dystrophy  (IAGP)
Seizure  (IAGP)
Sleep disturbance  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Visual fixation instability  (IAGP)
Vomiting  (IAGP)
Weak cry  (IAGP)
References

Additional References at PubMed
PMID:27051   PMID:3116332   PMID:7599639   PMID:7668285   PMID:8023850   PMID:8088831   PMID:8659549   PMID:9407392   PMID:10564886   PMID:10837925   PMID:10909858   PMID:12205125  
PMID:12477932   PMID:12638939   PMID:12706335   PMID:14699612   PMID:15489334   PMID:16189514   PMID:16437572   PMID:16669630   PMID:16935940   PMID:17027983   PMID:17194761   PMID:17391648  
PMID:18029348   PMID:18264947   PMID:18293939   PMID:20201926   PMID:20301412   PMID:21873635   PMID:22019069   PMID:22219087   PMID:22284616   PMID:22468686   PMID:22750302   PMID:22878930  
PMID:23049088   PMID:23376485   PMID:24036223   PMID:24501781   PMID:24632142   PMID:25003821   PMID:25416956   PMID:25910212   PMID:28514442   PMID:29791485   PMID:30431265   PMID:30834272  
PMID:32296183   PMID:32814053  


Genomics

Comparative Map Data
ASPA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl173,472,374 - 3,503,405 (+)EnsemblGRCh38hg38GRCh38
GRCh38173,473,646 - 3,503,405 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37173,377,404 - 3,406,699 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36173,326,046 - 3,349,450 (+)NCBINCBI36hg18NCBI36
Build 34173,326,045 - 3,349,449NCBI
Celera173,391,129 - 3,416,414 (+)NCBI
Cytogenetic Map17p13.2NCBI
HuRef173,269,346 - 3,294,508 (+)NCBIHuRef
CHM1_1173,387,823 - 3,413,122 (+)NCBICHM1_1
Aspa
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391173,195,813 - 73,217,687 (-)NCBIGRCm39mm39
GRCm39 Ensembl1173,195,818 - 73,220,422 (-)Ensembl
GRCm381173,304,987 - 73,326,876 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1173,304,992 - 73,329,596 (-)EnsemblGRCm38mm10GRCm38
MGSCv371173,118,490 - 73,138,136 (-)NCBIGRCm37mm9NCBIm37
MGSCv361173,121,183 - 73,140,829 (-)NCBImm8
Celera1180,842,205 - 80,861,574 (-)NCBICelera
Cytogenetic Map11B4NCBI
Aspa
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21057,891,704 - 57,945,267 (-)NCBI
Rnor_6.0 Ensembl1059,839,852 - 59,892,960 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01059,839,693 - 59,888,244 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01059,578,788 - 59,627,450 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41060,178,509 - 60,199,207 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11060,192,134 - 60,212,830 (-)NCBI
Celera1057,043,025 - 57,063,351 (-)NCBICelera
Cytogenetic Map10q24NCBI
Aspa
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546713,280,254 - 13,316,114 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546713,277,014 - 13,332,658 (-)NCBIChiLan1.0ChiLan1.0
ASPA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1173,522,858 - 3,546,279 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl173,522,858 - 3,546,279 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0173,492,304 - 3,517,882 (+)NCBIMhudiblu_PPA_v0panPan3
ASPA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1947,338,435 - 47,361,974 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl947,343,120 - 47,360,914 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha946,501,040 - 46,524,807 (+)NCBI
ROS_Cfam_1.0948,182,922 - 48,206,694 (+)NCBI
UMICH_Zoey_3.1946,955,395 - 46,979,255 (+)NCBI
UNSW_CanFamBas_1.0947,246,731 - 47,271,055 (+)NCBI
UU_Cfam_GSD_1.0947,304,197 - 47,328,169 (+)NCBI
Aspa
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560255,668,798 - 55,683,442 (-)NCBI
SpeTri2.0NW_004936677219,459 - 232,545 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ASPA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1249,610,519 - 49,641,905 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11249,612,845 - 49,630,303 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21251,466,516 - 51,490,259 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ASPA
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1162,980,325 - 3,005,632 (+)NCBI
ChlSab1.1 Ensembl162,982,459 - 3,009,885 (+)Ensembl
Vero_WHO_p1.0NW_02366605918,888,858 - 18,914,238 (-)NCBI
Aspa
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247866,168,785 - 6,202,223 (+)NCBI

Position Markers
D17S2054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,402,384 - 3,402,660UniSTSGRCh37
Build 36173,349,134 - 3,349,410RGDNCBI36
Celera173,416,098 - 3,416,374RGD
Cytogenetic Map17p13.3UniSTS
HuRef173,294,192 - 3,294,468UniSTS
STS-H83906  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,402,486 - 3,402,640UniSTSGRCh37
Build 36173,349,236 - 3,349,390RGDNCBI36
Celera173,416,200 - 3,416,354RGD
Cytogenetic Map17p13.3UniSTS
HuRef173,294,294 - 3,294,448UniSTS
GeneMap99-GB4 RH Map1737.24UniSTS
RH123093  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,378,652 - 3,378,946UniSTSGRCh37
Build 36173,325,402 - 3,325,696RGDNCBI36
Celera173,392,377 - 3,392,671RGD
Cytogenetic Map17p13.3UniSTS
HuRef173,270,594 - 3,270,888UniSTS
TNG Radiation Hybrid Map171951.0UniSTS
GDB:375371  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,402,231 - 3,402,414UniSTSGRCh37
Build 36173,348,981 - 3,349,164RGDNCBI36
Celera173,415,945 - 3,416,128RGD
Cytogenetic Map17p13.3UniSTS
HuRef173,294,039 - 3,294,222UniSTS
RH17906  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,402,278 - 3,402,498UniSTSGRCh37
Build 36173,349,028 - 3,349,248RGDNCBI36
Celera173,415,992 - 3,416,212RGD
Cytogenetic Map17p13.3UniSTS
HuRef173,294,086 - 3,294,306UniSTS
GeneMap99-GB4 RH Map1737.24UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1904
Count of miRNA genes:996
Interacting mature miRNAs:1188
Transcripts:ENST00000263080, ENST00000456349, ENST00000571278, ENST00000577034
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


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
High
Medium 400 40 43 18 83 18 801 206 1807 186 225 120 402 620
Low 1863 1735 1464 496 607 356 3181 1704 1740 159 1000 1196 142 802 2018 2
Below cutoff 148 1057 215 108 999 91 361 280 171 67 177 270 32 1 150 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000263080   ⟹   ENSP00000263080
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl173,475,997 - 3,503,405 (+)Ensembl
RefSeq Acc Id: ENST00000456349   ⟹   ENSP00000409976
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl173,474,053 - 3,499,088 (+)Ensembl
RefSeq Acc Id: ENST00000571278   ⟹   ENSP00000461358
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl173,476,024 - 3,489,251 (+)Ensembl
RefSeq Acc Id: ENST00000577034   ⟹   ENSP00000458324
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl173,472,374 - 3,476,395 (+)Ensembl
RefSeq Acc Id: NM_000049   ⟹   NP_000040
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,475,997 - 3,503,405 (+)NCBI
GRCh37173,377,404 - 3,402,700 (+)ENTREZGENE
Build 36173,326,046 - 3,349,450 (+)NCBI Archive
HuRef173,269,346 - 3,294,508 (+)ENTREZGENE
CHM1_1173,389,715 - 3,413,122 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001128085   ⟹   NP_001121557
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,474,110 - 3,499,406 (+)NCBI
GRCh37173,377,404 - 3,402,700 (+)NCBI
HuRef173,269,346 - 3,294,508 (+)ENTREZGENE
CHM1_1173,387,823 - 3,413,122 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024661   ⟹   XP_016880150
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,474,106 - 3,502,534 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450764   ⟹   XP_024306532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,473,646 - 3,502,534 (+)NCBI
Sequence:
RefSeq Acc Id: XR_934026
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,475,985 - 3,499,389 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001121557   ⟸   NM_001128085
- UniProtKB: P45381 (UniProtKB/Swiss-Prot),   Q6FH48 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000040   ⟸   NM_000049
- UniProtKB: P45381 (UniProtKB/Swiss-Prot),   Q6FH48 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016880150   ⟸   XM_017024661
- Peptide Label: isoform X1
- UniProtKB: P45381 (UniProtKB/Swiss-Prot),   Q6FH48 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024306532   ⟸   XM_024450764
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000461358   ⟸   ENST00000571278
RefSeq Acc Id: ENSP00000409976   ⟸   ENST00000456349
RefSeq Acc Id: ENSP00000458324   ⟸   ENST00000577034
RefSeq Acc Id: ENSP00000263080   ⟸   ENST00000263080

Promoters
RGD ID:7233343
Promoter ID:EPDNEW_H22417
Type:initiation region
Name:ASPA_1
Description:aspartoacylase
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
GRCh38173,476,006 - 3,476,066EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
Single allele deletion TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy [RCV000735209] Chr17:3394299..3632836 [GRCh37]
Chr17:17p13.2
likely pathogenic
ASPA, 4-BP DEL, 876AGAA deletion Spongy degeneration of central nervous system [RCV000002728] Chr17:17pter-p13 pathogenic
ASPA, 1-BP DEL, 32T deletion Spongy degeneration of central nervous system [RCV000002729] Chr17:17pter-p13 pathogenic
ASPA, EX4DEL deletion Spongy degeneration of central nervous system [RCV000002731] Chr17:17pter-p13 pathogenic
NM_001321336.1(SPATA22):c.-74+19000_-74+19009del deletion not provided [RCV000627455] Chr17:3494403..3494412 [GRCh38]
Chr17:3397697..3397706 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_000049.3(ASPA):c.604G>C (p.Ala202Pro) single nucleotide variant Spongy degeneration of central nervous system [RCV000577927] Chr17:3489312 [GRCh38]
Chr17:3392606 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) single nucleotide variant Canavan Disease, Familial Form [RCV000590467]|Spongy degeneration of central nervous system [RCV000002723]|not provided [RCV000420704] Chr17:3499000 [GRCh38]
Chr17:3402294 [GRCh37]
Chr17:17p13.2
pathogenic
NM_000049.3(ASPA):c.454T>C (p.Cys152Arg) single nucleotide variant Spongy degeneration of central nervous system [RCV000002724] Chr17:3483520 [GRCh38]
Chr17:3386814 [GRCh37]
Chr17:17p13.2
pathogenic
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu) single nucleotide variant Canavan Disease, Familial Form [RCV000588914]|Spongy degeneration of central nervous system [RCV000002725]|not provided [RCV000489986] Chr17:3499060 [GRCh38]
Chr17:3402354 [GRCh37]
Chr17:17p13.2
pathogenic
NM_000049.3(ASPA):c.654C>A (p.Cys218Ter) single nucleotide variant Canavan Disease, Familial Form [RCV001174807]|Spongy degeneration of central nervous system [RCV000002726] Chr17:3494369 [GRCh38]
Chr17:3397663 [GRCh37]
Chr17:17p13.2
pathogenic
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter) single nucleotide variant Canavan Disease, Familial Form [RCV000588866]|Spongy degeneration of central nervous system [RCV000002727]|not provided [RCV000627216] Chr17:3494408 [GRCh38]
Chr17:3397702 [GRCh37]
Chr17:17p13.2
pathogenic
NM_000049.3(ASPA):c.692A>G (p.Tyr231Cys) single nucleotide variant Spongy degeneration of central nervous system [RCV000002730] Chr17:3494407 [GRCh38]
Chr17:3397701 [GRCh37]
Chr17:17p13.2
pathogenic
NM_001321336.1(SPATA22):c.-73-6832T>C single nucleotide variant Spongy degeneration of central nervous system [RCV000002732] Chr17:3476230 [GRCh38]
Chr17:3379524 [GRCh37]
Chr17:17p13.2
pathogenic
NM_000049.3(ASPA):c.746A>T (p.Asp249Val) single nucleotide variant Spongy degeneration of central nervous system [RCV000002733] Chr17:3498892 [GRCh38]
Chr17:3402186 [GRCh37]
Chr17:17p13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000049.3(ASPA):c.212G>A (p.Arg71His) single nucleotide variant Canavan disease, mild [RCV000002734]|Spongy degeneration of central nervous system [RCV000363108]|not provided [RCV001093136] Chr17:3476371 [GRCh38]
Chr17:3379665 [GRCh37]
Chr17:17p13.2
pathogenic|likely pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3 copy number gain See cases [RCV000052456] Chr17:2357067..4328426 [GRCh38]
Chr17:2260361..4231721 [GRCh37]
Chr17:2207111..4178470 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1 copy number loss See cases [RCV000053384] Chr17:193307..5652222 [GRCh38]
Chr17:45835..5555542 [GRCh37]
Chr17:43098..5496266 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3036729-3684667)x3 copy number gain See cases [RCV000053972] Chr17:3036729..3684667 [GRCh38]
Chr17:2940023..3587961 [GRCh37]
Chr17:2886773..3534710 [NCBI36]
Chr17:17p13.3-13.2
uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:3208843-3839780)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053973]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053973]|See cases [RCV000053973] Chr17:3208843..3839780 [GRCh38]
Chr17:3112137..3743074 [GRCh37]
Chr17:3058887..3689823 [NCBI36]
Chr17:17p13.3-13.2
uncertain significance
NM_000049.3(ASPA):c.433-2A>G single nucleotide variant not provided [RCV000176967] Chr17:3483497 [GRCh38]
Chr17:3386791 [GRCh37]
Chr17:17p13.2
pathogenic
NM_000049.3(ASPA):c.693C>T (p.Tyr231=) single nucleotide variant Spongy degeneration of central nervous system [RCV000297817]|not specified [RCV000178705] Chr17:3494408 [GRCh38]
Chr17:3397702 [GRCh37]
Chr17:17p13.2
benign|likely benign
NM_000049.3(ASPA):c.831C>T (p.Thr277=) single nucleotide variant Spongy degeneration of central nervous system [RCV000538772]|not specified [RCV000179246] Chr17:3498977 [GRCh38]
Chr17:3402271 [GRCh37]
Chr17:17p13.2
benign
GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1 copy number loss See cases [RCV000133721] Chr17:2062380..5258340 [GRCh38]
Chr17:1965674..5161635 [GRCh37]
Chr17:1912424..5102359 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 copy number loss See cases [RCV000134135] Chr17:162088..6959050 [GRCh38]
Chr17:45835..6862369 [GRCh37]
Chr17:11879..6803093 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3155468-3543868)x1 copy number loss See cases [RCV000133921] Chr17:3155468..3543868 [GRCh38]
Chr17:3058762..3447162 [GRCh37]
Chr17:3005512..3393912 [NCBI36]
Chr17:17p13.3-13.2
benign
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1 copy number loss See cases [RCV000135857] Chr17:226472..3655099 [GRCh38]
Chr17:396627..3558393 [GRCh37]
Chr17:76263..3505142 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3 copy number gain See cases [RCV000137603] Chr17:1348488..3513273 [GRCh38]
Chr17:1251782..3416567 [GRCh37]
Chr17:1198532..3363317 [NCBI36]
Chr17:17p13.3-13.2
likely pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3102273-3667053)x3 copy number gain See cases [RCV000137331] Chr17:3102273..3667053 [GRCh38]
Chr17:3005567..3570347 [GRCh37]
Chr17:2952317..3517096 [NCBI36]
Chr17:17p13.3-13.2
likely pathogenic|uncertain significance
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.2(chr17:3494418-3727880)x1 copy number loss See cases [RCV000139722] Chr17:3494418..3727880 [GRCh38]
Chr17:3397712..3631174 [GRCh37]
Chr17:3344462..3577923 [NCBI36]
Chr17:17p13.2
uncertain significance|conflicting data from submitters
GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3 copy number gain See cases [RCV000139738] Chr17:2062429..4141883 [GRCh38]
Chr17:1965723..4045177 [GRCh37]
Chr17:1912473..3991926 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1 copy number loss See cases [RCV000141658] Chr17:150732..5935377 [GRCh38]
Chr17:525..5838697 [GRCh37]
Chr17:525..5779421 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1 copy number loss See cases [RCV000141559] Chr17:237248..4735533 [GRCh38]
Chr17:396627..4638828 [GRCh37]
Chr17:87039..4585577 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1 copy number loss See cases [RCV000142440] Chr17:198748..4265640 [GRCh38]
Chr17:50690..4168935 [GRCh37]
Chr17:48539..4115684 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3168370-3862518)x3 copy number gain See cases [RCV000142062] Chr17:3168370..3862518 [GRCh38]
Chr17:3071664..3765812 [GRCh37]
Chr17:3018414..3712561 [NCBI36]
Chr17:17p13.3-13.2
uncertain significance
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3187406-3880628)x3 copy number gain See cases [RCV000142793] Chr17:3187406..3880628 [GRCh38]
Chr17:3090700..3783922 [GRCh37]
Chr17:3037450..3730671 [NCBI36]
Chr17:17p13.3-13.2
uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:3168370-3852982)x3 copy number gain See cases [RCV000143610] Chr17:3168370..3852982 [GRCh38]
Chr17:3071664..3756276 [GRCh37]
Chr17:3018414..3703025 [NCBI36]
Chr17:17p13.3-13.2
likely benign|uncertain significance
NM_000049.3(ASPA):c.820G>A (p.Gly274Arg) single nucleotide variant Canavan Disease, Familial Form [RCV001293576]|Spongy degeneration of central nervous system [RCV000169117] Chr17:3498966 [GRCh38]
Chr17:3402260 [GRCh37]
Chr17:17p13.2
pathogenic|likely pathogenic
NM_000049.3(ASPA):c.859G>A (p.Ala287Thr) single nucleotide variant Canavan Disease, Familial Form [RCV000587229]|Spongy degeneration of central nervous system [RCV000169134] Chr17:3499005 [GRCh38]
Chr17:3402299 [GRCh37]
Chr17:17p13.2
pathogenic|likely pathogenic
NM_000049.3(ASPA):c.79G>A (p.Gly27Arg) single nucleotide variant Canavan Disease, Familial Form [RCV000780871]|Spongy degeneration of central nervous system [RCV000169243]|not provided [RCV000489399] Chr17:3476238 [GRCh38]
Chr17:3379532 [GRCh37]
Chr17:17p13.2
pathogenic|likely pathogenic
NM_000049.3(ASPA):c.541C>A (p.Pro181Thr) single nucleotide variant Spongy degeneration of central nervous system [RCV000169314]|not provided [RCV001093138] Chr17:3489249 [GRCh38]
Chr17:3392543 [GRCh37]
Chr17:17p13.2
pathogenic|likely pathogenic
NM_001321336.1(SPATA22):c.-73-12213_-73-12212del deletion Spongy degeneration of central nervous system [RCV000169388] Chr17:3481610..3481611 [GRCh38]
Chr17:3384904..3384905 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_001321336.1(SPATA22):c.-73-6793del deletion Spongy degeneration of central nervous system [RCV000169442] Chr17:3476191 [GRCh38]
Chr17:3379485 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_000049.3(ASPA):c.237-2A>T single nucleotide variant Canavan Disease, Familial Form [RCV000780870]|Spongy degeneration of central nervous system [RCV000169526] Chr17:3481601 [GRCh38]
Chr17:3384895 [GRCh37]
Chr17:17p13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3 copy number gain See cases [RCV000240175] Chr17:919381..4046915 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
NM_000049.3(ASPA):c.245T>C (p.Met82Thr) single nucleotide variant Spongy degeneration of central nervous system [RCV001085631]|not provided [RCV000224300] Chr17:3481611 [GRCh38]
Chr17:3384905 [GRCh37]
Chr17:17p13.2
benign|likely benign
GRCh37/hg19 17p13.2(chr17:3392623-3663528)x3 copy number gain See cases [RCV000239943] Chr17:3392623..3663528 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_000049.3(ASPA):c.935T>G (p.Leu312Ter) single nucleotide variant Spongy degeneration of central nervous system [RCV000669438] Chr17:3499081 [GRCh38]
Chr17:3402375 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_000049.3(ASPA):c.*246G>A single nucleotide variant Spongy degeneration of central nervous system [RCV000275671] Chr17:3499334 [GRCh38]
Chr17:3402628 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_000049.3(ASPA):c.905C>T (p.Thr302Met) single nucleotide variant Spongy degeneration of central nervous system [RCV000262662] Chr17:3499051 [GRCh38]
Chr17:3402345 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_000049.3(ASPA):c.906G>A (p.Thr302=) single nucleotide variant Spongy degeneration of central nervous system [RCV000320149] Chr17:3499052 [GRCh38]
Chr17:3402346 [GRCh37]
Chr17:17p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000049.3(ASPA):c.*27C>T single nucleotide variant Spongy degeneration of central nervous system [RCV000367879] Chr17:3499115 [GRCh38]
Chr17:3402409 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_000049.3(ASPA):c.509T>C (p.Ile170Thr) single nucleotide variant Intellectual disability [RCV001252156]|Spongy degeneration of central nervous system [RCV000328115] Chr17:3483575 [GRCh38]
Chr17:3386869 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_000049.3(ASPA):c.807G>A (p.Thr269=) single nucleotide variant Spongy degeneration of central nervous system [RCV000355116] Chr17:3498953 [GRCh38]
Chr17:3402247 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_000049.3(ASPA):c.-152C>T single nucleotide variant Spongy degeneration of central nervous system [RCV000276762] Chr17:3476008 [GRCh38]
Chr17:3379302 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_000049.4(ASPA):c.723T>C (p.Ala241=) single nucleotide variant Spongy degeneration of central nervous system [RCV001277951] Chr17:3494438 [GRCh38]
Chr17:3397732 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_000049.3(ASPA):c.-105T>C single nucleotide variant Spongy degeneration of central nervous system [RCV000315451] Chr17:3476055 [GRCh38]
Chr17:3379349 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_000049.4(ASPA):c.309dup (p.Asp104fs) duplication Spongy degeneration of central nervous system [RCV001170055] Chr17:3481671..3481672 [GRCh38]
Chr17:3384965..3384966 [GRCh37]
Chr17:17p13.2
pathogenic
NM_001321336.1(SPATA22):c.-74+19047_-74+19048del deletion Spongy degeneration of central nervous system [RCV000409139] Chr17:3494364..3494365 [GRCh38]
Chr17:3397658..3397659 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_000049.3(ASPA):c.640G>T (p.Glu214Ter) single nucleotide variant Spongy degeneration of central nervous system [RCV000409149] Chr17:3494355 [GRCh38]
Chr17:3397649 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_001321336.1(SPATA22):c.-74+14393_-74+14396del microsatellite Canavan Disease, Familial Form [RCV001328425]|Spongy degeneration of central nervous system [RCV000409212] Chr17:3499016..3499019 [GRCh38]
Chr17:3402310..3402313 [GRCh37]
Chr17:17p13.2
pathogenic|likely pathogenic
NM_001321336.1(SPATA22):c.-74+14344del deletion Spongy degeneration of central nervous system [RCV000409768] Chr17:3499068 [GRCh38]
Chr17:3402362 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_000049.3(ASPA):c.867C>A (p.Tyr289Ter) single nucleotide variant Spongy degeneration of central nervous system [RCV000409473] Chr17:3499013 [GRCh38]
Chr17:3402307 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_001321336.1(SPATA22):c.-73-12213del deletion Spongy degeneration of central nervous system [RCV000410405] Chr17:3481611 [GRCh38]
Chr17:3384905 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_001321336.1(SPATA22):c.-74+14343del deletion Spongy degeneration of central nervous system [RCV000410855] Chr17:3499069 [GRCh38]
Chr17:3402363 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_001321336.1(SPATA22):c.-74+19004del deletion Spongy degeneration of central nervous system [RCV000410986] Chr17:3494408 [GRCh38]
Chr17:3397702 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_000049.3(ASPA):c.731A>G (p.His244Arg) single nucleotide variant Spongy degeneration of central nervous system [RCV000411129] Chr17:3494446 [GRCh38]
Chr17:3397740 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_001321336.1(SPATA22):c.-73-12212dup duplication Canavan Disease, Familial Form [RCV000780872]|Spongy degeneration of central nervous system [RCV000411166] Chr17:3481603..3481604 [GRCh38]
Chr17:3384897..3384898 [GRCh37]
Chr17:17p13.2
pathogenic|likely pathogenic
NM_000049.3(ASPA):c.745-2A>G single nucleotide variant Spongy degeneration of central nervous system [RCV000411452] Chr17:3498889 [GRCh38]
Chr17:3402183 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_000049.3(ASPA):c.237-1G>T single nucleotide variant Spongy degeneration of central nervous system [RCV000411599] Chr17:3481602 [GRCh38]
Chr17:3384896 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_000049.4(ASPA):c.530T>C (p.Ile177Thr) single nucleotide variant Spongy degeneration of central nervous system [RCV001004866] Chr17:3489238 [GRCh38]
Chr17:3392532 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_001321336.1(SPATA22):c.-74+14439_-74+14440del deletion Spongy degeneration of central nervous system [RCV000411691] Chr17:3498972..3498973 [GRCh38]
Chr17:3402266..3402267 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_000049.3(ASPA):c.2T>C (p.Met1Thr) single nucleotide variant Spongy degeneration of central nervous system [RCV000411719] Chr17:3476161 [GRCh38]
Chr17:3379455 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_000049.3(ASPA):c.427A>T (p.Ile143Phe) single nucleotide variant Spongy degeneration of central nervous system [RCV000675094]|not provided [RCV000414045] Chr17:3481793 [GRCh38]
Chr17:3385087 [GRCh37]
Chr17:17p13.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:1751557-5378509)x1 copy number loss See cases [RCV000445994] Chr17:1751557..5378509 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
NM_000049.3(ASPA):c.368G>A (p.Gly123Glu) single nucleotide variant Spongy degeneration of central nervous system [RCV001276652]|not provided [RCV000432912] Chr17:3481734 [GRCh38]
Chr17:3385028 [GRCh37]
Chr17:17p13.2
likely pathogenic
GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486) copy number gain See cases [RCV000445679] Chr17:1113102..6742486 [GRCh37]
Chr17:17p13.3-13.1
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:48858-3379400)x1 copy number loss See cases [RCV000448506] Chr17:48858..3379400 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
NM_000049.3(ASPA):c.927C>T (p.Arg309=) single nucleotide variant Spongy degeneration of central nervous system [RCV000466053] Chr17:3499073 [GRCh38]
Chr17:3402367 [GRCh37]
Chr17:17p13.2
likely benign
GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1 copy number loss See cases [RCV000511508] Chr17:525..3825428 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
NM_000049.3(ASPA):c.770C>G (p.Pro257Arg) single nucleotide variant Spongy degeneration of central nervous system [RCV000668788]|not provided [RCV000494038] Chr17:3498916 [GRCh38]
Chr17:3402210 [GRCh37]
Chr17:17p13.2
likely pathogenic|uncertain significance
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:1922768-3429136)x3 copy number gain See cases [RCV000511855] Chr17:1922768..3429136 [GRCh37]
Chr17:17p13.3-13.2
likely pathogenic
GRCh37/hg19 17p13.2(chr17:3392348-3631198)x1 copy number loss See cases [RCV000511267] Chr17:3392348..3631198 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_000049.3(ASPA):c.539G>T (p.Gly180Val) single nucleotide variant Spongy degeneration of central nervous system [RCV000670116] Chr17:3489247 [GRCh38]
Chr17:3392541 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:2339561-3447162) copy number loss Lissencephaly [RCV000626516] Chr17:2339561..3447162 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
NM_000049.3(ASPA):c.631G>T (p.Glu211Ter) single nucleotide variant Canavan Disease, Familial Form [RCV000589812] Chr17:3489339 [GRCh38]
Chr17:3392633 [GRCh37]
Chr17:17p13.2
likely pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3 copy number gain See cases [RCV000512413] Chr17:525..4151421 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
NM_001321336.1(SPATA22):c.-74+18981A>C single nucleotide variant not provided [RCV000512768] Chr17:3494431 [GRCh38]
Chr17:3397725 [GRCh37]
Chr17:17p13.2
likely pathogenic|uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_000049.3(ASPA):c.89T>C (p.Leu30Pro) single nucleotide variant Spongy degeneration of central nervous system [RCV000672147] Chr17:3476248 [GRCh38]
Chr17:3379542 [GRCh37]
Chr17:17p13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000049.3(ASPA):c.170C>T (p.Ala57Val) single nucleotide variant Spongy degeneration of central nervous system [RCV000672434] Chr17:3476329 [GRCh38]
Chr17:3379623 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_000049.3(ASPA):c.548C>A (p.Pro183His) single nucleotide variant Spongy degeneration of central nervous system [RCV000669559] Chr17:3489256 [GRCh38]
Chr17:3392550 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_000049.3(ASPA):c.340G>T (p.Asp114Tyr) single nucleotide variant Canavan Disease, Familial Form [RCV001194237]|Spongy degeneration of central nervous system [RCV000671501] Chr17:3481706 [GRCh38]
Chr17:3385000 [GRCh37]
Chr17:17p13.2
pathogenic|likely pathogenic
NM_001321336.1(SPATA22):c.-73-19929_-73-19921del deletion Spongy degeneration of central nervous system [RCV000666943] Chr17:3489319..3489327 [GRCh38]
Chr17:3392613..3392621 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_000049.3(ASPA):c.745-1G>A single nucleotide variant Spongy degeneration of central nervous system [RCV000668013] Chr17:3498890 [GRCh38]
Chr17:3402184 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_000049.3(ASPA):c.503G>A (p.Arg168His) single nucleotide variant Canavan Disease, Familial Form [RCV001328451]|Spongy degeneration of central nervous system [RCV000665512] Chr17:3483569 [GRCh38]
Chr17:3386863 [GRCh37]
Chr17:17p13.2
pathogenic|likely pathogenic
NM_000049.3(ASPA):c.527-2A>C single nucleotide variant Spongy degeneration of central nervous system [RCV000665535] Chr17:3489233 [GRCh38]
Chr17:3392527 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_000049.3(ASPA):c.188G>C (p.Arg63Thr) single nucleotide variant Spongy degeneration of central nervous system [RCV000671923] Chr17:3476347 [GRCh38]
Chr17:3379641 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_001321336.1(SPATA22):c.-73-12350del deletion Spongy degeneration of central nervous system [RCV000667104] Chr17:3481748 [GRCh38]
Chr17:3385042 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_000049.3(ASPA):c.838C>T (p.Pro280Ser) single nucleotide variant Spongy degeneration of central nervous system [RCV000670418] Chr17:3498984 [GRCh38]
Chr17:3402278 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_000049.3(ASPA):c.432G>A (p.Lys144=) single nucleotide variant Spongy degeneration of central nervous system [RCV000670708] Chr17:3481798 [GRCh38]
Chr17:3385092 [GRCh37]
Chr17:17p13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000049.3(ASPA):c.47T>C (p.Ile16Thr) single nucleotide variant Spongy degeneration of central nervous system [RCV000665338] Chr17:3476206 [GRCh38]
Chr17:3379500 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_000049.3(ASPA):c.542C>T (p.Pro181Leu) single nucleotide variant Spongy degeneration of central nervous system [RCV000670119] Chr17:3489250 [GRCh38]
Chr17:3392544 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_001321336.1(SPATA22):c.-73-19934del deletion Spongy degeneration of central nervous system [RCV000670789] Chr17:3489332 [GRCh38]
Chr17:3392626 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_000049.3(ASPA):c.236+1G>A single nucleotide variant Spongy degeneration of central nervous system [RCV000665477] Chr17:3476396 [GRCh38]
Chr17:3379690 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_001321336.1(SPATA22):c.-74+19016_-74+19019del deletion Spongy degeneration of central nervous system [RCV000667637] Chr17:3494393..3494396 [GRCh38]
Chr17:3397687..3397690 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_000049.3(ASPA):c.427A>G (p.Ile143Val) single nucleotide variant Spongy degeneration of central nervous system [RCV000665070] Chr17:3481793 [GRCh38]
Chr17:3385087 [GRCh37]
Chr17:17p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000049.3(ASPA):c.237-1G>A single nucleotide variant Spongy degeneration of central nervous system [RCV000668560] Chr17:3481602 [GRCh38]
Chr17:3384896 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_000049.3(ASPA):c.428T>C (p.Ile143Thr) single nucleotide variant Spongy degeneration of central nervous system [RCV000673780] Chr17:3481794 [GRCh38]
Chr17:3385088 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_000049.4(ASPA):c.634+1G>T single nucleotide variant Canavan Disease, Familial Form [RCV000780869]|Spongy degeneration of central nervous system [RCV000666161]|not provided [RCV001093139] Chr17:3489343 [GRCh38]
Chr17:3392637 [GRCh37]
Chr17:17p13.2
pathogenic|likely pathogenic
NM_001321336.1(SPATA22):c.-74+14436del deletion Spongy degeneration of central nervous system [RCV000673064] Chr17:3498976 [GRCh38]
Chr17:3402270 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_000049.3(ASPA):c.839C>T (p.Pro280Leu) single nucleotide variant Spongy degeneration of central nervous system [RCV000665292] Chr17:3498985 [GRCh38]
Chr17:3402279 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_001321336.1(SPATA22):c.-74+14389_-74+14391del microsatellite Spongy degeneration of central nervous system [RCV000665625] Chr17:3499021..3499023 [GRCh38]
Chr17:3402315..3402317 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_001321336.1(SPATA22):c.-73-14183_-73-14182dup duplication Spongy degeneration of central nervous system [RCV000665376] Chr17:3483579..3483580 [GRCh38]
Chr17:3386873..3386874 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_001321336.1(SPATA22):c.-74+14470dup duplication Spongy degeneration of central nervous system [RCV000672925] Chr17:3498941..3498942 [GRCh38]
Chr17:3402235..3402236 [GRCh37]
Chr17:17p13.2
likely pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:2944083-3429136)x3 copy number gain not provided [RCV000683878] Chr17:2944083..3429136 [GRCh37]
Chr17:17p13.3-13.2
uncertain significance
NC_000017.11:g.(?_3489235)_(3729555_?)del deletion Spongy degeneration of central nervous system [RCV000707830] Chr17:3489235..3729555 [GRCh38]
Chr17:3392529..3632849 [GRCh37]
Chr17:17p13.2
pathogenic
NM_000049.4(ASPA):c.3G>T (p.Met1Ile) single nucleotide variant Spongy degeneration of central nervous system [RCV001004408] Chr17:3476162 [GRCh38]
Chr17:3379456 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_000049.3(ASPA):c.550C>T (p.Gln184Ter) single nucleotide variant Spongy degeneration of central nervous system [RCV000819561] Chr17:3489258 [GRCh38]
Chr17:3392552 [GRCh37]
Chr17:17p13.2
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:7214-3871323)x1 copy number loss not provided [RCV000739319] Chr17:7214..3871323 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3336162-4918458)x1 copy number loss not provided [RCV000739374] Chr17:3336162..4918458 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_000049.4(ASPA):c.78C>T (p.Thr26=) single nucleotide variant Spongy degeneration of central nervous system [RCV001271639]|not provided [RCV000862961] Chr17:3476237 [GRCh38]
Chr17:3379531 [GRCh37]
Chr17:17p13.2
likely benign|uncertain significance
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys) single nucleotide variant Spongy degeneration of central nervous system [RCV001004409]|not provided [RCV001093137] Chr17:3483568 [GRCh38]
Chr17:3386862 [GRCh37]
Chr17:17p13.2
pathogenic
NM_000049.4(ASPA):c.437_449del (p.Ser146fs) deletion Spongy degeneration of central nervous system [RCV001090094] Chr17:3483502..3483514 [GRCh38]
Chr17:3386796..3386808 [GRCh37]
Chr17:17p13.2
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:2050166-4315506)x1 copy number loss not provided [RCV000751897] Chr17:2050166..4315506 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
NM_000049.4(ASPA):c.832G>A (p.Val278Met) single nucleotide variant Spongy degeneration of central nervous system [RCV001271642]|not provided [RCV000864079] Chr17:3498978 [GRCh38]
Chr17:3402272 [GRCh37]
Chr17:17p13.2
likely benign|uncertain significance
NM_000049.4(ASPA):c.831C>A (p.Thr277=) single nucleotide variant not provided [RCV000866592] Chr17:3498977 [GRCh38]
Chr17:3402271 [GRCh37]
Chr17:17p13.2
likely benign
NM_000049.4(ASPA):c.115G>A (p.Ala39Thr) single nucleotide variant not provided [RCV000868496] Chr17:3476274 [GRCh38]
Chr17:3379568 [GRCh37]
Chr17:17p13.2
likely benign
NM_000049.4(ASPA):c.699G>C (p.Arg233=) single nucleotide variant not provided [RCV000869996] Chr17:3494414 [GRCh38]
Chr17:3397708 [GRCh37]
Chr17:17p13.2
likely benign
NM_000049.4(ASPA):c.637A>G (p.Lys213Glu) single nucleotide variant not provided [RCV000867593] Chr17:3494352 [GRCh38]
Chr17:3397646 [GRCh37]
Chr17:17p13.2
likely benign|conflicting interpretations of pathogenicity
NM_000049.4(ASPA):c.867C>T (p.Tyr289=) single nucleotide variant Spongy degeneration of central nervous system [RCV001271644]|not provided [RCV000865837] Chr17:3499013 [GRCh38]
Chr17:3402307 [GRCh37]
Chr17:17p13.2
likely benign|uncertain significance
NM_000049.4(ASPA):c.621T>C (p.His207=) single nucleotide variant not provided [RCV000865693] Chr17:3489329 [GRCh38]
Chr17:3392623 [GRCh37]
Chr17:17p13.2
likely benign
NM_000049.4(ASPA):c.237-6T>C single nucleotide variant Spongy degeneration of central nervous system [RCV000868259] Chr17:3481597 [GRCh38]
Chr17:3384891 [GRCh37]
Chr17:17p13.2
likely benign
NM_000049.4(ASPA):c.279T>C (p.Ala93=) single nucleotide variant not provided [RCV000866160] Chr17:3481645 [GRCh38]
Chr17:3384939 [GRCh37]
Chr17:17p13.2
likely benign
GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620) copy number gain Chromosome 17p13.3, telomeric, duplication syndrome [RCV000767586] Chr17:47546..6287620 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
NM_000049.4(ASPA):c.731A>C (p.His244Pro) single nucleotide variant Spongy degeneration of central nervous system [RCV001053309] Chr17:3494446 [GRCh38]
Chr17:3397740 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_001321336.1(SPATA22):c.-73-19863del deletion Spongy degeneration of central nervous system [RCV000778494] Chr17:3489261 [GRCh38]
Chr17:3392555 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_000049.4(ASPA):c.99T>C (p.His33=) single nucleotide variant not provided [RCV000868617] Chr17:3476258 [GRCh38]
Chr17:3379552 [GRCh37]
Chr17:17p13.2
likely benign
NM_000049.4(ASPA):c.852T>C (p.Asn284=) single nucleotide variant Spongy degeneration of central nervous system [RCV001276653]|not provided [RCV000944597] Chr17:3498998 [GRCh38]
Chr17:3402292 [GRCh37]
Chr17:17p13.2
likely benign
NM_000049.4(ASPA):c.912T>C (p.Asn304=) single nucleotide variant not provided [RCV000868634] Chr17:3499058 [GRCh38]
Chr17:3402352 [GRCh37]
Chr17:17p13.2
likely benign
NM_000049.4(ASPA):c.448C>T (p.Leu150=) single nucleotide variant Spongy degeneration of central nervous system [RCV001271640]|not provided [RCV000977770] Chr17:3483514 [GRCh38]
Chr17:3386808 [GRCh37]
Chr17:17p13.2
likely benign|uncertain significance
NM_000049.4(ASPA):c.483C>T (p.Ser161=) single nucleotide variant not provided [RCV000874175] Chr17:3483549 [GRCh38]
Chr17:3386843 [GRCh37]
Chr17:17p13.2
likely benign
NM_000049.4(ASPA):c.703G>A (p.Glu235Lys) single nucleotide variant Spongy degeneration of central nervous system [RCV001271641]|not provided [RCV000860889] Chr17:3494418 [GRCh38]
Chr17:3397712 [GRCh37]
Chr17:17p13.2
benign|uncertain significance
NM_000049.4(ASPA):c.843G>C (p.Val281=) single nucleotide variant not provided [RCV000873476] Chr17:3498989 [GRCh38]
Chr17:3402283 [GRCh37]
Chr17:17p13.2
likely benign
NM_000049.4(ASPA):c.858C>T (p.Ala286=) single nucleotide variant not provided [RCV000869538] Chr17:3499004 [GRCh38]
Chr17:3402298 [GRCh37]
Chr17:17p13.2
likely benign
NM_000049.3(ASPA):c.788T>C (p.Leu263Ser) single nucleotide variant Spongy degeneration of central nervous system [RCV000823086] Chr17:3498934 [GRCh38]
Chr17:3402228 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:3288124-3441645)x1 copy number loss not provided [RCV000849665] Chr17:3288124..3441645 [GRCh37]
Chr17:17p13.3-13.2
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:3160211-3424544)x3 copy number gain not provided [RCV000846629] Chr17:3160211..3424544 [GRCh37]
Chr17:17p13.3-13.2
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1 copy number loss See cases [RCV001007429] Chr17:8547..5627408 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
NM_000049.4(ASPA):c.147dup (p.Pro50fs) duplication Spongy degeneration of central nervous system [RCV000819100] Chr17:3476302..3476303 [GRCh38]
Chr17:3379596..3379597 [GRCh37]
Chr17:17p13.2
pathogenic
NC_000017.11:g.(?_3489225)_(3499098_?)del deletion Spongy degeneration of central nervous system [RCV000824672] Chr17:3489225..3499098 [GRCh38]
Chr17:3392519..3402392 [GRCh37]
Chr17:17p13.2
pathogenic|uncertain significance
GRCh37/hg19 17p13.2(chr17:3392348-3631198)x1 copy number loss not provided [RCV001006860] Chr17:3392348..3631198 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_000049.4(ASPA):c.236+2T>C single nucleotide variant Spongy degeneration of central nervous system [RCV001046703] Chr17:3476397 [GRCh38]
Chr17:3379691 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_000049.4(ASPA):c.941A>G (p.Ter314Trp) single nucleotide variant Spongy degeneration of central nervous system [RCV001222487] Chr17:3499087 [GRCh38]
Chr17:3402381 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_000049.4(ASPA):c.276G>C (p.Arg92Ser) single nucleotide variant not provided [RCV000996451] Chr17:3481642 [GRCh38]
Chr17:3384936 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_000049.4(ASPA):c.328G>C (p.Asp110His) single nucleotide variant Spongy degeneration of central nervous system [RCV001245867] Chr17:3481694 [GRCh38]
Chr17:3384988 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.2(chr17:3394299-3632836) copy number loss Primary familial dilated cardiomyopathy [RCV001195115] Chr17:3394299..3632836 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_000049.4(ASPA):c.114C>T (p.Gly38=) single nucleotide variant not provided [RCV000941104] Chr17:3476273 [GRCh38]
Chr17:3379567 [GRCh37]
Chr17:17p13.2
likely benign
NM_000049.4(ASPA):c.819C>T (p.Gly273=) single nucleotide variant not provided [RCV000976369] Chr17:3498965 [GRCh38]
Chr17:3402259 [GRCh37]
Chr17:17p13.2
likely benign
NM_000049.4(ASPA):c.57A>C (p.Gly19=) single nucleotide variant not provided [RCV000979409] Chr17:3476216 [GRCh38]
Chr17:3379510 [GRCh37]
Chr17:17p13.2
likely benign
NM_000049.4(ASPA):c.840C>T (p.Pro280=) single nucleotide variant Spongy degeneration of central nervous system [RCV001271643]|not provided [RCV000863930] Chr17:3498986 [GRCh38]
Chr17:3402280 [GRCh37]
Chr17:17p13.2
likely benign|uncertain significance
NM_000049.4(ASPA):c.834G>A (p.Val278=) single nucleotide variant not provided [RCV000982947] Chr17:3498980 [GRCh38]
Chr17:3402274 [GRCh37]
Chr17:17p13.2
likely benign
NM_000049.4(ASPA):c.385G>A (p.Glu129Lys) single nucleotide variant Canavan Disease, Familial Form [RCV001194236] Chr17:3481751 [GRCh38]
Chr17:3385045 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_000049.4(ASPA):c.609del (p.Asp204fs) deletion Spongy degeneration of central nervous system [RCV001004410] Chr17:3489316 [GRCh38]
Chr17:3392610 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys) single nucleotide variant Spongy degeneration of central nervous system [RCV001041199] Chr17:3476321 [GRCh38]
Chr17:3379615 [GRCh37]
Chr17:17p13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000049.4(ASPA):c.744+1G>A single nucleotide variant Spongy degeneration of central nervous system [RCV001248818] Chr17:3494460 [GRCh38]
Chr17:3397754 [GRCh37]
Chr17:17p13.2
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:3146183-3646235)x3 copy number gain not provided [RCV001006859] Chr17:3146183..3646235 [GRCh37]
Chr17:17p13.3-13.2
likely benign
NM_000049.4(ASPA):c.740T>C (p.Leu247Pro) single nucleotide variant Spongy degeneration of central nervous system [RCV001047671] Chr17:3494455 [GRCh38]
Chr17:3397749 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_000049.4(ASPA):c.806C>T (p.Thr269Met) single nucleotide variant Fraser syndrome 3 [RCV001251015] Chr17:3498952 [GRCh38]
Chr17:3402246 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_000049.4(ASPA):c.580C>T (p.Gln194Ter) single nucleotide variant Spongy degeneration of central nervous system [RCV001264316] Chr17:3489288 [GRCh38]
Chr17:3392582 [GRCh37]
Chr17:17p13.2
likely pathogenic
NM_000049.4(ASPA):c.359C>T (p.Ser120Phe) single nucleotide variant Spongy degeneration of central nervous system [RCV001260954]   uncertain significance
NM_000049.4(ASPA):c.925C>T (p.Arg309Cys) single nucleotide variant Spongy degeneration of central nervous system [RCV001277952] Chr17:3499071 [GRCh38]
Chr17:3402365 [GRCh37]
Chr17:17p13.2
uncertain significance
NM_000049.4(ASPA):c.341A>C (p.Asp114Ala) single nucleotide variant not specified [RCV001328450] Chr17:3481707 [GRCh38]
Chr17:3385001 [GRCh37]
Chr17:17p13.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:756 AgrOrtholog
COSMIC ASPA COSMIC
Ensembl Genes ENSG00000108381 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000263080 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000409976 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000458324 UniProtKB/TrEMBL
  ENSP00000461358 UniProtKB/TrEMBL
Ensembl Transcript ENST00000263080 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000456349 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000571278 UniProtKB/TrEMBL
  ENST00000577034 UniProtKB/TrEMBL
GTEx ENSG00000108381 GTEx
HGNC ID HGNC:756 ENTREZGENE
Human Proteome Map ASPA Human Proteome Map
InterPro Aspartoacylase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aste_AspA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:443 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 443 ENTREZGENE
OMIM 271900 OMIM
  608034 OMIM
Pfam AstE_AspA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25055 PharmGKB
PIRSF Aspartoacylase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ACY2_HUMAN UniProtKB/Swiss-Prot
  I3L0T3_HUMAN UniProtKB/TrEMBL
  I3L4M0_HUMAN UniProtKB/TrEMBL
  P45381 ENTREZGENE
  Q6FH48 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-08-16 ASPA  aspartoacylase  ASPA  aspartoacylase  Symbol and/or name change 5135510 APPROVED
2011-07-27 ASPA  aspartoacylase  ASPA  aspartoacylase (Canavan disease)  Symbol and/or name change 5135510 APPROVED