PPT1 (palmitoyl-protein thioesterase 1) - Rat Genome Database

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Gene: PPT1 (palmitoyl-protein thioesterase 1) Homo sapiens
Analyze
Symbol: PPT1
Name: palmitoyl-protein thioesterase 1
RGD ID: 736552
HGNC Page HGNC
Description: Enables lysophosphatidic acid binding activity; sulfatide binding activity; and thiolester hydrolase activity. Involved in several processes, including lysosomal lumen acidification; positive regulation of endocytosis; and protein depalmitoylation. Acts upstream of or within pinocytosis and receptor-mediated endocytosis. Located in several cellular components, including Golgi apparatus; membrane raft; and synaptic vesicle. Implicated in neuronal ceroid lipofuscinosis 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ceroid-palmitoyl-palmitoyl-protein thioesterase 1; CLN1; INCL; palmitoyl-protein hydrolase 1; palmitoyl-protein thioesterase; PPT; PPT-1
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 Ensembl140,072,710 - 40,097,260 (-)EnsemblGRCh38hg38GRCh38
GRCh38140,071,461 - 40,097,252 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37140,537,133 - 40,562,924 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36140,310,969 - 40,335,555 (-)NCBINCBI36hg18NCBI36
Build 34140,207,476 - 40,232,061NCBI
Celera138,820,669 - 38,845,442 (-)NCBI
Cytogenetic Map1p34.2NCBI
HuRef138,656,433 - 38,681,192 (-)NCBIHuRef
CHM1_1140,653,983 - 40,678,773 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7916016   PMID:8325646   PMID:8633062   PMID:8786130   PMID:8816748   PMID:8895569   PMID:9425237   PMID:9571187   PMID:9664077   PMID:10416973   PMID:10658183   PMID:10737604  
PMID:10740217   PMID:10992246   PMID:11020216   PMID:11136716   PMID:11440996   PMID:11506414   PMID:11588997   PMID:11722572   PMID:12025857   PMID:12125808   PMID:12477932   PMID:12483688  
PMID:12754519   PMID:12855696   PMID:15489334   PMID:15929065   PMID:16303743   PMID:16344560   PMID:16518810   PMID:16542649   PMID:16571600   PMID:17207965   PMID:17237713   PMID:17261688  
PMID:17314511   PMID:18317235   PMID:18704195   PMID:19054571   PMID:19165527   PMID:19201763   PMID:19302939   PMID:19793631   PMID:19941651   PMID:19946888   PMID:20301334   PMID:20301601  
PMID:21704547   PMID:21873635   PMID:21988832   PMID:22268729   PMID:22520356   PMID:22939629   PMID:23376485   PMID:23533145   PMID:24083319   PMID:25233404   PMID:25544563   PMID:25865307  
PMID:26217791   PMID:26344197   PMID:26731412   PMID:26972000   PMID:27684187   PMID:28334871   PMID:28380382   PMID:28899863   PMID:28978646   PMID:29631617   PMID:29911972   PMID:30442709  
PMID:30541466   PMID:30561431   PMID:31182584   PMID:31586073   PMID:32353859   PMID:32460013   PMID:32814053   PMID:33060197   PMID:33561134  


Genomics

Comparative Map Data
PPT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl140,072,710 - 40,097,260 (-)EnsemblGRCh38hg38GRCh38
GRCh38140,071,461 - 40,097,252 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37140,537,133 - 40,562,924 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36140,310,969 - 40,335,555 (-)NCBINCBI36hg18NCBI36
Build 34140,207,476 - 40,232,061NCBI
Celera138,820,669 - 38,845,442 (-)NCBI
Cytogenetic Map1p34.2NCBI
HuRef138,656,433 - 38,681,192 (-)NCBIHuRef
CHM1_1140,653,983 - 40,678,773 (-)NCBICHM1_1
Ppt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394122,729,879 - 122,752,968 (+)NCBIGRCm39mm39
GRCm39 Ensembl4122,730,035 - 122,752,968 (+)Ensembl
GRCm384122,836,077 - 122,859,175 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4122,836,242 - 122,859,175 (+)EnsemblGRCm38mm10GRCm38
MGSCv374122,513,485 - 122,536,418 (+)NCBIGRCm37mm9NCBIm37
MGSCv364122,338,558 - 122,360,685 (+)NCBImm8
Celera4121,166,717 - 121,189,624 (+)NCBICelera
Cytogenetic Map4D2.2NCBI
cM Map457.27NCBI
Ppt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25135,121,176 - 135,141,076 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl5140,538,260 - 140,558,162 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.05140,538,260 - 140,558,163 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.05144,329,263 - 144,349,162 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45142,153,498 - 142,173,401 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15142,158,725 - 142,179,598 (+)NCBI
Celera5133,659,813 - 133,679,711 (+)NCBICelera
RH 3.4 Map5890.0RGD
Cytogenetic Map5q36NCBI
Ppt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545217,529,115 - 17,549,664 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545217,518,345 - 17,549,112 (-)NCBIChiLan1.0ChiLan1.0
PPT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1140,683,841 - 40,708,609 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl140,683,841 - 40,708,609 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0139,358,424 - 39,383,087 (-)NCBIMhudiblu_PPA_v0panPan3
PPT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1152,815,428 - 2,886,474 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl152,859,979 - 2,894,425 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha153,117,325 - 3,143,210 (+)NCBI
ROS_Cfam_1.0152,902,313 - 2,973,313 (+)NCBI
UMICH_Zoey_3.1152,854,181 - 2,880,060 (+)NCBI
UNSW_CanFamBas_1.0152,914,086 - 2,939,964 (+)NCBI
UU_Cfam_GSD_1.0152,930,482 - 2,956,365 (+)NCBI
Ppt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505856,056,908 - 56,081,782 (-)NCBI
SpeTri2.0NW_00493647421,881,692 - 21,906,564 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PPT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl695,840,905 - 95,860,837 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1695,840,906 - 95,860,858 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2689,280,518 - 89,300,475 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PPT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12092,809,373 - 92,833,048 (+)NCBI
ChlSab1.1 Ensembl2092,809,552 - 92,833,244 (+)Ensembl
Vero_WHO_p1.0NW_02366603324,006,277 - 24,030,955 (-)NCBI
Ppt1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476422,542,892 - 22,577,077 (-)NCBI

Position Markers
WI-12268  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37140,538,411 - 40,538,535UniSTSGRCh37
Build 36140,310,998 - 40,311,122RGDNCBI36
Celera138,820,698 - 38,820,822RGD
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p32UniSTS
HuRef138,656,462 - 38,656,586UniSTS
GeneMap99-GB4 RH Map1133.84UniSTS
GeneMap99-GB4 RH Map1125.2UniSTS
Whitehead-RH Map1138.7UniSTS
AL010071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37140,553,325 - 40,553,475UniSTSGRCh37
Build 36140,325,912 - 40,326,062RGDNCBI36
Celera138,835,611 - 38,835,761RGD
Cytogenetic Map1p32UniSTS
HuRef138,671,346 - 38,671,496UniSTS
SHGC-74659  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37140,537,944 - 40,538,142UniSTSGRCh37
Build 36140,310,531 - 40,310,729RGDNCBI36
Celera138,820,231 - 38,820,429RGD
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p32UniSTS
HuRef138,655,995 - 38,656,193UniSTS
TNG Radiation Hybrid Map119342.0UniSTS
GeneMap99-GB4 RH Map1125.2UniSTS
A006O26  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37140,539,567 - 40,539,727UniSTSGRCh37
Build 36140,312,154 - 40,312,314RGDNCBI36
Celera138,821,854 - 38,822,014RGD
Cytogenetic Map1p32UniSTS
HuRef138,657,622 - 38,657,782UniSTS
GeneMap99-GB4 RH Map1139.72UniSTS
D1S1857E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37140,538,422 - 40,538,558UniSTSGRCh37
Build 36140,311,009 - 40,311,145RGDNCBI36
Celera138,820,709 - 38,820,845RGD
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p32UniSTS
HuRef138,656,473 - 38,656,609UniSTS
TNG Radiation Hybrid Map119346.0UniSTS
GeneMap99-GB4 RH Map1121.03UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2529
Count of miRNA genes:854
Interacting mature miRNAs:997
Transcripts:ENST00000372775, ENST00000372779, ENST00000433473, ENST00000439754, ENST00000449045, ENST00000526547, ENST00000527311, ENST00000529905, ENST00000530076, ENST00000530704
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 1 2 1 13 8
Medium 2435 2850 1544 446 1944 287 3955 1664 3719 413 1447 1604 175 1 1204 2386 6 2
Low 4 140 182 178 5 178 402 533 15 5 1 402
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH005578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX441569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA504318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH961862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L42809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L48926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U44772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000372775
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl140,073,816 - 40,078,835 (-)Ensembl
RefSeq Acc Id: ENST00000372779   ⟹   ENSP00000361865
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl140,080,447 - 40,097,245 (-)Ensembl
RefSeq Acc Id: ENST00000433473   ⟹   ENSP00000394863
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl140,072,726 - 40,097,252 (-)Ensembl
RefSeq Acc Id: ENST00000439754   ⟹   ENSP00000403207
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl140,072,729 - 40,097,252 (-)Ensembl
RefSeq Acc Id: ENST00000449045   ⟹   ENSP00000392293
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl140,072,738 - 40,097,260 (-)Ensembl
RefSeq Acc Id: ENST00000526547   ⟹   ENSP00000436481
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl140,089,495 - 40,097,212 (-)Ensembl
RefSeq Acc Id: ENST00000527311   ⟹   ENSP00000436695
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl140,074,127 - 40,097,252 (-)Ensembl
RefSeq Acc Id: ENST00000529905   ⟹   ENSP00000432053
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl140,072,938 - 40,097,245 (-)Ensembl
RefSeq Acc Id: ENST00000530076   ⟹   ENSP00000434007
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl140,072,712 - 40,082,321 (-)Ensembl
RefSeq Acc Id: ENST00000530704   ⟹   ENSP00000431655
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl140,072,726 - 40,097,252 (-)Ensembl
RefSeq Acc Id: ENST00000641083   ⟹   ENSP00000493369
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl140,072,719 - 40,097,216 (-)Ensembl
RefSeq Acc Id: ENST00000641236
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl140,072,738 - 40,097,250 (-)Ensembl
RefSeq Acc Id: ENST00000641319   ⟹   ENSP00000493128
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl140,072,726 - 40,097,254 (-)Ensembl
RefSeq Acc Id: ENST00000641381   ⟹   ENSP00000493359
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl140,073,786 - 40,091,373 (-)Ensembl
RefSeq Acc Id: ENST00000641471   ⟹   ENSP00000493146
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl140,072,710 - 40,097,247 (-)Ensembl
RefSeq Acc Id: ENST00000641548   ⟹   ENSP00000492984
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl140,089,516 - 40,097,252 (-)Ensembl
RefSeq Acc Id: ENST00000641691   ⟹   ENSP00000492910
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl140,072,738 - 40,097,254 (-)Ensembl
RefSeq Acc Id: ENST00000641924   ⟹   ENSP00000493063
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl140,074,024 - 40,097,242 (-)Ensembl
RefSeq Acc Id: ENST00000642050   ⟹   ENSP00000493153
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl140,071,461 - 40,097,727 (-)Ensembl
RefSeq Acc Id: NM_000310   ⟹   NP_000301
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38140,072,712 - 40,097,252 (-)NCBI
GRCh37140,538,382 - 40,563,142 (-)ENTREZGENE
GRCh37140,538,382 - 40,563,142 (-)NCBI
Build 36140,310,969 - 40,335,555 (-)NCBI Archive
HuRef138,656,433 - 38,681,192 (-)ENTREZGENE
CHM1_1140,653,983 - 40,678,773 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001142604   ⟹   NP_001136076
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38140,071,461 - 40,097,252 (-)NCBI
GRCh37140,538,382 - 40,563,142 (-)NCBI
HuRef138,656,433 - 38,681,192 (-)ENTREZGENE
CHM1_1140,653,983 - 40,678,773 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363695   ⟹   NP_001350624
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38140,071,461 - 40,097,252 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_001136076   ⟸   NM_001142604
- Peptide Label: isoform 2 precursor
- UniProtKB: P50897 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000301   ⟸   NM_000310
- Peptide Label: isoform 1 precursor
- UniProtKB: P50897 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001350624   ⟸   NM_001363695
- Peptide Label: isoform 3 precursor
RefSeq Acc Id: ENSP00000403207   ⟸   ENST00000439754
RefSeq Acc Id: ENSP00000361865   ⟸   ENST00000372779
RefSeq Acc Id: ENSP00000431655   ⟸   ENST00000530704
RefSeq Acc Id: ENSP00000434007   ⟸   ENST00000530076
RefSeq Acc Id: ENSP00000493369   ⟸   ENST00000641083
RefSeq Acc Id: ENSP00000492984   ⟸   ENST00000641548
RefSeq Acc Id: ENSP00000493146   ⟸   ENST00000641471
RefSeq Acc Id: ENSP00000493128   ⟸   ENST00000641319
RefSeq Acc Id: ENSP00000493359   ⟸   ENST00000641381
RefSeq Acc Id: ENSP00000493063   ⟸   ENST00000641924
RefSeq Acc Id: ENSP00000492910   ⟸   ENST00000641691
RefSeq Acc Id: ENSP00000493153   ⟸   ENST00000642050
RefSeq Acc Id: ENSP00000394863   ⟸   ENST00000433473
RefSeq Acc Id: ENSP00000436481   ⟸   ENST00000526547
RefSeq Acc Id: ENSP00000436695   ⟸   ENST00000527311
RefSeq Acc Id: ENSP00000392293   ⟸   ENST00000449045
RefSeq Acc Id: ENSP00000432053   ⟸   ENST00000529905

Promoters
RGD ID:6855096
Promoter ID:EPDNEW_H713
Type:initiation region
Name:PPT1_1
Description:palmitoyl-protein thioesterase 1
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
GRCh38140,097,252 - 40,097,312EPDNEW
RGD ID:6786298
Promoter ID:HG_KWN:2191
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:ENST00000372776,   NM_001142604,   OTTHUMT00000013126,   OTTHUMT00000013127,   UC009VWA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36140,335,264 - 40,335,764 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000310.3(PPT1):c.810G>A (p.Gly270=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000525842] Chr1:40074172 [GRCh38]
Chr1:40539844 [GRCh37]
Chr1:1p34.2
likely benign
NM_001142604.2(PPT1):c.125-2895C>T single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000531034] Chr1:40092407 [GRCh38]
Chr1:40558079 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.3(PPT1):c.364A>T (p.Arg122Trp) single nucleotide variant Inborn genetic diseases [RCV000623227]|Neuronal ceroid lipofuscinosis 1 [RCV000009450]|Neuronal ceroid lipofuscinosis [RCV000581618]|not provided [RCV000188724] Chr1:40091398 [GRCh38]
Chr1:40557070 [GRCh37]
Chr1:1p34.2
pathogenic
NM_000310.3(PPT1):c.223A>C (p.Thr75Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000009451]|not provided [RCV000188709] Chr1:40092409 [GRCh38]
Chr1:40558081 [GRCh37]
Chr1:1p34.2
pathogenic
NM_001142604.2(PPT1):c.125-2659A>G single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000009452] Chr1:40092171 [GRCh38]
Chr1:40557843 [GRCh37]
Chr1:1p34.2
pathogenic
NM_000310.3(PPT1):c.656T>A (p.Leu219Gln) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000009453] Chr1:40078630 [GRCh38]
Chr1:40544302 [GRCh37]
Chr1:1p34.2
pathogenic
NM_000310.3(PPT1):c.29T>A (p.Leu10Ter) single nucleotide variant History of neurodevelopmental disorder [RCV000715556]|Neuronal ceroid lipofuscinosis 1 [RCV000009454]|not provided [RCV000188716] Chr1:40097210 [GRCh38]
Chr1:40562882 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) single nucleotide variant History of neurodevelopmental disorder [RCV000718904]|Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000352109]|Neuronal ceroid lipofuscinosis 1 [RCV000009455]|Neuronal ceroid lipofuscinosis [RCV000583336]|not provided [RCV000188718] Chr1:40089495 [GRCh38]
Chr1:40555167 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic
PPT1, 1-BP INS, 169A insertion Neuronal ceroid lipofuscinosis 1 [RCV000009456] Chr1:1p32 pathogenic
PPT1, 451C-T single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000009457] Chr1:1p32 pathogenic
NM_001142604.2(PPT1):c.125-2573G>C single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000009458] Chr1:40092085 [GRCh38]
Chr1:40557757 [GRCh37]
Chr1:1p34.2
pathogenic
NM_001142604.2(PPT1):c.125-2986G>A single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000009459] Chr1:40092498 [GRCh38]
Chr1:40558170 [GRCh37]
Chr1:1p34.2
pathogenic
NM_000310.3(PPT1):c.445C>A (p.Leu149Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000641276] Chr1:40089501 [GRCh38]
Chr1:40555173 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.17G>A (p.Cys6Tyr) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000641287] Chr1:40097222 [GRCh38]
Chr1:40562894 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001142604.2(PPT1):c.125-2624C>G single nucleotide variant not provided [RCV000729450] Chr1:40092136 [GRCh38]
Chr1:40557808 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.124+6T>C single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000545427] Chr1:40097109 [GRCh38]
Chr1:40562781 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.543G>A (p.Val181=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000861558]|not specified [RCV000602645] Chr1:40080481 [GRCh38]
Chr1:40546153 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.3(PPT1):c.627+1G>T single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000544945] Chr1:40080396 [GRCh38]
Chr1:40546068 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.769C>A (p.Pro257Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000547540] Chr1:40076871 [GRCh38]
Chr1:40542543 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.802C>T (p.Arg268Cys) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000641280]|not provided [RCV000519603] Chr1:40074180 [GRCh38]
Chr1:40539852 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.*526_*529del deletion Neuronal ceroid lipofuscinosis 1 [RCV000049552] Chr1:40073532..40073535 [GRCh38]
Chr1:40539204..40539207 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.114G>A (p.Trp38Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049553] Chr1:40097125 [GRCh38]
Chr1:40562797 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.114G>T (p.Trp38Cys) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049554] Chr1:40097125 [GRCh38]
Chr1:40562797 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.114del (p.Trp38fs) deletion Neuronal ceroid lipofuscinosis 1 [RCV000049585] Chr1:40097125 [GRCh38]
Chr1:40562797 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.117T>A (p.His39Gln) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049586] Chr1:40097122 [GRCh38]
Chr1:40562794 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.124+1G>A single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049587] Chr1:40097114 [GRCh38]
Chr1:40562786 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.125-15T>G single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049588] Chr1:40092522 [GRCh38]
Chr1:40558194 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.125-2A>G single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049589] Chr1:40092509 [GRCh38]
Chr1:40558181 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.125G>A (p.Gly42Glu) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049590] Chr1:40092507 [GRCh38]
Chr1:40558179 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_001142604.2(PPT1):c.125-2985_125-2983dup duplication Neuronal ceroid lipofuscinosis 1 [RCV000049591] Chr1:40092494..40092495 [GRCh38]
Chr1:40558166..40558167 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.163A>T (p.Lys55Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049592] Chr1:40092469 [GRCh38]
Chr1:40558141 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_001142604.2(PPT1):c.125-2957dup duplication Neuronal ceroid lipofuscinosis 1 [RCV000049593]|Neuronal ceroid lipofuscinosis [RCV000584447]|not provided [RCV001009045] Chr1:40092462..40092463 [GRCh38]
Chr1:40558134..40558135 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001142604.2(PPT1):c.125-2945del deletion Neuronal ceroid lipofuscinosis 1 [RCV000049594] Chr1:40092457 [GRCh38]
Chr1:40558129 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000310.3(PPT1):c.235-3T>C single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049595] Chr1:40092175 [GRCh38]
Chr1:40557847 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.4(PPT1):c.249CTT[2] (p.Phe85del) microsatellite Neuronal ceroid lipofuscinosis 1 [RCV000049596] Chr1:40092150..40092152 [GRCh38]
Chr1:40557822..40557824 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.4(PPT1):c.271_287delinsTT (p.Gln91_Cys96delinsPhe) indel Neuronal ceroid lipofuscinosis 1 [RCV000049597] Chr1:40092120..40092136 [GRCh38]
Chr1:40557792..40557808 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.272A>C (p.Gln91Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049598] Chr1:40092135 [GRCh38]
Chr1:40557807 [GRCh37]
Chr1:1p34.2
likely pathogenic|uncertain significance
NM_000310.3(PPT1):c.287G>A (p.Cys96Tyr) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049599] Chr1:40092120 [GRCh38]
Chr1:40557792 [GRCh37]
Chr1:1p34.2
likely pathogenic|uncertain significance
NM_000310.3(PPT1):c.310A>T (p.Lys104Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049600] Chr1:40092097 [GRCh38]
Chr1:40557769 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.325T>G (p.Tyr109Asp) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049601]|not provided [RCV000188711] Chr1:40092082 [GRCh38]
Chr1:40557754 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic
NM_000310.3(PPT1):c.363-3T>G single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049602] Chr1:40091402 [GRCh38]
Chr1:40557074 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_001142604.2(PPT1):c.125-1852del deletion Neuronal ceroid lipofuscinosis 1 [RCV000049603] Chr1:40091364 [GRCh38]
Chr1:40557036 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.3G>A (p.Met1Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049604]|Neuronal ceroid lipofuscinosis [RCV000589397] Chr1:40097236 [GRCh38]
Chr1:40562908 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic
NM_000310.3(PPT1):c.413C>T (p.Ser138Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049605] Chr1:40091349 [GRCh38]
Chr1:40557021 [GRCh37]
Chr1:1p34.2
likely pathogenic|uncertain significance
NM_000310.3(PPT1):c.455G>A (p.Cys152Tyr) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049606] Chr1:40089491 [GRCh38]
Chr1:40555163 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.456C>A (p.Cys152Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049607] Chr1:40089490 [GRCh38]
Chr1:40555162 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_001142604.2(PPT1):c.181C>T (p.Arg61Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049608] Chr1:40089456 [GRCh38]
Chr1:40555128 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000310.3(PPT1):c.529C>G (p.Gln177Glu) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049609]|not provided [RCV000188719] Chr1:40089417 [GRCh38]
Chr1:40555089 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic
NM_000310.3(PPT1):c.536+1G>A single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049610]|Neuronal ceroid lipofuscinosis [RCV000584560] Chr1:40089409 [GRCh38]
Chr1:40555081 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic
NM_000310.3(PPT1):c.536+2T>C single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049611] Chr1:40089408 [GRCh38]
Chr1:40555080 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.538dup (p.Leu180fs) duplication Neuronal ceroid lipofuscinosis 1 [RCV000049612] Chr1:40080485..40080486 [GRCh38]
Chr1:40546157..40546158 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.541G>T (p.Val181Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049613]|Neuronal ceroid lipofuscinosis [RCV001526944]|not provided [RCV000436288] Chr1:40080483 [GRCh38]
Chr1:40546155 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic
NM_000310.3(PPT1):c.544C>T (p.Gln182Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049614] Chr1:40080480 [GRCh38]
Chr1:40546152 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.550G>A (p.Glu184Lys) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049615]|not provided [RCV000731854] Chr1:40080474 [GRCh38]
Chr1:40546146 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic
NM_000310.3(PPT1):c.558G>A (p.Trp186Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049616] Chr1:40080466 [GRCh38]
Chr1:40546138 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.560A>G (p.His187Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049617] Chr1:40080464 [GRCh38]
Chr1:40546136 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.566C>G (p.Pro189Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049618] Chr1:40080458 [GRCh38]
Chr1:40546130 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.628-1G>T single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049619]|Neuronal ceroid lipofuscinosis [RCV000587410] Chr1:40078659 [GRCh38]
Chr1:40544331 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic
NM_000310.3(PPT1):c.644del (p.Tyr215fs) deletion Neuronal ceroid lipofuscinosis 1 [RCV000049620] Chr1:40078642 [GRCh38]
Chr1:40544314 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.4(PPT1):c.665T>C single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049621]|Neuronal ceroid lipofuscinosis [RCV001192781] Chr1:40078621 [GRCh38]
Chr1:40544293 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic
NM_000310.3(PPT1):c.674T>C (p.Phe225Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049622] Chr1:40078612 [GRCh38]
Chr1:40544284 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.683T>G (p.Val228Gly) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049623] Chr1:40078603 [GRCh38]
Chr1:40544275 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.727-2A>T single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049624]|not provided [RCV000224164] Chr1:40076915 [GRCh38]
Chr1:40542587 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000310.3(PPT1):c.739T>C (p.Tyr247His) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049625]|not provided [RCV000726872] Chr1:40076901 [GRCh38]
Chr1:40542573 [GRCh37]
Chr1:1p34.2
likely pathogenic|uncertain significance
NM_000310.3(PPT1):c.749G>T (p.Gly250Val) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049626] Chr1:40076891 [GRCh38]
Chr1:40542563 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_001363695.2(PPT1):c.726+1694dup duplication Neuronal ceroid lipofuscinosis 1 [RCV000049627] Chr1:40076865..40076866 [GRCh38]
Chr1:40542537..40542538 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.871C>T (p.Gln291Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049628] Chr1:40074111 [GRCh38]
Chr1:40539783 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic
NM_000310.3(PPT1):c.886T>C (p.Trp296Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049629] Chr1:40074096 [GRCh38]
Chr1:40539768 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.888G>A (p.Trp296Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049630] Chr1:40074094 [GRCh38]
Chr1:40539766 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.914T>C (p.Leu305Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000049631] Chr1:40074068 [GRCh38]
Chr1:40539740 [GRCh37]
Chr1:1p34.2
likely pathogenic
GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3 copy number gain See cases [RCV000051815] Chr1:39360747..40900817 [GRCh38]
Chr1:39826419..41366489 [GRCh37]
Chr1:39599006..41139076 [NCBI36]
Chr1:1p34.3-34.2
pathogenic
GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|See cases [RCV000051817] Chr1:39479787..47688131 [GRCh38]
Chr1:39945459..48153803 [GRCh37]
Chr1:39718046..47926390 [NCBI36]
Chr1:1p34.3-33
pathogenic
GRCh38/hg38 1p34.3-34.1(chr1:38222737-45636176)x3 copy number gain See cases [RCV000051803] Chr1:38222737..45636176 [GRCh38]
Chr1:38688409..46101848 [GRCh37]
Chr1:38460996..45874435 [NCBI36]
Chr1:1p34.3-34.1
pathogenic
GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1 copy number loss See cases [RCV000053805] Chr1:38108665..42327551 [GRCh38]
Chr1:38574337..42793222 [GRCh37]
Chr1:38346924..42565809 [NCBI36]
Chr1:1p34.3-34.2
pathogenic
NM_000310.3(PPT1):c.229A>G (p.Met77Val) single nucleotide variant not provided [RCV000118045] Chr1:40092403 [GRCh38]
Chr1:40558075 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.363-4G>A single nucleotide variant Central core myopathy [RCV001258248]|History of neurodevelopmental disorder [RCV000716235]|Neuronal ceroid lipofuscinosis 1 [RCV000225917]|not provided [RCV000675772]|not specified [RCV000118046] Chr1:40091403 [GRCh38]
Chr1:40557075 [GRCh37]
Chr1:1p34.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000310.3(PPT1):c.401T>C (p.Ile134Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000715345]|Neuronal ceroid lipofuscinosis 1 [RCV000306615]|not provided [RCV000675771]|not specified [RCV000118047] Chr1:40091361 [GRCh38]
Chr1:40557033 [GRCh37]
Chr1:1p34.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000310.3(PPT1):c.837G>C (p.Gln279His) single nucleotide variant History of neurodevelopmental disorder [RCV000715954]|Neuronal ceroid lipofuscinosis 1 [RCV001083646]|not provided [RCV000675768]|not specified [RCV000118048] Chr1:40074145 [GRCh38]
Chr1:40539817 [GRCh37]
Chr1:1p34.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000310.3(PPT1):c.537-4A>G single nucleotide variant not specified [RCV000127584] Chr1:40080491 [GRCh38]
Chr1:40546163 [GRCh37]
Chr1:1p34.2
benign
NM_000310.3(PPT1):c.799-19A>C single nucleotide variant not provided [RCV000675769]|not specified [RCV000127585] Chr1:40074202 [GRCh38]
Chr1:40539874 [GRCh37]
Chr1:1p34.2
benign|likely benign
NM_000310.3(PPT1):c.*3C>A single nucleotide variant History of neurodevelopmental disorder [RCV000715170]|Neuronal ceroid lipofuscinosis 1 [RCV000371863]|Neuronal ceroid lipofuscinosis [RCV000582206]|not specified [RCV000127587] Chr1:40074058 [GRCh38]
Chr1:40539730 [GRCh37]
Chr1:1p34.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000310.3(PPT1):c.6G>A (p.Ala2=) single nucleotide variant not provided [RCV000127588] Chr1:40097233 [GRCh38]
Chr1:40562905 [GRCh37]
Chr1:1p34.2
benign
NM_000310.3(PPT1):c.*12T>C single nucleotide variant not specified [RCV000127589] Chr1:40074049 [GRCh38]
Chr1:40539721 [GRCh37]
Chr1:1p34.2
benign
NM_000310.3(PPT1):c.234+6G>A single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001242283]|not specified [RCV000127590] Chr1:40092392 [GRCh38]
Chr1:40558064 [GRCh37]
Chr1:1p34.2
benign|uncertain significance
NM_000310.3(PPT1):c.235-20C>A single nucleotide variant not specified [RCV000127591] Chr1:40092192 [GRCh38]
Chr1:40557864 [GRCh37]
Chr1:1p34.2
benign
NM_000310.3(PPT1):c.363-19A>G single nucleotide variant not specified [RCV000127592] Chr1:40091418 [GRCh38]
Chr1:40557090 [GRCh37]
Chr1:1p34.2
benign
NM_000310.3(PPT1):c.363-18C>G single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001511258]|not provided [RCV000675773]|not specified [RCV000127593] Chr1:40091417 [GRCh38]
Chr1:40557089 [GRCh37]
Chr1:1p34.2
benign|likely benign
NM_000310.3(PPT1):c.-29C>G single nucleotide variant not specified [RCV000127596] Chr1:40097267 [GRCh38]
Chr1:40562939 [GRCh37]
Chr1:1p34.2
benign
NM_000310.3(PPT1):c.124+18T>G single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001523187]|not provided [RCV000675774]|not specified [RCV000127597] Chr1:40097097 [GRCh38]
Chr1:40562769 [GRCh37]
Chr1:1p34.2
benign
NM_000310.4(PPT1):c.902T>A (p.Ile301Asn) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001332357] Chr1:40074080 [GRCh38]
Chr1:40539752 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.810del (p.Gly270_Leu271insTer) deletion not provided [RCV000180489] Chr1:40074172 [GRCh38]
Chr1:40539844 [GRCh37]
Chr1:1p34.2
pathogenic
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 copy number gain See cases [RCV000138891] Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2
pathogenic
NM_000310.4(PPT1):c.541G>A single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000169209] Chr1:40080483 [GRCh38]
Chr1:40546155 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic
NM_000310.3(PPT1):c.433G>C (p.Gly145Arg) single nucleotide variant History of neurodevelopmental disorder [RCV000720248]|not provided [RCV000178074]|not specified [RCV001420748] Chr1:40091329 [GRCh38]
Chr1:40557001 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.*6G>A single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001098457]|not provided [RCV000675767]|not specified [RCV000127588] Chr1:40074055 [GRCh38]
Chr1:40539727 [GRCh37]
Chr1:1p34.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000310.3(PPT1):c.722C>T (p.Ser241Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000670818]|not provided [RCV000179745] Chr1:40078564 [GRCh38]
Chr1:40544236 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.904A>G (p.Ile302Val) single nucleotide variant History of neurodevelopmental disorder [RCV000720864]|Intellectual disability [RCV001252358]|Neuronal ceroid lipofuscinosis 1 [RCV000515384]|not provided [RCV000435004] Chr1:40074078 [GRCh38]
Chr1:40539750 [GRCh37]
Chr1:1p34.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000310.3(PPT1):c.329A>G (p.Asn110Ser) single nucleotide variant Intellectual disability [RCV001252359]|Neuronal ceroid lipofuscinosis 1 [RCV000625813]|not provided [RCV000724058] Chr1:40092078 [GRCh38]
Chr1:40557750 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.*1154T>C single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000264956] Chr1:40072907 [GRCh38]
Chr1:40538579 [GRCh37]
Chr1:1p34.2
likely benign|uncertain significance
NM_000310.3(PPT1):c.*161T>C single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000261946] Chr1:40073900 [GRCh38]
Chr1:40539572 [GRCh37]
Chr1:1p34.2
benign|likely benign
NM_000310.3(PPT1):c.-109C>A single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000259483] Chr1:40097347 [GRCh38]
Chr1:40563019 [GRCh37]
Chr1:1p34.2
benign|likely benign
NM_000310.3(PPT1):c.62C>T (p.Ser21Phe) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001343989]|not specified [RCV000188703] Chr1:40097177 [GRCh38]
Chr1:40562849 [GRCh37]
Chr1:1p34.2
likely benign|uncertain significance
NM_000310.3(PPT1):c.234+1G>A single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001233540]|not provided [RCV000188710] Chr1:40092397 [GRCh38]
Chr1:40558069 [GRCh37]
Chr1:1p34.2
pathogenic
NM_000310.3(PPT1):c.362+5G>A single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001090090]|not provided [RCV000188713] Chr1:40092040 [GRCh38]
Chr1:40557712 [GRCh37]
Chr1:1p34.2
pathogenic|uncertain significance
NM_000310.3(PPT1):c.424C>T (p.Gln142Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000412210]|not provided [RCV000188715] Chr1:40091338 [GRCh38]
Chr1:40557010 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic
NM_000310.3(PPT1):c.718G>A (p.Asp240Asn) single nucleotide variant not provided [RCV000188723] Chr1:40078568 [GRCh38]
Chr1:40544240 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.2T>C (p.Met1Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000410251]|not provided [RCV000188725] Chr1:40097237 [GRCh38]
Chr1:40562909 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic
NM_000310.3(PPT1):c.798+8G>A single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000869948]|not specified [RCV000188694] Chr1:40076834 [GRCh38]
Chr1:40542506 [GRCh37]
Chr1:1p34.2
benign|likely benign
NM_000310.3(PPT1):c.310A>G (p.Lys104Glu) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000641277]|not specified [RCV000188701] Chr1:40092097 [GRCh38]
Chr1:40557769 [GRCh37]
Chr1:1p34.2
likely benign|uncertain significance
NM_000310.3(PPT1):c.18C>T (p.Cys6=) single nucleotide variant not specified [RCV000188702] Chr1:40097221 [GRCh38]
Chr1:40562893 [GRCh37]
Chr1:1p34.2
benign
NM_000310.3(PPT1):c.627+4A>G single nucleotide variant History of neurodevelopmental disorder [RCV000718048]|Neuronal ceroid lipofuscinosis 1 [RCV001080532]|not provided [RCV000514922]|not specified [RCV000188704] Chr1:40080393 [GRCh38]
Chr1:40546065 [GRCh37]
Chr1:1p34.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000310.3(PPT1):c.762A>C (p.Glu254Asp) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000376643]|not provided [RCV000188705] Chr1:40076878 [GRCh38]
Chr1:40542550 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.175G>A (p.Glu59Lys) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000555567] Chr1:40092457 [GRCh38]
Chr1:40558129 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.199G>A (p.Val67Ile) single nucleotide variant not provided [RCV000188708] Chr1:40092433 [GRCh38]
Chr1:40558105 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.367G>A (p.Ala123Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000393506]|not provided [RCV001169850] Chr1:40091395 [GRCh38]
Chr1:40557067 [GRCh37]
Chr1:1p34.2
likely pathogenic|uncertain significance
NM_000310.3(PPT1):c.86C>A (p.Pro29Gln) single nucleotide variant not provided [RCV000188717] Chr1:40097153 [GRCh38]
Chr1:40562825 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.535C>T (p.Arg179Cys) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000661982]|not provided [RCV000766627]|not specified [RCV000188720] Chr1:40089411 [GRCh38]
Chr1:40555083 [GRCh37]
Chr1:1p34.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000310.3(PPT1):c.536G>A (p.Arg179His) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000476535]|not provided [RCV000188721] Chr1:40089410 [GRCh38]
Chr1:40555082 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.586C>T (p.Arg196Cys) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000641282] Chr1:40080438 [GRCh38]
Chr1:40546110 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.*709T>C single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000279023] Chr1:40073352 [GRCh38]
Chr1:40539024 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.234+8G>A single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000366941] Chr1:40092390 [GRCh38]
Chr1:40558062 [GRCh37]
Chr1:1p34.2
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
NM_000310.3(PPT1):c.707T>A (p.Val236Glu) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000225429] Chr1:40078579 [GRCh38]
Chr1:40544251 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.532delG (p.Glu178Asnfs) deletion Neuronal ceroid lipofuscinosis 1 [RCV000225536] Chr1:40089414 [GRCh38]
Chr1:40555086 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.713C>T (p.Pro238Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000225555] Chr1:40078573 [GRCh38]
Chr1:40544245 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic
NM_000310.3(PPT1):c.133T>C (p.Cys45Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000225611] Chr1:40092499 [GRCh38]
Chr1:40558171 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.798+1G>T single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000228420] Chr1:40076841 [GRCh38]
Chr1:40542513 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.676G>A (p.Val226Met) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000697554]|not provided [RCV000595399] Chr1:40078610 [GRCh38]
Chr1:40544282 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.433+5C>G single nucleotide variant not specified [RCV000600364] Chr1:40091324 [GRCh38]
Chr1:40556996 [GRCh37]
Chr1:1p34.2
likely benign
NM_001142604.2(PPT1):c.125-2614_125-2613del deletion Neuronal ceroid lipofuscinosis 1 [RCV000669944] Chr1:40092125..40092126 [GRCh38]
Chr1:40557797..40557798 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.*811A>G single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000282671] Chr1:40073250 [GRCh38]
Chr1:40538922 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.*456A>G single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000333291] Chr1:40073605 [GRCh38]
Chr1:40539277 [GRCh37]
Chr1:1p34.2
benign|likely benign
NM_000310.3(PPT1):c.-73G>C single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000299416] Chr1:40097311 [GRCh38]
Chr1:40562983 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.-83A>G single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000354321] Chr1:40097321 [GRCh38]
Chr1:40562993 [GRCh37]
Chr1:1p34.2
benign
NM_000310.3(PPT1):c.*90C>G single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000317277] Chr1:40073971 [GRCh38]
Chr1:40539643 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.*583G>A single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000302910] Chr1:40073478 [GRCh38]
Chr1:40539150 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.*568A>G single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000357676] Chr1:40073493 [GRCh38]
Chr1:40539165 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.*1275G>A single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000359628] Chr1:40072786 [GRCh38]
Chr1:40538458 [GRCh37]
Chr1:1p34.2
benign|likely benign
NM_000310.3(PPT1):c.*526_*529dup duplication Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000404464] Chr1:40073531..40073532 [GRCh38]
Chr1:40539203..40539204 [GRCh37]
Chr1:1p34.2
benign
NM_001142604.2(PPT1):c.*1286_*1288AAG[1] microsatellite Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000305223] Chr1:40072770..40072772 [GRCh38]
Chr1:40538442..40538444 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.*657G>A single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000407971] Chr1:40073404 [GRCh38]
Chr1:40539076 [GRCh37]
Chr1:1p34.2
benign
NM_000310.3(PPT1):c.*484C>T single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000363262] Chr1:40073577 [GRCh38]
Chr1:40539249 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.*812C>T single nucleotide variant Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000385913] Chr1:40073249 [GRCh38]
Chr1:40538921 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.-158C>T single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000324022] Chr1:40097396 [GRCh38]
Chr1:40563068 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.*679C>A single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000343305] Chr1:40073382 [GRCh38]
Chr1:40539054 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.*1062G>A single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000365352] Chr1:40072999 [GRCh38]
Chr1:40538671 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.*505C>G single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000308813] Chr1:40073556 [GRCh38]
Chr1:40539228 [GRCh37]
Chr1:1p34.2
benign
NM_000310.3(PPT1):c.*969A>G single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000389917] Chr1:40073092 [GRCh38]
Chr1:40538764 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.*1295G>C single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000390617] Chr1:40072766 [GRCh38]
Chr1:40538438 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.*388G>C single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000369266] Chr1:40073673 [GRCh38]
Chr1:40539345 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.*285T>G single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000330027] Chr1:40073776 [GRCh38]
Chr1:40539448 [GRCh37]
Chr1:1p34.2
benign
NM_000310.3(PPT1):c.*878T>C single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000331365] Chr1:40073183 [GRCh38]
Chr1:40538855 [GRCh37]
Chr1:1p34.2
benign|likely benign
NM_000310.3(PPT1):c.*1019C>T single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000270924] Chr1:40073042 [GRCh38]
Chr1:40538714 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.38C>G (p.Ala13Gly) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000641279] Chr1:40097201 [GRCh38]
Chr1:40562873 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.*340T>G single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000274870] Chr1:40073721 [GRCh38]
Chr1:40539393 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.455del (p.Cys152fs) deletion Neuronal ceroid lipofuscinosis 1 [RCV000984304]|not provided [RCV000356077] Chr1:40089491 [GRCh38]
Chr1:40555163 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic
NM_000310.3(PPT1):c.433G>A (p.Gly145Ser) single nucleotide variant not provided [RCV000261957]|not specified [RCV001201289] Chr1:40091329 [GRCh38]
Chr1:40557001 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001363695.2(PPT1):c.726+1715A>G single nucleotide variant not provided [RCV000366920] Chr1:40076845 [GRCh38]
Chr1:40542517 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.*474T>C single nucleotide variant Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000268901] Chr1:40073587 [GRCh38]
Chr1:40539259 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.1A>G (p.Met1Val) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000490479] Chr1:40097238 [GRCh38]
Chr1:40562910 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.4(PPT1):c.12C>T (p.Pro4=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001277584] Chr1:40097227 [GRCh38]
Chr1:40562899 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.288T>C (p.Cys96=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001464139]|not specified [RCV000606522] Chr1:40092119 [GRCh38]
Chr1:40557791 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.3(PPT1):c.*1088G>A single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000329319] Chr1:40072973 [GRCh38]
Chr1:40538645 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.705T>C (p.Ile235=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000291494] Chr1:40078581 [GRCh38]
Chr1:40544253 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.*910C>T single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000295641] Chr1:40073151 [GRCh38]
Chr1:40538823 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.*802C>T single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000337651] Chr1:40073259 [GRCh38]
Chr1:40538931 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.*781A>T single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000389984] Chr1:40073280 [GRCh38]
Chr1:40538952 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.*1300dup duplication Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000354098] Chr1:40072760..40072761 [GRCh38]
Chr1:40538432..40538433 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.237C>T (p.Asp79=) single nucleotide variant not specified [RCV000603881] Chr1:40092170 [GRCh38]
Chr1:40557842 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.3(PPT1):c.537-12T>C single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000393477] Chr1:40080499 [GRCh38]
Chr1:40546171 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.*998G>C single nucleotide variant Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000325938] Chr1:40073063 [GRCh38]
Chr1:40538735 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.*252C>T single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000375182] Chr1:40073809 [GRCh38]
Chr1:40539481 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.141T>C (p.Asn47=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001416658]|not specified [RCV000601022] Chr1:40092491 [GRCh38]
Chr1:40558163 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.*708A>C single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001100133] Chr1:40073353 [GRCh38]
Chr1:40539025 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.353G>A (p.Gly118Asp) single nucleotide variant Inborn genetic diseases [RCV000624853] Chr1:40092054 [GRCh38]
Chr1:40557726 [GRCh37]
Chr1:1p34.2
pathogenic
NM_000310.3(PPT1):c.71T>C (p.Leu24Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000641283] Chr1:40097168 [GRCh38]
Chr1:40562840 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.362+11T>A single nucleotide variant not specified [RCV000602883] Chr1:40092034 [GRCh38]
Chr1:40557706 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.3(PPT1):c.472C>T (p.His158Tyr) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001337832]|not provided [RCV000591247] Chr1:40089474 [GRCh38]
Chr1:40555146 [GRCh37]
Chr1:1p34.2
uncertain significance
NC_000001.10:g.(?_40539713)_(40562930_?)dup duplication Neuronal ceroid lipofuscinosis 1 [RCV000641289] Chr1:40074041..40097258 [GRCh38]
Chr1:40539713..40562930 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.327C>A (p.Tyr109Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000409057] Chr1:40092080 [GRCh38]
Chr1:40557752 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.529C>T (p.Gln177Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000409681] Chr1:40089417 [GRCh38]
Chr1:40555089 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.821dup (p.Met274fs) duplication Neuronal ceroid lipofuscinosis 1 [RCV000409710] Chr1:40074160..40074161 [GRCh38]
Chr1:40539832..40539833 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.124+2T>A single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000410017] Chr1:40097113 [GRCh38]
Chr1:40562785 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.8C>A (p.Ser3Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000410504] Chr1:40097231 [GRCh38]
Chr1:40562903 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.362+1G>A single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000410545] Chr1:40092044 [GRCh38]
Chr1:40557716 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_001142604.2(PPT1):c.125-2936del deletion Neuronal ceroid lipofuscinosis 1 [RCV000411460] Chr1:40092448 [GRCh38]
Chr1:40558120 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_001142604.2(PPT1):c.125-2601_125-2598dup duplication Neuronal ceroid lipofuscinosis 1 [RCV000411589] Chr1:40092109..40092110 [GRCh38]
Chr1:40557781..40557782 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.509G>A (p.Gly170Glu) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000560395] Chr1:40089437 [GRCh38]
Chr1:40555109 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.653dup (p.Asn218fs) duplication Neuronal ceroid lipofuscinosis 1 [RCV000411709] Chr1:40078632..40078633 [GRCh38]
Chr1:40544304..40544305 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.48_54del (p.Trp17fs) deletion Neuronal ceroid lipofuscinosis 1 [RCV000411788] Chr1:40097185..40097191 [GRCh38]
Chr1:40562857..40562863 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.198C>T (p.Tyr66=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001500058]|not specified [RCV000417699] Chr1:40092434 [GRCh38]
Chr1:40558106 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.3(PPT1):c.474C>T (p.His158=) single nucleotide variant not specified [RCV000427872] Chr1:40089472 [GRCh38]
Chr1:40555144 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.3(PPT1):c.740A>G (p.Tyr247Cys) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001341505]|not provided [RCV000420750] Chr1:40076900 [GRCh38]
Chr1:40542572 [GRCh37]
Chr1:1p34.2
likely pathogenic|uncertain significance
NM_000310.3(PPT1):c.234+18T>C single nucleotide variant not specified [RCV000419343] Chr1:40092380 [GRCh38]
Chr1:40558052 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.3(PPT1):c.390A>G (p.Ser130=) single nucleotide variant not specified [RCV000421880] Chr1:40091372 [GRCh38]
Chr1:40557044 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.3(PPT1):c.362+18A>T single nucleotide variant not specified [RCV000432465] Chr1:40092027 [GRCh38]
Chr1:40557699 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.3(PPT1):c.125-5G>A single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001464590]|not specified [RCV000430061] Chr1:40092512 [GRCh38]
Chr1:40558184 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.3(PPT1):c.363-5C>T single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000863869]|not specified [RCV000423342] Chr1:40091404 [GRCh38]
Chr1:40557076 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.3(PPT1):c.43C>T (p.Leu15=) single nucleotide variant not specified [RCV000420487] Chr1:40097196 [GRCh38]
Chr1:40562868 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.3(PPT1):c.627+9C>T single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000464229] Chr1:40080388 [GRCh38]
Chr1:40546060 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.3(PPT1):c.334A>T (p.Met112Leu) single nucleotide variant not provided [RCV000480814] Chr1:40092073 [GRCh38]
Chr1:40557745 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.124+2TGAG[2] microsatellite Neuronal ceroid lipofuscinosis 1 [RCV000457607] Chr1:40097102..40097105 [GRCh38]
Chr1:40562774..40562777 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.3(PPT1):c.234+7C>T single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000461907] Chr1:40092391 [GRCh38]
Chr1:40558063 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.810G>C (p.Gly270=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001084729]|not provided [RCV000733525] Chr1:40074172 [GRCh38]
Chr1:40539844 [GRCh37]
Chr1:1p34.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000310.3(PPT1):c.197A>G (p.Tyr66Cys) single nucleotide variant not provided [RCV000478802] Chr1:40092435 [GRCh38]
Chr1:40558107 [GRCh37]
Chr1:1p34.2
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000310.3(PPT1):c.646A>G (p.Lys216Glu) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000559599] Chr1:40078640 [GRCh38]
Chr1:40544312 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.59C>T (p.Ala20Val) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000534729] Chr1:40097180 [GRCh38]
Chr1:40562852 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.798+16T>G single nucleotide variant not specified [RCV000616386] Chr1:40076826 [GRCh38]
Chr1:40542498 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.3(PPT1):c.651A>G (p.Lys217=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000537913] Chr1:40078635 [GRCh38]
Chr1:40544307 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.647A>G single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001277583]|not provided [RCV000585383] Chr1:40078639 [GRCh38]
Chr1:40544311 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.536+10G>A single nucleotide variant not specified [RCV000616945] Chr1:40089400 [GRCh38]
Chr1:40555072 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.3(PPT1):c.433+7_433+8del deletion Neuronal ceroid lipofuscinosis 1 [RCV001435863]|not specified [RCV000616981] Chr1:40091321..40091322 [GRCh38]
Chr1:40556993..40556994 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.3(PPT1):c.726+9C>T single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001436696]|not specified [RCV000608614] Chr1:40078551 [GRCh38]
Chr1:40544223 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.3(PPT1):c.513G>A (p.Ala171=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000895521]|not specified [RCV000614615] Chr1:40089433 [GRCh38]
Chr1:40555105 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.3(PPT1):c.627+15C>T single nucleotide variant not specified [RCV000599754] Chr1:40080382 [GRCh38]
Chr1:40546054 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.3(PPT1):c.914T>G (p.Leu305Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000641278] Chr1:40074068 [GRCh38]
Chr1:40539740 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.875T>C (p.Leu292Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000641284] Chr1:40074107 [GRCh38]
Chr1:40539779 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.147A>C (p.Leu49Phe) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000641285] Chr1:40092485 [GRCh38]
Chr1:40558157 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.362+4C>T single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000641286] Chr1:40092041 [GRCh38]
Chr1:40557713 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.817G>A (p.Glu273Lys) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000641288] Chr1:40074165 [GRCh38]
Chr1:40539837 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.721del (p.Ser241fs) deletion Neuronal ceroid lipofuscinosis 1 [RCV000673437] Chr1:40078565 [GRCh38]
Chr1:40544237 [GRCh37]
Chr1:1p34.2
pathogenic|likely pathogenic
NM_000310.3(PPT1):c.426A>G (p.Gln142=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000700772] Chr1:40091336 [GRCh38]
Chr1:40557008 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.*529_*530insGTCA insertion Neuronal ceroid lipofuscinosis 1 [RCV000671312] Chr1:40073531..40073532 [GRCh38]
Chr1:40539203..40539204 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.18_21del (p.Leu7fs) deletion Neuronal ceroid lipofuscinosis 1 [RCV000667069] Chr1:40097218..40097221 [GRCh38]
Chr1:40562890..40562893 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_001142604.2(PPT1):c.*521_*532dup duplication Neuronal ceroid lipofuscinosis 1 [RCV000669557] Chr1:40073528..40073529 [GRCh38]
Chr1:40539200..40539201 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.*529_*530insAGCA insertion Neuronal ceroid lipofuscinosis 1 [RCV000665951] Chr1:40073531..40073532 [GRCh38]
Chr1:40539203..40539204 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001142604.2(PPT1):c.125-2557del deletion Neuronal ceroid lipofuscinosis 1 [RCV000674538] Chr1:40092069 [GRCh38]
Chr1:40557741 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.536+25T>C single nucleotide variant not provided [RCV000675770] Chr1:40089385 [GRCh38]
Chr1:40555057 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.3(PPT1):c.29_41dup (p.Leu15fs) duplication Neuronal ceroid lipofuscinosis 1 [RCV000666152] Chr1:40097197..40097198 [GRCh38]
Chr1:40562869..40562870 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.799-2A>G single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000668323] Chr1:40074185 [GRCh38]
Chr1:40539857 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.798+2T>C single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000674642] Chr1:40076840 [GRCh38]
Chr1:40542512 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_001142604.2(PPT1):c.125-2945_125-2943del deletion Neuronal ceroid lipofuscinosis 1 [RCV000666541] Chr1:40092455..40092457 [GRCh38]
Chr1:40558127..40558129 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001363695.2(PPT1):c.726+1696dup duplication Neuronal ceroid lipofuscinosis 1 [RCV000673195] Chr1:40076863..40076864 [GRCh38]
Chr1:40542535..40542536 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.433+1G>A single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000673308] Chr1:40091328 [GRCh38]
Chr1:40557000 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.835C>T (p.Gln279Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000666663] Chr1:40074147 [GRCh38]
Chr1:40539819 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.363-2A>G single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000667194] Chr1:40091401 [GRCh38]
Chr1:40557073 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.*529_*530insATCG insertion Neuronal ceroid lipofuscinosis 1 [RCV000667815] Chr1:40073531..40073532 [GRCh38]
Chr1:40539203..40539204 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.536+5G>T single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000685285] Chr1:40089405 [GRCh38]
Chr1:40555077 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.572A>C (p.Lys191Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000692693] Chr1:40080452 [GRCh38]
Chr1:40546124 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.628G>C (p.Gly210Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000693064] Chr1:40078658 [GRCh38]
Chr1:40544330 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.282A>G (p.Thr94=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000706137] Chr1:40092125 [GRCh38]
Chr1:40557797 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.574G>A (p.Glu192Lys) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000693946] Chr1:40080450 [GRCh38]
Chr1:40546122 [GRCh37]
Chr1:1p34.2
uncertain significance
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease, dominant intermediate C [RCV000708276] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1
uncertain significance
NM_000310.3(PPT1):c.587G>A (p.Arg196His) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000698317] Chr1:40080437 [GRCh38]
Chr1:40546109 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.283G>A (p.Val95Met) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000692159] Chr1:40092124 [GRCh38]
Chr1:40557796 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.803G>A (p.Arg268His) single nucleotide variant History of neurodevelopmental disorder [RCV000717626]|Neuronal ceroid lipofuscinosis 1 [RCV001243731] Chr1:40074179 [GRCh38]
Chr1:40539851 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.14G>C (p.Gly5Ala) single nucleotide variant History of neurodevelopmental disorder [RCV000718144]|Neuronal ceroid lipofuscinosis 1 [RCV001349783] Chr1:40097225 [GRCh38]
Chr1:40562897 [GRCh37]
Chr1:1p34.2
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000310.3(PPT1):c.644A>G (p.Tyr215Cys) single nucleotide variant not provided [RCV000761650] Chr1:40078642 [GRCh38]
Chr1:40544314 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.628-10T>C single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000945115] Chr1:40078668 [GRCh38]
Chr1:40544340 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.909A>G (p.Pro303=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000924782] Chr1:40074073 [GRCh38]
Chr1:40539745 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.657G>C (p.Leu219=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000868020] Chr1:40078629 [GRCh38]
Chr1:40544301 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.40C>T (p.Leu14Phe) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001040409] Chr1:40097199 [GRCh38]
Chr1:40562871 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.49T>G (p.Trp17Gly) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001047973] Chr1:40097190 [GRCh38]
Chr1:40562862 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.124+1215_235-103del deletion Neuronal ceroid lipofuscinosis 1 [RCV001049428] Chr1:40092275..40095900 [GRCh38]
Chr1:40557947..40561572 [GRCh37]
Chr1:1p34.2
pathogenic
NM_000310.4(PPT1):c.896C>T (p.Ala299Val) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001056794] Chr1:40074086 [GRCh38]
Chr1:40539758 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.850G>C (p.Ala284Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001069130] Chr1:40074132 [GRCh38]
Chr1:40539804 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.265A>G (p.Asn89Asp) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001069321] Chr1:40092142 [GRCh38]
Chr1:40557814 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.102del (p.Leu35fs) deletion Neuronal ceroid lipofuscinosis 1 [RCV001036915] Chr1:40097137 [GRCh38]
Chr1:40562809 [GRCh37]
Chr1:1p34.2
pathogenic
NM_000310.4(PPT1):c.69_125-76del deletion Neuronal ceroid lipofuscinosis 1 [RCV000824956] Chr1:40092583..40097170 [GRCh38]
Chr1:40558255..40562842 [GRCh37]
Chr1:1p34.2
pathogenic
NM_001142604.2(PPT1):c.125-2974T>G single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000785936] Chr1:40092486 [GRCh38]
Chr1:40558158 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.125-166A>T single nucleotide variant not provided [RCV000826815] Chr1:40092673 [GRCh38]
Chr1:40558345 [GRCh37]
Chr1:1p34.2
benign
NM_000310.4(PPT1):c.840A>G (p.Leu280=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001498424]|not provided [RCV000924905] Chr1:40074142 [GRCh38]
Chr1:40539814 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.537-16_537-10dup duplication not provided [RCV000908114] Chr1:40080494..40080495 [GRCh38]
Chr1:40546166..40546167 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.732T>C (p.Phe244=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000862283] Chr1:40076908 [GRCh38]
Chr1:40542580 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.3(PPT1):c.629_630dup (p.Ile211fs) duplication Neuronal ceroid lipofuscinosis 1 [RCV000820723] Chr1:40078655..40078656 [GRCh38]
Chr1:40544327..40544328 [GRCh37]
Chr1:1p34.2
pathogenic
NM_000310.3(PPT1):c.627+8C>T single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001472549]|not provided [RCV000827640] Chr1:40080389 [GRCh38]
Chr1:40546061 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.3(PPT1):c.363G>T (p.Leu121=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000793313] Chr1:40091399 [GRCh38]
Chr1:40557071 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.856G>A (p.Glu286Lys) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000817558] Chr1:40074126 [GRCh38]
Chr1:40539798 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.177G>A (p.Glu59=) single nucleotide variant not provided [RCV000841718] Chr1:40092455 [GRCh38]
Chr1:40558127 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.3(PPT1):c.124+325T>C single nucleotide variant not provided [RCV000832118] Chr1:40096790 [GRCh38]
Chr1:40562462 [GRCh37]
Chr1:1p34.2
likely benign
NM_001142604.2(PPT1):c.125-2560_125-2559del deletion Neuronal ceroid lipofuscinosis 1 [RCV000805058] Chr1:40092071..40092072 [GRCh38]
Chr1:40557743..40557744 [GRCh37]
Chr1:1p34.2
pathogenic
NM_000310.4(PPT1):c.471del (p.His158fs) deletion Neuronal ceroid lipofuscinosis 1 [RCV000824897] Chr1:40089475 [GRCh38]
Chr1:40555147 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.3(PPT1):c.434-137G>A single nucleotide variant not provided [RCV000826819] Chr1:40089649 [GRCh38]
Chr1:40555321 [GRCh37]
Chr1:1p34.2
benign
NM_000310.3(PPT1):c.125-332T>C single nucleotide variant not provided [RCV000844186] Chr1:40092839 [GRCh38]
Chr1:40558511 [GRCh37]
Chr1:1p34.2
benign
NM_000310.3(PPT1):c.125-281_125-280insTTTCACATGCT insertion not provided [RCV000844191] Chr1:40092787..40092788 [GRCh38]
Chr1:40558459..40558460 [GRCh37]
Chr1:1p34.2
benign
NM_000310.3(PPT1):c.639G>A (p.Glu213=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001462085]|not provided [RCV000840918] Chr1:40078647 [GRCh38]
Chr1:40544319 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.6del (p.Ser3fs) deletion Neuronal ceroid lipofuscinosis 1 [RCV000823029] Chr1:40097233 [GRCh38]
Chr1:40562905 [GRCh37]
Chr1:1p34.2
pathogenic
NM_000310.3(PPT1):c.433+5C>A single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000797652] Chr1:40091324 [GRCh38]
Chr1:40556996 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.125-188_125-185del deletion not provided [RCV000826817] Chr1:40092692..40092695 [GRCh38]
Chr1:40558364..40558367 [GRCh37]
Chr1:1p34.2
benign
NM_000310.3(PPT1):c.362+61C>T single nucleotide variant not provided [RCV000829894] Chr1:40091984 [GRCh38]
Chr1:40557656 [GRCh37]
Chr1:1p34.2
benign
NM_000310.3(PPT1):c.27C>G (p.Leu9=) single nucleotide variant not provided [RCV000840965] Chr1:40097212 [GRCh38]
Chr1:40562884 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.124+280GCA[3] microsatellite not provided [RCV000844182] Chr1:40096829..40096830 [GRCh38]
Chr1:40562501..40562502 [GRCh37]
Chr1:1p34.2
benign
NM_000310.4(PPT1):c.*470T>C single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001096719] Chr1:40073591 [GRCh38]
Chr1:40539263 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.3(PPT1):c.433+59T>A single nucleotide variant not provided [RCV000829948] Chr1:40091270 [GRCh38]
Chr1:40556942 [GRCh37]
Chr1:1p34.2
benign
NM_000310.4(PPT1):c.*991T>C single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001098345] Chr1:40073070 [GRCh38]
Chr1:40538742 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.894T>C (p.Tyr298=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001098458] Chr1:40074088 [GRCh38]
Chr1:40539760 [GRCh37]
Chr1:1p34.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000310.3(PPT1):c.434-215G>A single nucleotide variant not provided [RCV000826818] Chr1:40089727 [GRCh38]
Chr1:40555399 [GRCh37]
Chr1:1p34.2
benign
NM_000310.3(PPT1):c.239T>G (p.Val80Gly) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000808916] Chr1:40092168 [GRCh38]
Chr1:40557840 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.*914A>G single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001098346] Chr1:40073147 [GRCh38]
Chr1:40538819 [GRCh37]
Chr1:1p34.2
uncertain significance
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_000310.3(PPT1):c.434-90G>C single nucleotide variant not provided [RCV000832472] Chr1:40089602 [GRCh38]
Chr1:40555274 [GRCh37]
Chr1:1p34.2
benign
NM_000310.3(PPT1):c.799-330C>A single nucleotide variant not provided [RCV000830252] Chr1:40074513 [GRCh38]
Chr1:40540185 [GRCh37]
Chr1:1p34.2
benign
NC_000001.11:g.40097439C>T single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001096804] Chr1:40097439 [GRCh38]
Chr1:40563111 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.*727A>C single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001100132] Chr1:40073334 [GRCh38]
Chr1:40539006 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.*353C>T single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001096720] Chr1:40073708 [GRCh38]
Chr1:40539380 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.*1061C>T single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001098344] Chr1:40073000 [GRCh38]
Chr1:40538672 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.124G>A (p.Gly42Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001224635] Chr1:40097115 [GRCh38]
Chr1:40562787 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.727-1G>A single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001220801] Chr1:40076914 [GRCh38]
Chr1:40542586 [GRCh37]
Chr1:1p34.2
pathogenic
NM_000310.4(PPT1):c.520A>G (p.Lys174Glu) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001210631] Chr1:40089426 [GRCh38]
Chr1:40555098 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.634A>T (p.Asn212Tyr) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001247163] Chr1:40078652 [GRCh38]
Chr1:40544324 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.40C>G (p.Leu14Val) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001219347] Chr1:40097199 [GRCh38]
Chr1:40562871 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.750C>A (p.Gly250=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000932428] Chr1:40076890 [GRCh38]
Chr1:40542562 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.234+10T>A single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001492697]|not provided [RCV000941392] Chr1:40092388 [GRCh38]
Chr1:40558060 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.256T>C (p.Leu86=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001433260]|not provided [RCV000941643] Chr1:40092151 [GRCh38]
Chr1:40557823 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.537-16dup duplication Neuronal ceroid lipofuscinosis 1 [RCV000926716] Chr1:40080494..40080495 [GRCh38]
Chr1:40546166..40546167 [GRCh37]
Chr1:1p34.2
benign
NM_000310.4(PPT1):c.723G>A (p.Ser241=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV000981846] Chr1:40078563 [GRCh38]
Chr1:40544235 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.289_290del (p.Gln97fs) deletion Neuronal ceroid lipofuscinosis 1 [RCV001061953] Chr1:40092117..40092118 [GRCh38]
Chr1:40557789..40557790 [GRCh37]
Chr1:1p34.2
pathogenic
NM_000310.4(PPT1):c.150C>T (p.Ser50=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001227064] Chr1:40092482 [GRCh38]
Chr1:40558154 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.-10C>T single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001102210] Chr1:40097248 [GRCh38]
Chr1:40562920 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.733G>C (p.Gly245Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001239791] Chr1:40076907 [GRCh38]
Chr1:40542579 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.518C>T (p.Ser173Phe) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001227450] Chr1:40089428 [GRCh38]
Chr1:40555100 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.878C>T (p.Ser293Phe) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001227499] Chr1:40074104 [GRCh38]
Chr1:40539776 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.*901C>T single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001100131] Chr1:40073160 [GRCh38]
Chr1:40538832 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.218G>C (p.Gly73Ala) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001224764] Chr1:40092414 [GRCh38]
Chr1:40558086 [GRCh37]
Chr1:1p34.2
likely pathogenic
NC_000001.11:g.(?_40089400)_(40097248_?)del deletion Neuronal ceroid lipofuscinosis 1 [RCV001032387] Chr1:40555072..40562920 [GRCh37]
Chr1:1p34.2
pathogenic
NM_000310.4(PPT1):c.452G>A (p.Arg151Gln) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001227949] Chr1:40089494 [GRCh38]
Chr1:40555166 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.690C>T (p.Phe230=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001100229] Chr1:40078596 [GRCh38]
Chr1:40544268 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.749G>A (p.Gly250Asp) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001068242] Chr1:40076891 [GRCh38]
Chr1:40542563 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.*701G>A single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001102130] Chr1:40073360 [GRCh38]
Chr1:40539032 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.908C>T (p.Pro303Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001037179] Chr1:40074074 [GRCh38]
Chr1:40539746 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.84C>G (p.Asp28Glu) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001052232] Chr1:40097155 [GRCh38]
Chr1:40562827 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.832G>A (p.Gly278Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001248619] Chr1:40074150 [GRCh38]
Chr1:40539822 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.*127A>T single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001098456] Chr1:40073934 [GRCh38]
Chr1:40539606 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.416T>C (p.Val139Ala) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001100230] Chr1:40091346 [GRCh38]
Chr1:40557018 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.583T>G (p.Tyr195Asp) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001219627] Chr1:40080441 [GRCh38]
Chr1:40546113 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.238G>A (p.Val80Met) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001210792] Chr1:40092169 [GRCh38]
Chr1:40557841 [GRCh37]
Chr1:1p34.2
uncertain significance
NC_000001.11:g.40074183del deletion Neuronal ceroid lipofuscinosis 1 [RCV001070351] Chr1:40074183 [GRCh38]
Chr1:40539855 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.4(PPT1):c.733G>A (p.Gly245Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001255711] Chr1:40076907 [GRCh38]
Chr1:40542579 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.4(PPT1):c.17G>C (p.Cys6Ser) single nucleotide variant Seizures [RCV001256066] Chr1:40097222 [GRCh38]
Chr1:40562894 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.118G>A (p.Gly40Arg) single nucleotide variant Inborn genetic diseases [RCV001266645] Chr1:40097121 [GRCh38]
Chr1:40562793 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.65G>C (p.Arg22Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001303933] Chr1:40097174 [GRCh38]
Chr1:40562846 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.346del (p.Gln116fs) deletion not provided [RCV001268473] Chr1:40092061 [GRCh38]
Chr1:40557733 [GRCh37]
Chr1:1p34.2
pathogenic
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1
uncertain significance
NM_000310.4(PPT1):c.404A>G (p.Asn135Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001327024] Chr1:40091358 [GRCh38]
Chr1:40557030 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.98T>A (p.Leu33Gln) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001361498] Chr1:40097141 [GRCh38]
Chr1:40562813 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.480T>C (p.Cys160=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001422131] Chr1:40089466 [GRCh38]
Chr1:40555138 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.726+3G>T single nucleotide variant not provided [RCV001356151] Chr1:40078557 [GRCh38]
Chr1:40544229 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.334A>G (p.Met112Val) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001371026] Chr1:40092073 [GRCh38]
Chr1:40557745 [GRCh37]
Chr1:1p34.2
uncertain significance
NC_000001.10:g.(?_40557947_40561572del deletion Neuronal ceroid lipofuscinosis 1 [RCV001382970]   pathogenic
NM_000310.4(PPT1):c.512C>T (p.Ala171Val) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001294509] Chr1:40089434 [GRCh38]
Chr1:40555106 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.877T>C (p.Ser293Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001280075] Chr1:40074105 [GRCh38]
Chr1:40539777 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.910T>C (p.Phe304Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001308150] Chr1:40074072 [GRCh38]
Chr1:40539744 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.363-5C>G single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001347847] Chr1:40091404 [GRCh38]
Chr1:40557076 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.440T>C (p.Phe147Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001305023] Chr1:40089506 [GRCh38]
Chr1:40555178 [GRCh37]
Chr1:1p34.2
uncertain significance
GRCh37/hg19 1p34.3-34.2(chr1:39340597-40603856)x1 copy number loss not provided [RCV001270633] Chr1:39340597..40603856 [GRCh37]
Chr1:1p34.3-34.2
uncertain significance
NM_000310.4(PPT1):c.695A>G (p.Asn232Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001277582]|not provided [RCV001357275] Chr1:40078591 [GRCh38]
Chr1:40544263 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.727-10T>G single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001277581] Chr1:40076923 [GRCh38]
Chr1:40542595 [GRCh37]
Chr1:1p34.2
benign|likely benign
NC_000001.10:g.(?_40539713)_(40562930_?)dup duplication Neuronal ceroid lipofuscinosis 1 [RCV001307930] Chr1:40539713..40562930 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.822G>A (p.Met274Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001337904] Chr1:40074160 [GRCh38]
Chr1:40539832 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_000310.4(PPT1):c.282A>T (p.Thr94=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001474940] Chr1:40092125 [GRCh38]
Chr1:40557797 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.6G>C (p.Ala2=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001458502] Chr1:40097233 [GRCh38]
Chr1:40562905 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.159T>C (p.Ala53=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001465263] Chr1:40092473 [GRCh38]
Chr1:40558145 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.541G>C (p.Val181Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001385552] Chr1:40080483 [GRCh38]
Chr1:40546155 [GRCh37]
Chr1:1p34.2
pathogenic
NM_000310.4(PPT1):c.628-2A>G single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001378615] Chr1:40078660 [GRCh38]
Chr1:40544332 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_000310.4(PPT1):c.600C>T (p.Ile200=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001418102] Chr1:40080424 [GRCh38]
Chr1:40546096 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.537-8T>C single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001480584] Chr1:40080495 [GRCh38]
Chr1:40546167 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.712_713del (p.Pro238fs) deletion Neuronal ceroid lipofuscinosis 1 [RCV001381455] Chr1:40078573..40078574 [GRCh38]
Chr1:40544245..40544246 [GRCh37]
Chr1:1p34.2
pathogenic
NM_000310.4(PPT1):c.258G>A (p.Leu86=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001503559] Chr1:40092149 [GRCh38]
Chr1:40557821 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.213G>A (p.Glu71=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001489360] Chr1:40092419 [GRCh38]
Chr1:40558091 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.378G>A (p.Gln126=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001501244] Chr1:40091384 [GRCh38]
Chr1:40557056 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.48A>G (p.Pro16=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001506668] Chr1:40097191 [GRCh38]
Chr1:40562863 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.678G>A (p.Val226=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001409370] Chr1:40078608 [GRCh38]
Chr1:40544280 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.51G>A (p.Trp17Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001387455] Chr1:40097188 [GRCh38]
Chr1:40562860 [GRCh37]
Chr1:1p34.2
pathogenic
NM_000310.4(PPT1):c.536+7A>G single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001402636] Chr1:40089403 [GRCh38]
Chr1:40555075 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.264C>T (p.Val88=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001444278] Chr1:40092143 [GRCh38]
Chr1:40557815 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.433+9G>C single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001417208] Chr1:40091320 [GRCh38]
Chr1:40556992 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.897C>A (p.Ala299=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001446701] Chr1:40074085 [GRCh38]
Chr1:40539757 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.614_620del (p.Ile205fs) deletion Neuronal ceroid lipofuscinosis 1 [RCV001383679] Chr1:40080404..40080410 [GRCh38]
Chr1:40546076..40546082 [GRCh37]
Chr1:1p34.2
pathogenic
NM_000310.4(PPT1):c.15C>T (p.Gly5=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001405113] Chr1:40097224 [GRCh38]
Chr1:40562896 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.369A>G (p.Ala123=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001405433] Chr1:40091393 [GRCh38]
Chr1:40557065 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.343_344dup (p.Gln116fs) microsatellite Neuronal ceroid lipofuscinosis 1 [RCV001390473] Chr1:40092062..40092063 [GRCh38]
Chr1:40557734..40557735 [GRCh37]
Chr1:1p34.2
pathogenic
NM_000310.4(PPT1):c.384C>T (p.Cys128=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001440178] Chr1:40091378 [GRCh38]
Chr1:40557050 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.744A>G (p.Arg248=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001445021] Chr1:40076896 [GRCh38]
Chr1:40542568 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.843G>A (p.Val281=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001445042] Chr1:40074139 [GRCh38]
Chr1:40539811 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.693C>T (p.Leu231=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001447739] Chr1:40078593 [GRCh38]
Chr1:40544265 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.696T>C (p.Asn232=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001435121] Chr1:40078590 [GRCh38]
Chr1:40544262 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.99G>A (p.Leu33=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001432225] Chr1:40097140 [GRCh38]
Chr1:40562812 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.263del (p.Val88fs) deletion Neuronal ceroid lipofuscinosis 1 [RCV001385927] Chr1:40092144 [GRCh38]
Chr1:40557816 [GRCh37]
Chr1:1p34.2
pathogenic
NM_000310.4(PPT1):c.537-9T>C single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001496060] Chr1:40080496 [GRCh38]
Chr1:40546168 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.235-6T>C single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001451189] Chr1:40092178 [GRCh38]
Chr1:40557850 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.489C>A (p.Ile163=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001463254] Chr1:40089457 [GRCh38]
Chr1:40555129 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.549C>T (p.Ala183=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001465462] Chr1:40080475 [GRCh38]
Chr1:40546147 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.537-8del deletion Neuronal ceroid lipofuscinosis 1 [RCV001516857] Chr1:40080495 [GRCh38]
Chr1:40546167 [GRCh37]
Chr1:1p34.2
benign
NM_000310.4(PPT1):c.628-9_628-8delinsGC indel Neuronal ceroid lipofuscinosis 1 [RCV001502499] Chr1:40078666..40078667 [GRCh38]
Chr1:40544338..40544339 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.362+10T>A single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001505161] Chr1:40092035 [GRCh38]
Chr1:40557707 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.362+8C>T single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001476295] Chr1:40092037 [GRCh38]
Chr1:40557709 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.771C>A (p.Pro257=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001460671] Chr1:40076869 [GRCh38]
Chr1:40542541 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.234+7C>A single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001453600] Chr1:40092391 [GRCh38]
Chr1:40558063 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.83A>G (p.Asp28Gly) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001517503] Chr1:40097156 [GRCh38]
Chr1:40562828 [GRCh37]
Chr1:1p34.2
benign
NM_000310.4(PPT1):c.147A>G (p.Leu49=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001416162] Chr1:40092485 [GRCh38]
Chr1:40558157 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.555C>T (p.Tyr185=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001415993] Chr1:40080469 [GRCh38]
Chr1:40546141 [GRCh37]
Chr1:1p34.2
likely benign
NM_000310.4(PPT1):c.393T>C (p.Pro131=) single nucleotide variant Neuronal ceroid lipofuscinosis 1 [RCV001485355] Chr1:40091369 [GRCh38]
Chr1:40557041 [GRCh37]
Chr1:1p34.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9325 AgrOrtholog
COSMIC PPT1 COSMIC
Ensembl Genes ENSG00000131238 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000361865 UniProtKB/TrEMBL
  ENSP00000392293 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000394863 UniProtKB/TrEMBL
  ENSP00000403207 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000431655 UniProtKB/TrEMBL
  ENSP00000432053 UniProtKB/Swiss-Prot
  ENSP00000434007 UniProtKB/TrEMBL
  ENSP00000436481 UniProtKB/TrEMBL
  ENSP00000436695 UniProtKB/TrEMBL
  ENSP00000492910 UniProtKB/TrEMBL
  ENSP00000492984 UniProtKB/TrEMBL
  ENSP00000493063 UniProtKB/TrEMBL
  ENSP00000493128 UniProtKB/TrEMBL
  ENSP00000493146 UniProtKB/TrEMBL
  ENSP00000493153 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000493359 UniProtKB/TrEMBL
  ENSP00000493369 UniProtKB/TrEMBL
Ensembl Transcript ENST00000372779 UniProtKB/TrEMBL
  ENST00000433473 UniProtKB/TrEMBL
  ENST00000439754 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000449045 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000526547 UniProtKB/TrEMBL
  ENST00000527311 UniProtKB/TrEMBL
  ENST00000529905 UniProtKB/Swiss-Prot
  ENST00000530076 UniProtKB/TrEMBL
  ENST00000530704 UniProtKB/TrEMBL
  ENST00000641083 UniProtKB/TrEMBL
  ENST00000641319 UniProtKB/TrEMBL
  ENST00000641381 UniProtKB/TrEMBL
  ENST00000641471 UniProtKB/TrEMBL
  ENST00000641548 UniProtKB/TrEMBL
  ENST00000641691 UniProtKB/TrEMBL
  ENST00000641924 UniProtKB/TrEMBL
  ENST00000642050 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.1820 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000131238 GTEx
HGNC ID HGNC:9325 ENTREZGENE
Human Proteome Map PPT1 Human Proteome Map
InterPro AB_hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Palm_thioest UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPT1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5538 UniProtKB/Swiss-Prot
NCBI Gene 5538 ENTREZGENE
OMIM 256730 OMIM
  600722 OMIM
PANTHER PTHR11247:SF8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33688 PharmGKB
PRINTS PPTHIESTRASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53474 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A286YEP3_HUMAN UniProtKB/TrEMBL
  A0A286YF39_HUMAN UniProtKB/TrEMBL
  A0A286YFE3_HUMAN UniProtKB/TrEMBL
  A0A286YFF7_HUMAN UniProtKB/TrEMBL
  A0A286YFL6_HUMAN UniProtKB/TrEMBL
  A0A286YFL8_HUMAN UniProtKB/TrEMBL
  A0A2C9F2P4_HUMAN UniProtKB/TrEMBL
  E9PIA8_HUMAN UniProtKB/TrEMBL
  E9PK48_HUMAN UniProtKB/TrEMBL
  E9PMG2_HUMAN UniProtKB/TrEMBL
  E9PP28_HUMAN UniProtKB/TrEMBL
  E9PSE5_HUMAN UniProtKB/TrEMBL
  P50897 ENTREZGENE, UniProtKB/Swiss-Prot
  Q5T0S4_HUMAN UniProtKB/TrEMBL
UniProt Secondary B4DY24 UniProtKB/Swiss-Prot
  Q6FGQ4 UniProtKB/Swiss-Prot