PCCA (propionyl-CoA carboxylase subunit alpha) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: PCCA (propionyl-CoA carboxylase subunit alpha) Homo sapiens
Analyze
Symbol: PCCA
Name: propionyl-CoA carboxylase subunit alpha
RGD ID: 736733
HGNC Page HGNC
Description: Exhibits enzyme binding activity and propionyl-CoA carboxylase activity. Predicted to be involved in biotin metabolic process and short-chain fatty acid catabolic process. Localizes to mitochondrial matrix. Implicated in amino acid metabolic disorder and propionic acidemia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: pccA complementation group; PCCase alpha subunit; propanoyl-CoA:carbon dioxide ligase alpha subunit; propionyl CoA carboxylase, alpha polypeptide; propionyl Coenzyme A carboxylase, alpha polypeptide; propionyl-CoA carboxylase alpha chain, mitochondrial; propionyl-CoA carboxylase alpha subunit
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 Ensembl13100,089,015 - 100,530,437 (+)EnsemblGRCh38hg38GRCh38
GRCh3813100,089,020 - 100,530,435 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3713100,741,347 - 101,182,689 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361399,539,338 - 99,980,690 (+)NCBINCBI36hg18NCBI36
Build 341399,539,402 - 99,980,687NCBI
Celera1381,585,804 - 82,027,260 (+)NCBI
Cytogenetic Map13q32.3NCBI
HuRef1381,336,606 - 81,778,760 (+)NCBIHuRef
CHM1_113100,711,146 - 101,152,990 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process

Cellular Component
cytosol  (TAS)
mitochondrial matrix  (IDA,TAS)
mitochondrion  (IBA,IDA,ISO)

Molecular Function

References

Additional References at PubMed
PMID:1427880   PMID:2740237   PMID:3460076   PMID:3555348   PMID:3687944   PMID:6765947   PMID:7656816   PMID:8125298   PMID:8188292   PMID:8434582   PMID:8889548   PMID:8895530  
PMID:10101253   PMID:10329019   PMID:10502773   PMID:11136555   PMID:11592820   PMID:11749052   PMID:11991713   PMID:12226704   PMID:12385775   PMID:12477932   PMID:12559849   PMID:14702039  
PMID:15059621   PMID:15489334   PMID:15890657   PMID:16023992   PMID:16344560   PMID:16751776   PMID:17051315   PMID:17966092   PMID:18457437   PMID:18678647   PMID:19157941   PMID:19157943  
PMID:19296078   PMID:19913121   PMID:20351267   PMID:20379614   PMID:20628086   PMID:20725044   PMID:20877624   PMID:21461837   PMID:21532586   PMID:21642987   PMID:21873635   PMID:22156789  
PMID:22593918   PMID:23396134   PMID:24244333   PMID:24464666   PMID:24755837   PMID:24863100   PMID:25147182   PMID:25315684   PMID:25636094   PMID:26186194   PMID:26344197   PMID:26496610  
PMID:26760575   PMID:27182664   PMID:27227689   PMID:27468871   PMID:28514442   PMID:28611215   PMID:28718761   PMID:29053956   PMID:29540532   PMID:30274917   PMID:30349055   PMID:30463901  
PMID:30575818   PMID:30804502   PMID:30997501   PMID:31152661   PMID:31452512   PMID:31753913   PMID:31995728   PMID:32296183   PMID:32529326  


Genomics

Comparative Map Data
PCCA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl13100,089,015 - 100,530,437 (+)EnsemblGRCh38hg38GRCh38
GRCh3813100,089,020 - 100,530,435 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3713100,741,347 - 101,182,689 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361399,539,338 - 99,980,690 (+)NCBINCBI36hg18NCBI36
Build 341399,539,402 - 99,980,687NCBI
Celera1381,585,804 - 82,027,260 (+)NCBI
Cytogenetic Map13q32.3NCBI
HuRef1381,336,606 - 81,778,760 (+)NCBIHuRef
CHM1_113100,711,146 - 101,152,990 (+)NCBICHM1_1
Pcca
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3914122,721,752 - 123,127,356 (+)NCBIGRCm39mm39
GRCm39 Ensembl14122,771,736 - 123,128,512 (+)Ensembl
GRCm3814122,484,365 - 122,889,944 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl14122,534,324 - 122,891,100 (+)EnsemblGRCm38mm10GRCm38
MGSCv3714122,933,550 - 123,289,166 (+)NCBIGRCm37mm9NCBIm37
MGSCv3614121,669,524 - 122,025,008 (+)NCBImm8
Celera14121,094,262 - 121,448,288 (+)NCBICelera
Cytogenetic Map14E5NCBI
cM Map1465.99NCBI
Pcca
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21599,627,955 - 99,969,555 (+)NCBI
Rnor_6.0 Ensembl15108,960,562 - 109,306,603 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.015108,960,509 - 109,306,879 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.015112,502,385 - 112,687,789 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.015112,346,155 - 112,477,427 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.415107,659,723 - 108,028,929 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.115107,675,589 - 108,044,696 (+)NCBI
Celera1598,401,724 - 98,738,731 (+)NCBICelera
RH 3.4 Map15692.11RGD
Cytogenetic Map15q25NCBI
Pcca
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540410,317,640 - 10,661,496 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540410,317,640 - 10,719,148 (-)NCBIChiLan1.0ChiLan1.0
PCCA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.113100,390,959 - 100,837,772 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl13100,390,959 - 100,837,772 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01381,259,313 - 81,699,117 (+)NCBIMhudiblu_PPA_v0panPan3
PCCA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12249,965,134 - 50,428,025 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2250,023,369 - 50,428,027 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2249,745,683 - 50,208,149 (+)NCBI
ROS_Cfam_1.02250,406,847 - 50,870,032 (+)NCBI
UMICH_Zoey_3.12250,114,652 - 50,516,893 (+)NCBI
UNSW_CanFamBas_1.02250,090,509 - 50,553,146 (+)NCBI
UU_Cfam_GSD_1.02250,127,751 - 50,590,508 (+)NCBI
Pcca
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945185,393,912 - 185,784,766 (+)NCBI
SpeTri2.0NW_00493647210,167,387 - 10,501,824 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PCCA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1168,920,929 - 69,301,533 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11168,920,923 - 69,286,431 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21176,363,099 - 76,547,559 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PCCA
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1378,722,186 - 79,156,049 (+)NCBI
ChlSab1.1 Ensembl378,722,286 - 79,156,863 (+)Ensembl
Pcca
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462479310,691,224 - 11,099,905 (-)NCBI

Position Markers
D13S1267  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713100,897,155 - 100,897,366UniSTSGRCh37
Build 361399,695,156 - 99,695,367RGDNCBI36
Celera1381,741,711 - 81,741,918RGD
Cytogenetic Map13q32UniSTS
HuRef1381,492,402 - 81,492,609UniSTS
Marshfield Genetic Map1381.64RGD
Marshfield Genetic Map1381.64UniSTS
Genethon Genetic Map1383.6UniSTS
TNG Radiation Hybrid Map1336918.0UniSTS
GeneMap99-GB4 RH Map13282.82UniSTS
NCBI RH Map13900.1UniSTS
G29194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713100,948,972 - 100,949,120UniSTSGRCh37
Build 361399,746,973 - 99,747,121RGDNCBI36
Celera1381,793,530 - 81,793,678RGD
Cytogenetic Map13q32UniSTS
HuRef1381,544,209 - 81,544,357UniSTS
RH119407  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713100,990,767 - 100,990,917UniSTSGRCh37
Build 361399,788,768 - 99,788,918RGDNCBI36
Celera1381,835,326 - 81,835,476RGD
Cytogenetic Map13q32UniSTS
HuRef1381,585,910 - 81,586,060UniSTS
TNG Radiation Hybrid Map1336970.0UniSTS
SHGC-144820  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713100,950,366 - 100,950,648UniSTSGRCh37
Build 361399,748,367 - 99,748,649RGDNCBI36
Celera1381,794,924 - 81,795,206RGD
Cytogenetic Map13q32UniSTS
HuRef1381,545,603 - 81,545,885UniSTS
TNG Radiation Hybrid Map1336941.0UniSTS
G17705  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713101,035,999 - 101,036,191UniSTSGRCh37
Build 361399,834,000 - 99,834,192RGDNCBI36
Celera1381,880,556 - 81,880,748RGD
Cytogenetic Map13q32UniSTS
HuRef1381,631,131 - 81,631,323UniSTS
SHGC-12499  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713101,182,424 - 101,182,685UniSTSGRCh37
Build 361399,980,425 - 99,980,686RGDNCBI36
Celera1382,026,993 - 82,027,254RGD
Cytogenetic Map13q32UniSTS
Cytogenetic Map13q32.3UniSTS
HuRef1381,778,493 - 81,778,754UniSTS
Marshfield Genetic Map1381.64UniSTS
GeneMap99-GB4 RH Map13282.82UniSTS
Whitehead-RH Map13273.8UniSTS
Whitehead-YAC Contig Map13 UniSTS
GeneMap99-G3 RH Map133167.0UniSTS
D13S1567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713101,129,630 - 101,129,845UniSTSGRCh37
Build 361399,927,631 - 99,927,846RGDNCBI36
Celera1381,974,165 - 81,974,380RGD
HuRef1381,725,658 - 81,725,873UniSTS
SGC38322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713101,143,401 - 101,143,700UniSTSGRCh37
Build 361399,941,402 - 99,941,701RGDNCBI36
Celera1381,987,936 - 81,988,235RGD
Cytogenetic Map13q32UniSTS
HuRef1381,739,430 - 81,739,729UniSTS
GeneMap99-GB4 RH Map13282.92UniSTS
Whitehead-RH Map13272.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1086
Count of miRNA genes:506
Interacting mature miRNAs:561
Transcripts:ENST00000376279, ENST00000376285, ENST00000376286, ENST00000413170, ENST00000424527, ENST00000428969, ENST00000443601, ENST00000458283, ENST00000485946
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1496 719 1113 454 149 343 1507 650 655 349 670 686 118 1 779 702 3 2
Low 941 2066 613 170 1600 122 2849 1517 3079 70 790 926 57 425 2086 3
Below cutoff 1 206 183 30

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001749567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001749568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001749569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001749574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001749576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001749577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_931615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF339804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF385926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL122056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB851764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA781564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB872329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB873589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB875460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB879970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB888705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB921514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC929738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC930998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC932869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC937379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC946114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC978923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M26121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S55656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S79219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X14608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z36837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000376279   ⟹   ENSP00000365456
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13100,089,015 - 100,530,432 (+)Ensembl
RefSeq Acc Id: ENST00000376285   ⟹   ENSP00000365462
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13100,089,093 - 100,530,435 (+)Ensembl
RefSeq Acc Id: ENST00000376286   ⟹   ENSP00000365463
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13100,089,015 - 100,530,432 (+)Ensembl
RefSeq Acc Id: ENST00000413170   ⟹   ENSP00000411194
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13100,368,499 - 100,491,817 (+)Ensembl
RefSeq Acc Id: ENST00000424527   ⟹   ENSP00000396050
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13100,293,224 - 100,425,731 (+)Ensembl
RefSeq Acc Id: ENST00000428969   ⟹   ENSP00000399413
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13100,515,427 - 100,530,432 (+)Ensembl
RefSeq Acc Id: ENST00000443601   ⟹   ENSP00000400740
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13100,305,776 - 100,340,259 (+)Ensembl
RefSeq Acc Id: ENST00000458283   ⟹   ENSP00000390850
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13100,368,472 - 100,530,432 (+)Ensembl
RefSeq Acc Id: ENST00000485946
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13100,149,201 - 100,161,625 (+)Ensembl
RefSeq Acc Id: ENST00000621936
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13100,489,968 - 100,491,817 (+)Ensembl
RefSeq Acc Id: ENST00000636366   ⟹   ENSP00000490939
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13100,102,899 - 100,530,435 (+)Ensembl
RefSeq Acc Id: ENST00000636420   ⟹   ENSP00000490290
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13100,102,899 - 100,330,672 (+)Ensembl
RefSeq Acc Id: ENST00000636475   ⟹   ENSP00000490843
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13100,102,899 - 100,530,435 (+)Ensembl
RefSeq Acc Id: ENST00000637358   ⟹   ENSP00000489804
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13100,102,899 - 100,237,497 (+)Ensembl
RefSeq Acc Id: ENST00000637657   ⟹   ENSP00000489974
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13100,102,899 - 100,530,437 (+)Ensembl
RefSeq Acc Id: ENST00000647303   ⟹   ENSP00000495663
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13100,089,100 - 100,530,421 (+)Ensembl
RefSeq Acc Id: NM_000282   ⟹   NP_000273
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,093 - 100,530,435 (+)NCBI
GRCh3713100,741,269 - 101,182,691 (+)NCBI
Build 361399,539,338 - 99,980,690 (+)NCBI Archive
HuRef1381,336,606 - 81,778,760 (+)ENTREZGENE
CHM1_113100,711,146 - 101,152,990 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001127692   ⟹   NP_001121164
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,093 - 100,530,435 (+)NCBI
GRCh3713100,741,269 - 101,182,691 (+)ENTREZGENE
HuRef1381,336,606 - 81,778,760 (+)ENTREZGENE
CHM1_113100,711,146 - 101,152,990 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001178004   ⟹   NP_001171475
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,093 - 100,530,435 (+)NCBI
GRCh3713100,741,269 - 101,182,691 (+)ENTREZGENE
HuRef1381,336,606 - 81,778,760 (+)ENTREZGENE
CHM1_113100,711,146 - 101,152,990 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001352605   ⟹   NP_001339534
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,093 - 100,530,435 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001352606   ⟹   NP_001339535
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,093 - 100,530,435 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001352607   ⟹   NP_001339536
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,093 - 100,530,435 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001352608   ⟹   NP_001339537
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,093 - 100,530,435 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001352609   ⟹   NP_001339538
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,093 - 100,491,818 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001352610   ⟹   NP_001339539
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,093 - 100,530,435 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001352611   ⟹   NP_001339540
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,093 - 100,530,435 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001352612   ⟹   NP_001339541
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,093 - 100,530,435 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148027
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,093 - 100,530,435 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148028
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,093 - 100,530,435 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148029
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,093 - 100,530,435 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148030
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,093 - 100,530,435 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148031
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,093 - 100,530,435 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521093   ⟹   XP_011519395
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,020 - 100,491,817 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020605   ⟹   XP_016876094
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,020 - 100,491,506 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020606   ⟹   XP_016876095
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,091 - 100,491,506 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020607   ⟹   XP_016876096
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,090,244 - 100,491,506 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020609   ⟹   XP_016876098
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,090,147 - 100,530,435 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020611   ⟹   XP_016876100
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,020 - 100,491,817 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020612   ⟹   XP_016876101
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,020 - 100,519,036 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020613   ⟹   XP_016876102
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,020 - 100,530,435 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020615   ⟹   XP_016876104
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,020 - 100,387,071 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020616   ⟹   XP_016876105
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,020 - 100,341,950 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001749567
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,020 - 100,530,435 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001749568
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,020 - 100,530,435 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001749569
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,020 - 100,530,435 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001749574
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,091 - 100,527,739 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001749576
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,020 - 100,530,435 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001749577
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,020 - 100,530,435 (+)NCBI
Sequence:
RefSeq Acc Id: XR_931615
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,020 - 100,530,435 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000273 (Get FASTA)   NCBI Sequence Viewer  
  NP_001121164 (Get FASTA)   NCBI Sequence Viewer  
  NP_001171475 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339534 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339535 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339536 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339537 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339538 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339539 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339540 (Get FASTA)   NCBI Sequence Viewer  
  NP_001339541 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519395 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876094 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876095 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876096 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876098 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876100 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876101 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876102 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876104 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876105 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36424 (Get FASTA)   NCBI Sequence Viewer  
  AAA60035 (Get FASTA)   NCBI Sequence Viewer  
  AAB25345 (Get FASTA)   NCBI Sequence Viewer  
  AAB35181 (Get FASTA)   NCBI Sequence Viewer  
  AAH00140 (Get FASTA)   NCBI Sequence Viewer  
  AAK61392 (Get FASTA)   NCBI Sequence Viewer  
  AAL66189 (Get FASTA)   NCBI Sequence Viewer  
  BAG37887 (Get FASTA)   NCBI Sequence Viewer  
  BAG59350 (Get FASTA)   NCBI Sequence Viewer  
  BAG60571 (Get FASTA)   NCBI Sequence Viewer  
  CAA32763 (Get FASTA)   NCBI Sequence Viewer  
  CBF60221 (Get FASTA)   NCBI Sequence Viewer  
  CBF61046 (Get FASTA)   NCBI Sequence Viewer  
  CBF62102 (Get FASTA)   NCBI Sequence Viewer  
  CBF64283 (Get FASTA)   NCBI Sequence Viewer  
  CBF68497 (Get FASTA)   NCBI Sequence Viewer  
  CBF95747 (Get FASTA)   NCBI Sequence Viewer  
  CBU85465 (Get FASTA)   NCBI Sequence Viewer  
  CBU86074 (Get FASTA)   NCBI Sequence Viewer  
  CBU86978 (Get FASTA)   NCBI Sequence Viewer  
  CBU89159 (Get FASTA)   NCBI Sequence Viewer  
  CBU93371 (Get FASTA)   NCBI Sequence Viewer  
  CBV09267 (Get FASTA)   NCBI Sequence Viewer  
  EAX09032 (Get FASTA)   NCBI Sequence Viewer  
  EAX09033 (Get FASTA)   NCBI Sequence Viewer  
  EAX09034 (Get FASTA)   NCBI Sequence Viewer  
  P05165 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000273   ⟸   NM_000282
- Peptide Label: isoform a precursor
- UniProtKB: P05165 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001171475   ⟸   NM_001178004
- Peptide Label: isoform c precursor
- UniProtKB: P05165 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001121164   ⟸   NM_001127692
- Peptide Label: isoform b
- UniProtKB: P05165 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011519395   ⟸   XM_011521093
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016876102   ⟸   XM_017020613
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016876101   ⟸   XM_017020612
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016876100   ⟸   XM_017020611
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016876094   ⟸   XM_017020605
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016876104   ⟸   XM_017020615
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016876105   ⟸   XM_017020616
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016876095   ⟸   XM_017020606
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016876098   ⟸   XM_017020609
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016876096   ⟸   XM_017020607
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001339534   ⟸   NM_001352605
- Peptide Label: isoform d precursor
- Sequence:
RefSeq Acc Id: NP_001339535   ⟸   NM_001352606
- Peptide Label: isoform e precursor
- Sequence:
RefSeq Acc Id: NP_001339539   ⟸   NM_001352610
- Peptide Label: isoform i
- Sequence:
RefSeq Acc Id: NP_001339540   ⟸   NM_001352611
- Peptide Label: isoform j
- Sequence:
RefSeq Acc Id: NP_001339541   ⟸   NM_001352612
- Peptide Label: isoform k
- Sequence:
RefSeq Acc Id: NP_001339536   ⟸   NM_001352607
- Peptide Label: isoform f
- Sequence:
RefSeq Acc Id: NP_001339537   ⟸   NM_001352608
- Peptide Label: isoform g
- Sequence:
RefSeq Acc Id: NP_001339538   ⟸   NM_001352609
- Peptide Label: isoform h precursor
- Sequence:
RefSeq Acc Id: ENSP00000396050   ⟸   ENST00000424527
RefSeq Acc Id: ENSP00000490290   ⟸   ENST00000636420
RefSeq Acc Id: ENSP00000490843   ⟸   ENST00000636475
RefSeq Acc Id: ENSP00000490939   ⟸   ENST00000636366
RefSeq Acc Id: ENSP00000489804   ⟸   ENST00000637358
RefSeq Acc Id: ENSP00000489974   ⟸   ENST00000637657
RefSeq Acc Id: ENSP00000411194   ⟸   ENST00000413170
RefSeq Acc Id: ENSP00000399413   ⟸   ENST00000428969
RefSeq Acc Id: ENSP00000365456   ⟸   ENST00000376279
RefSeq Acc Id: ENSP00000365462   ⟸   ENST00000376285
RefSeq Acc Id: ENSP00000365463   ⟸   ENST00000376286
RefSeq Acc Id: ENSP00000400740   ⟸   ENST00000443601
RefSeq Acc Id: ENSP00000390850   ⟸   ENST00000458283
RefSeq Acc Id: ENSP00000495663   ⟸   ENST00000647303
Promoters
RGD ID:6790996
Promoter ID:HG_KWN:18417
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000376277,   ENST00000376286,   NM_000282,   NM_001127692,   NM_001178004
Position:
Human AssemblyChrPosition (strand)Source
Build 361399,539,071 - 99,539,571 (+)MPROMDB
RGD ID:6850488
Promoter ID:EP73035
Type:initiation region
Name:HS_PCCA
Description:Propionyl Coenzyme A carboxylase, alpha polypeptide , nuclear geneencoding mitochondrial protein.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361399,539,372 - 99,539,432EPD
RGD ID:6790994
Promoter ID:HG_KWN:18426
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000045633
Position:
Human AssemblyChrPosition (strand)Source
Build 361399,965,004 - 99,965,504 (+)MPROMDB
RGD ID:7226739
Promoter ID:EPDNEW_H19114
Type:multiple initiation site
Name:PCCA_2
Description:propionyl-CoA carboxylase alpha subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19115  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,088,888 - 100,088,948EPDNEW
RGD ID:7226737
Promoter ID:EPDNEW_H19115
Type:initiation region
Name:PCCA_1
Description:propionyl-CoA carboxylase alpha subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19114  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813100,089,117 - 100,089,177EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000282.4(PCCA):c.1896A>G (p.Thr632=) single nucleotide variant Propionic acidemia [RCV000551482] Chr13:100449302 [GRCh38]
Chr13:101101556 [GRCh37]
Chr13:13q32.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
PCCA, 4-BP DEL, 1824IVS, +3 deletion Propionic acidemia [RCV000012800] Chr13:13q32 pathogenic
PCCA, 9-BP DEL, 1771IVS, -2 deletion Propionic acidemia [RCV000012801] Chr13:13q32 pathogenic
PCCA, 2-BP INS, 1824IVS, +3 insertion Propionic acidemia [RCV000012802] Chr13:13q32 pathogenic
PCCA, IVS14, A-G, -1416 single nucleotide variant Propionic acidemia [RCV000012805] Chr13:13q32 pathogenic
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu) single nucleotide variant Propionic acidemia [RCV001086663]|not provided [RCV000525403] Chr13:100515544 [GRCh38]
Chr13:101167798 [GRCh37]
Chr13:13q32.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000282.4(PCCA):c.862A>T (p.Arg288Ter) single nucleotide variant Propionic acidemia [RCV000012803] Chr13:100268731 [GRCh38]
Chr13:100920985 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys) single nucleotide variant Propionic acidemia [RCV000012804] Chr13:100301512 [GRCh38]
Chr13:100953766 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.3(PCCA):c.469-194A>G single nucleotide variant Lung cancer [RCV000097590] Chr13:100209138 [GRCh38]
Chr13:100861392 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.3(PCCA):c.1746+6300G>T single nucleotide variant Lung cancer [RCV000097591] Chr13:100374874 [GRCh38]
Chr13:101027128 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) single nucleotide variant Propionic acidemia [RCV000032108]|not specified [RCV000127322] Chr13:100368479 [GRCh38]
Chr13:101020733 [GRCh37]
Chr13:13q32.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000282.4(PCCA):c.1685C>G (p.Ser562Ter) single nucleotide variant Propionic acidemia [RCV000032109] Chr13:100368513 [GRCh38]
Chr13:101020767 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr) single nucleotide variant Propionic acidemia [RCV000032110] Chr13:100155090 [GRCh38]
Chr13:100807344 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.491T>C (p.Ile164Thr) single nucleotide variant Propionic acidemia [RCV000032111] Chr13:100209354 [GRCh38]
Chr13:100861608 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.862A>G (p.Arg288Gly) single nucleotide variant Propionic acidemia [RCV000032112] Chr13:100268731 [GRCh38]
Chr13:100920985 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) single nucleotide variant Propionic acidemia [RCV000032113]|not provided [RCV000790683] Chr13:100273218 [GRCh38]
Chr13:100925472 [GRCh37]
Chr13:13q32.3
pathogenic
GRCh38/hg38 13q31.1-34(chr13:82581008-114327173)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|See cases [RCV000051380] Chr13:82581008..114327173 [GRCh38]
Chr13:83155143..115085141 [GRCh37]
Chr13:82053144..114110750 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.3-34(chr13:91366227-114327314)x1 copy number loss See cases [RCV000051418] Chr13:91366227..114327314 [GRCh38]
Chr13:92018481..115085141 [GRCh37]
Chr13:90816482..114110891 [NCBI36]
Chr13:13q31.3-34
pathogenic
GRCh38/hg38 13q32.3-33.1(chr13:99034367-101217397)x1 copy number loss See cases [RCV000051420] Chr13:99034367..101217397 [GRCh38]
Chr13:99686621..101869748 [GRCh37]
Chr13:98484622..100667749 [NCBI36]
Chr13:13q32.3-33.1
pathogenic
GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3 copy number gain See cases [RCV000051179] Chr13:82032938..106082542 [GRCh38]
Chr13:82607073..106734891 [GRCh37]
Chr13:81505074..105532892 [NCBI36]
Chr13:13q31.1-33.2
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
NM_000282.4(PCCA):c.775_779del (p.Leu259fs) deletion Propionic acidemia [RCV000173671]|not provided [RCV000724430] Chr13:100262787..100262791 [GRCh38]
Chr13:100915041..100915045 [GRCh37]
Chr13:13q32.3
pathogenic|likely pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34
pathogenic
GRCh38/hg38 13q31.3-33.1(chr13:93213623-101537104)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053790]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053790]|See cases [RCV000053790] Chr13:93213623..101537104 [GRCh38]
Chr13:93865876..102189455 [GRCh37]
Chr13:92663877..100987456 [NCBI36]
Chr13:13q31.3-33.1
pathogenic
GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3 copy number gain See cases [RCV000053792] Chr13:99472316..114293545 [GRCh38]
Chr13:100124570..115059020 [GRCh37]
Chr13:98922571..114077122 [NCBI36]
Chr13:13q32.3-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3 copy number gain See cases [RCV000053795] Chr13:100039860..114327173 [GRCh38]
Chr13:100692114..115085141 [GRCh37]
Chr13:99490115..114110750 [NCBI36]
Chr13:13q32.3-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34
pathogenic
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 copy number gain See cases [RCV000053770] Chr13:74345951..114327314 [GRCh38]
Chr13:74920088..115085141 [GRCh37]
Chr13:73818089..114110891 [NCBI36]
Chr13:13q22.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|See cases [RCV000053772] Chr13:80628584..114327173 [GRCh38]
Chr13:81202719..115085141 [GRCh37]
Chr13:80100720..114110750 [NCBI36]
Chr13:13q31.1-34
pathogenic
NM_000282.4(PCCA):c.1023dup (p.Lys342Ter) duplication Propionic acidemia [RCV001041557]|not provided [RCV000174236] Chr13:100273303..100273304 [GRCh38]
Chr13:100925557..100925558 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) single nucleotide variant Propionic acidemia [RCV000313421]|not specified [RCV000078547] Chr13:100309902 [GRCh38]
Chr13:100962156 [GRCh37]
Chr13:13q32.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000282.3(PCCA):c.184-18_184-17delTG deletion AllHighlyPenetrant [RCV000078548]|not specified [RCV000078548] Chr13:100111823..100111824 [GRCh38]
Chr13:100764077..100764078 [GRCh37]
Chr13:13q32.3
benign
NM_000282.3(PCCA):c.231+42_231+45delTTAT deletion AllHighlyPenetrant [RCV000078549]|Propionic acidemia [RCV000235435]|not specified [RCV000078549] Chr13:100111930..100111933 [GRCh38]
Chr13:100764184..100764187 [GRCh37]
Chr13:13q32.3
benign
NM_000282.4(PCCA):c.300+20G>T single nucleotide variant Propionic acidemia [RCV000669365]|not provided [RCV000078550] Chr13:100112081 [GRCh38]
Chr13:100764335 [GRCh37]
Chr13:13q32.3
likely benign|uncertain significance
NM_000282.4(PCCA):c.914+19A>G single nucleotide variant Propionic acidemia [RCV000599865]|not provided [RCV000590009]|not specified [RCV000078551] Chr13:100268802 [GRCh38]
Chr13:100921056 [GRCh37]
Chr13:13q32.3
benign
NM_000282.4(PCCA):c.1429+7A>G single nucleotide variant Propionic acidemia [RCV000370381]|not specified [RCV000174996] Chr13:100309915 [GRCh38]
Chr13:100962169 [GRCh37]
Chr13:13q32.3
benign|likely benign|conflicting interpretations of pathogenicity
Single allele duplication Propionic acidemia [RCV000174236] Chr13:100925558..100925559 [GRCh37] pathogenic
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter) single nucleotide variant Propionic acidemia [RCV000176030]|not provided [RCV000724429] Chr13:100425674 [GRCh38]
Chr13:101077928 [GRCh37]
Chr13:13q32.3
pathogenic|likely pathogenic
NM_000282.4(PCCA):c.184-17_184-16del microsatellite Propionic acidemia [RCV000236484]|not specified [RCV000177028] Chr13:100111821..100111822 [GRCh38]
Chr13:100764075..100764076 [GRCh37]
Chr13:13q32.3
benign
NM_000282.4(PCCA):c.1899+4_1899+7del deletion Propionic acidemia [RCV001066663]|not provided [RCV000176154] Chr13:100449306..100449309 [GRCh38]
Chr13:101101560..101101563 [GRCh37]
Chr13:13q32.3
pathogenic|likely pathogenic
NM_000282.4(PCCA):c.627A>G (p.Ala209=) single nucleotide variant Propionic acidemia [RCV000392647]|not provided [RCV000587997]|not specified [RCV000180126] Chr13:100235868 [GRCh38]
Chr13:100888122 [GRCh37]
Chr13:13q32.3
benign|likely benign
NM_000282.4(PCCA):c.232-1G>A single nucleotide variant not provided [RCV000178067] Chr13:100111992 [GRCh38]
Chr13:100764246 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.1899+2_1899+3insCT insertion Propionic acidemia [RCV001293408] Chr13:100449306..100449307 [GRCh38]
Chr13:101101560..101101561 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.1933G>A (p.Glu645Lys) single nucleotide variant Propionic acidemia [RCV001303701] Chr13:100515460 [GRCh38]
Chr13:101167714 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.1136G>T (p.Gly379Val) single nucleotide variant not provided [RCV000174464] Chr13:100301530 [GRCh38]
Chr13:100953784 [GRCh37]
Chr13:13q32.3
uncertain significance
GRCh38/hg38 13q32.2-33.1(chr13:98008015-103697232)x3 copy number gain See cases [RCV000133986] Chr13:98008015..103697232 [GRCh38]
Chr13:98660269..104349582 [GRCh37]
Chr13:97458270..103147583 [NCBI36]
Chr13:13q32.2-33.1
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3 copy number gain See cases [RCV000137102] Chr13:88937651..114327173 [GRCh38]
Chr13:89589905..115085141 [GRCh37]
Chr13:88387906..114110750 [NCBI36]
Chr13:13q31.2-34
pathogenic
GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1 copy number loss See cases [RCV000136688] Chr13:93345058..109458154 [GRCh38]
Chr13:93997311..110110501 [GRCh37]
Chr13:92795312..108908502 [NCBI36]
Chr13:13q31.3-33.3
pathogenic
GRCh38/hg38 13q32.1-33.3(chr13:97213871-109162916)x1 copy number loss See cases [RCV000138024] Chr13:97213871..109162916 [GRCh38]
Chr13:97866125..109815264 [GRCh37]
Chr13:96664126..108613265 [NCBI36]
Chr13:13q32.1-33.3
pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3 copy number gain See cases [RCV000138742] Chr13:78999318..114327106 [GRCh38]
Chr13:79573453..115085141 [GRCh37]
Chr13:78471454..114110683 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1 copy number loss See cases [RCV000138340] Chr13:86788927..114340331 [GRCh38]
Chr13:87441182..115085141 [GRCh37]
Chr13:86239183..114123908 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3 copy number gain See cases [RCV000139021] Chr13:95744855..110863818 [GRCh38]
Chr13:96397109..111516165 [GRCh37]
Chr13:95195110..110314166 [NCBI36]
Chr13:13q32.1-34
pathogenic
GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3 copy number gain See cases [RCV000139160] Chr13:96745059..114327106 [GRCh38]
Chr13:97397313..115085141 [GRCh37]
Chr13:96195314..114110683 [NCBI36]
Chr13:13q32.1-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3 copy number gain See cases [RCV000141248] Chr13:78964223..114340331 [GRCh38]
Chr13:79538358..115085141 [GRCh37]
Chr13:78436359..114123908 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3 copy number gain See cases [RCV000141804] Chr13:83288131..114342258 [GRCh38]
Chr13:83862266..115107733 [GRCh37]
Chr13:82760267..114125835 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q32.3(chr13:100244292-100501113)x1 copy number loss See cases [RCV000142342] Chr13:100244292..100501113 [GRCh38]
Chr13:100896546..101153367 [GRCh37]
Chr13:99694547..99951368 [NCBI36]
Chr13:13q32.3
uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
NM_000282.4(PCCA):c.806A>G (p.His269Arg) single nucleotide variant not provided [RCV000254942] Chr13:100262818 [GRCh38]
Chr13:100915072 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.145C>T (p.Arg49Cys) single nucleotide variant Propionic acidemia [RCV000872167]|not specified [RCV000186080] Chr13:100102922 [GRCh38]
Chr13:100755176 [GRCh37]
Chr13:13q32.3
likely benign|uncertain significance
NM_000282.4(PCCA):c.328G>C (p.Val110Leu) single nucleotide variant Propionic acidemia [RCV000380145]|not provided [RCV000186084] Chr13:100155006 [GRCh38]
Chr13:100807260 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.686T>A (p.Met229Lys) single nucleotide variant not provided [RCV000180484] Chr13:100257643 [GRCh38]
Chr13:100909897 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro) single nucleotide variant Propionic acidemia [RCV000674930]|not provided [RCV000177029] Chr13:100111880 [GRCh38]
Chr13:100764134 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.437T>C (p.Leu146Pro) single nucleotide variant not provided [RCV000186079]|not specified [RCV001193473] Chr13:100157309 [GRCh38]
Chr13:100809563 [GRCh37]
Chr13:13q32.3
likely pathogenic|uncertain significance
NM_000282.3(PCCA):c.1397T>C (p.Met466Thr) single nucleotide variant not provided [RCV000186082] Chr13:100309876 [GRCh38]
Chr13:100962130 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg) single nucleotide variant Propionic acidemia [RCV000664489] Chr13:100449297 [GRCh38]
Chr13:101101551 [GRCh37]
Chr13:13q32.3
pathogenic|likely pathogenic
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) single nucleotide variant Propionic acidemia [RCV000414788]|not provided [RCV000186085] Chr13:100157297 [GRCh38]
Chr13:100809551 [GRCh37]
Chr13:13q32.3
pathogenic|likely pathogenic
GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1 copy number loss See cases [RCV000240161] Chr13:89796110..115083342 [GRCh37]
Chr13:13q31.2-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34
pathogenic
NM_000282.4(PCCA):c.1284+1G>A single nucleotide variant Propionic acidemia [RCV000670117]|not provided [RCV000382350] Chr13:100302999 [GRCh38]
Chr13:100955253 [GRCh37]
Chr13:13q32.3
pathogenic|likely pathogenic
NM_000282.4(PCCA):c.1342A>G (p.Met448Val) single nucleotide variant Propionic acidemia [RCV000544800] Chr13:100307249 [GRCh38]
Chr13:100959503 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.1643+1_1643+2dup duplication Propionic acidemia [RCV000669318] Chr13:100340259..100340260 [GRCh38]
Chr13:100992513..100992514 [GRCh37]
Chr13:13q32.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp) single nucleotide variant Propionic acidemia [RCV000669398] Chr13:100257616 [GRCh38]
Chr13:100909870 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.284A>G (p.Asp95Gly) single nucleotide variant Propionic acidemia [RCV000235343] Chr13:100112045 [GRCh38]
Chr13:100764299 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.3(PCCA):c.183delA deletion Propionic acidemia [RCV000235351] Chr13:100102956 [GRCh38]
Chr13:100755210 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.105+1G>A single nucleotide variant Propionic acidemia [RCV000235483] Chr13:100089226 [GRCh38]
Chr13:100741480 [GRCh37]
Chr13:13q32.3
pathogenic|likely pathogenic
NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs) deletion Propionic acidemia [RCV000235559] Chr13:100301582..100301585 [GRCh38]
Chr13:100953836..100953839 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.467T>A (p.Leu156Ter) single nucleotide variant Propionic acidemia [RCV000235728] Chr13:100157339 [GRCh38]
Chr13:100809593 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.548T>G (p.Leu183Ter) single nucleotide variant Propionic acidemia [RCV000235810] Chr13:100209411 [GRCh38]
Chr13:100861665 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.184-1G>A single nucleotide variant Propionic acidemia [RCV000235869] Chr13:100111840 [GRCh38]
Chr13:100764094 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.600+1G>T single nucleotide variant Propionic acidemia [RCV000235932] Chr13:100209464 [GRCh38]
Chr13:100861718 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) single nucleotide variant Propionic acidemia [RCV000235940] Chr13:100515529 [GRCh38]
Chr13:101167783 [GRCh37]
Chr13:13q32.3
pathogenic|likely pathogenic
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) single nucleotide variant Propionic acidemia [RCV000236220]|not specified [RCV000611609] Chr13:100368504 [GRCh38]
Chr13:101020758 [GRCh37]
Chr13:13q32.3
pathogenic|benign|conflicting interpretations of pathogenicity
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg) single nucleotide variant Propionic acidemia [RCV000236234] Chr13:100268747 [GRCh38]
Chr13:100921001 [GRCh37]
Chr13:13q32.3
pathogenic|conflicting interpretations of pathogenicity
NM_000282.3:c.1353+5delGTTTA deletion Propionic acidemia [RCV000236383] Chr13:13q32.3 pathogenic
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) single nucleotide variant Propionic acidemia [RCV000236395] Chr13:100309905 [GRCh38]
Chr13:100962159 [GRCh37]
Chr13:13q32.3
pathogenic|likely pathogenic
NM_000282.4(PCCA):c.134_135del (p.Leu45fs) deletion Propionic acidemia [RCV000236562] Chr13:100102911..100102912 [GRCh38]
Chr13:100755165..100755166 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.1747-1G>C single nucleotide variant Propionic acidemia [RCV000236764] Chr13:100425632 [GRCh38]
Chr13:101077886 [GRCh37]
Chr13:13q32.3
pathogenic|likely pathogenic
NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg) single nucleotide variant Propionic acidemia [RCV000236842] Chr13:100527696 [GRCh38]
Chr13:101179950 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.863G>A (p.Arg288Lys) single nucleotide variant Propionic acidemia [RCV000236908] Chr13:100268732 [GRCh38]
Chr13:100920986 [GRCh37]
Chr13:13q32.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) single nucleotide variant Propionic acidemia [RCV000236921] Chr13:100515567 [GRCh38]
Chr13:101167821 [GRCh37]
Chr13:13q32.3
pathogenic|conflicting interpretations of pathogenicity
NM_000282.4(PCCA):c.431G>T (p.Gly144Val) single nucleotide variant Propionic acidemia [RCV000237065] Chr13:100157303 [GRCh38]
Chr13:100809557 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu) single nucleotide variant Propionic acidemia [RCV000312364]|not provided [RCV000224499]|not specified [RCV000249841] Chr13:100368573 [GRCh38]
Chr13:101020827 [GRCh37]
Chr13:13q32.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp) single nucleotide variant Propionic acidemia [RCV000675079]|not provided [RCV000224898] Chr13:100301465 [GRCh38]
Chr13:100953719 [GRCh37]
Chr13:13q32.3
likely pathogenic|uncertain significance
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) single nucleotide variant Propionic acidemia [RCV000343943]|not provided [RCV000726318] Chr13:100262814 [GRCh38]
Chr13:100915068 [GRCh37]
Chr13:13q32.3
likely pathogenic|conflicting interpretations of pathogenicity
NM_000282.4(PCCA):c.2133_2135del (p.Cys712del) deletion Propionic acidemia [RCV000669763] Chr13:100530112..100530114 [GRCh38]
Chr13:101182366..101182368 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.1540+2T>A single nucleotide variant Propionic acidemia [RCV000669915] Chr13:100330673 [GRCh38]
Chr13:100982927 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu) single nucleotide variant Propionic acidemia [RCV000669921] Chr13:100302982 [GRCh38]
Chr13:100955236 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.1644-31A>G single nucleotide variant not specified [RCV000253360] Chr13:100368441 [GRCh38]
Chr13:101020695 [GRCh37]
Chr13:13q32.3
benign
NM_000282.4(PCCA):c.862A>C (p.Arg288=) single nucleotide variant Propionic acidemia [RCV000898486]|not specified [RCV000246877] Chr13:100268731 [GRCh38]
Chr13:100920985 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.231+47_231+50del microsatellite Propionic acidemia [RCV000235435]|not specified [RCV000247194] Chr13:100111930..100111933 [GRCh38]
Chr13:100764184..100764187 [GRCh37]
Chr13:13q32.3
benign
NM_000282.4(PCCA):c.24A>G (p.Thr8=) single nucleotide variant Propionic acidemia [RCV000906313]|not specified [RCV000250327] Chr13:100089144 [GRCh38]
Chr13:100741398 [GRCh37]
Chr13:13q32.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000282.4(PCCA):c.1353+5_1353+9del deletion Propionic acidemia [RCV000236383] Chr13:100307262..100307266 [GRCh38]
Chr13:100959516..100959520 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.432A>G (p.Gly144=) single nucleotide variant Propionic acidemia [RCV000283779] Chr13:100157304 [GRCh38]
Chr13:100809558 [GRCh37]
Chr13:13q32.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000282.4(PCCA):c.778A>C (p.Ile260Leu) single nucleotide variant Propionic acidemia [RCV000282575] Chr13:100262790 [GRCh38]
Chr13:100915044 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.*190C>G single nucleotide variant Propionic acidemia [RCV000375316] Chr13:100530356 [GRCh38]
Chr13:101182610 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.2039C>T (p.Ala680Val) single nucleotide variant Propionic acidemia [RCV000272420] Chr13:100515566 [GRCh38]
Chr13:101167820 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.*190C>T single nucleotide variant Propionic acidemia [RCV000278540] Chr13:100530356 [GRCh38]
Chr13:101182610 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.*57_*60del deletion Propionic acidemia [RCV000266681] Chr13:100530223..100530226 [GRCh38]
Chr13:101182477..101182480 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.231+15C>T single nucleotide variant Propionic acidemia [RCV000323167]|not provided [RCV000514592]|not specified [RCV000611978] Chr13:100111903 [GRCh38]
Chr13:100764157 [GRCh37]
Chr13:13q32.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000282.4(PCCA):c.*115C>T single nucleotide variant Propionic acidemia [RCV000324179] Chr13:100530281 [GRCh38]
Chr13:101182535 [GRCh37]
Chr13:13q32.3
likely benign|uncertain significance
NM_001127692.2(PCCA):c.-60C>T single nucleotide variant Propionic acidemia [RCV000329429] Chr13:100089061 [GRCh38]
Chr13:100741315 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.1236A>G (p.Pro412=) single nucleotide variant Propionic acidemia [RCV000405157]|not specified [RCV000444817] Chr13:100302950 [GRCh38]
Chr13:100955204 [GRCh37]
Chr13:13q32.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000282.4(PCCA):c.-20G>A single nucleotide variant Propionic acidemia [RCV000381820]|not specified [RCV000421667] Chr13:100089101 [GRCh38]
Chr13:100741355 [GRCh37]
Chr13:13q32.3
likely benign|uncertain significance
NM_000282.4(PCCA):c.2118+1G>A single nucleotide variant not provided [RCV000388612] Chr13:100527753 [GRCh38]
Chr13:101180007 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.2172C>T (p.Leu724=) single nucleotide variant Propionic acidemia [RCV000363413]|not specified [RCV000420050] Chr13:100530151 [GRCh38]
Chr13:101182405 [GRCh37]
Chr13:13q32.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000282.4(PCCA):c.*159T>G single nucleotide variant Propionic acidemia [RCV000318390] Chr13:100530325 [GRCh38]
Chr13:101182579 [GRCh37]
Chr13:13q32.3
likely benign|uncertain significance
NM_000282.4(PCCA):c.522G>A (p.Met174Ile) single nucleotide variant Propionic acidemia [RCV000341080] Chr13:100209385 [GRCh38]
Chr13:100861639 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.2037C>T (p.Asp679=) single nucleotide variant Propionic acidemia [RCV000364451] Chr13:100515564 [GRCh38]
Chr13:101167818 [GRCh37]
Chr13:13q32.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000282.4(PCCA):c.999G>A (p.Gly333=) single nucleotide variant Propionic acidemia [RCV001279945] Chr13:100273280 [GRCh38]
Chr13:100925534 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.649A>G (p.Met217Val) single nucleotide variant Propionic acidemia [RCV001279944] Chr13:100257606 [GRCh38]
Chr13:100909860 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.1561_1566delinsTATTGCCAATAACC (p.Glu521_Lys522delinsTyrCysGlnTer) indel not provided [RCV000597820] Chr13:100340177..100340182 [GRCh38]
Chr13:100992431..100992436 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.1383G>A (p.Glu461=) single nucleotide variant Propionic acidemia [RCV001277462] Chr13:100309862 [GRCh38]
Chr13:100962116 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.2040+9TG[3] microsatellite Propionic acidemia [RCV001277466] Chr13:100515576..100515577 [GRCh38]
Chr13:101167830..101167831 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.2113G>T (p.Gly705Cys) single nucleotide variant Propionic acidemia [RCV001277468] Chr13:100527747 [GRCh38]
Chr13:101180001 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.*158dup duplication Propionic acidemia [RCV000284281] Chr13:100530318..100530319 [GRCh38]
Chr13:101182572..101182573 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.923dup (p.Leu308fs) duplication Propionic acidemia [RCV000335150] Chr13:100273197..100273198 [GRCh38]
Chr13:100925451..100925452 [GRCh37]
Chr13:13q32.3
pathogenic|uncertain significance
NM_000282.4(PCCA):c.2040+11dup duplication Propionic acidemia [RCV000325104]|not specified [RCV000611640] Chr13:100515577..100515578 [GRCh38]
Chr13:101167831..101167832 [GRCh37]
Chr13:13q32.3
likely benign|uncertain significance
NM_000282.4(PCCA):c.-5C>T single nucleotide variant Propionic acidemia [RCV000289749] Chr13:100089116 [GRCh38]
Chr13:100741370 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.*116G>A single nucleotide variant Propionic acidemia [RCV000376359] Chr13:100530282 [GRCh38]
Chr13:101182536 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.1747-3C>G single nucleotide variant not provided [RCV000593206] Chr13:100425630 [GRCh38]
Chr13:101077884 [GRCh37]
Chr13:13q32.3
likely pathogenic
NC_000013.11:g.(?_100301460)_(100425731_?)del deletion Propionic acidemia [RCV000532770] Chr13:100301460..100425731 [GRCh38]
Chr13:100953714..101077985 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) single nucleotide variant Propionic acidemia [RCV000664657]|not provided [RCV000522063] Chr13:100268762 [GRCh38]
Chr13:100921016 [GRCh37]
Chr13:13q32.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000282.4(PCCA):c.2118+988G>A single nucleotide variant not provided [RCV000589503] Chr13:100528740 [GRCh38]
Chr13:101180994 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.2127_2128TG[1] (p.Val710fs) microsatellite Propionic acidemia [RCV001228511]|not provided [RCV000757595] Chr13:100530106..100530107 [GRCh38]
Chr13:101182360..101182361 [GRCh37]
Chr13:13q32.3
likely pathogenic|uncertain significance
NM_000282.4(PCCA):c.2119-9A>G single nucleotide variant Propionic acidemia [RCV000534995] Chr13:100530089 [GRCh38]
Chr13:101182343 [GRCh37]
Chr13:13q32.3
pathogenic|likely pathogenic
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) single nucleotide variant Propionic acidemia [RCV000538185] Chr13:100262794 [GRCh38]
Chr13:100915048 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.1066G>C (p.Val356Leu) single nucleotide variant Propionic acidemia [RCV000790491] Chr13:100301460 [GRCh38]
Chr13:100953714 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.1330dup (p.Tyr444fs) duplication Propionic acidemia [RCV000790493] Chr13:100307234..100307235 [GRCh38]
Chr13:100959488..100959489 [GRCh37]
Chr13:13q32.3
pathogenic
GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1 copy number loss See cases [RCV000449272] Chr13:53551300..109850651 [GRCh37]
Chr13:13q14.3-33.3
pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)x3 copy number gain See cases [RCV000449118] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q31.3-34(chr13:94269729-115107733)x3 copy number gain See cases [RCV000447545] Chr13:94269729..115107733 [GRCh37]
Chr13:13q31.3-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3 copy number gain See cases [RCV000447429] Chr13:82221361..115092569 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q21.1-34(chr13:56431743-115107733) copy number gain See cases [RCV000510722] Chr13:56431743..115107733 [GRCh37]
Chr13:13q21.1-34
pathogenic
NM_000282.4(PCCA):c.828T>C (p.Gly276=) single nucleotide variant Propionic acidemia [RCV000870682]|not specified [RCV000431431] Chr13:100268697 [GRCh38]
Chr13:100920951 [GRCh37]
Chr13:13q32.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000282.4(PCCA):c.1131T>G (p.Ala377=) single nucleotide variant Propionic acidemia [RCV000871287]|not specified [RCV000428471] Chr13:100301525 [GRCh38]
Chr13:100953779 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.-14C>T single nucleotide variant not specified [RCV000431934] Chr13:100089107 [GRCh38]
Chr13:100741361 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.415-9A>G single nucleotide variant Propionic acidemia [RCV000924363]|not specified [RCV000442871] Chr13:100157278 [GRCh38]
Chr13:100809532 [GRCh37]
Chr13:13q32.3
likely benign
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_000282.4(PCCA):c.637+18C>T single nucleotide variant not specified [RCV000428755] Chr13:100235896 [GRCh38]
Chr13:100888150 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.1430-18A>T single nucleotide variant not specified [RCV000432301] Chr13:100330543 [GRCh38]
Chr13:100982797 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.42C>T (p.Ala14=) single nucleotide variant Propionic acidemia [RCV000864224]|not specified [RCV000422288] Chr13:100089162 [GRCh38]
Chr13:100741416 [GRCh37]
Chr13:13q32.3
likely benign|conflicting interpretations of pathogenicity
NM_000282.4(PCCA):c.1285-4C>T single nucleotide variant Propionic acidemia [RCV000938495]|not specified [RCV000429591] Chr13:100307188 [GRCh38]
Chr13:100959442 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.1257G>A (p.Gln419=) single nucleotide variant Propionic acidemia [RCV000634874]|not specified [RCV000432799] Chr13:100302971 [GRCh38]
Chr13:100955225 [GRCh37]
Chr13:13q32.3
benign|likely benign
NM_000282.4(PCCA):c.1285-15C>T single nucleotide variant not specified [RCV000420065] Chr13:100307177 [GRCh38]
Chr13:100959431 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.1285-7C>T single nucleotide variant not specified [RCV000426043] Chr13:100307185 [GRCh38]
Chr13:100959439 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.601-10G>A single nucleotide variant not specified [RCV000429877] Chr13:100235832 [GRCh38]
Chr13:100888086 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.1284+16G>A single nucleotide variant not specified [RCV000437359] Chr13:100303014 [GRCh38]
Chr13:100955268 [GRCh37]
Chr13:13q32.3
benign
GRCh37/hg19 13q32.3(chr13:99910600-100909782) copy number gain See cases [RCV000448013] Chr13:99910600..100909782 [GRCh37]
Chr13:13q32.3
uncertain significance
GRCh37/hg19 13q31.1-33.1(chr13:81851091-102864674)x1 copy number loss See cases [RCV000448988] Chr13:81851091..102864674 [GRCh37]
Chr13:13q31.1-33.1
pathogenic
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)x1 copy number loss See cases [RCV000448405] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34
pathogenic
NM_000282.4(PCCA):c.1541-19del deletion not specified [RCV000482234] Chr13:100340137 [GRCh38]
Chr13:100992391 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.1541-37TGAT[3] microsatellite not specified [RCV000486699] Chr13:100340120..100340123 [GRCh38]
Chr13:100992374..100992377 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.3(PCCA):c.184-20_184-19delTG deletion not specified [RCV000482742] Chr13:100111821..100111822 [GRCh38]
Chr13:100764075..100764076 [GRCh37]
Chr13:13q32.3
benign
NM_000282.4(PCCA):c.742G>A (p.Glu248Lys) single nucleotide variant not provided [RCV000480056] Chr13:100262754 [GRCh38]
Chr13:100915008 [GRCh37]
Chr13:13q32.3
likely pathogenic
GRCh37/hg19 13q32.2-33.1(chr13:98607855-104370539)x3 copy number gain See cases [RCV000510620] Chr13:98607855..104370539 [GRCh37]
Chr13:13q32.2-33.1
likely pathogenic
GRCh37/hg19 13q32.1-33.1(chr13:98158452-101950563)x3 copy number gain See cases [RCV000510477] Chr13:98158452..101950563 [GRCh37]
Chr13:13q32.1-33.1
likely pathogenic
GRCh37/hg19 13q32.3-33.1(chr13:100016737-101862895)x1 copy number loss See cases [RCV000510641] Chr13:100016737..101862895 [GRCh37]
Chr13:13q32.3-33.1
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1 copy number loss See cases [RCV000510535] Chr13:94474530..115107733 [GRCh37]
Chr13:13q31.3-34
pathogenic
GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4 copy number gain See cases [RCV000510281] Chr13:71871468..115107733 [GRCh37]
Chr13:13q21.33-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3 copy number gain See cases [RCV000510566] Chr13:80058840..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys) single nucleotide variant Propionic acidemia [RCV001083571]|not provided [RCV000493022] Chr13:100340174 [GRCh38]
Chr13:100992428 [GRCh37]
Chr13:13q32.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q31.1-33.3(chr13:80572498-108719528)x1 copy number loss See cases [RCV000510890] Chr13:80572498..108719528 [GRCh37]
Chr13:13q31.1-33.3
pathogenic
GRCh37/hg19 13q32.3(chr13:99333632-100773336)x1 copy number loss See cases [RCV000511270] Chr13:99333632..100773336 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.2119-43T>C single nucleotide variant not specified [RCV000595860] Chr13:100530055 [GRCh38]
Chr13:101182309 [GRCh37]
Chr13:13q32.3
benign
NM_000282.4(PCCA):c.947T>G (p.Met316Arg) single nucleotide variant not provided [RCV000597665] Chr13:100273228 [GRCh38]
Chr13:100925482 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.947T>A (p.Met316Lys) single nucleotide variant not provided [RCV000586456] Chr13:100273228 [GRCh38]
Chr13:100925482 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.414+15A>G single nucleotide variant not specified [RCV000615301] Chr13:100155107 [GRCh38]
Chr13:100807361 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.645T>G (p.Pro215=) single nucleotide variant Propionic acidemia [RCV001273178]|not specified [RCV000600688] Chr13:100257602 [GRCh38]
Chr13:100909856 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.1541-12_1541-9del microsatellite not specified [RCV000610334] Chr13:100340139..100340142 [GRCh38]
Chr13:100992393..100992396 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.1065+5C>T single nucleotide variant Propionic acidemia [RCV000804989]|not specified [RCV000616560] Chr13:100273351 [GRCh38]
Chr13:100925605 [GRCh37]
Chr13:13q32.3
likely benign|uncertain significance
NM_000282.4(PCCA):c.468+11A>C single nucleotide variant not specified [RCV000616588] Chr13:100157351 [GRCh38]
Chr13:100809605 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.300+3930C>T single nucleotide variant not provided [RCV000585986] Chr13:100115991 [GRCh38]
Chr13:100768245 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.1176C>T (p.Asn392=) single nucleotide variant not specified [RCV000614647] Chr13:100301570 [GRCh38]
Chr13:100953824 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.1846-9G>T single nucleotide variant Propionic acidemia [RCV000536589]|not specified [RCV000601701] Chr13:100449243 [GRCh38]
Chr13:101101497 [GRCh37]
Chr13:13q32.3
benign
GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3 copy number gain See cases [RCV000512605] Chr13:83435292..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q32.1-34(chr13:96586481-115107733)x1 copy number loss See cases [RCV000512257] Chr13:96586481..115107733 [GRCh37]
Chr13:13q32.1-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3 copy number gain See cases [RCV000512242] Chr13:85176519..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
NM_000282.4(PCCA):c.231+1G>C single nucleotide variant Propionic acidemia [RCV000664756] Chr13:100111889 [GRCh38]
Chr13:100764143 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.1846-1G>A single nucleotide variant Propionic acidemia [RCV000673557] Chr13:100449251 [GRCh38]
Chr13:101101505 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.1540+1G>C single nucleotide variant Propionic acidemia [RCV000670479] Chr13:100330672 [GRCh38]
Chr13:100982926 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.183+4_183+7del microsatellite Propionic acidemia [RCV000670345] Chr13:100102959..100102962 [GRCh38]
Chr13:100755213..100755216 [GRCh37]
Chr13:13q32.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter) single nucleotide variant Propionic acidemia [RCV000669487] Chr13:100449261 [GRCh38]
Chr13:101101515 [GRCh37]
Chr13:13q32.3
pathogenic|likely pathogenic
NM_000282.4(PCCA):c.1209+3A>G single nucleotide variant Propionic acidemia [RCV000668869] Chr13:100301606 [GRCh38]
Chr13:100953860 [GRCh37]
Chr13:13q32.3
pathogenic|likely pathogenic
NM_000282.4(PCCA):c.2041-2A>G single nucleotide variant Propionic acidemia [RCV000667861] Chr13:100527673 [GRCh38]
Chr13:101179927 [GRCh37]
Chr13:13q32.3
pathogenic|likely pathogenic
NM_000282.4(PCCA):c.2040+9TG[5] microsatellite Propionic acidemia [RCV000674050] Chr13:100515575..100515576 [GRCh38]
Chr13:101167829..101167830 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.2dup (p.Met1fs) duplication Propionic acidemia [RCV000667138] Chr13:100089121..100089122 [GRCh38]
Chr13:100741375..100741376 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.656dup (p.Ala220fs) duplication Propionic acidemia [RCV000790384] Chr13:100257611..100257612 [GRCh38]
Chr13:100909865..100909866 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.305del (p.His102fs) deletion Propionic acidemia [RCV000790483] Chr13:100154983 [GRCh38]
Chr13:100807237 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.69_78del (p.Gln23fs) deletion Propionic acidemia [RCV000672652] Chr13:100089189..100089198 [GRCh38]
Chr13:100741443..100741452 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.15G>A (p.Trp5Ter) single nucleotide variant Propionic acidemia [RCV000674821] Chr13:100089135 [GRCh38]
Chr13:100741389 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.183+2T>C single nucleotide variant Propionic acidemia [RCV000667341] Chr13:100102962 [GRCh38]
Chr13:100755216 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del) deletion Propionic acidemia [RCV000670118] Chr13:100340209..100340211 [GRCh38]
Chr13:100992463..100992465 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer) deletion Propionic acidemia [RCV000674020] Chr13:100157312 [GRCh38]
Chr13:100809566 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.1746G>A (p.Ser582=) single nucleotide variant Propionic acidemia [RCV000672493] Chr13:100368574 [GRCh38]
Chr13:101020828 [GRCh37]
Chr13:13q32.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000282.4(PCCA):c.2040+1G>T single nucleotide variant Propionic acidemia [RCV000674408] Chr13:100515568 [GRCh38]
Chr13:101167822 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.1102G>C (p.Asp368His) single nucleotide variant Propionic acidemia [RCV000664662] Chr13:100301496 [GRCh38]
Chr13:100953750 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.2103del (p.Thr704fs) deletion Propionic acidemia [RCV000673628] Chr13:100527737 [GRCh38]
Chr13:101179991 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.2027del (p.Lys676fs) deletion Propionic acidemia [RCV000674645] Chr13:100515553 [GRCh38]
Chr13:101167807 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp) single nucleotide variant Propionic acidemia [RCV000665579] Chr13:100111886 [GRCh38]
Chr13:100764140 [GRCh37]
Chr13:13q32.3
pathogenic|likely pathogenic
NM_000282.4(PCCA):c.843del (p.Asn281fs) deletion Propionic acidemia [RCV000675029] Chr13:100268712 [GRCh38]
Chr13:100920966 [GRCh37]
Chr13:13q32.3
pathogenic|likely pathogenic
NM_000282.4(PCCA):c.1997T>A (p.Met666Lys) single nucleotide variant Propionic acidemia [RCV000674908] Chr13:100515524 [GRCh38]
Chr13:101167778 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.2T>C (p.Met1Thr) single nucleotide variant Propionic acidemia [RCV000673344] Chr13:100089122 [GRCh38]
Chr13:100741376 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.608_610AAG[1] (p.Glu204del) microsatellite Propionic acidemia [RCV000664787] Chr13:100235847..100235849 [GRCh38]
Chr13:100888101..100888103 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.722del (p.Gly241fs) deletion Propionic acidemia [RCV000666232] Chr13:100262733 [GRCh38]
Chr13:100914987 [GRCh37]
Chr13:13q32.3
pathogenic|likely pathogenic
NM_000282.4(PCCA):c.915-1G>C single nucleotide variant Propionic acidemia [RCV000667400] Chr13:100273195 [GRCh38]
Chr13:100925449 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val) single nucleotide variant Propionic acidemia [RCV000664973] Chr13:100330561 [GRCh38]
Chr13:100982815 [GRCh37]
Chr13:13q32.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs) insertion Propionic acidemia [RCV000665086] Chr13:100530140..100530141 [GRCh38]
Chr13:101182394..101182395 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter) single nucleotide variant Propionic acidemia [RCV000667828] Chr13:100527690 [GRCh38]
Chr13:101179944 [GRCh37]
Chr13:13q32.3
likely pathogenic
GRCh37/hg19 13q32.3(chr13:100825782-100942854)x1 copy number loss not provided [RCV000683490] Chr13:100825782..100942854 [GRCh37]
Chr13:13q32.3
uncertain significance
GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3 copy number gain not provided [RCV000683571] Chr13:78590089..115107733 [GRCh37]
Chr13:13q22.3-34
pathogenic
GRCh37/hg19 13q31.3-33.3(chr13:94703767-109731879)x1 copy number loss not provided [RCV000683570] Chr13:94703767..109731879 [GRCh37]
Chr13:13q31.3-33.3
pathogenic
GRCh37/hg19 13q32.3(chr13:100909075-101043671)x1 copy number loss not provided [RCV000683492] Chr13:100909075..101043671 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.915C>G (p.Ser305Arg) single nucleotide variant Propionic acidemia [RCV000688562] Chr13:100273196 [GRCh38]
Chr13:100925450 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.590G>C (p.Gly197Ala) single nucleotide variant Propionic acidemia [RCV000695154] Chr13:100209453 [GRCh38]
Chr13:100861707 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.819+9A>G single nucleotide variant Propionic acidemia [RCV000689202] Chr13:100262840 [GRCh38]
Chr13:100915094 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.929C>T (p.Ala310Val) single nucleotide variant Propionic acidemia [RCV000695290] Chr13:100273210 [GRCh38]
Chr13:100925464 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.202G>A (p.Val68Ile) single nucleotide variant Propionic acidemia [RCV000688231] Chr13:100111859 [GRCh38]
Chr13:100764113 [GRCh37]
Chr13:13q32.3
uncertain significance
NC_000013.11:g.(?_100527665)_(100530447_?)del deletion Propionic acidemia [RCV000814629] Chr13:100527665..100530447 [GRCh38]
Chr13:101179919..101182701 [GRCh37]
Chr13:13q32.3
pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q32.3-34(chr13:101075864-115105020)x1 copy number loss not provided [RCV000738357] Chr13:101075864..115105020 [GRCh37]
Chr13:13q32.3-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34
pathogenic
NM_000282.4(PCCA):c.184-6C>T single nucleotide variant Propionic acidemia [RCV000896215] Chr13:100111835 [GRCh38]
Chr13:100764089 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.33G>T (p.Leu11=) single nucleotide variant not provided [RCV000977636] Chr13:100089153 [GRCh38]
Chr13:100741407 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.1114G>A (p.Glu372Lys) single nucleotide variant Propionic acidemia [RCV000761452] Chr13:100301508 [GRCh38]
Chr13:100953762 [GRCh37]
Chr13:13q32.3
uncertain significance
NC_000013.11:g.(?_100154969)_(100273356_?)del deletion Propionic acidemia [RCV001033156] Chr13:100807223..100925610 [GRCh37]
Chr13:13q32.3
likely pathogenic
NC_000013.11:g.(?_100449242)_(100491683_?)del deletion Propionic acidemia [RCV001033254] Chr13:101101496..101143937 [GRCh37]
Chr13:13q32.3
likely pathogenic
NC_000013.11:g.(?_100209322)_(100235888_?)del deletion Propionic acidemia [RCV001033701] Chr13:100861576..100888142 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.145del (p.Arg49fs) deletion Propionic acidemia [RCV001045606] Chr13:100102920 [GRCh38]
Chr13:100755174 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.2155G>A (p.Gly719Arg) single nucleotide variant Propionic acidemia [RCV001046670] Chr13:100530134 [GRCh38]
Chr13:101182388 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.1288C>T (p.Arg430Ter) single nucleotide variant Propionic acidemia [RCV001055670] Chr13:100307195 [GRCh38]
Chr13:100959449 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.*34A>C single nucleotide variant Propionic acidemia [RCV001115145] Chr13:100530200 [GRCh38]
Chr13:101182454 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.2055A>G (p.Gln685=) single nucleotide variant Propionic acidemia [RCV000970883] Chr13:100527689 [GRCh38]
Chr13:101179943 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.825A>G (p.Leu275=) single nucleotide variant Propionic acidemia [RCV000877311] Chr13:100268694 [GRCh38]
Chr13:100920948 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.1515C>T (p.Ser505=) single nucleotide variant Propionic acidemia [RCV000900659] Chr13:100330646 [GRCh38]
Chr13:100982900 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.914+8T>A single nucleotide variant Propionic acidemia [RCV000903322] Chr13:100268791 [GRCh38]
Chr13:100921045 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.2169G>A (p.Leu723=) single nucleotide variant Propionic acidemia [RCV000982809] Chr13:100530148 [GRCh38]
Chr13:101182402 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly) single nucleotide variant Propionic acidemia [RCV000970533] Chr13:100273210 [GRCh38]
Chr13:100925464 [GRCh37]
Chr13:13q32.3
likely benign|conflicting interpretations of pathogenicity
NM_000282.4(PCCA):c.762C>A (p.Gly254=) single nucleotide variant Propionic acidemia [RCV000944302] Chr13:100262774 [GRCh38]
Chr13:100915028 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro) single nucleotide variant Propionic acidemia [RCV000877589] Chr13:100449256 [GRCh38]
Chr13:101101510 [GRCh37]
Chr13:13q32.3
benign|conflicting interpretations of pathogenicity
NM_000282.4(PCCA):c.1659A>G (p.Lys553=) single nucleotide variant not provided [RCV000995072] Chr13:100368487 [GRCh38]
Chr13:101020741 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.43G>T (p.Gly15Ter) single nucleotide variant Propionic acidemia [RCV000790482] Chr13:100089163 [GRCh38]
Chr13:100741417 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.415-2A>C single nucleotide variant Propionic acidemia [RCV000780576] Chr13:100157285 [GRCh38]
Chr13:100809539 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.21del (p.Thr8fs) deletion Propionic acidemia [RCV000790385] Chr13:100089139 [GRCh38]
Chr13:100741393 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln) single nucleotide variant Propionic acidemia [RCV000778383] Chr13:100111887 [GRCh38]
Chr13:100764141 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.615dup (p.Val206fs) duplication Propionic acidemia [RCV000778384] Chr13:100235855..100235856 [GRCh38]
Chr13:100888109..100888110 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.9G>C (p.Gly3=) single nucleotide variant Propionic acidemia [RCV000978339] Chr13:100089129 [GRCh38]
Chr13:100741383 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.1353+10A>C single nucleotide variant not provided [RCV000976471] Chr13:100307270 [GRCh38]
Chr13:100959524 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.36C>T (p.Val12=) single nucleotide variant Propionic acidemia [RCV000945722] Chr13:100089156 [GRCh38]
Chr13:100741410 [GRCh37]
Chr13:13q32.3
benign
NM_000282.4(PCCA):c.1899+7A>G single nucleotide variant Propionic acidemia [RCV000916442] Chr13:100449312 [GRCh38]
Chr13:101101566 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.54G>A (p.Gly18=) single nucleotide variant Propionic acidemia [RCV001277102]|not provided [RCV000941681] Chr13:100089174 [GRCh38]
Chr13:100741428 [GRCh37]
Chr13:13q32.3
likely benign|uncertain significance
NM_000282.4(PCCA):c.69G>A (p.Gln23=) single nucleotide variant Propionic acidemia [RCV000983733] Chr13:100089189 [GRCh38]
Chr13:100741443 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.1884G>A (p.Gln628=) single nucleotide variant Propionic acidemia [RCV000938067] Chr13:100449290 [GRCh38]
Chr13:101101544 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.414+7C>G single nucleotide variant not provided [RCV000975761] Chr13:100155099 [GRCh38]
Chr13:100807353 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.747T>C (p.Ala249=) single nucleotide variant Propionic acidemia [RCV000937005] Chr13:100262759 [GRCh38]
Chr13:100915013 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.525C>T (p.Gly175=) single nucleotide variant Propionic acidemia [RCV000978424] Chr13:100209388 [GRCh38]
Chr13:100861642 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.231+8G>A single nucleotide variant Propionic acidemia [RCV000979798] Chr13:100111896 [GRCh38]
Chr13:100764150 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.1980T>C (p.Ser660=) single nucleotide variant Propionic acidemia [RCV000941374] Chr13:100515507 [GRCh38]
Chr13:101167761 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.1437A>G (p.Thr479=) single nucleotide variant not provided [RCV000929072] Chr13:100330568 [GRCh38]
Chr13:100982822 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.660C>T (p.Ala220=) single nucleotide variant Propionic acidemia [RCV001277103]|not provided [RCV000897966] Chr13:100257617 [GRCh38]
Chr13:100909871 [GRCh37]
Chr13:13q32.3
likely benign|uncertain significance
NM_000282.4(PCCA):c.1713C>T (p.Thr571=) single nucleotide variant Propionic acidemia [RCV000873155] Chr13:100368541 [GRCh38]
Chr13:101020795 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.1846-43G>C single nucleotide variant not provided [RCV000835754] Chr13:100449209 [GRCh38]
Chr13:101101463 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.832A>G (p.Lys278Glu) single nucleotide variant Propionic acidemia [RCV000817576] Chr13:100268701 [GRCh38]
Chr13:100920955 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.870C>T (p.Cys290=) single nucleotide variant Propionic acidemia [RCV001082942]|not provided [RCV000839910] Chr13:100268739 [GRCh38]
Chr13:100920993 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.469-324C>T single nucleotide variant not provided [RCV000829068] Chr13:100209008 [GRCh38]
Chr13:100861262 [GRCh37]
Chr13:13q32.3
benign
NM_000282.4(PCCA):c.1747-161C>T single nucleotide variant not provided [RCV000829071] Chr13:100425472 [GRCh38]
Chr13:101077726 [GRCh37]
Chr13:13q32.3
benign
NM_000282.4(PCCA):c.414+276G>T single nucleotide variant not provided [RCV000832493] Chr13:100155368 [GRCh38]
Chr13:100807622 [GRCh37]
Chr13:13q32.3
benign
NM_000282.4(PCCA):c.415-132T>A single nucleotide variant not provided [RCV000836412] Chr13:100157155 [GRCh38]
Chr13:100809409 [GRCh37]
Chr13:13q32.3
benign
NM_000282.4(PCCA):c.468+148G>T single nucleotide variant not provided [RCV000836413] Chr13:100157488 [GRCh38]
Chr13:100809742 [GRCh37]
Chr13:13q32.3
benign
NC_000013.11:g.(?_100330541)_(100368594_?)del deletion Propionic acidemia [RCV000805915] Chr13:100330541..100368594 [GRCh38]
Chr13:100982795..101020848 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.803G>A (p.Arg268His) single nucleotide variant Propionic acidemia [RCV000791805] Chr13:100262815 [GRCh38]
Chr13:100915069 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser) single nucleotide variant Propionic acidemia [RCV000810903] Chr13:100301587 [GRCh38]
Chr13:100953841 [GRCh37]
Chr13:13q32.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000282.4(PCCA):c.2040+242G>T single nucleotide variant not provided [RCV000843514] Chr13:100515809 [GRCh38]
Chr13:101168063 [GRCh37]
Chr13:13q32.3
benign
NM_000282.4(PCCA):c.2118+191G>C single nucleotide variant not provided [RCV000843518] Chr13:100527943 [GRCh38]
Chr13:101180197 [GRCh37]
Chr13:13q32.3
benign
NM_000282.4(PCCA):c.2119-204A>G single nucleotide variant not provided [RCV000843525] Chr13:100529894 [GRCh38]
Chr13:101182148 [GRCh37]
Chr13:13q32.3
benign
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys) single nucleotide variant Propionic acidemia [RCV000800267] Chr13:100257645 [GRCh38]
Chr13:100909899 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.1846-273A>G single nucleotide variant not provided [RCV000833453] Chr13:100448979 [GRCh38]
Chr13:101101233 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.1195C>T (p.Arg399Trp) single nucleotide variant Propionic acidemia [RCV000820501] Chr13:100301589 [GRCh38]
Chr13:100953843 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.1408C>T (p.Leu470=) single nucleotide variant not provided [RCV000976548] Chr13:100309887 [GRCh38]
Chr13:100962141 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.914+46TTCA[3] microsatellite not provided [RCV000836223] Chr13:100268829..100268840 [GRCh38]
Chr13:100921083..100921094 [GRCh37]
Chr13:13q32.3
benign
GRCh37/hg19 13q32.3(chr13:101112100-101651091)x3 copy number gain not provided [RCV000848968] Chr13:101112100..101651091 [GRCh37]
Chr13:13q32.3
uncertain significance
GRCh37/hg19 13q32.3(chr13:100934274-101069066)x1 copy number loss not provided [RCV000847652] Chr13:100934274..101069066 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.24_46dup (p.Arg16fs) duplication Propionic acidemia [RCV000816716] Chr13:100089139..100089140 [GRCh38]
Chr13:100741393..100741394 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.524G>A (p.Gly175Asp) single nucleotide variant Propionic acidemia [RCV000790485] Chr13:100209387 [GRCh38]
Chr13:100861641 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.734C>G (p.Ser245Ter) single nucleotide variant Propionic acidemia [RCV000790487] Chr13:100262746 [GRCh38]
Chr13:100915000 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.869G>A (p.Cys290Tyr) single nucleotide variant Propionic acidemia [RCV000790489] Chr13:100268738 [GRCh38]
Chr13:100920992 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.872C>T (p.Ser291Leu) single nucleotide variant Propionic acidemia [RCV000790490] Chr13:100268741 [GRCh38]
Chr13:100920995 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.1075_1077del (p.Pro359del) deletion Propionic acidemia [RCV000790492] Chr13:100301468..100301470 [GRCh38]
Chr13:100953722..100953724 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.1920del (p.Arg641fs) deletion Propionic acidemia [RCV000790494] Chr13:100515446 [GRCh38]
Chr13:101167700 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.1747-113G>A single nucleotide variant not provided [RCV000835565] Chr13:100425520 [GRCh38]
Chr13:101077774 [GRCh37]
Chr13:13q32.3
benign
NM_000282.4(PCCA):c.1846-104C>G single nucleotide variant not provided [RCV000835657] Chr13:100449148 [GRCh38]
Chr13:101101402 [GRCh37]
Chr13:13q32.3
benign
NM_000282.4(PCCA):c.600+325T>A single nucleotide variant not provided [RCV000832433] Chr13:100209788 [GRCh38]
Chr13:100862042 [GRCh37]
Chr13:13q32.3
benign
NM_000282.4(PCCA):c.862_863AG[2] (p.Glu289fs) microsatellite Propionic acidemia [RCV000821624] Chr13:100268731..100268732 [GRCh38]
Chr13:100920985..100920986 [GRCh37]
Chr13:13q32.3
pathogenic
GRCh37/hg19 13q32.3(chr13:100964141-100996801)x1 copy number loss not provided [RCV000848544] Chr13:100964141..100996801 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.556A>T (p.Lys186Ter) single nucleotide variant Propionic acidemia [RCV001058543] Chr13:100209419 [GRCh38]
Chr13:100861673 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.638-5G>A single nucleotide variant Propionic acidemia [RCV001115046] Chr13:100257590 [GRCh38]
Chr13:100909844 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.300+300T>C single nucleotide variant not provided [RCV000828603] Chr13:100112361 [GRCh38]
Chr13:100764615 [GRCh37]
Chr13:13q32.3
benign
NM_000282.4(PCCA):c.904G>C (p.Glu302Gln) single nucleotide variant Propionic acidemia [RCV001049142] Chr13:100268773 [GRCh38]
Chr13:100921027 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.2041-1G>T single nucleotide variant Propionic acidemia [RCV000802701] Chr13:100527674 [GRCh38]
Chr13:101179928 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.24A>T (p.Thr8=) single nucleotide variant Propionic acidemia [RCV000941849] Chr13:100089144 [GRCh38]
Chr13:100741398 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.105+273G>A single nucleotide variant not provided [RCV000843491] Chr13:100089498 [GRCh38]
Chr13:100741752 [GRCh37]
Chr13:13q32.3
benign
NM_000282.4(PCCA):c.184-305T>C single nucleotide variant not provided [RCV000843495] Chr13:100111536 [GRCh38]
Chr13:100763790 [GRCh37]
Chr13:13q32.3
benign
NM_000282.4(PCCA):c.2040+172C>T single nucleotide variant not provided [RCV000843502] Chr13:100515739 [GRCh38]
Chr13:101167993 [GRCh37]
Chr13:13q32.3
benign
NM_000282.4(PCCA):c.468+211A>G single nucleotide variant not provided [RCV000829062] Chr13:100157551 [GRCh38]
Chr13:100809805 [GRCh37]
Chr13:13q32.3
benign
NM_000282.4(PCCA):c.332_333GT[1] (p.Val112fs) microsatellite Propionic acidemia [RCV000790484] Chr13:100155009..100155010 [GRCh38]
Chr13:100807263..100807264 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.683G>T (p.Gly228Val) single nucleotide variant Propionic acidemia [RCV000790486] Chr13:100257640 [GRCh38]
Chr13:100909894 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.2159_2162dup (p.Asp722fs) duplication Propionic acidemia [RCV000790496] Chr13:100530136..100530137 [GRCh38]
Chr13:101182390..101182391 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.131delinsATT (p.Cys44fs) indel Propionic acidemia [RCV000790508] Chr13:100102908 [GRCh38]
Chr13:100755162 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.1919C>G (p.Thr640Ser) single nucleotide variant Propionic acidemia [RCV000822736] Chr13:100515446 [GRCh38]
Chr13:101167700 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.2T>A (p.Met1Lys) single nucleotide variant Propionic acidemia [RCV000790481] Chr13:100089122 [GRCh38]
Chr13:100741376 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.803G>T (p.Arg268Leu) single nucleotide variant Propionic acidemia [RCV000790488] Chr13:100262815 [GRCh38]
Chr13:100915069 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.2077A>T (p.Met693Leu) single nucleotide variant Propionic acidemia [RCV000790495] Chr13:100527711 [GRCh38]
Chr13:101179965 [GRCh37]
Chr13:13q32.3
likely pathogenic
NM_000282.4(PCCA):c.1089C>T (p.Cys363=) single nucleotide variant not provided [RCV000977215] Chr13:100301483 [GRCh38]
Chr13:100953737 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.2001C>T (p.Pro667=) single nucleotide variant not provided [RCV000979503] Chr13:100515528 [GRCh38]
Chr13:101167782 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.1746+98T>A single nucleotide variant not provided [RCV000835311] Chr13:100368672 [GRCh38]
Chr13:101020926 [GRCh37]
Chr13:13q32.3
benign
NC_000013.11:g.(?_100111831)_(100112071_?)del deletion Propionic acidemia [RCV000805285] Chr13:100111831..100112071 [GRCh38]
Chr13:100764085..100764325 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.414+88A>G single nucleotide variant not provided [RCV000835630] Chr13:100155180 [GRCh38]
Chr13:100807434 [GRCh37]
Chr13:13q32.3
benign
NM_000282.4(PCCA):c.414+104C>T single nucleotide variant not provided [RCV000835631] Chr13:100155196 [GRCh38]
Chr13:100807450 [GRCh37]
Chr13:13q32.3
benign
NC_000013.11:g.(?_100111821)_(100112081_?)del deletion Propionic acidemia [RCV000809987] Chr13:100111821..100112081 [GRCh38]
Chr13:100764075..100764335 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.1065+1G>C single nucleotide variant Propionic acidemia [RCV001068159] Chr13:100273347 [GRCh38]
Chr13:100925601 [GRCh37]
Chr13:13q32.3
likely pathogenic
NC_000013.11:g.(?_100527655)_(100530186_?)del deletion Propionic acidemia [RCV001032375] Chr13:101179909..101182440 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.451G>T (p.Glu151Ter) single nucleotide variant Propionic acidemia [RCV001054472] Chr13:100157323 [GRCh38]
Chr13:100809577 [GRCh37]
Chr13:13q32.3
pathogenic
GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3 copy number gain not provided [RCV000848025] Chr13:61775567..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3 copy number gain not provided [RCV000847710] Chr13:94849303..115107733 [GRCh37]
Chr13:13q31.3-34
uncertain significance
GRCh37/hg19 13q32.3(chr13:100934274-101067851)x1 copy number loss not provided [RCV000849374] Chr13:100934274..101067851 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.1994dup (p.Met666fs) duplication Propionic acidemia [RCV000989155] Chr13:100515517..100515518 [GRCh38]
Chr13:101167771..101167772 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.1702A>G (p.Lys568Glu) single nucleotide variant Propionic acidemia [RCV001112173] Chr13:100368530 [GRCh38]
Chr13:101020784 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.1404T>G (p.Asp468Glu) single nucleotide variant Propionic acidemia [RCV001111728] Chr13:100309883 [GRCh38]
Chr13:100962137 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.2101G>C (p.Ala701Pro) single nucleotide variant Propionic acidemia [RCV001037015] Chr13:100527735 [GRCh38]
Chr13:101179989 [GRCh37]
Chr13:13q32.3
uncertain significance
GRCh37/hg19 13q32.3(chr13:100955214-101068723)x1 copy number loss not provided [RCV001006593] Chr13:100955214..101068723 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.1275T>G (p.His425Gln) single nucleotide variant Propionic acidemia [RCV001243177] Chr13:100302989 [GRCh38]
Chr13:100955243 [GRCh37]
Chr13:13q32.3
uncertain significance
GRCh37/hg19 13q32.3(chr13:100934274-101069066)x1 copy number loss not provided [RCV000847017] Chr13:100934274..101069066 [GRCh37]
Chr13:13q32.3
pathogenic
NM_000282.4(PCCA):c.943G>A (p.Ala315Thr) single nucleotide variant Propionic acidemia [RCV001109404] Chr13:100273224 [GRCh38]
Chr13:100925478 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.1047A>T (p.Glu349Asp) single nucleotide variant Propionic acidemia [RCV001109406] Chr13:100273328 [GRCh38]
Chr13:100925582 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.1175A>G (p.Asn392Ser) single nucleotide variant Propionic acidemia [RCV001109407] Chr13:100301569 [GRCh38]
Chr13:100953823 [GRCh37]
Chr13:13q32.3
uncertain significance
NM_000282.4(PCCA):c.564G>A (p.Glu188=) single nucleotide variant not provided [RCV000977408] Chr13:100209427 [GRCh38]
Chr13:100861681 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.567T>C (p.Val189=) single nucleotide variant not provided [RCV000975608] Chr13:100209430 [GRCh38]
Chr13:100861684 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.1929C>T (p.Ala643=) single nucleotide variant Propionic acidemia [RCV000910725] Chr13:100515456 [GRCh38]
Chr13:101167710 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.490A>G (p.Ile164Val) single nucleotide variant Propionic acidemia [RCV000920220] Chr13:100209353 [GRCh38]
Chr13:100861607 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.1002C>T (p.Thr334=) single nucleotide variant Propionic acidemia [RCV000916315] Chr13:100273283 [GRCh38]
Chr13:100925537 [GRCh37]
Chr13:13q32.3
likely benign
NM_000282.4(PCCA):c.1350A>G