PCCB (propionyl-CoA carboxylase subunit beta) - Rat Genome Database

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Gene: PCCB (propionyl-CoA carboxylase subunit beta) Homo sapiens
Analyze
Symbol: PCCB
Name: propionyl-CoA carboxylase subunit beta
RGD ID: 731965
HGNC Page HGNC
Description: Enables propionyl-CoA carboxylase activity. Predicted to be involved in short-chain fatty acid catabolic process. Located in mitochondrial matrix. Implicated in amino acid metabolic disorder and propionic acidemia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp451E113; PCCase subunit beta; propanoyl-CoA:carbon dioxide ligase subunit beta; propionyl CoA carboxylase, beta polypeptide; propionyl Coenzyme A carboxylase, beta polypeptide; propionyl-CoA carboxylase beta chain, mitochondrial; propionyl-CoA carboxylase beta 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 Ensembl3136,250,340 - 136,337,896 (+)EnsemblGRCh38hg38GRCh38
GRCh383136,250,340 - 136,330,169 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373135,969,182 - 136,049,011 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363137,451,857 - 137,531,701 (+)NCBINCBI36hg18NCBI36
Build 343137,451,845 - 137,531,703NCBI
Celera3134,394,227 - 134,474,215 (+)NCBI
Cytogenetic Map3q22.3NCBI
HuRef3133,346,299 - 133,425,999 (+)NCBIHuRef
CHM1_13135,932,709 - 136,012,564 (+)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

Molecular Function

References

Additional References at PubMed
PMID:240144   PMID:2154743   PMID:2587127   PMID:2895916   PMID:3460076   PMID:6245185   PMID:6765947   PMID:7092804   PMID:8125298   PMID:8188292   PMID:8225321   PMID:9683601  
PMID:10447268   PMID:10502773   PMID:11749052   PMID:12007220   PMID:12189489   PMID:12477932   PMID:12559849   PMID:12757933   PMID:14671302   PMID:15059621   PMID:15489334   PMID:16023992  
PMID:16344560   PMID:17051315   PMID:18457437   PMID:18678647   PMID:19380743   PMID:19913121   PMID:19936222   PMID:20031576   PMID:20186120   PMID:20628086   PMID:20725044   PMID:20877624  
PMID:20881960   PMID:21532586   PMID:21642987   PMID:21873635   PMID:22199357   PMID:22593918   PMID:22658674   PMID:23969696   PMID:24244333   PMID:24863100   PMID:24981860   PMID:25056061  
PMID:25071155   PMID:25147182   PMID:25315684   PMID:25636094   PMID:26186194   PMID:26344197   PMID:26830710   PMID:27182664   PMID:27227689   PMID:27825584   PMID:28514442   PMID:28533407  
PMID:28718761   PMID:29117863   PMID:29229926   PMID:29509190   PMID:30021884   PMID:30274917   PMID:30349055   PMID:30463901   PMID:30575818   PMID:30997501   PMID:31152661   PMID:31536960  
PMID:31560077   PMID:31903119   PMID:31995728   PMID:32296183   PMID:32908313   PMID:33127324   PMID:33725819   PMID:33798502   PMID:33845483   PMID:33923806  


Genomics

Comparative Map Data
PCCB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3136,250,340 - 136,337,896 (+)EnsemblGRCh38hg38GRCh38
GRCh383136,250,340 - 136,330,169 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373135,969,182 - 136,049,011 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363137,451,857 - 137,531,701 (+)NCBINCBI36hg18NCBI36
Build 343137,451,845 - 137,531,703NCBI
Celera3134,394,227 - 134,474,215 (+)NCBI
Cytogenetic Map3q22.3NCBI
HuRef3133,346,299 - 133,425,999 (+)NCBIHuRef
CHM1_13135,932,709 - 136,012,564 (+)NCBICHM1_1
Pccb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399100,864,085 - 100,916,993 (-)NCBIGRCm39mm39
GRCm39 Ensembl9100,864,085 - 100,916,951 (-)Ensembl
GRCm389100,982,032 - 101,034,940 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9100,982,032 - 101,034,898 (-)EnsemblGRCm38mm10GRCm38
MGSCv379100,882,457 - 100,935,294 (-)NCBIGRCm37mm9NCBIm37
MGSCv369100,791,390 - 100,844,227 (-)NCBImm8
Celera9100,520,833 - 100,575,235 (-)NCBICelera
Cytogenetic Map9E4NCBI
Pccb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.28101,591,218 - 101,641,213 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl8101,590,737 - 101,641,234 (-)Ensembl
Rnor_6.08109,368,887 - 109,418,871 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8109,368,624 - 109,418,872 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08108,785,668 - 108,836,131 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48105,946,482 - 105,996,472 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.18105,965,673 - 106,015,928 (-)NCBI
Celera8100,982,344 - 101,032,252 (-)NCBICelera
Cytogenetic Map8q31NCBI
Pccb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555012,474,330 - 2,563,837 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555012,474,330 - 2,563,107 (-)NCBIChiLan1.0ChiLan1.0
PCCB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13140,768,319 - 140,845,972 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3140,768,319 - 140,849,270 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03133,304,472 - 133,382,664 (+)NCBIMhudiblu_PPA_v0panPan3
PCCB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12332,689,732 - 32,782,204 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2332,687,839 - 32,836,366 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2332,674,600 - 32,767,066 (+)NCBI
ROS_Cfam_1.02333,218,542 - 33,311,304 (+)NCBI
UMICH_Zoey_3.12332,901,613 - 32,994,062 (+)NCBI
UNSW_CanFamBas_1.02332,968,904 - 33,061,334 (+)NCBI
UU_Cfam_GSD_1.02333,212,801 - 33,305,014 (+)NCBI
Pccb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560272,346,028 - 72,405,814 (+)NCBI
SpeTri2.0NW_0049365299,106,525 - 9,166,311 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PCCB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1377,217,428 - 77,317,497 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11377,217,481 - 77,314,779 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21384,587,489 - 84,684,642 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PCCB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11554,110,014 - 54,198,405 (-)NCBI
ChlSab1.1 Ensembl1554,108,389 - 54,198,329 (-)Ensembl
Vero_WHO_p1.0NW_02366604127,159,277 - 27,253,677 (-)NCBI
Pccb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473012,662,419 - 12,811,112 (+)NCBI

Position Markers
RH94340  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373136,056,054 - 136,056,195UniSTSGRCh37
Build 363137,538,744 - 137,538,885RGDNCBI36
Celera3134,481,256 - 134,481,397RGD
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q21-q22UniSTS
HuRef3133,433,041 - 133,433,182UniSTS
GeneMap99-GB4 RH Map3486.35UniSTS
RH103203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373136,055,226 - 136,055,350UniSTSGRCh37
Build 363137,537,916 - 137,538,040RGDNCBI36
Celera3134,480,428 - 134,480,552RGD
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q21-q22UniSTS
HuRef3133,432,217 - 133,432,341UniSTS
GeneMap99-GB4 RH Map3486.35UniSTS
WI-15777  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373136,051,278 - 136,051,405UniSTSGRCh37
Build 363137,533,968 - 137,534,095RGDNCBI36
Celera3134,476,480 - 134,476,607RGD
Cytogenetic Map3q21-q22UniSTS
HuRef3133,428,269 - 133,428,396UniSTS
GeneMap99-GB4 RH Map3484.52UniSTS
Whitehead-RH Map3628.6UniSTS
NCBI RH Map31200.8UniSTS
A009F46  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373136,056,317 - 136,056,459UniSTSGRCh37
Build 363137,539,007 - 137,539,149RGDNCBI36
Celera3134,481,519 - 134,481,661RGD
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q21-q22UniSTS
HuRef3133,433,304 - 133,433,446UniSTS
GeneMap99-GB4 RH Map3484.74UniSTS
NCBI RH Map31200.8UniSTS
SHGC-64944  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373136,055,101 - 136,055,206UniSTSGRCh37
Build 363137,537,791 - 137,537,896RGDNCBI36
Celera3134,480,303 - 134,480,408RGD
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q21-q22UniSTS
HuRef3133,432,092 - 133,432,197UniSTS
TNG Radiation Hybrid Map378052.0UniSTS
SHGC-54603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373136,055,992 - 136,056,195UniSTSGRCh37
Build 363137,538,682 - 137,538,885RGDNCBI36
Celera3134,481,194 - 134,481,397RGD
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q21-q22UniSTS
HuRef3133,432,979 - 133,433,182UniSTS
TNG Radiation Hybrid Map378052.0UniSTS
GDB:375691  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q21-q22UniSTS
GDB:631802  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p35.3-p33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map3q21-q22UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map2q21UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map20p11.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map2p24.1UniSTS
G32517  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373136,056,317 - 136,056,459UniSTSGRCh37
Celera3134,481,519 - 134,481,661UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q21-q22UniSTS
HuRef3133,433,304 - 133,433,446UniSTS
GDB:375677  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q21-q22UniSTS
GDB:375685  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q21-q22UniSTS
GDB:375688  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q21-q22UniSTS
GDB:375697  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q21-q22UniSTS
MARC_10213-10214:997278182:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373135,974,759 - 135,975,438UniSTSGRCh37
Celera3134,399,819 - 134,400,498UniSTS
HuRef3133,351,892 - 133,352,571UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5788
Count of miRNA genes:1294
Interacting mature miRNAs:1665
Transcripts:ENST00000251654, ENST00000459873, ENST00000462542, ENST00000462637, ENST00000465176, ENST00000465423, ENST00000466072, ENST00000468777, ENST00000469217, ENST00000471595, ENST00000473073, ENST00000474833, ENST00000475214, ENST00000478469, ENST00000482086, ENST00000483687, ENST00000484181, ENST00000490504, ENST00000494742
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 670 676 1218 411 716 407 1591 939 1355 286 788 886 20 1 289 1009 5 2
Low 1769 2299 508 213 1230 58 2766 1247 2379 132 672 727 155 915 1779 1
Below cutoff 16 5 11 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC069524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF217984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI191766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL831978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY399219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA090969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU951140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M31167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M31169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S67325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X73424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000251654   ⟹   ENSP00000251654
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3136,250,340 - 136,330,169 (+)Ensembl
RefSeq Acc Id: ENST00000459873   ⟹   ENSP00000419293
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3136,255,318 - 136,283,943 (+)Ensembl
RefSeq Acc Id: ENST00000462542   ⟹   ENSP00000419563
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3136,251,243 - 136,283,914 (+)Ensembl
RefSeq Acc Id: ENST00000462637   ⟹   ENSP00000420391
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3136,250,355 - 136,330,169 (+)Ensembl
RefSeq Acc Id: ENST00000465176
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3136,255,857 - 136,283,901 (+)Ensembl
RefSeq Acc Id: ENST00000465423   ⟹   ENSP00000419263
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3136,250,369 - 136,262,010 (+)Ensembl
RefSeq Acc Id: ENST00000466072   ⟹   ENSP00000420158
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3136,250,355 - 136,330,169 (+)Ensembl
RefSeq Acc Id: ENST00000468777   ⟹   ENSP00000419129
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3136,250,355 - 136,330,169 (+)Ensembl
RefSeq Acc Id: ENST00000469217   ⟹   ENSP00000419027
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3136,250,359 - 136,330,170 (+)Ensembl
RefSeq Acc Id: ENST00000471595   ⟹   ENSP00000417549
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3136,250,358 - 136,337,895 (+)Ensembl
RefSeq Acc Id: ENST00000473073
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3136,260,150 - 136,330,169 (+)Ensembl
RefSeq Acc Id: ENST00000474833
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3136,250,391 - 136,327,731 (+)Ensembl
RefSeq Acc Id: ENST00000475214
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3136,255,321 - 136,327,093 (+)Ensembl
RefSeq Acc Id: ENST00000478469   ⟹   ENSP00000420759
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3136,250,375 - 136,337,896 (+)Ensembl
RefSeq Acc Id: ENST00000482086   ⟹   ENSP00000417253
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3136,250,355 - 136,330,169 (+)Ensembl
RefSeq Acc Id: ENST00000483687   ⟹   ENSP00000420639
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3136,250,355 - 136,330,169 (+)Ensembl
RefSeq Acc Id: ENST00000484181   ⟹   ENSP00000417937
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3136,250,355 - 136,330,169 (+)Ensembl
RefSeq Acc Id: ENST00000490504   ⟹   ENSP00000418307
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3136,250,355 - 136,330,169 (+)Ensembl
RefSeq Acc Id: ENST00000494742   ⟹   ENSP00000418020
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3136,255,307 - 136,262,025 (+)Ensembl
RefSeq Acc Id: NM_000532   ⟹   NP_000523
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383136,250,340 - 136,330,169 (+)NCBI
GRCh373135,969,167 - 136,056,737 (+)NCBI
Build 363137,451,857 - 137,531,701 (+)NCBI Archive
HuRef3133,346,299 - 133,425,999 (+)ENTREZGENE
CHM1_13135,932,709 - 136,012,564 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001178014   ⟹   NP_001171485
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383136,250,340 - 136,330,169 (+)NCBI
GRCh373135,969,167 - 136,056,737 (+)NCBI
HuRef3133,346,299 - 133,425,999 (+)ENTREZGENE
CHM1_13135,932,709 - 136,012,564 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011512873   ⟹   XP_011511175
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383136,250,340 - 136,326,414 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001171485   ⟸   NM_001178014
- Peptide Label: isoform 2 precursor
- UniProtKB: P05166 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000523   ⟸   NM_000532
- Peptide Label: isoform 1 precursor
- UniProtKB: P05166 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011511175   ⟸   XM_011512873
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000420391   ⟸   ENST00000462637
RefSeq Acc Id: ENSP00000420759   ⟸   ENST00000478469
RefSeq Acc Id: ENSP00000418307   ⟸   ENST00000490504
RefSeq Acc Id: ENSP00000419263   ⟸   ENST00000465423
RefSeq Acc Id: ENSP00000420158   ⟸   ENST00000466072
RefSeq Acc Id: ENSP00000419129   ⟸   ENST00000468777
RefSeq Acc Id: ENSP00000419027   ⟸   ENST00000469217
RefSeq Acc Id: ENSP00000418020   ⟸   ENST00000494742
RefSeq Acc Id: ENSP00000417253   ⟸   ENST00000482086
RefSeq Acc Id: ENSP00000420639   ⟸   ENST00000483687
RefSeq Acc Id: ENSP00000419293   ⟸   ENST00000459873
RefSeq Acc Id: ENSP00000417937   ⟸   ENST00000484181
RefSeq Acc Id: ENSP00000417549   ⟸   ENST00000471595
RefSeq Acc Id: ENSP00000419563   ⟸   ENST00000462542
RefSeq Acc Id: ENSP00000251654   ⟸   ENST00000251654
Promoters
RGD ID:6865772
Promoter ID:EPDNEW_H6051
Type:initiation region
Name:PCCB_1
Description:propionyl-CoA carboxylase beta subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383136,250,352 - 136,250,412EPDNEW
RGD ID:6801395
Promoter ID:HG_KWN:46285
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000532,   NM_001178014,   UC003EQZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363137,451,799 - 137,452,299 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000532.5(PCCB):c.183+7C>G single nucleotide variant Propionic acidemia [RCV000532148] Chr3:136250565 [GRCh38]
Chr3:135969407 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.617A>G (p.Tyr206Cys) single nucleotide variant Propionic acidemia [RCV000305073]|not provided [RCV000726366] Chr3:136283910 [GRCh38]
Chr3:136002752 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) single nucleotide variant Propionic acidemia [RCV000012791] Chr3:136327184 [GRCh38]
Chr3:136046026 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic
PCCB, 8-BP DEL, NT3 deletion Propionic acidemia [RCV000012792] Chr3:3q21-q22 pathogenic
PCCB, 14-BP DEL, 12-BP INS, NT1218 indel Propionic acidemia [RCV000012793] Chr3:3q21-q22 pathogenic
NM_000532.5(PCCB):c.1173dup (p.Val392fs) duplication Propionic acidemia [RCV000012794]|not provided [RCV001576958] Chr3:136326881..136326882 [GRCh38]
Chr3:136045723..136045724 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.654+462A>G single nucleotide variant Propionic acidemia [RCV000012799] Chr3:136284409 [GRCh38]
Chr3:136003251 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.1498+8A>G single nucleotide variant Propionic acidemia [RCV001494121] Chr3:136328865 [GRCh38]
Chr3:136047707 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys) single nucleotide variant Propionic acidemia [RCV000012795] Chr3:136262024 [GRCh38]
Chr3:135980866 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile) single nucleotide variant Propionic acidemia [RCV000012796] Chr3:136327239 [GRCh38]
Chr3:136046081 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.1538_1540dup (p.Arg514_Ile515insPro) duplication Propionic acidemia [RCV000012797] Chr3:136329943..136329944 [GRCh38]
Chr3:136048785..136048786 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) single nucleotide variant Propionic acidemia [RCV000012798] Chr3:136327638 [GRCh38]
Chr3:136046480 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) indel Propionic acidemia [RCV000032124]|not provided [RCV000370248] Chr3:136327174..136327187 [GRCh38]
Chr3:136046016..136046029 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.4(PCCB):c.1228C>T (p.Arg410Trp) single nucleotide variant Propionic acidemia [RCV000032125] Chr3:136327184 [GRCh38]
Chr3:136046026 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) single nucleotide variant Propionic acidemia [RCV000032126]|not provided [RCV001529929]|not specified [RCV000429729] Chr3:136328849 [GRCh38]
Chr3:136047691 [GRCh37]
Chr3:3q22.3
benign|likely benign
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter) single nucleotide variant Propionic acidemia [RCV000032127]|not provided [RCV001090670] Chr3:136328854 [GRCh38]
Chr3:136047696 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys) single nucleotide variant Propionic acidemia [RCV000032128]|not provided [RCV001090671] Chr3:136329940 [GRCh38]
Chr3:136048782 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro) single nucleotide variant Propionic acidemia [RCV000032129] Chr3:136329962 [GRCh38]
Chr3:136048804 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp) single nucleotide variant Propionic acidemia [RCV000032130]|not provided [RCV000790698] Chr3:136330012 [GRCh38]
Chr3:136048854 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic
NM_000532.5(PCCB):c.280G>T (p.Gly94Ter) single nucleotide variant Propionic acidemia [RCV000032131] Chr3:136255952 [GRCh38]
Chr3:135974794 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.335G>A (p.Gly112Asp) single nucleotide variant Propionic acidemia [RCV000032132] Chr3:136256586 [GRCh38]
Chr3:135975428 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.457G>C (p.Ala153Pro) single nucleotide variant Propionic acidemia [RCV000032133] Chr3:136261979 [GRCh38]
Chr3:135980821 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.862G>A (p.Val288Ile) single nucleotide variant Propionic acidemia [RCV000032134] Chr3:136298050 [GRCh38]
Chr3:136016892 [GRCh37]
Chr3:3q22.3
likely pathogenic|benign
GRCh38/hg38 3q22.1-23(chr3:132690641-141064444)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051570]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051570]|See cases [RCV000051570] Chr3:132690641..141064444 [GRCh38]
Chr3:132409485..140783286 [GRCh37]
Chr3:133892175..142265976 [NCBI36]
Chr3:3q22.1-23
pathogenic
GRCh38/hg38 3q22.1-22.3(chr3:132972567-136894498)x1 copy number loss See cases [RCV000051571] Chr3:132972567..136894498 [GRCh38]
Chr3:132691411..136613340 [GRCh37]
Chr3:134174101..138096030 [NCBI36]
Chr3:3q22.1-22.3
pathogenic
GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1 copy number loss See cases [RCV000051572] Chr3:135227451..145870770 [GRCh38]
Chr3:134946293..145588557 [GRCh37]
Chr3:136428983..147071247 [NCBI36]
Chr3:3q22.2-24
pathogenic
Single allele duplication Propionic acidemia [RCV000173704] Chr3:136035806..136035807 [GRCh37] pathogenic
NM_000532.5(PCCB):c.183+1G>A single nucleotide variant not provided [RCV000173154] Chr3:136250559 [GRCh38]
Chr3:135969401 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.183+3G>C single nucleotide variant not provided [RCV000079092] Chr3:136250561 [GRCh38]
Chr3:135969403 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.2T>A (p.Met1Lys) single nucleotide variant not provided [RCV000173152] Chr3:136250377 [GRCh38]
Chr3:135969219 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.386_387delinsAAC (p.Phe129Ter) indel Propionic acidemia [RCV001247908]|not provided [RCV000178113] Chr3:136260492..136260493 [GRCh38]
Chr3:135979334..135979335 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.3G>A (p.Met1Ile) single nucleotide variant Propionic acidemia [RCV001203595]|not provided [RCV000173153] Chr3:136250378 [GRCh38]
Chr3:135969220 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic
NM_000532.5(PCCB):c.654+20T>C single nucleotide variant Propionic acidemia [RCV001517170]|not provided [RCV000586550]|not specified [RCV000079096] Chr3:136283967 [GRCh38]
Chr3:136002809 [GRCh37]
Chr3:3q22.3
benign
NM_000532.5(PCCB):c.35C>A (p.Ala12Glu) single nucleotide variant Propionic acidemia [RCV001333501] Chr3:136250410 [GRCh38]
Chr3:135969252 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter) single nucleotide variant Propionic acidemia [RCV000668811] Chr3:136256582 [GRCh38]
Chr3:135975424 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic
Single allele indel Propionic acidemia [RCV000174254] Chr3:136046016..136046029 [GRCh37] pathogenic
NM_000532.5(PCCB):c.1398+1G>T single nucleotide variant Propionic acidemia [RCV000174489]|not provided [RCV000724428] Chr3:136327733 [GRCh38]
Chr3:136046575 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic
Single allele indel Propionic acidemia [RCV000178113] Chr3:135979334..135979335 [GRCh37] pathogenic
NM_000532.5(PCCB):c.419_430dup (p.Lys140_Lys143dup) duplication not provided [RCV000178114] Chr3:136260521..136260522 [GRCh38]
Chr3:135979363..135979364 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) single nucleotide variant Propionic acidemia [RCV000179767]|not provided [RCV000413250]|not specified [RCV000507200] Chr3:136293784 [GRCh38]
Chr3:136012626 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000532.5(PCCB):c.23C>T (p.Ala8Val) single nucleotide variant Propionic acidemia [RCV001302827] Chr3:136250398 [GRCh38]
Chr3:135969240 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1027G>C (p.Gly343Arg) single nucleotide variant not provided [RCV000173705] Chr3:136317001 [GRCh38]
Chr3:136035843 [GRCh37]
Chr3:3q22.3
uncertain significance
NG_008939.1:g.883_8934del8052 deletion Propionic acidemia [RCV000171555] Chr3:136246207..136254258 [GRCh38]
Chr3:135965049..135973100 [GRCh37]
Chr3:3q22.3
pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1 copy number loss See cases [RCV000136558] Chr3:129817243..143381624 [GRCh38]
Chr3:129536086..143100466 [GRCh37]
Chr3:131018776..144583156 [NCBI36]
Chr3:3q22.1-24
pathogenic
GRCh38/hg38 3q22.2-22.3(chr3:134824436-136787321)x3 copy number gain See cases [RCV000135983] Chr3:134824436..136787321 [GRCh38]
Chr3:134543278..136506163 [GRCh37]
Chr3:136025968..137988853 [NCBI36]
Chr3:3q22.2-22.3
uncertain significance
GRCh38/hg38 3q22.2-22.3(chr3:135930259-136445332)x3 copy number gain See cases [RCV000138206] Chr3:135930259..136445332 [GRCh38]
Chr3:135649101..136164174 [GRCh37]
Chr3:137131791..137646864 [NCBI36]
Chr3:3q22.2-22.3
uncertain significance
GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1 copy number loss See cases [RCV000138135] Chr3:134257180..149729538 [GRCh38]
Chr3:133976022..149447325 [GRCh37]
Chr3:135458712..150930015 [NCBI36]
Chr3:3q22.2-25.1
pathogenic|likely benign
GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1 copy number loss See cases [RCV000139240] Chr3:130401265..139005019 [GRCh38]
Chr3:130120109..138723861 [GRCh37]
Chr3:131602799..140206551 [NCBI36]
Chr3:3q22.1-23
pathogenic
GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1 copy number loss See cases [RCV000140453] Chr3:134333553..141701458 [GRCh38]
Chr3:134052395..141420300 [GRCh37]
Chr3:135535085..142902990 [NCBI36]
Chr3:3q22.2-23
pathogenic
GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1 copy number loss See cases [RCV000140995] Chr3:129817243..141425155 [GRCh38]
Chr3:129536086..141143997 [GRCh37]
Chr3:131018776..142626687 [NCBI36]
Chr3:3q22.1-23
pathogenic
GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3 copy number gain See cases [RCV000142010] Chr3:126106779..140918089 [GRCh38]
Chr3:125825622..140636931 [GRCh37]
Chr3:127308312..142119621 [NCBI36]
Chr3:3q21.3-23
uncertain significance
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24
pathogenic
GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1 copy number loss See cases [RCV000143634] Chr3:132716978..144784743 [GRCh38]
Chr3:132435822..144503585 [GRCh37]
Chr3:133918512..145986275 [NCBI36]
Chr3:3q22.1-24
pathogenic
NM_000532.5(PCCB):c.990dup (p.Glu331Ter) duplication Propionic acidemia [RCV000173704]|not provided [RCV000153647] Chr3:136316958..136316959 [GRCh38]
Chr3:136035800..136035801 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) single nucleotide variant Propionic acidemia [RCV001083724]|not provided [RCV000441240]|not specified [RCV000186089] Chr3:136250424 [GRCh38]
Chr3:135969266 [GRCh37]
Chr3:3q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) single nucleotide variant Propionic acidemia [RCV000515420]|not provided [RCV000723557]|not specified [RCV000186087] Chr3:136298003 [GRCh38]
Chr3:136016845 [GRCh37]
Chr3:3q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000532.5(PCCB):c.877G>A (p.Asp293Asn) single nucleotide variant not provided [RCV000180174] Chr3:136298065 [GRCh38]
Chr3:136016907 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.895G>T (p.Val299Phe) single nucleotide variant not provided [RCV000180516] Chr3:136301040 [GRCh38]
Chr3:136019882 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.429+7G>A single nucleotide variant Propionic acidemia [RCV000263351]|not specified [RCV000437361] Chr3:136260542 [GRCh38]
Chr3:135979384 [GRCh37]
Chr3:3q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000532.5(PCCB):c.655-2A>G single nucleotide variant Propionic acidemia [RCV001293409] Chr3:136293754 [GRCh38]
Chr3:136012596 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter) single nucleotide variant Propionic acidemia [RCV000341685]|not provided [RCV000186088] Chr3:136301087 [GRCh38]
Chr3:136019929 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic
NM_000532.4(PCCB):c.1202C>A (p.Thr401Lys) single nucleotide variant not provided [RCV000186090] Chr3:136327158 [GRCh38]
Chr3:136046000 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.649dup (p.Val217fs) duplication Propionic acidemia [RCV000984290]|not provided [RCV000186091] Chr3:136283940..136283941 [GRCh38]
Chr3:136002782..136002783 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic
NM_000532.5(PCCB):c.764-2del deletion not provided [RCV000186092] Chr3:136297950 [GRCh38]
Chr3:136016792 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.972TGA[1] (p.Asp325del) microsatellite not provided [RCV000186093] Chr3:136316946..136316948 [GRCh38]
Chr3:136035788..136035790 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala) single nucleotide variant Propionic acidemia [RCV000669412] Chr3:136283856 [GRCh38]
Chr3:136002698 [GRCh37]
Chr3:3q22.3
likely pathogenic|uncertain significance
NM_000532.5(PCCB):c.611C>T (p.Ala204Val) single nucleotide variant Propionic acidemia [RCV000664635] Chr3:136283904 [GRCh38]
Chr3:136002746 [GRCh37]
Chr3:3q22.3
likely pathogenic|uncertain significance
NM_000532.5(PCCB):c.890G>A (p.Arg297His) single nucleotide variant Propionic acidemia [RCV000665472] Chr3:136301035 [GRCh38]
Chr3:136019877 [GRCh37]
Chr3:3q22.3
likely pathogenic|uncertain significance
NM_000532.4(PCCB):c.259G>T (p.Glu87Ter) single nucleotide variant not provided [RCV000186097] Chr3:136255931 [GRCh38]
Chr3:135974773 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.1384G>A (p.Val462Ile) single nucleotide variant not provided [RCV000186098] Chr3:136327718 [GRCh38]
Chr3:136046560 [GRCh37]
Chr3:3q22.3
likely pathogenic|uncertain significance
NM_000532.5(PCCB):c.1300-2A>C single nucleotide variant Propionic acidemia [RCV000669264] Chr3:136327632 [GRCh38]
Chr3:136046474 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.1210G>A (p.Glu404Lys) single nucleotide variant Propionic acidemia [RCV000235547] Chr3:136327166 [GRCh38]
Chr3:136046008 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter) single nucleotide variant Propionic acidemia [RCV000235647] Chr3:136329946 [GRCh38]
Chr3:136048788 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp) single nucleotide variant Propionic acidemia [RCV000236206] Chr3:136262015 [GRCh38]
Chr3:135980857 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic
NM_000532.5(PCCB):c.183+5G>A single nucleotide variant Propionic acidemia [RCV000236355] Chr3:136250563 [GRCh38]
Chr3:135969405 [GRCh37]
Chr3:3q22.3
pathogenic|conflicting interpretations of pathogenicity
NM_000532.5(PCCB):c.372+2T>C single nucleotide variant Propionic acidemia [RCV000236940] Chr3:136256625 [GRCh38]
Chr3:135975467 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic
NM_000532.5(PCCB):c.1498+2T>C single nucleotide variant Propionic acidemia [RCV000237038] Chr3:136328859 [GRCh38]
Chr3:136047701 [GRCh37]
Chr3:3q22.3
pathogenic
GRCh37/hg19 3q22.3-23(chr3:135935129-141867748)x3 copy number gain See cases [RCV000239877] Chr3:135935129..141867748 [GRCh37]
Chr3:3q22.3-23
likely pathogenic
NM_000532.5(PCCB):c.707A>G (p.Asn236Ser) single nucleotide variant Propionic acidemia [RCV000285394] Chr3:136293808 [GRCh38]
Chr3:136012650 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.882C>T (p.Pro294=) single nucleotide variant Propionic acidemia [RCV000281740]|not specified [RCV000439688] Chr3:136298070 [GRCh38]
Chr3:136016912 [GRCh37]
Chr3:3q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000532.5(PCCB):c.967-46A>G single nucleotide variant Propionic acidemia [RCV001543864]|not specified [RCV000243744] Chr3:136316895 [GRCh38]
Chr3:136035737 [GRCh37]
Chr3:3q22.3
benign
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) single nucleotide variant Propionic acidemia [RCV000613658]|not provided [RCV000255741] Chr3:136256588 [GRCh38]
Chr3:135975430 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.372+31T>C single nucleotide variant not specified [RCV000242229] Chr3:136256654 [GRCh38]
Chr3:135975496 [GRCh37]
Chr3:3q22.3
benign
NM_000532.5(PCCB):c.544-20T>C single nucleotide variant not specified [RCV000247236] Chr3:136283817 [GRCh38]
Chr3:136002659 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1499-48A>G single nucleotide variant not specified [RCV000252285] Chr3:136329857 [GRCh38]
Chr3:136048699 [GRCh37]
Chr3:3q22.3
benign
NM_000532.5(PCCB):c.555G>C (p.Thr185=) single nucleotide variant Propionic acidemia [RCV000270284] Chr3:136283848 [GRCh38]
Chr3:136002690 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1372G>A (p.Ala458Thr) single nucleotide variant Propionic acidemia [RCV000278033] Chr3:136327706 [GRCh38]
Chr3:136046548 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.263A>G (p.His88Arg) single nucleotide variant Propionic acidemia [RCV000298564] Chr3:136255935 [GRCh38]
Chr3:135974777 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1402G>A (p.Ala468Thr) single nucleotide variant Propionic acidemia [RCV000351767] Chr3:136328761 [GRCh38]
Chr3:136047603 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.865C>T (p.Arg289Cys) single nucleotide variant Propionic acidemia [RCV000376286] Chr3:136298053 [GRCh38]
Chr3:136016895 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1154A>G (p.Asn385Ser) single nucleotide variant Propionic acidemia [RCV000336865]|not provided [RCV000727577] Chr3:136326866 [GRCh38]
Chr3:136045708 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) single nucleotide variant Propionic acidemia [RCV000355728]|not provided [RCV001556201] Chr3:136256589 [GRCh38]
Chr3:135975431 [GRCh37]
Chr3:3q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000532.5(PCCB):c.603T>C (p.Ala201=) single nucleotide variant Propionic acidemia [RCV000379889] Chr3:136283896 [GRCh38]
Chr3:136002738 [GRCh37]
Chr3:3q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001178014.1(PCCB):c.-46A>T single nucleotide variant Propionic acidemia [RCV000287469] Chr3:136250330 [GRCh38]
Chr3:135969172 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.554C>T (p.Thr185Met) single nucleotide variant Propionic acidemia [RCV000359325] Chr3:136283847 [GRCh38]
Chr3:136002689 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.82C>G (p.Leu28Val) single nucleotide variant Propionic acidemia [RCV000405424] Chr3:136250457 [GRCh38]
Chr3:135969299 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.*44C>T single nucleotide variant Propionic acidemia [RCV000406444] Chr3:136330070 [GRCh38]
Chr3:136048912 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.-34G>A single nucleotide variant Propionic acidemia [RCV000291409] Chr3:136250342 [GRCh38]
Chr3:135969184 [GRCh37]
Chr3:3q22.3
likely benign|uncertain significance
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu) single nucleotide variant Propionic acidemia [RCV000321726] Chr3:136298024 [GRCh38]
Chr3:136016866 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.*91C>A single nucleotide variant Propionic acidemia [RCV000308302] Chr3:136330117 [GRCh38]
Chr3:136048959 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser) single nucleotide variant Propionic acidemia [RCV000325301] Chr3:136283888 [GRCh38]
Chr3:136002730 [GRCh37]
Chr3:3q22.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001178014.1(PCCB):c.-37C>T single nucleotide variant Propionic acidemia [RCV000344835]|not specified [RCV000439029] Chr3:136250339 [GRCh38]
Chr3:135969181 [GRCh37]
Chr3:3q22.3
benign|likely benign
NM_000532.5(PCCB):c.45C>T (p.Ser15=) single nucleotide variant Propionic acidemia [RCV000348610] Chr3:136250420 [GRCh38]
Chr3:135969262 [GRCh37]
Chr3:3q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000532.5(PCCB):c.184-12G>T single nucleotide variant Propionic acidemia [RCV000370744]|not provided [RCV000589799]|not specified [RCV000592376] Chr3:136255844 [GRCh38]
Chr3:135974686 [GRCh37]
Chr3:3q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) single nucleotide variant Global developmental delay [RCV000626699]|Propionic acidemia [RCV000392658]|not provided [RCV000859703] Chr3:136328780 [GRCh38]
Chr3:136047622 [GRCh37]
Chr3:3q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000532.5(PCCB):c.1452A>G (p.Ala484=) single nucleotide variant Propionic acidemia [RCV000312229]|not specified [RCV000427679] Chr3:136328811 [GRCh38]
Chr3:136047653 [GRCh37]
Chr3:3q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000532.5(PCCB):c.116T>C (p.Ile39Thr) single nucleotide variant Propionic acidemia [RCV000313553] Chr3:136250491 [GRCh38]
Chr3:135969333 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.184-1G>A single nucleotide variant Propionic acidemia [RCV000353159]|not provided [RCV000726367] Chr3:136255855 [GRCh38]
Chr3:135974697 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic
Single allele single nucleotide variant not provided [RCV001567908] Chr3:136250236 [GRCh38]
Chr3:135969078 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys) single nucleotide variant Propionic acidemia [RCV000490483] Chr3:136327650 [GRCh38]
Chr3:136046492 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic
NM_000532.5(PCCB):c.942C>T (p.Tyr314=) single nucleotide variant Propionic acidemia [RCV001279645] Chr3:136301087 [GRCh38]
Chr3:136019929 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.*128_*132del deletion Propionic acidemia [RCV000363017] Chr3:136330151..136330155 [GRCh38]
Chr3:136048993..136048997 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1520A>G (p.Gln507Arg) single nucleotide variant Propionic acidemia [RCV000348062] Chr3:136329926 [GRCh38]
Chr3:136048768 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.185G>C (p.Gly62Ala) single nucleotide variant Propionic acidemia [RCV000403520] Chr3:136255857 [GRCh38]
Chr3:135974699 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.763+10C>G single nucleotide variant Global developmental delay [RCV000626700]|Propionic acidemia [RCV000634865] Chr3:136293874 [GRCh38]
Chr3:136012716 [GRCh37]
Chr3:3q22.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000532.5(PCCB):c.553del (p.Thr185fs) deletion Propionic acidemia [RCV000320902] Chr3:136283846 [GRCh38]
Chr3:136002688 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1199-8A>G single nucleotide variant Propionic acidemia [RCV000372795] Chr3:136327147 [GRCh38]
Chr3:136045989 [GRCh37]
Chr3:3q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000532.5(PCCB):c.-35G>A single nucleotide variant Propionic acidemia [RCV000392119] Chr3:136250341 [GRCh38]
Chr3:135969183 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1169C>T (p.Thr390Ile) single nucleotide variant not provided [RCV000587255] Chr3:136326881 [GRCh38]
Chr3:136045723 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.4(PCCB):c.1218_1231delGGGCATCATCCGGCins12 (p.?) indel Propionic acidemia [RCV000586342] Chr3:136327174..136327187 [GRCh38]
Chr3:136046016..136046029 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.1090+4G>A single nucleotide variant not specified [RCV000603406] Chr3:136317068 [GRCh38]
Chr3:136035910 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.638del (p.Phe213fs) deletion Propionic acidemia [RCV000531347] Chr3:136283930 [GRCh38]
Chr3:136002772 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.1373C>T (p.Ala458Val) single nucleotide variant Propionic acidemia [RCV000790507] Chr3:136327707 [GRCh38]
Chr3:136046549 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.1228C>A (p.Arg410=) single nucleotide variant Propionic acidemia [RCV000541939] Chr3:136327184 [GRCh38]
Chr3:136046026 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.372+15C>T single nucleotide variant not specified [RCV000423592] Chr3:136256638 [GRCh38]
Chr3:135975480 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1299+9C>A single nucleotide variant Propionic acidemia [RCV000909942]|not specified [RCV000417677] Chr3:136327264 [GRCh38]
Chr3:136046106 [GRCh37]
Chr3:3q22.3
benign|likely benign
NM_000532.5(PCCB):c.24G>T (p.Ala8=) single nucleotide variant Propionic acidemia [RCV000895198]|not specified [RCV000434415] Chr3:136250399 [GRCh38]
Chr3:135969241 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.546G>A (p.Arg182=) single nucleotide variant Propionic acidemia [RCV000552500]|not specified [RCV000435142] Chr3:136283839 [GRCh38]
Chr3:136002681 [GRCh37]
Chr3:3q22.3
benign|likely benign
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr) single nucleotide variant Propionic acidemia [RCV001086397]|not provided [RCV000430877] Chr3:136298060 [GRCh38]
Chr3:136016902 [GRCh37]
Chr3:3q22.3
likely pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_000532.5(PCCB):c.348A>G (p.Gly116=) single nucleotide variant not specified [RCV000433027] Chr3:136256599 [GRCh38]
Chr3:135975441 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1355A>C (p.Asn452Thr) single nucleotide variant not provided [RCV000481266] Chr3:136327689 [GRCh38]
Chr3:136046531 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.163A>G (p.Ile55Val) single nucleotide variant not specified [RCV000506313] Chr3:136250538 [GRCh38]
Chr3:135969380 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.862G>C (p.Val288Leu) single nucleotide variant Propionic acidemia [RCV001061662]|not specified [RCV000507958] Chr3:136298050 [GRCh38]
Chr3:136016892 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.966+1G>T single nucleotide variant Propionic acidemia [RCV000670425] Chr3:136301112 [GRCh38]
Chr3:136019954 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.373-1246G>A single nucleotide variant Propionic acidemia [RCV000626224] Chr3:136259233 [GRCh38]
Chr3:135978075 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.303+19_303+21del microsatellite not specified [RCV000604933] Chr3:136255989..136255991 [GRCh38]
Chr3:135974831..135974833 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.654+3A>C single nucleotide variant Propionic acidemia [RCV000634873] Chr3:136283950 [GRCh38]
Chr3:136002792 [GRCh37]
Chr3:3q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter) single nucleotide variant Propionic acidemia [RCV000672023] Chr3:136250389 [GRCh38]
Chr3:135969231 [GRCh37]
Chr3:3q22.3
likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_000532.5(PCCB):c.544-2A>G single nucleotide variant Propionic acidemia [RCV000672362] Chr3:136283835 [GRCh38]
Chr3:136002677 [GRCh37]
Chr3:3q22.3
likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_000532.5(PCCB):c.885-18C>T single nucleotide variant not specified [RCV000607006] Chr3:136301012 [GRCh38]
Chr3:136019854 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.967-42G>C single nucleotide variant not specified [RCV000594956] Chr3:136316899 [GRCh38]
Chr3:136035741 [GRCh37]
Chr3:3q22.3
benign
NM_000532.5(PCCB):c.763+2T>A single nucleotide variant Propionic acidemia [RCV000672128] Chr3:136293866 [GRCh38]
Chr3:136012708 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.-12G>A single nucleotide variant not specified [RCV000601671] Chr3:136250364 [GRCh38]
Chr3:135969206 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.373-18T>C single nucleotide variant not specified [RCV000607185] Chr3:136260461 [GRCh38]
Chr3:135979303 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.747C>T (p.Thr249=) single nucleotide variant Propionic acidemia [RCV000982883]|not specified [RCV000612748] Chr3:136293848 [GRCh38]
Chr3:136012690 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.654+465T>C single nucleotide variant not specified [RCV000612788] Chr3:136284412 [GRCh38]
Chr3:136003254 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.304-16dup duplication not specified [RCV000612843] Chr3:136256534..136256535 [GRCh38]
Chr3:135975376..135975377 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.764-19A>G single nucleotide variant not specified [RCV000613816] Chr3:136297933 [GRCh38]
Chr3:136016775 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1569C>G (p.Ala523=) single nucleotide variant not specified [RCV000611126] Chr3:136329975 [GRCh38]
Chr3:136048817 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.9G>C (p.Ala3=) single nucleotide variant not specified [RCV000613977] Chr3:136250384 [GRCh38]
Chr3:135969226 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.292_294del (p.Asp98del) deletion Propionic acidemia [RCV000670141] Chr3:136255963..136255965 [GRCh38]
Chr3:135974805..135974807 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1250A>G (p.Tyr417Cys) single nucleotide variant not provided [RCV000513000] Chr3:136327206 [GRCh38]
Chr3:136046048 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) single nucleotide variant Propionic acidemia [RCV000673426] Chr3:136327185 [GRCh38]
Chr3:136046027 [GRCh37]
Chr3:3q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000532.5(PCCB):c.303+8T>A single nucleotide variant Propionic acidemia [RCV001084379]|not provided [RCV000513545] Chr3:136255983 [GRCh38]
Chr3:135974825 [GRCh37]
Chr3:3q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp) single nucleotide variant Propionic acidemia [RCV000634872]|not specified [RCV001193212] Chr3:136262006 [GRCh38]
Chr3:135980848 [GRCh37]
Chr3:3q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000532.5(PCCB):c.654+1G>C single nucleotide variant Propionic acidemia [RCV000673118] Chr3:136283948 [GRCh38]
Chr3:136002790 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.1555_1557dup (p.Leu519dup) duplication Propionic acidemia [RCV000673136] Chr3:136329960..136329961 [GRCh38]
Chr3:136048802..136048803 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.319G>A (p.Val107Met) single nucleotide variant Propionic acidemia [RCV000671409] Chr3:136256570 [GRCh38]
Chr3:135975412 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.487_488dup (p.Ala164fs) duplication Propionic acidemia [RCV000673483] Chr3:136262005..136262006 [GRCh38]
Chr3:135980847..135980848 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser) single nucleotide variant Propionic acidemia [RCV000673510] Chr3:136293864 [GRCh38]
Chr3:136012706 [GRCh37]
Chr3:3q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000532.5(PCCB):c.429+1G>A single nucleotide variant Propionic acidemia [RCV000673514] Chr3:136260536 [GRCh38]
Chr3:135979378 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.763+1G>A single nucleotide variant Propionic acidemia [RCV000671247] Chr3:136293865 [GRCh38]
Chr3:136012707 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.596C>G (p.Pro199Arg) single nucleotide variant Propionic acidemia [RCV000671713] Chr3:136283889 [GRCh38]
Chr3:136002731 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1260dup (p.Glu421Ter) duplication Propionic acidemia [RCV000673464] Chr3:136327215..136327216 [GRCh38]
Chr3:136046057..136046058 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic
NM_000532.5(PCCB):c.196del (p.Ala66fs) deletion Propionic acidemia [RCV000665006] Chr3:136255868 [GRCh38]
Chr3:135974710 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.373-1281G>A single nucleotide variant Propionic acidemia [RCV000673662] Chr3:136259198 [GRCh38]
Chr3:135978040 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1142G>A (p.Cys381Tyr) single nucleotide variant Propionic acidemia [RCV000673667] Chr3:136326854 [GRCh38]
Chr3:136045696 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val) single nucleotide variant Propionic acidemia [RCV000670133] Chr3:136327635 [GRCh38]
Chr3:136046477 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic
GRCh37/hg19 3q22.3(chr3:135805001-137555312)x3 copy number gain not provided [RCV000682306] Chr3:135805001..137555312 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.373-1271del deletion Propionic acidemia [RCV000674102] Chr3:136259207 [GRCh38]
Chr3:135978049 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.555G>A (p.Thr185=) single nucleotide variant Propionic acidemia [RCV000672266] Chr3:136283848 [GRCh38]
Chr3:136002690 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg) single nucleotide variant Propionic acidemia [RCV000674578]|not provided [RCV001268006] Chr3:136283855 [GRCh38]
Chr3:136002697 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu) single nucleotide variant Propionic acidemia [RCV000674584] Chr3:136326839 [GRCh38]
Chr3:136045681 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.373-1243G>A single nucleotide variant Propionic acidemia [RCV000667006] Chr3:136259236 [GRCh38]
Chr3:135978078 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.12_26del (p.Leu5_Ala9del) deletion Propionic acidemia [RCV000667135] Chr3:136250381..136250395 [GRCh38]
Chr3:135969223..135969237 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.184-2A>G single nucleotide variant Propionic acidemia [RCV000667421] Chr3:136255854 [GRCh38]
Chr3:135974696 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.884+1G>C single nucleotide variant Propionic acidemia [RCV000673821] Chr3:136298073 [GRCh38]
Chr3:136016915 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.967-2A>C single nucleotide variant Propionic acidemia [RCV000674427] Chr3:136316939 [GRCh38]
Chr3:136035781 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.1524TTC[1] (p.Ser510del) microsatellite Propionic acidemia [RCV000674448] Chr3:136329929..136329931 [GRCh38]
Chr3:136048771..136048773 [GRCh37]
Chr3:3q22.3
uncertain significance
GRCh37/hg19 3q22.1-22.3(chr3:132642704-136360844)x1 copy number loss Intellectual disability, autosomal dominant 47 [RCV000680253] Chr3:132642704..136360844 [GRCh37]
Chr3:3q22.1-22.3
likely pathogenic
NM_000532.5(PCCB):c.1379_1385del (p.Ile460fs) deletion Propionic acidemia [RCV000674212] Chr3:136327713..136327719 [GRCh38]
Chr3:136046555..136046561 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic
NM_000532.5(PCCB):c.517_518del (p.Leu173fs) deletion Propionic acidemia [RCV000667712] Chr3:136262038..136262039 [GRCh38]
Chr3:135980880..135980881 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln) single nucleotide variant Propionic acidemia [RCV000666130] Chr3:136262016 [GRCh38]
Chr3:135980858 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic
GRCh38/hg38 3q22.2-22.3(chr3:135423479-136961152)x1 copy number loss Intellectual disability, autosomal dominant 47 [RCV000680252] Chr3:135423479..136961152 [GRCh38]
Chr3:135142319..136679992 [GRCh37]
Chr3:3q22.2-22.3
likely pathogenic
GRCh38/hg38 3q22.2-22.3(chr3:135343568-136642002)x1 copy number loss Intellectual disability, autosomal dominant 47 [RCV000680251] Chr3:135343568..136642002 [GRCh38]
Chr3:135062410..136360844 [GRCh37]
Chr3:3q22.2-22.3
likely pathogenic
NM_000532.5(PCCB):c.373-1297_373-1295del microsatellite Propionic acidemia [RCV000667985] Chr3:136259178..136259180 [GRCh38]
Chr3:135978020..135978022 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup) duplication Propionic acidemia [RCV000665243] Chr3:136250376..136250377 [GRCh38]
Chr3:135969218..135969219 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1503del (p.Phe501fs) deletion Propionic acidemia [RCV000672368] Chr3:136329907 [GRCh38]
Chr3:136048749 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.734GTG[1] (p.Gly246del) microsatellite Propionic acidemia [RCV000666396] Chr3:136293834..136293836 [GRCh38]
Chr3:136012676..136012678 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.298_303del (p.Asn100_Lys101del) deletion Propionic acidemia [RCV000668573] Chr3:136255965..136255970 [GRCh38]
Chr3:135974807..135974812 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1090+2T>C single nucleotide variant Propionic acidemia [RCV000668574] Chr3:136317066 [GRCh38]
Chr3:136035908 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.885-2A>G single nucleotide variant Propionic acidemia [RCV000673046] Chr3:136301028 [GRCh38]
Chr3:136019870 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.620C>T (p.Ser207Phe) single nucleotide variant Propionic acidemia [RCV000665706] Chr3:136283913 [GRCh38]
Chr3:136002755 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.601_602insGG (p.Ala201fs) insertion Propionic acidemia [RCV000673131] Chr3:136283893..136283894 [GRCh38]
Chr3:136002735..136002736 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.553dup (p.Thr185fs) duplication Propionic acidemia [RCV000673161] Chr3:136283845..136283846 [GRCh38]
Chr3:136002687..136002688 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.1127G>A (p.Arg376His) single nucleotide variant Propionic acidemia [RCV000674433] Chr3:136326839 [GRCh38]
Chr3:136045681 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.763+3GA[4] microsatellite Propionic acidemia [RCV000665988] Chr3:136293866..136293867 [GRCh38]
Chr3:136012708..136012709 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter) single nucleotide variant Propionic acidemia [RCV000667545] Chr3:136328788 [GRCh38]
Chr3:136047630 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.838dup (p.Leu280fs) duplication Propionic acidemia [RCV000667695] Chr3:136298022..136298023 [GRCh38]
Chr3:136016864..136016865 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic
NM_000532.5(PCCB):c.911C>T (p.Thr304Ile) single nucleotide variant Propionic acidemia [RCV000686636] Chr3:136301056 [GRCh38]
Chr3:136019898 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.825dup (p.Asn276fs) duplication Propionic acidemia [RCV000687152] Chr3:136298012..136298013 [GRCh38]
Chr3:136016854..136016855 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.1570A>G (p.Ser524Gly) single nucleotide variant Propionic acidemia [RCV000706892] Chr3:136329976 [GRCh38]
Chr3:136048818 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.791A>G (p.Asp264Gly) single nucleotide variant Propionic acidemia [RCV000705128] Chr3:136297979 [GRCh38]
Chr3:136016821 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.467T>C (p.Ile156Thr) single nucleotide variant Propionic acidemia [RCV000690991] Chr3:136261989 [GRCh38]
Chr3:135980831 [GRCh37]
Chr3:3q22.3
uncertain significance
Single allele single nucleotide variant not provided [RCV001547352] Chr3:136250221 [GRCh38]
Chr3:135969063 [GRCh37]
Chr3:3q22.3
likely benign
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q22.3(chr3:136020975-136026101)x1 copy number loss not provided [RCV000742816] Chr3:136020975..136026101 [GRCh37]
Chr3:3q22.3
benign
GRCh37/hg19 3q22.3(chr3:136020975-136027769)x3 copy number gain not provided [RCV000742817] Chr3:136020975..136027769 [GRCh37]
Chr3:3q22.3
benign
GRCh37/hg19 3q22.3(chr3:136020975-136056861)x3 copy number gain not provided [RCV000742818] Chr3:136020975..136056861 [GRCh37]
Chr3:3q22.3
benign
GRCh37/hg19 3q22.3(chr3:136021052-136025982)x1 copy number loss not provided [RCV000742819] Chr3:136021052..136025982 [GRCh37]
Chr3:3q22.3
benign
GRCh37/hg19 3q22.3(chr3:136021052-136026101)x0 copy number loss not provided [RCV000742820] Chr3:136021052..136026101 [GRCh37]
Chr3:3q22.3
benign
NM_000532.5(PCCB):c.429+3_429+6del microsatellite Propionic acidemia [RCV001532936] Chr3:136260534..136260537 [GRCh38]
Chr3:135979376..135979379 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.184-49_188delinsTGCTTTGCTTGCTTTGCTTTGCTTT indel Propionic acidemia [RCV000761464] Chr3:136255807..136255860 [GRCh38]
Chr3:135974649..135974702 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.1262A>G (p.Glu421Gly) single nucleotide variant not provided [RCV000762388] Chr3:136327218 [GRCh38]
Chr3:136046060 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1207C>T (p.Gln403Ter) single nucleotide variant Propionic acidemia [RCV000987339] Chr3:136327163 [GRCh38]
Chr3:136046005 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.1090+163_1090+178del deletion not provided [RCV001571362] Chr3:136317213..136317228 [GRCh38]
Chr3:136036055..136036070 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.373-1229T>C single nucleotide variant not provided [RCV001571524] Chr3:136259250 [GRCh38]
Chr3:135978092 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.749A>G (p.His250Arg) single nucleotide variant Propionic acidemia [RCV001055500] Chr3:136293850 [GRCh38]
Chr3:136012692 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.654+29C>T single nucleotide variant not provided [RCV001575313] Chr3:136283976 [GRCh38]
Chr3:136002818 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile) single nucleotide variant Propionic acidemia [RCV000973820]|not provided [RCV001563448] Chr3:136327686 [GRCh38]
Chr3:136046528 [GRCh37]
Chr3:3q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000532.5(PCCB):c.1485T>G (p.Pro495=) single nucleotide variant Propionic acidemia [RCV000924010] Chr3:136328844 [GRCh38]
Chr3:136047686 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.741C>T (p.Ala247=) single nucleotide variant Propionic acidemia [RCV000882610] Chr3:136293842 [GRCh38]
Chr3:136012684 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1371C>T (p.Thr457=) single nucleotide variant Propionic acidemia [RCV000945475]|not provided [RCV001172154] Chr3:136327705 [GRCh38]
Chr3:136046547 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.142C>T (p.Leu48=) single nucleotide variant Propionic acidemia [RCV000924409] Chr3:136250517 [GRCh38]
Chr3:135969359 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.180G>A (p.Lys60=) single nucleotide variant Propionic acidemia [RCV000877066]|not provided [RCV001565080] Chr3:136250555 [GRCh38]
Chr3:135969397 [GRCh37]
Chr3:3q22.3
likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 3q22.2-23(chr3:135186881-140826836)x3 copy number gain not provided [RCV000846949] Chr3:135186881..140826836 [GRCh37]
Chr3:3q22.2-23
uncertain significance
NM_000532.5(PCCB):c.988T>G (p.Phe330Val) single nucleotide variant Propionic acidemia [RCV000809500] Chr3:136316962 [GRCh38]
Chr3:136035804 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1221del (p.Ile408fs) deletion Propionic acidemia [RCV000778677] Chr3:136327177 [GRCh38]
Chr3:136046019 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1226del (p.Ile409fs) deletion Propionic acidemia [RCV000778678] Chr3:136327182 [GRCh38]
Chr3:136046024 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.630A>G (p.Leu210=) single nucleotide variant Propionic acidemia [RCV000876227] Chr3:136283923 [GRCh38]
Chr3:136002765 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.66C>G (p.Arg22=) single nucleotide variant Propionic acidemia [RCV000919519] Chr3:136250441 [GRCh38]
Chr3:135969283 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.975T>C (p.Asp325=) single nucleotide variant Propionic acidemia [RCV001494429]|not provided [RCV000982536] Chr3:136316949 [GRCh38]
Chr3:136035791 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.318C>T (p.Ser106=) single nucleotide variant Propionic acidemia [RCV000977231] Chr3:136256569 [GRCh38]
Chr3:135975411 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.885-4A>C single nucleotide variant Propionic acidemia [RCV001431890]|not provided [RCV000920085] Chr3:136301026 [GRCh38]
Chr3:136019868 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.174G>A (p.Gln58=) single nucleotide variant Propionic acidemia [RCV001411812]|not provided [RCV000928551] Chr3:136250549 [GRCh38]
Chr3:135969391 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1401C>T (p.Gly467=) single nucleotide variant Propionic acidemia [RCV000938344] Chr3:136328760 [GRCh38]
Chr3:136047602 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln) single nucleotide variant Propionic acidemia [RCV000872035] Chr3:136329947 [GRCh38]
Chr3:136048789 [GRCh37]
Chr3:3q22.3
likely benign
GRCh37/hg19 3q22.2-24(chr3:135288025-146874012) copy number gain not provided [RCV000767703] Chr3:135288025..146874012 [GRCh37]
Chr3:3q22.2-24
pathogenic
NM_000532.5(PCCB):c.723G>A (p.Gln241=) single nucleotide variant Propionic acidemia [RCV001417573]|not provided [RCV000976717] Chr3:136293824 [GRCh38]
Chr3:136012666 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.373-173G>A single nucleotide variant not provided [RCV000832494] Chr3:136260306 [GRCh38]
Chr3:135979148 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.884+14C>T single nucleotide variant not provided [RCV000840181] Chr3:136298086 [GRCh38]
Chr3:136016928 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1317T>C (p.Tyr439=) single nucleotide variant Propionic acidemia [RCV001087781]|not provided [RCV000840223] Chr3:136327651 [GRCh38]
Chr3:136046493 [GRCh37]
Chr3:3q22.3
likely benign
NC_000003.12:g.136249986G>C single nucleotide variant not provided [RCV000843527] Chr3:136249986 [GRCh38]
Chr3:135968828 [GRCh37]
Chr3:3q22.3
benign
NM_000532.5(PCCB):c.1090+320A>G single nucleotide variant not provided [RCV000843538] Chr3:136317384 [GRCh38]
Chr3:136036226 [GRCh37]
Chr3:3q22.3
benign
NM_000532.5(PCCB):c.1498+278A>G single nucleotide variant not provided [RCV000843541] Chr3:136329135 [GRCh38]
Chr3:136047977 [GRCh37]
Chr3:3q22.3
benign
NC_000003.12:g.(?_136250366)_(136250568_?)del deletion Propionic acidemia [RCV000809310] Chr3:136250366..136250568 [GRCh38]
Chr3:135969208..135969410 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.543G>C (p.Leu181=) single nucleotide variant Propionic acidemia [RCV000814914] Chr3:136262065 [GRCh38]
Chr3:135980907 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.48T>C (p.Val16=) single nucleotide variant not provided [RCV000826314] Chr3:136250423 [GRCh38]
Chr3:135969265 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1433_1436dup (p.Glu480fs) duplication Propionic acidemia [RCV000799168] Chr3:136328791..136328792 [GRCh38]
Chr3:136047633..136047634 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.46G>T (p.Val16Phe) single nucleotide variant Propionic acidemia [RCV000812873] Chr3:136250421 [GRCh38]
Chr3:135969263 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1172_1173del (p.Phe391fs) deletion Propionic acidemia [RCV000816134] Chr3:136326882..136326883 [GRCh38]
Chr3:136045724..136045725 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.968TTG[1] (p.Val324del) microsatellite Propionic acidemia [RCV000790503] Chr3:136316941..136316943 [GRCh38]
Chr3:136035783..136035785 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.1234G>A (p.Gly412Ser) single nucleotide variant Propionic acidemia [RCV000790505] Chr3:136327190 [GRCh38]
Chr3:136046032 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.945C>T (p.Asn315=) single nucleotide variant not provided [RCV000838688] Chr3:136301090 [GRCh38]
Chr3:136019932 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.365T>C (p.Phe122Ser) single nucleotide variant Propionic acidemia [RCV000790497] Chr3:136256616 [GRCh38]
Chr3:135975458 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser) single nucleotide variant Propionic acidemia [RCV000790500] Chr3:136293834 [GRCh38]
Chr3:136012676 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.839del (p.Leu280fs) deletion Propionic acidemia [RCV000790502] Chr3:136298027 [GRCh38]
Chr3:136016869 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.1339C>T (p.Leu447Phe) single nucleotide variant Propionic acidemia [RCV000790506] Chr3:136327673 [GRCh38]
Chr3:136046515 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.764-316A>G single nucleotide variant not provided [RCV000828604] Chr3:136297636 [GRCh38]
Chr3:136016478 [GRCh37]
Chr3:3q22.3
benign
NM_000532.5(PCCB):c.163A>T (p.Ile55Phe) single nucleotide variant Propionic acidemia [RCV001145982] Chr3:136250538 [GRCh38]
Chr3:135969380 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.182G>A (p.Arg61Gln) single nucleotide variant Propionic acidemia [RCV001148763] Chr3:136250557 [GRCh38]
Chr3:135969399 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser) single nucleotide variant Propionic acidemia [RCV001037425] Chr3:136327643 [GRCh38]
Chr3:136046485 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.373-1009G>A single nucleotide variant not provided [RCV000830712] Chr3:136259470 [GRCh38]
Chr3:135978312 [GRCh37]
Chr3:3q22.3
benign
NM_000532.5(PCCB):c.561C>T (p.Ser187=) single nucleotide variant Propionic acidemia [RCV001083919]|not provided [RCV000830858] Chr3:136283854 [GRCh38]
Chr3:136002696 [GRCh37]
Chr3:3q22.3
likely benign|conflicting interpretations of pathogenicity
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys) single nucleotide variant Propionic acidemia [RCV000784910] Chr3:136301034 [GRCh38]
Chr3:136019876 [GRCh37]
Chr3:3q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000532.5(PCCB):c.167A>G (p.Asp56Gly) single nucleotide variant Propionic acidemia [RCV001145983] Chr3:136250542 [GRCh38]
Chr3:135969384 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1299+13T>C single nucleotide variant not provided [RCV000827295] Chr3:136327268 [GRCh38]
Chr3:136046110 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.136_139delinsCCT (p.Ala46fs) indel Propionic acidemia [RCV000824455] Chr3:136250511..136250514 [GRCh38]
Chr3:135969353..135969356 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.544-5G>C single nucleotide variant Propionic acidemia [RCV001148765]|not provided [RCV001551113] Chr3:136283832 [GRCh38]
Chr3:136002674 [GRCh37]
Chr3:3q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000532.5(PCCB):c.774C>G (p.His258Gln) single nucleotide variant Propionic acidemia [RCV000874732]|not provided [RCV001547426]|not specified [RCV001192545] Chr3:136297962 [GRCh38]
Chr3:136016804 [GRCh37]
Chr3:3q22.3
likely benign|uncertain significance
NM_000532.5(PCCB):c.1215C>T (p.Tyr405=) single nucleotide variant Propionic acidemia [RCV001085882]|not provided [RCV000840978] Chr3:136327171 [GRCh38]
Chr3:136046013 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.410A>G (p.His137Arg) single nucleotide variant Propionic acidemia [RCV000790498] Chr3:136260516 [GRCh38]
Chr3:135979358 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.703A>C (p.Thr235Pro) single nucleotide variant Propionic acidemia [RCV000790499] Chr3:136293804 [GRCh38]
Chr3:136012646 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.1220del (p.Gly407fs) deletion Propionic acidemia [RCV000790504] Chr3:136327172 [GRCh38]
Chr3:136046014 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.800C>A (p.Ala267Asp) single nucleotide variant Propionic acidemia [RCV000790501] Chr3:136297988 [GRCh38]
Chr3:136016830 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.885-7C>T single nucleotide variant Propionic acidemia [RCV000941473] Chr3:136301023 [GRCh38]
Chr3:136019865 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1132G>T (p.Val378Phe) single nucleotide variant Propionic acidemia [RCV001065339] Chr3:136326844 [GRCh38]
Chr3:136045686 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1535G>A (p.Arg512His) single nucleotide variant Propionic acidemia [RCV001053931] Chr3:136329941 [GRCh38]
Chr3:136048783 [GRCh37]
Chr3:3q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000532.5(PCCB):c.1223del (p.Ile408fs) deletion Propionic acidemia [RCV000987340] Chr3:136327179 [GRCh38]
Chr3:136046021 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.152dup (p.Gln52fs) duplication Propionic acidemia [RCV001040406] Chr3:136250522..136250523 [GRCh38]
Chr3:135969364..135969365 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.38G>A (p.Arg13Lys) single nucleotide variant Propionic acidemia [RCV001242860] Chr3:136250413 [GRCh38]
Chr3:135969255 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1091-8_1091-3del deletion Propionic acidemia [RCV000987338] Chr3:136326792..136326797 [GRCh38]
Chr3:136045634..136045639 [GRCh37]
Chr3:3q22.3
pathogenic|likely pathogenic
NM_000532.5(PCCB):c.884+241G>T single nucleotide variant not provided [RCV001577954] Chr3:136298313 [GRCh38]
Chr3:136017155 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.373-1292C>T single nucleotide variant not provided [RCV001568582] Chr3:136259187 [GRCh38]
Chr3:135978029 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.373-1417A>G single nucleotide variant not provided [RCV001576488] Chr3:136259062 [GRCh38]
Chr3:135977904 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.543+47C>T single nucleotide variant not provided [RCV001556078] Chr3:136262112 [GRCh38]
Chr3:135980954 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1398+177T>G single nucleotide variant not provided [RCV001535040] Chr3:136327909 [GRCh38]
Chr3:136046751 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.304-147T>A single nucleotide variant not provided [RCV001569659] Chr3:136256408 [GRCh38]
Chr3:135975250 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.884+116G>A single nucleotide variant not provided [RCV001562638] Chr3:136298188 [GRCh38]
Chr3:136017030 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.250A>G (p.Met84Val) single nucleotide variant not provided [RCV001564088] Chr3:136255922 [GRCh38]
Chr3:135974764 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.131G>A (p.Arg44Gln) single nucleotide variant not provided [RCV001557958] Chr3:136250506 [GRCh38]
Chr3:135969348 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.183+201T>C single nucleotide variant not provided [RCV001552401] Chr3:136250759 [GRCh38]
Chr3:135969601 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.184-87C>T single nucleotide variant not provided [RCV001559544] Chr3:136255769 [GRCh38]
Chr3:135974611 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.855G>A (p.Pro285=) single nucleotide variant Propionic acidemia [RCV001498067]|not provided [RCV000932356] Chr3:136298043 [GRCh38]
Chr3:136016885 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.483T>G (p.Ser161=) single nucleotide variant Propionic acidemia [RCV001410020]|not provided [RCV000945183] Chr3:136262005 [GRCh38]
Chr3:135980847 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.876C>T (p.His292=) single nucleotide variant Propionic acidemia [RCV001500193]|not provided [RCV000928301] Chr3:136298064 [GRCh38]
Chr3:136016906 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.138G>C (p.Ala46=) single nucleotide variant Propionic acidemia [RCV000872116]|not provided [RCV001571243] Chr3:136250513 [GRCh38]
Chr3:135969355 [GRCh37]
Chr3:3q22.3
benign|likely benign
NM_000532.5(PCCB):c.1199-4C>T single nucleotide variant Propionic acidemia [RCV001395865]|not provided [RCV000932183] Chr3:136327151 [GRCh38]
Chr3:136045993 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.884+8G>A single nucleotide variant not provided [RCV000944026] Chr3:136298080 [GRCh38]
Chr3:136016922 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.306T>G (p.Phe102Leu) single nucleotide variant Propionic acidemia [RCV001243511] Chr3:136256557 [GRCh38]
Chr3:135975399 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.554C>G (p.Thr185Arg) single nucleotide variant Propionic acidemia [RCV001236807] Chr3:136283847 [GRCh38]
Chr3:136002689 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1087T>C (p.Ser363Pro) single nucleotide variant Propionic acidemia [RCV001208742] Chr3:136317061 [GRCh38]
Chr3:136035903 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1143_1144dup (p.Asp382fs) microsatellite Propionic acidemia [RCV001227507] Chr3:136326852..136326853 [GRCh38]
Chr3:136045694..136045695 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.818A>T (p.Asp273Val) single nucleotide variant Propionic acidemia [RCV001243716] Chr3:136298006 [GRCh38]
Chr3:136016848 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.965C>T (p.Ser322Phe) single nucleotide variant Propionic acidemia [RCV001071695] Chr3:136301110 [GRCh38]
Chr3:136019952 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1198+1G>A single nucleotide variant Propionic acidemia [RCV001235194] Chr3:136326911 [GRCh38]
Chr3:136045753 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.850G>A (p.Asp284Asn) single nucleotide variant Propionic acidemia [RCV001144195] Chr3:136298038 [GRCh38]
Chr3:136016880 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr) single nucleotide variant Propionic acidemia [RCV001247013] Chr3:136329920 [GRCh38]
Chr3:136048762 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.141G>A (p.Leu47=) single nucleotide variant not provided [RCV000912624] Chr3:136250516 [GRCh38]
Chr3:135969358 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.966+205G>A single nucleotide variant not provided [RCV001571491] Chr3:136301316 [GRCh38]
Chr3:136020158 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.884+281G>A single nucleotide variant not provided [RCV001560888] Chr3:136298353 [GRCh38]
Chr3:136017195 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.544-185A>G single nucleotide variant not provided [RCV001568963] Chr3:136283652 [GRCh38]
Chr3:136002494 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.429+307C>T single nucleotide variant not provided [RCV001556194] Chr3:136260842 [GRCh38]
Chr3:135979684 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.183+55T>A single nucleotide variant not provided [RCV001569509] Chr3:136250613 [GRCh38]
Chr3:135969455 [GRCh37]
Chr3:3q22.3
likely benign
NC_000003.12:g.(?_136316921)_(136317084_?)del deletion Propionic acidemia [RCV001032189] Chr3:136035763..136035926 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.654+369_654+370insGA insertion not provided [RCV001539867] Chr3:136284316..136284317 [GRCh38]
Chr3:136003158..136003159 [GRCh37]
Chr3:3q22.3
benign
NM_000532.5(PCCB):c.884G>C (p.Ser295Thr) single nucleotide variant Propionic acidemia [RCV001144196] Chr3:136298072 [GRCh38]
Chr3:136016914 [GRCh37]
Chr3:3q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000532.5(PCCB):c.655-205T>C single nucleotide variant not provided [RCV001564882] Chr3:136293551 [GRCh38]
Chr3:136012393 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1090+173_1090+178dup duplication not provided [RCV001574230] Chr3:136317212..136317213 [GRCh38]
Chr3:136036054..136036055 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.16C>T (p.Arg6Trp) single nucleotide variant Propionic acidemia [RCV001232976] Chr3:136250391 [GRCh38]
Chr3:135969233 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.613G>A (p.Val205Ile) single nucleotide variant Propionic acidemia [RCV001248739] Chr3:136283906 [GRCh38]
Chr3:136002748 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.368G>T (p.Ser123Ile) single nucleotide variant Propionic acidemia [RCV001148764] Chr3:136256619 [GRCh38]
Chr3:135975461 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.76dup (p.Arg26fs) duplication Propionic acidemia [RCV001214667] Chr3:136250449..136250450 [GRCh38]
Chr3:135969291..135969292 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.876C>G (p.His292Gln) single nucleotide variant Propionic acidemia [RCV001201599] Chr3:136298064 [GRCh38]
Chr3:136016906 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1015A>G (p.Asn339Asp) single nucleotide variant Propionic acidemia [RCV001208669] Chr3:136316989 [GRCh38]
Chr3:136035831 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1124C>T (p.Ala375Val) single nucleotide variant Propionic acidemia [RCV001208670] Chr3:136326836 [GRCh38]
Chr3:136045678 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.505G>T (p.Gly169Ter) single nucleotide variant Propionic acidemia [RCV001215763] Chr3:136262027 [GRCh38]
Chr3:135980869 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.1253C>G (p.Ala418Gly) single nucleotide variant Propionic acidemia [RCV001146092] Chr3:136327209 [GRCh38]
Chr3:136046051 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.420_421dup (p.Ile141fs) duplication Propionic acidemia [RCV001210720] Chr3:136260524..136260525 [GRCh38]
Chr3:135979366..135979367 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.769G>A (p.Ala257Thr) single nucleotide variant Propionic acidemia [RCV001197654] Chr3:136297957 [GRCh38]
Chr3:136016799 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.94G>A (p.Ala32Thr) single nucleotide variant Propionic acidemia [RCV001145981] Chr3:136250469 [GRCh38]
Chr3:135969311 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1499-1G>C single nucleotide variant Propionic acidemia [RCV001192546] Chr3:136329904 [GRCh38]
Chr3:136048746 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.654+14G>T single nucleotide variant Propionic acidemia [RCV001253909] Chr3:136283961 [GRCh38]
Chr3:136002803 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1299G>C (p.Lys433Asn) single nucleotide variant Propionic acidemia [RCV001313848] Chr3:136327255 [GRCh38]
Chr3:136046097 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.155_183+17del deletion not provided [RCV001268345] Chr3:136250524..136250569 [GRCh38]
Chr3:135969366..135969411 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.1597A>G (p.Lys533Glu) single nucleotide variant Propionic acidemia [RCV001257444] Chr3:136330003 [GRCh38]
Chr3:136048845 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.1398+3G>A single nucleotide variant Propionic acidemia [RCV001298505] Chr3:136327735 [GRCh38]
Chr3:136046577 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.460C>T (p.Pro154Ser) single nucleotide variant Propionic acidemia [RCV001305446] Chr3:136261982 [GRCh38]
Chr3:135980824 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.217T>C (p.Leu73=) single nucleotide variant Propionic acidemia [RCV001414707] Chr3:136255889 [GRCh38]
Chr3:135974731 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1370C>T (p.Thr457Ile) single nucleotide variant Propionic acidemia [RCV001297390] Chr3:136327704 [GRCh38]
Chr3:136046546 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.75C>T (p.Val25=) single nucleotide variant Propionic acidemia [RCV001413268] Chr3:136250450 [GRCh38]
Chr3:135969292 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1217_1218insTA (p.Gly407fs) insertion Propionic acidemia [RCV001292916] Chr3:136327173..136327174 [GRCh38]
Chr3:136046015..136046016 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.933C>G (p.Thr311=) single nucleotide variant Propionic acidemia [RCV001421417] Chr3:136301078 [GRCh38]
Chr3:136019920 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1149A>T (p.Ala383=) single nucleotide variant Propionic acidemia [RCV001423049] Chr3:136326861 [GRCh38]
Chr3:136045703 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1194A>G (p.Leu398=) single nucleotide variant Propionic acidemia [RCV001395906] Chr3:136326906 [GRCh38]
Chr3:136045748 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1539C>G (p.Ala513=) single nucleotide variant Propionic acidemia [RCV001414632] Chr3:136329945 [GRCh38]
Chr3:136048787 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.115A>G (p.Ile39Val) single nucleotide variant Propionic acidemia [RCV001362596] Chr3:136250490 [GRCh38]
Chr3:135969332 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1481T>C (p.Phe494Ser) single nucleotide variant Propionic acidemia [RCV001346372] Chr3:136328840 [GRCh38]
Chr3:136047682 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.746C>T (p.Thr249Ile) single nucleotide variant Propionic acidemia [RCV001373687] Chr3:136293847 [GRCh38]
Chr3:136012689 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.943A>G (p.Asn315Asp) single nucleotide variant Propionic acidemia [RCV001364834] Chr3:136301088 [GRCh38]
Chr3:136019930 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.927A>C (p.Glu309Asp) single nucleotide variant Propionic acidemia [RCV001320046] Chr3:136301072 [GRCh38]
Chr3:136019914 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.449C>T (p.Thr150Met) single nucleotide variant Propionic acidemia [RCV001346006] Chr3:136261971 [GRCh38]
Chr3:135980813 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.914T>G (p.Ile305Ser) single nucleotide variant Propionic acidemia [RCV001319121] Chr3:136301059 [GRCh38]
Chr3:136019901 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1482C>G (p.Phe494Leu) single nucleotide variant Propionic acidemia [RCV001374338] Chr3:136328841 [GRCh38]
Chr3:136047683 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.1555C>G (p.Leu519Val) single nucleotide variant Propionic acidemia [RCV001313830] Chr3:136329961 [GRCh38]
Chr3:136048803 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.332G>A (p.Arg111Gln) single nucleotide variant Propionic acidemia [RCV001352317] Chr3:136256583 [GRCh38]
Chr3:135975425 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.96C>T (p.Ala32=) single nucleotide variant Propionic acidemia [RCV001413314] Chr3:136250471 [GRCh38]
Chr3:135969313 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.12A>G (p.Ala4=) single nucleotide variant Propionic acidemia [RCV001414260] Chr3:136250387 [GRCh38]
Chr3:135969229 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1456T>C (p.Tyr486His) single nucleotide variant Propionic acidemia [RCV001333500] Chr3:136328815 [GRCh38]
Chr3:136047657 [GRCh37]
Chr3:3q22.3
uncertain significance
NM_000532.5(PCCB):c.763+8G>A single nucleotide variant Propionic acidemia [RCV001413241] Chr3:136293872 [GRCh38]
Chr3:136012714 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.459T>A (p.Ala153=) single nucleotide variant Propionic acidemia [RCV001490233] Chr3:136261981 [GRCh38]
Chr3:135980823 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.144G>C (p.Leu48=) single nucleotide variant Propionic acidemia [RCV001492142] Chr3:136250519 [GRCh38]
Chr3:135969361 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1002C>A (p.Pro334=) single nucleotide variant Propionic acidemia [RCV001485481] Chr3:136316976 [GRCh38]
Chr3:136035818 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1146T>A (p.Asp382Glu) single nucleotide variant Propionic acidemia [RCV001384626] Chr3:136326858 [GRCh38]
Chr3:136045700 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.1399-2_1399-1del deletion Propionic acidemia [RCV001384627] Chr3:136328756..136328757 [GRCh38]
Chr3:136047598..136047599 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.801C>T (p.Ala267=) single nucleotide variant Propionic acidemia [RCV001481677] Chr3:136297989 [GRCh38]
Chr3:136016831 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.138G>A (p.Ala46=) single nucleotide variant Propionic acidemia [RCV001424999] Chr3:136250513 [GRCh38]
Chr3:135969355 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.105dup (p.Asn36Ter) duplication Propionic acidemia [RCV001384996] Chr3:136250478..136250479 [GRCh38]
Chr3:135969320..135969321 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.1361_1364del (p.Ala454fs) deletion Propionic acidemia [RCV001389857] Chr3:136327693..136327696 [GRCh38]
Chr3:136046535..136046538 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.1399-10C>T single nucleotide variant Propionic acidemia [RCV001458876] Chr3:136328748 [GRCh38]
Chr3:136047590 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.645C>T (p.Phe215=) single nucleotide variant Propionic acidemia [RCV001439265] Chr3:136283938 [GRCh38]
Chr3:136002780 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1293C>T (p.Thr431=) single nucleotide variant Propionic acidemia [RCV001442016] Chr3:136327249 [GRCh38]
Chr3:136046091 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1020C>T (p.Ile340=) single nucleotide variant Propionic acidemia [RCV001474308] Chr3:136316994 [GRCh38]
Chr3:136035836 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.6G>A (p.Ala2=) single nucleotide variant Propionic acidemia [RCV001491557] Chr3:136250381 [GRCh38]
Chr3:135969223 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.18G>T (p.Arg6=) single nucleotide variant Propionic acidemia [RCV001474328] Chr3:136250393 [GRCh38]
Chr3:135969235 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1498+10T>C single nucleotide variant Propionic acidemia [RCV001482948] Chr3:136328867 [GRCh38]
Chr3:136047709 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.414C>G (p.Ala138=) single nucleotide variant Propionic acidemia [RCV001463624] Chr3:136260520 [GRCh38]
Chr3:135979362 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1214dup (p.Tyr405Ter) duplication Propionic acidemia [RCV001386196] Chr3:136327169..136327170 [GRCh38]
Chr3:136046011..136046012 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.1198+1_1198+11del deletion Propionic acidemia [RCV001376774] Chr3:136326909..136326919 [GRCh38]
Chr3:136045751..136045761 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.510G>A (p.Val170=) single nucleotide variant Propionic acidemia [RCV001489471] Chr3:136262032 [GRCh38]
Chr3:135980874 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.321G>C (p.Val107=) single nucleotide variant Propionic acidemia [RCV001470455] Chr3:136256572 [GRCh38]
Chr3:135975414 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.597A>C (p.Pro199=) single nucleotide variant Propionic acidemia [RCV001491900] Chr3:136283890 [GRCh38]
Chr3:136002732 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.963C>T (p.His321=) single nucleotide variant Propionic acidemia [RCV001461087] Chr3:136301108 [GRCh38]
Chr3:136019950 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.642G>A (p.Thr214=) single nucleotide variant Propionic acidemia [RCV001501748] Chr3:136283935 [GRCh38]
Chr3:136002777 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.861C>T (p.Pro287=) single nucleotide variant Propionic acidemia [RCV001493572] Chr3:136298049 [GRCh38]
Chr3:136016891 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1539C>T (p.Ala513=) single nucleotide variant Propionic acidemia [RCV001498715] Chr3:136329945 [GRCh38]
Chr3:136048787 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.612C>T (p.Ala204=) single nucleotide variant Propionic acidemia [RCV001490123] Chr3:136283905 [GRCh38]
Chr3:136002747 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.297G>A (p.Lys99=) single nucleotide variant Propionic acidemia [RCV001453182] Chr3:136255969 [GRCh38]
Chr3:135974811 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.30C>A (p.Val10=) single nucleotide variant Propionic acidemia [RCV001438382] Chr3:136250405 [GRCh38]
Chr3:135969247 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.21G>A (p.Val7=) single nucleotide variant Propionic acidemia [RCV001448551] Chr3:136250396 [GRCh38]
Chr3:135969238 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.642G>T (p.Thr214=) single nucleotide variant Propionic acidemia [RCV001430320] Chr3:136283935 [GRCh38]
Chr3:136002777 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.18G>C (p.Arg6=) single nucleotide variant Propionic acidemia [RCV001400809] Chr3:136250393 [GRCh38]
Chr3:135969235 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1614A>G (p.Pro538=) single nucleotide variant Propionic acidemia [RCV001409525] Chr3:136330020 [GRCh38]
Chr3:136048862 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.27G>A (p.Ala9=) single nucleotide variant Propionic acidemia [RCV001441291] Chr3:136250402 [GRCh38]
Chr3:135969244 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.304-4G>T single nucleotide variant Propionic acidemia [RCV001428866] Chr3:136256551 [GRCh38]
Chr3:135975393 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.906T>G (p.Leu302=) single nucleotide variant Propionic acidemia [RCV001403327] Chr3:136301051 [GRCh38]
Chr3:136019893 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.72G>T (p.Ala24=) single nucleotide variant Propionic acidemia [RCV001409730] Chr3:136250447 [GRCh38]
Chr3:135969289 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.737G>T (p.Gly246Val) single nucleotide variant Propionic acidemia [RCV001389822] Chr3:136293838 [GRCh38]
Chr3:136012680 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.1338C>T (p.His446=) single nucleotide variant Propionic acidemia [RCV001407563] Chr3:136327672 [GRCh38]
Chr3:136046514 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.360T>C (p.Tyr120=) single nucleotide variant Propionic acidemia [RCV001430591] Chr3:136256611 [GRCh38]
Chr3:135975453 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.763+8G>C single nucleotide variant Propionic acidemia [RCV001410147] Chr3:136293872 [GRCh38]
Chr3:136012714 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.371del (p.Gln124fs) deletion Propionic acidemia [RCV001390315] Chr3:136256622 [GRCh38]
Chr3:135975464 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.732C>T (p.Leu244=) single nucleotide variant Propionic acidemia [RCV001447101] Chr3:136293833 [GRCh38]
Chr3:136012675 [GRCh37]
Chr3:3q22.3
likely benign
Single allele deletion Lymphedema, primary, with myelodysplasia [RCV001541925] Chr3:127966423..136853218 [GRCh37]
Chr3:3q21.3-22.3
pathogenic
NM_000532.5(PCCB):c.216C>T (p.Leu72=) single nucleotide variant Propionic acidemia [RCV001447278] Chr3:136255888 [GRCh38]
Chr3:135974730 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.42C>T (p.Leu14=) single nucleotide variant Propionic acidemia [RCV001410732] Chr3:136250417 [GRCh38]
Chr3:135969259 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.978G>A (p.Glu326=) single nucleotide variant Propionic acidemia [RCV001437853] Chr3:136316952 [GRCh38]
Chr3:136035794 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1242G>A (p.Lys414=) single nucleotide variant Propionic acidemia [RCV001445031] Chr3:136327198 [GRCh38]
Chr3:136046040 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.630A>C (p.Leu210=) single nucleotide variant Propionic acidemia [RCV001444903] Chr3:136283923 [GRCh38]
Chr3:136002765 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1398+9C>T single nucleotide variant Propionic acidemia [RCV001426769] Chr3:136327741 [GRCh38]
Chr3:136046583 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.600T>A (p.Cys200Ter) single nucleotide variant Propionic acidemia [RCV001388863] Chr3:136283893 [GRCh38]
Chr3:136002735 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.1564T>C (p.Leu522=) single nucleotide variant Propionic acidemia [RCV001424101] Chr3:136329970 [GRCh38]
Chr3:136048812 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.852C>T (p.Asp284=) single nucleotide variant Propionic acidemia [RCV001448199] Chr3:136298040 [GRCh38]
Chr3:136016882 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1287C>G (p.Val429=) single nucleotide variant Propionic acidemia [RCV001408908] Chr3:136327243 [GRCh38]
Chr3:136046085 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1383A>C (p.Ala461=) single nucleotide variant Propionic acidemia [RCV001427505] Chr3:136327717 [GRCh38]
Chr3:136046559 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.-8_12del (p.Met1fs) deletion Propionic acidemia [RCV001381993] Chr3:136250363..136250382 [GRCh38]
Chr3:135969205..135969224 [GRCh37]
Chr3:3q22.3
pathogenic
NM_000532.5(PCCB):c.660C>T (p.Thr220=) single nucleotide variant Propionic acidemia [RCV001448456] Chr3:136293761 [GRCh38]
Chr3:136012603 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.966+9C>T single nucleotide variant Propionic acidemia [RCV001402002] Chr3:136301120 [GRCh38]
Chr3:136019962 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.384T>G (p.Val128=) single nucleotide variant Propionic acidemia [RCV001506025] Chr3:136260490 [GRCh38]
Chr3:135979332 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.303+7G>A single nucleotide variant Propionic acidemia [RCV001473048] Chr3:136255982 [GRCh38]
Chr3:135974824 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1146T>C (p.Asp382=) single nucleotide variant Propionic acidemia [RCV001490746] Chr3:136326858 [GRCh38]
Chr3:136045700 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.544-10G>A single nucleotide variant Propionic acidemia [RCV001454611] Chr3:136283827 [GRCh38]
Chr3:136002669 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.429+8T>C single nucleotide variant Propionic acidemia [RCV001499542] Chr3:136260543 [GRCh38]
Chr3:135979385 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.480C>T (p.Asp160=) single nucleotide variant Propionic acidemia [RCV001458055] Chr3:136262002 [GRCh38]
Chr3:135980844 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.544-4G>A single nucleotide variant Propionic acidemia [RCV001479745] Chr3:136283833 [GRCh38]
Chr3:136002675 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1542A>C (p.Arg514=) single nucleotide variant Propionic acidemia [RCV001499900] Chr3:136329948 [GRCh38]
Chr3:136048790 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1008T>C (p.Tyr336=) single nucleotide variant Propionic acidemia [RCV001465988] Chr3:136316982 [GRCh38]
Chr3:136035824 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.30C>T (p.Val10=) single nucleotide variant Propionic acidemia [RCV001455617] Chr3:136250405 [GRCh38]
Chr3:135969247 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1091-6T>C single nucleotide variant Propionic acidemia [RCV001487056] Chr3:136326797 [GRCh38]
Chr3:136045639 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1090+7T>C single nucleotide variant Propionic acidemia [RCV001503888] Chr3:136317071 [GRCh38]
Chr3:136035913 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.135C>A (p.Thr45=) single nucleotide variant Propionic acidemia [RCV001470436] Chr3:136250510 [GRCh38]
Chr3:135969352 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.184-9C>T single nucleotide variant Propionic acidemia [RCV001477139] Chr3:136255847 [GRCh38]
Chr3:135974689 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.627C>T (p.Ala209=) single nucleotide variant Propionic acidemia [RCV001456258] Chr3:136283920 [GRCh38]
Chr3:136002762 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.450G>A (p.Thr150=) single nucleotide variant Propionic acidemia [RCV001466877] Chr3:136261972 [GRCh38]
Chr3:135980814 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.49C>T (p.Leu17=) single nucleotide variant Propionic acidemia [RCV001498385] Chr3:136250424 [GRCh38]
Chr3:135969266 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1399-218G>T single nucleotide variant not provided [RCV001540626] Chr3:136328540 [GRCh38]
Chr3:136047382 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1107T>C (p.Asn369=) single nucleotide variant Propionic acidemia [RCV001401180] Chr3:136326819 [GRCh38]
Chr3:136045661 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.184-7A>T single nucleotide variant Propionic acidemia [RCV001502859] Chr3:136255849 [GRCh38]
Chr3:135974691 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1096T>C (p.Leu366=) single nucleotide variant Propionic acidemia [RCV001490253] Chr3:136326808 [GRCh38]
Chr3:136045650 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.507A>C (p.Gly169=) single nucleotide variant Propionic acidemia [RCV001405837] Chr3:136262029 [GRCh38]
Chr3:135980871 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.764-10G>C single nucleotide variant Propionic acidemia [RCV001486424] Chr3:136297942 [GRCh38]
Chr3:136016784 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.183+9T>C single nucleotide variant Propionic acidemia [RCV001473973] Chr3:136250567 [GRCh38]
Chr3:135969409 [GRCh37]
Chr3:3q22.3
likely benign
NC_000003.11:g.(?_136012588)_(136035916_?)del deletion Propionic acidemia [RCV001390919] Chr3:136012588..136035916 [GRCh37]
Chr3:3q22.3
pathogenic
NC_000003.11:g.(?_136019910_136021257del deletion Propionic acidemia [RCV001390920]   pathogenic
NM_000532.5(PCCB):c.1515C>T (p.Ile505=) single nucleotide variant Propionic acidemia [RCV001491532] Chr3:136329921 [GRCh38]
Chr3:136048763 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.764-5C>A single nucleotide variant Propionic acidemia [RCV001476101] Chr3:136297947 [GRCh38]
Chr3:136016789 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.663C>T (p.Ser221=) single nucleotide variant Propionic acidemia [RCV001496359] Chr3:136293764 [GRCh38]
Chr3:136012606 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1104T>C (p.Ile368=) single nucleotide variant Propionic acidemia [RCV001497634] Chr3:136326816 [GRCh38]
Chr3:136045658 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.774C>T (p.His258=) single nucleotide variant Propionic acidemia [RCV001502583] Chr3:136297962 [GRCh38]
Chr3:136016804 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1350T>C (p.Asp450=) single nucleotide variant Propionic acidemia [RCV001476528] Chr3:136327684 [GRCh38]
Chr3:136046526 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.387T>C (p.Phe129=) single nucleotide variant Propionic acidemia [RCV001417602] Chr3:136260493 [GRCh38]
Chr3:135979335 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.884+10A>G single nucleotide variant Propionic acidemia [RCV001436589] Chr3:136298082 [GRCh38]
Chr3:136016924 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1251C>T (p.Tyr417=) single nucleotide variant Propionic acidemia [RCV001419921] Chr3:136327207 [GRCh38]
Chr3:136046049 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.474G>A (p.Leu158=) single nucleotide variant Propionic acidemia [RCV001497005] Chr3:136261996 [GRCh38]
Chr3:135980838 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.414C>T (p.Ala138=) single nucleotide variant Propionic acidemia [RCV001480536] Chr3:136260520 [GRCh38]
Chr3:135979362 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1473C>T (p.Ala491=) single nucleotide variant Propionic acidemia [RCV001467892] Chr3:136328832 [GRCh38]
Chr3:136047674 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.1399-5C>T single nucleotide variant Propionic acidemia [RCV001419728] Chr3:136328753 [GRCh38]
Chr3:136047595 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.909C>T (p.Asp303=) single nucleotide variant Propionic acidemia [RCV001418253] Chr3:136301054 [GRCh38]
Chr3:136019896 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.667C>T (p.Leu223=) single nucleotide variant Propionic acidemia [RCV001466408] Chr3:136293768 [GRCh38]
Chr3:136012610 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.594C>G (p.Gly198=) single nucleotide variant Propionic acidemia [RCV001400310] Chr3:136283887 [GRCh38]
Chr3:136002729 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.861C>A (p.Pro287=) single nucleotide variant Propionic acidemia [RCV001402043] Chr3:136298049 [GRCh38]
Chr3:136016891 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.246C>T (p.Ser82=) single nucleotide variant Propionic acidemia [RCV001501066] Chr3:136255918 [GRCh38]
Chr3:135974760 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.2T>C (p.Met1Thr) single nucleotide variant Propionic acidemia [RCV001378948] Chr3:136250377 [GRCh38]
Chr3:135969219 [GRCh37]
Chr3:3q22.3
likely pathogenic
NM_000532.5(PCCB):c.912A>G (p.Thr304=) single nucleotide variant Propionic acidemia [RCV001398552] Chr3:136301057 [GRCh38]
Chr3:136019899 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.816G>C (p.Arg272=) single nucleotide variant Propionic acidemia [RCV001489495] Chr3:136298004 [GRCh38]
Chr3:136016846 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.304-5G>C single nucleotide variant Propionic acidemia [RCV001501467] Chr3:136256550 [GRCh38]
Chr3:135975392 [GRCh37]
Chr3:3q22.3
likely benign
NM_000532.5(PCCB):c.888C>T (p.Asp296=) single nucleotide variant Propionic acidemia [RCV001466931] Chr3:136301033 [GRCh38]
Chr3:136019875 [GRCh37]
Chr3:3q22.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8654 AgrOrtholog
COSMIC PCCB COSMIC
Ensembl Genes ENSG00000114054 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000251654 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000417253 UniProtKB/TrEMBL
  ENSP00000417549 UniProtKB/TrEMBL
  ENSP00000417937 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000418020 UniProtKB/TrEMBL
  ENSP00000418307 UniProtKB/TrEMBL
  ENSP00000419027 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000419129 UniProtKB/TrEMBL
  ENSP00000419263 UniProtKB/TrEMBL
  ENSP00000419293 UniProtKB/TrEMBL
  ENSP00000419563 UniProtKB/TrEMBL
  ENSP00000420158 UniProtKB/TrEMBL
  ENSP00000420391 UniProtKB/TrEMBL
  ENSP00000420639 UniProtKB/TrEMBL
  ENSP00000420759 UniProtKB/TrEMBL
Ensembl Transcript ENST00000251654 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000459873 UniProtKB/TrEMBL
  ENST00000462542 UniProtKB/TrEMBL
  ENST00000462637 UniProtKB/TrEMBL
  ENST00000465423 UniProtKB/TrEMBL
  ENST00000466072 UniProtKB/TrEMBL
  ENST00000468777 UniProtKB/TrEMBL
  ENST00000469217 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000471595 UniProtKB/TrEMBL
  ENST00000478469 UniProtKB/TrEMBL
  ENST00000482086 UniProtKB/TrEMBL
  ENST00000483687 UniProtKB/TrEMBL
  ENST00000484181 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000490504 UniProtKB/TrEMBL
  ENST00000494742 UniProtKB/TrEMBL
GTEx ENSG00000114054 GTEx
HGNC ID HGNC:8654 ENTREZGENE
Human Proteome Map PCCB Human Proteome Map
InterPro AcCoA_carboxyl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acetyl_CoA_COase_Trfase_b_su UniProtKB/TrEMBL
  ClpP/crotonase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COA_CT_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COA_CT_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5096 UniProtKB/Swiss-Prot
NCBI Gene 5096 ENTREZGENE
OMIM 232050 OMIM
  606054 OMIM
Pfam Carboxyl_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32993 PharmGKB
PRINTS ACCCTRFRASEB UniProtKB/TrEMBL
PROSITE COA_CT_CTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COA_CT_NTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52096 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B2JLU8_HUMAN UniProtKB/TrEMBL
  C9JAW3_HUMAN UniProtKB/TrEMBL
  C9JQS9_HUMAN UniProtKB/TrEMBL
  C9JVW9_HUMAN UniProtKB/TrEMBL
  C9JVY9_HUMAN UniProtKB/TrEMBL
  E7ENC1_HUMAN UniProtKB/TrEMBL
  E7ETT1_HUMAN UniProtKB/TrEMBL
  E7ETT4_HUMAN UniProtKB/TrEMBL
  E7EUY3_HUMAN UniProtKB/TrEMBL
  E7EX59_HUMAN UniProtKB/TrEMBL
  E9PDR0_HUMAN UniProtKB/TrEMBL
  E9PEC3_HUMAN UniProtKB/TrEMBL
  F8WBI9_HUMAN UniProtKB/TrEMBL
  H7C5C9_HUMAN UniProtKB/TrEMBL
  P05166 ENTREZGENE, UniProtKB/Swiss-Prot
  Q9HBR7_HUMAN UniProtKB/TrEMBL
UniProt Secondary B7Z2Z4 UniProtKB/Swiss-Prot
  Q16813 UniProtKB/Swiss-Prot
  Q96CX0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 PCCB  propionyl-CoA carboxylase subunit beta    propionyl-CoA carboxylase beta subunit  Symbol and/or name change 5135510 APPROVED
2015-11-17 PCCB  propionyl-CoA carboxylase beta subunit    propionyl CoA carboxylase, beta polypeptide  Symbol and/or name change 5135510 APPROVED
2011-08-16 PCCB  propionyl CoA carboxylase, beta polypeptide  PCCB  propionyl CoA carboxylase, beta polypeptide  Symbol and/or name change 5135510 APPROVED
2011-07-27 PCCB  propionyl CoA carboxylase, beta polypeptide  PCCB  propionyl Coenzyme A carboxylase, beta polypeptide  Symbol and/or name change 5135510 APPROVED