MOCS1 (molybdenum cofactor synthesis 1) - Rat Genome Database
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Gene: MOCS1 (molybdenum cofactor synthesis 1) Homo sapiens
Analyze
Symbol: MOCS1
Name: molybdenum cofactor synthesis 1
RGD ID: 1318258
HGNC Page HGNC
Description: Exhibits 4 iron, 4 sulfur cluster binding activity; GTP 3',8'-cyclase activity; and cyclic pyranopterin monophosphate synthase activity. Involved in Mo-molybdopterin cofactor biosynthetic process. Predicted to localize to cytosol. Implicated in molybdenum cofactor deficiency type A.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cell migration-inducing gene 11 protein; KIAA0381; MIG11; migration-inducing gene 11 protein; MOCOD; MOCODA; MOCS1A; MOCS1A enzyme; MOCS1B; molybdenum cofactor biosynthesis protein 1; molybdenum cofactor biosynthesis protein A; molybdenum cofactor synthesis-step 1 protein A-B
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: MOCS1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl639,899,578 - 39,934,551 (-)EnsemblGRCh38hg38GRCh38
GRCh38639,904,170 - 39,934,462 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37639,872,034 - 39,902,290 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36639,981,072 - 40,010,196 (-)NCBINCBI36hg18NCBI36
Celera641,425,262 - 41,455,518 (-)NCBI
Cytogenetic Map6p21.2NCBI
HuRef639,589,847 - 39,620,839 (-)NCBIHuRef
CHM1_1639,874,626 - 39,904,861 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8889548   PMID:9634514   PMID:9812897   PMID:10053004   PMID:10327149   PMID:10917590   PMID:11891227   PMID:12208140   PMID:12477932   PMID:14574404   PMID:14702039   PMID:15146197  
PMID:15180982   PMID:15489334   PMID:16021469   PMID:16429380   PMID:17065069   PMID:19544009   PMID:19793632   PMID:21031595   PMID:21285035   PMID:21988832   PMID:23122324   PMID:26186194  
PMID:26354767   PMID:26544196   PMID:27145839   PMID:28514442   PMID:29368224   PMID:30021884   PMID:31477743   PMID:31996372  


Genomics

Comparative Map Data
MOCS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl639,899,578 - 39,934,551 (-)EnsemblGRCh38hg38GRCh38
GRCh38639,904,170 - 39,934,462 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37639,872,034 - 39,902,290 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36639,981,072 - 40,010,196 (-)NCBINCBI36hg18NCBI36
Celera641,425,262 - 41,455,518 (-)NCBI
Cytogenetic Map6p21.2NCBI
HuRef639,589,847 - 39,620,839 (-)NCBIHuRef
CHM1_1639,874,626 - 39,904,861 (-)NCBICHM1_1
Mocs1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391749,735,378 - 49,762,463 (+)NCBIGRCm39mm39
GRCm381749,428,350 - 49,455,435 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1749,428,362 - 49,455,435 (+)EnsemblGRCm38mm10GRCm38
MGSCv371749,567,689 - 49,594,755 (+)NCBIGRCm37mm9NCBIm37
MGSCv361748,917,808 - 48,920,997 (+)NCBImm8
Celera1752,857,373 - 52,876,826 (+)NCBICelera
Cytogenetic Map17CNCBI
Mocs1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0913,493,705 - 13,513,972 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl913,493,709 - 13,513,960 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0912,426,594 - 12,452,999 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.496,759,531 - 6,779,930 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.196,760,110 - 7,013,161 (-)NCBI
Celera99,321,644 - 9,341,714 (-)NCBICelera
Cytogenetic Map9q12NCBI
Mocs1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554376,840,451 - 6,870,685 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554376,840,451 - 6,870,685 (-)NCBIChiLan1.0ChiLan1.0
MOCS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1640,799,858 - 40,829,346 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl640,799,858 - 40,829,346 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0639,489,310 - 39,519,012 (-)NCBIMhudiblu_PPA_v0panPan3
MOCS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl128,779,428 - 8,837,452 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1128,802,506 - 8,837,242 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Mocs1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493647619,743,052 - 19,771,132 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MOCS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl735,287,365 - 35,320,932 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1735,286,565 - 35,320,935 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2740,416,831 - 40,451,229 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MOCS1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11732,224,211 - 32,252,244 (+)NCBI
Mocs1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475418,491,970 - 18,524,741 (+)NCBI

Position Markers
RH78586  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37639,872,313 - 39,872,467UniSTSGRCh37
Build 36639,980,291 - 39,980,445RGDNCBI36
Celera641,425,541 - 41,425,695RGD
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p21.3UniSTS
HuRef639,590,126 - 39,590,284UniSTS
GeneMap99-GB4 RH Map6158.94UniSTS
RH15815  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37639,873,124 - 39,873,309UniSTSGRCh37
Build 36639,981,102 - 39,981,287RGDNCBI36
Celera641,426,352 - 41,426,537RGD
Cytogenetic Map6p21.3UniSTS
HuRef639,590,941 - 39,591,126UniSTS
GeneMap99-GB4 RH Map6147.67UniSTS
NCBI RH Map6615.3UniSTS
DAAM2_3802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37639,871,948 - 39,872,817UniSTSGRCh37
Build 36639,979,926 - 39,980,795RGDNCBI36
Celera641,425,176 - 41,426,045RGD
HuRef639,589,761 - 39,590,634UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7638
Count of miRNA genes:1114
Interacting mature miRNAs:1360
Transcripts:ENST00000308559, ENST00000340692, ENST00000373175, ENST00000373181, ENST00000373186, ENST00000373188, ENST00000373195, ENST00000425303, ENST00000432280, ENST00000473742, ENST00000487924
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2117 2091 1484 468 215 385 3744 1931 1668 313 892 1357 87 1 1204 2467 5 2
Low 263 277 240 155 756 76 608 261 2065 104 547 212 85 321 1
Below cutoff 20 622 2 1 796 1 3 1 1 2 7 25 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001075098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001358529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001358530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001358531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001358533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001358534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB037884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF034374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF214015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF214022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF214023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI122656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ224328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ293577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ293578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ293579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ404969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV724791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY423726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA944911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN267723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX787499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC377054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC410181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FO393411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000340692   ⟹   ENSP00000344794
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl639,904,170 - 39,934,462 (-)Ensembl
RefSeq Acc Id: ENST00000373181   ⟹   ENSP00000362277
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl639,899,578 - 39,932,432 (-)Ensembl
RefSeq Acc Id: ENST00000373188   ⟹   ENSP00000362284
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl639,905,059 - 39,934,551 (-)Ensembl
RefSeq Acc Id: ENST00000373195   ⟹   ENSP00000362291
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl639,905,321 - 39,934,497 (-)Ensembl
RefSeq Acc Id: ENST00000425303
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl639,906,357 - 39,927,587 (-)Ensembl
RefSeq Acc Id: ENST00000432280
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl639,909,047 - 39,927,578 (-)Ensembl
RefSeq Acc Id: ENST00000473742
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl639,913,708 - 39,934,424 (-)Ensembl
RefSeq Acc Id: ENST00000487924   ⟹   ENSP00000418315
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl639,925,717 - 39,934,459 (-)Ensembl
RefSeq Acc Id: ENST00000645522
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl639,904,165 - 39,927,716 (-)Ensembl
RefSeq Acc Id: NM_001075098   ⟹   NP_001068566
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38639,904,170 - 39,934,462 (-)NCBI
GRCh37639,872,034 - 39,902,290 (-)ENTREZGENE
GRCh37639,872,034 - 39,902,290 (-)NCBI
Build 36639,981,072 - 40,010,196 (-)NCBI Archive
HuRef639,589,847 - 39,620,839 (-)ENTREZGENE
CHM1_1639,874,626 - 39,904,861 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001358529   ⟹   NP_001345458
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38639,904,170 - 39,934,462 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001358530   ⟹   NP_001345459
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38639,904,170 - 39,934,462 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001358531   ⟹   NP_001345460
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38639,904,170 - 39,934,462 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001358533   ⟹   NP_001345462
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38639,904,170 - 39,934,462 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001358534   ⟹   NP_001345463
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38639,904,170 - 39,934,223 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005943   ⟹   NP_005934
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38639,904,170 - 39,927,716 (-)NCBI
GRCh37639,872,034 - 39,902,290 (-)ENTREZGENE
GRCh37639,872,034 - 39,902,290 (-)NCBI
Build 36639,981,138 - 40,003,433 (-)NCBI Archive
HuRef639,589,847 - 39,620,839 (-)ENTREZGENE
CHM1_1639,874,626 - 39,898,027 (-)NCBI
Sequence:
RefSeq Acc Id: NR_033233
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38639,904,170 - 39,934,462 (-)NCBI
GRCh37639,872,034 - 39,902,290 (-)NCBI
HuRef639,589,847 - 39,620,839 (-)ENTREZGENE
CHM1_1639,874,626 - 39,904,861 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001068566 (Get FASTA)   NCBI Sequence Viewer  
  NP_001345458 (Get FASTA)   NCBI Sequence Viewer  
  NP_001345459 (Get FASTA)   NCBI Sequence Viewer  
  NP_001345460 (Get FASTA)   NCBI Sequence Viewer  
  NP_001345462 (Get FASTA)   NCBI Sequence Viewer  
  NP_001345463 (Get FASTA)   NCBI Sequence Viewer  
  NP_005934 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB87523 (Get FASTA)   NCBI Sequence Viewer  
  AAB87524 (Get FASTA)   NCBI Sequence Viewer  
  AAF67843 (Get FASTA)   NCBI Sequence Viewer  
  AAF67844 (Get FASTA)   NCBI Sequence Viewer  
  AAF67857 (Get FASTA)   NCBI Sequence Viewer  
  AAF67858 (Get FASTA)   NCBI Sequence Viewer  
  AAH36839 (Get FASTA)   NCBI Sequence Viewer  
  AAS00489 (Get FASTA)   NCBI Sequence Viewer  
  BAG51799 (Get FASTA)   NCBI Sequence Viewer  
  BAG62053 (Get FASTA)   NCBI Sequence Viewer  
  CAA11897 (Get FASTA)   NCBI Sequence Viewer  
  CAA11898 (Get FASTA)   NCBI Sequence Viewer  
  CAC44526 (Get FASTA)   NCBI Sequence Viewer  
  CAC44527 (Get FASTA)   NCBI Sequence Viewer  
  CAI20007 (Get FASTA)   NCBI Sequence Viewer  
  CAI20008 (Get FASTA)   NCBI Sequence Viewer  
  CAI20009 (Get FASTA)   NCBI Sequence Viewer  
  CAI20011 (Get FASTA)   NCBI Sequence Viewer  
  CAI20012 (Get FASTA)   NCBI Sequence Viewer  
  CAI20013 (Get FASTA)   NCBI Sequence Viewer  
  CAI20014 (Get FASTA)   NCBI Sequence Viewer  
  CAI20015 (Get FASTA)   NCBI Sequence Viewer  
  EAX03998 (Get FASTA)   NCBI Sequence Viewer  
  EAX03999 (Get FASTA)   NCBI Sequence Viewer  
  EAX04000 (Get FASTA)   NCBI Sequence Viewer  
  EAX04001 (Get FASTA)   NCBI Sequence Viewer  
  EAX04002 (Get FASTA)   NCBI Sequence Viewer  
  Q9NZB8 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001068566   ⟸   NM_001075098
- Peptide Label: isoform 4
- UniProtKB: Q9NZB8 (UniProtKB/Swiss-Prot),   A0A024RD17 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_005934   ⟸   NM_005943
- Peptide Label: isoform 1
- UniProtKB: Q9NZB8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001345460   ⟸   NM_001358531
- Peptide Label: isoform 8
- Sequence:
RefSeq Acc Id: NP_001345462   ⟸   NM_001358533
- Peptide Label: isoform 9
- Sequence:
RefSeq Acc Id: NP_001345458   ⟸   NM_001358529
- Peptide Label: isoform 6
- Sequence:
RefSeq Acc Id: NP_001345459   ⟸   NM_001358530
- Peptide Label: isoform 7
- Sequence:
RefSeq Acc Id: NP_001345463   ⟸   NM_001358534
- Peptide Label: isoform 9
- Sequence:
RefSeq Acc Id: ENSP00000362291   ⟸   ENST00000373195
RefSeq Acc Id: ENSP00000362277   ⟸   ENST00000373181
RefSeq Acc Id: ENSP00000362284   ⟸   ENST00000373188
RefSeq Acc Id: ENSP00000344794   ⟸   ENST00000340692
RefSeq Acc Id: ENSP00000418315   ⟸   ENST00000487924
Protein Domains
Elp3   Mob_synth_C

Promoters
RGD ID:7207949
Promoter ID:EPDNEW_H9720
Type:initiation region
Name:MOCS1_1
Description:molybdenum cofactor synthesis 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38639,934,462 - 39,934,522EPDNEW
RGD ID:6804464
Promoter ID:HG_KWN:53484
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000340692,   ENST00000341481,   ENST00000373181,   NM_001075098,   NR_033233
Position:
Human AssemblyChrPosition (strand)Source
Build 36640,009,876 - 40,010,376 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001358530.2(MOCS1):c.956G>A (p.Arg319Gln) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000006493] Chr6:39912289 [GRCh38]
Chr6:39880033 [GRCh37]
Chr6:6p21.2
pathogenic
NM_001358530.2(MOCS1):c.217C>T (p.Arg73Trp) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000006495] Chr6:39927362 [GRCh38]
Chr6:39895101 [GRCh37]
Chr6:6p21.2
pathogenic
NM_001358530.2(MOCS1):c.722del (p.Leu241fs) deletion Molybdenum cofactor deficiency, complementation group A [RCV000006491] Chr6:39913352 [GRCh38]
Chr6:39881096 [GRCh37]
Chr6:6p21.2
pathogenic
NM_001358530.2(MOCS1):c.1506_1507AG[1] (p.Glu503fs) microsatellite Molybdenum cofactor deficiency, complementation group A [RCV000006492] Chr6:39906759..39906760 [GRCh38]
Chr6:39874535..39874536 [GRCh37]
Chr6:6p21.2
pathogenic|likely pathogenic
NM_001358530.2(MOCS1):c.418+1G>A single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000006494]|not provided [RCV000732511] Chr6:39925677 [GRCh38]
Chr6:39893421 [GRCh37]
Chr6:6p21.2
pathogenic
NM_001075098.3(MOCS1):c.267C>T (p.Pro89=) single nucleotide variant Lung cancer [RCV000096858] Chr6:39925829 [GRCh38]
Chr6:39893573 [GRCh37]
Chr6:6p21.2
uncertain significance
GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1 copy number loss See cases [RCV000052181] Chr6:37777369..45653843 [GRCh38]
Chr6:37745145..45621580 [GRCh37]
Chr6:37853123..45729558 [NCBI36]
Chr6:6p21.2-21.1
pathogenic
GRCh38/hg38 6p21.2(chr6:39127448-40287232)x3 copy number gain See cases [RCV000134152] Chr6:39127448..40287232 [GRCh38]
Chr6:39095224..40254971 [GRCh37]
Chr6:39203202..40362949 [NCBI36]
Chr6:6p21.2
likely benign|uncertain significance
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3
pathogenic
NM_001358530.2(MOCS1):c.1102+1G>A single nucleotide variant not provided [RCV000254772] Chr6:39909834 [GRCh38]
Chr6:39877578 [GRCh37]
Chr6:6p21.2
pathogenic
NM_001358530.2(MOCS1):c.330C>T (p.Leu110=) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000642135] Chr6:39925766 [GRCh38]
Chr6:39893510 [GRCh37]
Chr6:6p21.2
benign|likely benign
NM_001358530.2(MOCS1):c.1715G>A (p.Arg572His) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000265070] Chr6:39906553 [GRCh38]
Chr6:39874329 [GRCh37]
Chr6:6p21.2
benign|uncertain significance
NM_001358530.2(MOCS1):c.*1348_*1351dup duplication Combined molybdoflavoprotein enzyme deficiency [RCV000262425] Chr6:39905005..39905006 [GRCh38]
Chr6:39872781..39872782 [GRCh37]
Chr6:6p21.2
likely benign
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) single nucleotide variant Intellectual disability [RCV001252317]|Molybdenum cofactor deficiency, complementation group A [RCV000714706]|not provided [RCV000415797] Chr6:39912909 [GRCh38]
Chr6:39880653 [GRCh37]
Chr6:6p21.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001358530.2(MOCS1):c.426C>T (p.Leu142=) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000273845] Chr6:39916225 [GRCh38]
Chr6:39883969 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*1424C>G single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000275416] Chr6:39904933 [GRCh38]
Chr6:39872709 [GRCh37]
Chr6:6p21.2
likely benign|uncertain significance
NM_001358530.2(MOCS1):c.1316G>A (p.Arg439Gln) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000276680] Chr6:39906952 [GRCh38]
Chr6:39874728 [GRCh37]
Chr6:6p21.2
benign|likely benign
NM_001358530.2(MOCS1):c.*734C>G single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000266582] Chr6:39905623 [GRCh38]
Chr6:39873399 [GRCh37]
Chr6:6p21.2
benign|likely benign
NM_001358530.2(MOCS1):c.*987C>T single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000313809] Chr6:39905370 [GRCh38]
Chr6:39873146 [GRCh37]
Chr6:6p21.2
benign|likely benign
NM_001358530.2(MOCS1):c.*1002C>T single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000344116] Chr6:39905355 [GRCh38]
Chr6:39873131 [GRCh37]
Chr6:6p21.2
benign|likely benign
NM_001358530.2(MOCS1):c.*908_*911AATC[5] microsatellite Combined molybdoflavoprotein enzyme deficiency [RCV000368461] Chr6:39905433..39905434 [GRCh38]
Chr6:39873209..39873210 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.1800C>T (p.Ala600=) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000394970] Chr6:39906468 [GRCh38]
Chr6:39874244 [GRCh37]
Chr6:6p21.2
benign|likely benign
NM_001358530.2(MOCS1):c.*664T>C single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000321743] Chr6:39905693 [GRCh38]
Chr6:39873469 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*824C>G single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000300405] Chr6:39905533 [GRCh38]
Chr6:39873309 [GRCh37]
Chr6:6p21.2
benign|likely benign
NM_001358530.2(MOCS1):c.*2A>G single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000335215] Chr6:39906355 [GRCh38]
Chr6:39874131 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*908_*911AATC[3] microsatellite Combined molybdoflavoprotein enzyme deficiency [RCV000399915] Chr6:39905434..39905437 [GRCh38]
Chr6:39873210..39873213 [GRCh37]
Chr6:6p21.2
likely benign
NM_001358530.2(MOCS1):c.152G>T (p.Arg51Leu) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000285478] Chr6:39927427 [GRCh38]
Chr6:39895166 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.1413C>T (p.Ala471=) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000270901] Chr6:39906855 [GRCh38]
Chr6:39874631 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.1028G>A (p.Arg343Gln) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000373399] Chr6:39909909 [GRCh38]
Chr6:39877653 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.358G>C (p.Asp120His) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000373743] Chr6:39925738 [GRCh38]
Chr6:39893482 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*1660_*1663ATAG[3] microsatellite Combined molybdoflavoprotein enzyme deficiency [RCV000337835] Chr6:39904689..39904690 [GRCh38]
Chr6:39872465..39872466 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.175G>T (p.Ala59Ser) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000379955] Chr6:39927404 [GRCh38]
Chr6:39895143 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.1367A>T (p.Asp456Val) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000325932] Chr6:39906901 [GRCh38]
Chr6:39874677 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*523_*527TCCTG[4] microsatellite Combined molybdoflavoprotein enzyme deficiency [RCV000326910] Chr6:39905819..39905820 [GRCh38]
Chr6:39873595..39873596 [GRCh37]
Chr6:6p21.2
likely benign
NM_001358530.2(MOCS1):c.*1136A>C single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000286898] Chr6:39905221 [GRCh38]
Chr6:39872997 [GRCh37]
Chr6:6p21.2
benign|likely benign
NM_001358530.2(MOCS1):c.421C>G (p.Gln141Glu) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000319610] Chr6:39916230 [GRCh38]
Chr6:39883974 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.758-9C>T single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000403837]|not provided [RCV000902879] Chr6:39913013 [GRCh38]
Chr6:39880757 [GRCh37]
Chr6:6p21.2
likely benign|uncertain significance
NM_001358530.2(MOCS1):c.*1003G>A single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000288956] Chr6:39905354 [GRCh38]
Chr6:39873130 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.1788T>G (p.Ser596=) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000304951] Chr6:39906480 [GRCh38]
Chr6:39874256 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*1893G>C single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000339829] Chr6:39904464 [GRCh38]
Chr6:39872240 [GRCh37]
Chr6:6p21.2
benign|likely benign
NM_001358530.2(MOCS1):c.716T>A (p.Leu239His) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000339680] Chr6:39913358 [GRCh38]
Chr6:39881102 [GRCh37]
Chr6:6p21.2
benign|likely benign
NM_001358530.2(MOCS1):c.*578C>T single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000290491] Chr6:39905779 [GRCh38]
Chr6:39873555 [GRCh37]
Chr6:6p21.2
benign|uncertain significance
NM_001358530.2(MOCS1):c.645+9G>C single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000960562] Chr6:39913765 [GRCh38]
Chr6:39881509 [GRCh37]
Chr6:6p21.2
benign|likely benign
NM_001358530.2(MOCS1):c.*1405G>C single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000330404] Chr6:39904952 [GRCh38]
Chr6:39872728 [GRCh37]
Chr6:6p21.2
benign|likely benign
NM_001358530.2(MOCS1):c.*1113T>G single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000377926] Chr6:39905244 [GRCh38]
Chr6:39873020 [GRCh37]
Chr6:6p21.2
benign|likely benign
NM_001358530.2(MOCS1):c.124-216A>G single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000321815] Chr6:39927671 [GRCh38]
Chr6:39895410 [GRCh37]
Chr6:6p21.2
benign
NM_001358530.2(MOCS1):c.1687C>G (p.Gln563Glu) single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000309763] Chr6:39906581 [GRCh38]
Chr6:39874357 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*1445C>T single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000401397] Chr6:39904912 [GRCh38]
Chr6:39872688 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*1909A>G single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000291928] Chr6:39904448 [GRCh38]
Chr6:39872224 [GRCh37]
Chr6:6p21.2
likely benign
NM_001358530.2(MOCS1):c.583+10T>A single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000362426] Chr6:39916058 [GRCh38]
Chr6:39883802 [GRCh37]
Chr6:6p21.2
benign|likely benign
NM_001358530.2(MOCS1):c.1212G>C (p.Pro404=) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000386186] Chr6:39907056 [GRCh38]
Chr6:39874832 [GRCh37]
Chr6:6p21.2
benign|likely benign
NM_001358530.2(MOCS1):c.*477C>T single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000381477] Chr6:39905880 [GRCh38]
Chr6:39873656 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*378G>A single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000292889] Chr6:39905979 [GRCh38]
Chr6:39873755 [GRCh37]
Chr6:6p21.2
benign|likely benign
NM_001358530.2(MOCS1):c.*1857G>A single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000343518] Chr6:39904500 [GRCh38]
Chr6:39872276 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*400C>T single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000387097] Chr6:39905957 [GRCh38]
Chr6:39873733 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*1928C>G single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000384005] Chr6:39904429 [GRCh38]
Chr6:39872205 [GRCh37]
Chr6:6p21.2
benign|likely benign
NM_001358530.2(MOCS1):c.583+6C>T single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000277247] Chr6:39916062 [GRCh38]
Chr6:39883806 [GRCh37]
Chr6:6p21.2
benign|likely benign
NM_001358530.2(MOCS1):c.520G>A (p.Ala174Thr) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000313707]|not provided [RCV000998595] Chr6:39916131 [GRCh38]
Chr6:39883875 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*1942C>T single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000326774] Chr6:39904415 [GRCh38]
Chr6:39872191 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.981+12C>T single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000278880] Chr6:39912252 [GRCh38]
Chr6:39879996 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.1169C>A (p.Pro390His) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000337333] Chr6:39907099 [GRCh38]
Chr6:39874875 [GRCh37]
Chr6:6p21.2
benign|likely benign
NM_001358530.2(MOCS1):c.1752G>A (p.Arg584=) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000359757] Chr6:39906516 [GRCh38]
Chr6:39874292 [GRCh37]
Chr6:6p21.2
likely benign|uncertain significance
NM_001358530.2(MOCS1):c.519T>G (p.Ser173Arg) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000955358] Chr6:39916132 [GRCh38]
Chr6:39883876 [GRCh37]
Chr6:6p21.2
likely benign|uncertain significance
NM_001358530.2(MOCS1):c.*1628C>T single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000369242] Chr6:39904729 [GRCh38]
Chr6:39872505 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*762G>A single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000316000] Chr6:39905595 [GRCh38]
Chr6:39873371 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.264G>A (p.Met88Ile) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000316093]|not provided [RCV000498654] Chr6:39925832 [GRCh38]
Chr6:39893576 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*327G>A single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000338777] Chr6:39906030 [GRCh38]
Chr6:39873806 [GRCh37]
Chr6:6p21.2
likely benign|uncertain significance
NM_001358530.2(MOCS1):c.*451C>T single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000296249] Chr6:39905906 [GRCh38]
Chr6:39873682 [GRCh37]
Chr6:6p21.2
benign|likely benign
NM_001358530.2(MOCS1):c.*1433T>A single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000370028] Chr6:39904924 [GRCh38]
Chr6:39872700 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.698C>T (p.Ala233Val) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000393365] Chr6:39913376 [GRCh38]
Chr6:39881120 [GRCh37]
Chr6:6p21.2
benign|likely benign
NM_001358530.2(MOCS1):c.*1660_*1663ATAG[1] microsatellite Combined molybdoflavoprotein enzyme deficiency [RCV000393392] Chr6:39904690..39904693 [GRCh38]
Chr6:39872466..39872469 [GRCh37]
Chr6:6p21.2
likely benign
NM_001358530.2(MOCS1):c.1355G>T (p.Arg452Leu) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000389781] Chr6:39906913 [GRCh38]
Chr6:39874689 [GRCh37]
Chr6:6p21.2
benign|likely benign
NM_001358530.2(MOCS1):c.*1629G>T single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000312167] Chr6:39904728 [GRCh38]
Chr6:39872504 [GRCh37]
Chr6:6p21.2
benign
NM_001358530.2(MOCS1):c.*135T>G single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000394976] Chr6:39906222 [GRCh38]
Chr6:39873998 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*84A>G single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000298920] Chr6:39906273 [GRCh38]
Chr6:39874049 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*1334A>C single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000317583] Chr6:39905023 [GRCh38]
Chr6:39872799 [GRCh37]
Chr6:6p21.2
benign|likely benign
NM_001358530.2(MOCS1):c.*1305C>T single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000372038] Chr6:39905052 [GRCh38]
Chr6:39872828 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*990T>C single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000395842] Chr6:39905367 [GRCh38]
Chr6:39873143 [GRCh37]
Chr6:6p21.2
likely benign|uncertain significance
NM_001358530.2(MOCS1):c.1211C>T (p.Pro404Leu) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000282363] Chr6:39907057 [GRCh38]
Chr6:39874833 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*1067A>C single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000283137] Chr6:39905290 [GRCh38]
Chr6:39873066 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*759_*761dup duplication Combined molybdoflavoprotein enzyme deficiency [RCV000260813] Chr6:39905595..39905596 [GRCh38]
Chr6:39873371..39873372 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*1866_*1870dup duplication Combined molybdoflavoprotein enzyme deficiency [RCV000286216] Chr6:39904486..39904487 [GRCh38]
Chr6:39872262..39872263 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.604_624del (p.Gly202_Glu208del) deletion not provided [RCV000352080] Chr6:39913795..39913815 [GRCh38]
Chr6:39881539..39881559 [GRCh37]
Chr6:6p21.2
pathogenic
NM_001358530.2(MOCS1):c.*1389dup duplication Combined molybdoflavoprotein enzyme deficiency [RCV000357230] Chr6:39904967..39904968 [GRCh38]
Chr6:39872743..39872744 [GRCh37]
Chr6:6p21.2
likely benign
NM_001358530.2(MOCS1):c.*1775_*1778dup duplication Combined molybdoflavoprotein enzyme deficiency [RCV000393387] Chr6:39904578..39904579 [GRCh38]
Chr6:39872354..39872355 [GRCh37]
Chr6:6p21.2
benign
NM_001358530.2(MOCS1):c.*1711G>A single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000280319] Chr6:39904646 [GRCh38]
Chr6:39872422 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*739C>T single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000361302] Chr6:39905618 [GRCh38]
Chr6:39873394 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.729G>A (p.Val243=) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000303508] Chr6:39913345 [GRCh38]
Chr6:39881089 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*1436C>T single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000315342] Chr6:39904921 [GRCh38]
Chr6:39872697 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.1282A>G (p.Arg428Gly) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000331664] Chr6:39906986 [GRCh38]
Chr6:39874762 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.1628C>A (p.Ala543Glu) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000364460] Chr6:39906640 [GRCh38]
Chr6:39874416 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*1062_*1063dup duplication Combined molybdoflavoprotein enzyme deficiency [RCV000347441] Chr6:39905293..39905294 [GRCh38]
Chr6:39873069..39873070 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*638C>G single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000384934] Chr6:39905719 [GRCh38]
Chr6:39873495 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*1063T>A single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000405167] Chr6:39905294 [GRCh38]
Chr6:39873070 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*423C>A single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000351174] Chr6:39905934 [GRCh38]
Chr6:39873710 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*1117A>C single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000323221] Chr6:39905240 [GRCh38]
Chr6:39873016 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*771_*772dup duplication Combined molybdoflavoprotein enzyme deficiency [RCV000355279] Chr6:39905584..39905585 [GRCh38]
Chr6:39873360..39873361 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*1878G>A single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000378094] Chr6:39904479 [GRCh38]
Chr6:39872255 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.1A>C (p.Met1Leu) single nucleotide variant not provided [RCV000522037] Chr6:39934417 [GRCh38]
Chr6:39902156 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.124-69G>A single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000605979]|not provided [RCV000415763] Chr6:39927524 [GRCh38]
Chr6:39895263 [GRCh37]
Chr6:6p21.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp) single nucleotide variant Intellectual disability [RCV001252080]|Molybdenum cofactor deficiency, complementation group A [RCV000987692]|not provided [RCV000416188] Chr6:39909922 [GRCh38]
Chr6:39877666 [GRCh37]
Chr6:6p21.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_001358530.2(MOCS1):c.1064T>C (p.Ile355Thr) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000642134] Chr6:39909873 [GRCh38]
Chr6:39877617 [GRCh37]
Chr6:6p21.2
uncertain significance
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1
pathogenic
NM_001358530.2(MOCS1):c.162G>A (p.Ala54=) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001155455]|not provided [RCV000642136] Chr6:39927417 [GRCh38]
Chr6:39895156 [GRCh37]
Chr6:6p21.2
likely benign|uncertain significance
NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000642133] Chr6:39909055 [GRCh38]
Chr6:39876831 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.717C>A (p.Leu239=) single nucleotide variant not provided [RCV000642137] Chr6:39913357 [GRCh38]
Chr6:39881101 [GRCh37]
Chr6:6p21.2
likely benign
NM_001358530.2(MOCS1):c.156G>C (p.Glu52Asp) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000701777] Chr6:39927423 [GRCh38]
Chr6:39895162 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.1126A>T (p.Lys376Ter) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000721979] Chr6:39909079 [GRCh38]
Chr6:39876855 [GRCh37]
Chr6:6p21.2
likely pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_001358530.2(MOCS1):c.1150+20G>A single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000853363] Chr6:39909035 [GRCh38]
Chr6:39876811 [GRCh37]
Chr6:6p21.2
likely pathogenic
NM_001358530.2(MOCS1):c.200G>A (p.Arg67Gln) single nucleotide variant not provided [RCV000762410] Chr6:39927379 [GRCh38]
Chr6:39895118 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.719C>T (p.Pro240Leu) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001040457] Chr6:39913355 [GRCh38]
Chr6:39881099 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.1000dup (p.Ser334fs) duplication Molybdenum cofactor deficiency, complementation group A [RCV001039635] Chr6:39909936..39909937 [GRCh38]
Chr6:39877680..39877681 [GRCh37]
Chr6:6p21.2
pathogenic
NM_001358530.2(MOCS1):c.1106T>A (p.Met369Lys) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001060714] Chr6:39909099 [GRCh38]
Chr6:39876875 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.1102+1_1102+2del deletion Molybdenum cofactor deficiency, complementation group A [RCV000779503] Chr6:39909833..39909834 [GRCh38]
Chr6:39877577..39877578 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.644A>G (p.Lys215Arg) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000818502] Chr6:39913775 [GRCh38]
Chr6:39881519 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.1016G>A (p.Arg339Gln) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000798315] Chr6:39909921 [GRCh38]
Chr6:39877665 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.814C>T (p.Arg272Trp) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000794922] Chr6:39912948 [GRCh38]
Chr6:39880692 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*756A>C single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001151386] Chr6:39905601 [GRCh38]
Chr6:39873377 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.394C>T (p.Arg132Trp) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001154614]|not provided [RCV000998597] Chr6:39925702 [GRCh38]
Chr6:39893446 [GRCh37]
Chr6:6p21.2
likely pathogenic|uncertain significance
NM_001358530.2(MOCS1):c.1468C>T (p.Arg490Trp) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000987691] Chr6:39906800 [GRCh38]
Chr6:39874576 [GRCh37]
Chr6:6p21.2
likely benign
NM_001358530.2(MOCS1):c.544C>A (p.Leu182Met) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001235403] Chr6:39916107 [GRCh38]
Chr6:39883851 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.616G>A (p.Ala206Thr) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001211282] Chr6:39913803 [GRCh38]
Chr6:39881547 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.377G>A (p.Gly126Asp) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV000853356] Chr6:39925719 [GRCh38]
Chr6:39893463 [GRCh37]
Chr6:6p21.2
likely pathogenic
GRCh37/hg19 6p21.2(chr6:39895018-39942774)x4 copy number gain not provided [RCV000846789] Chr6:39895018..39942774 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*1752C>G single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001154320] Chr6:39904605 [GRCh38]
Chr6:39872381 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*1502A>G single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001154322] Chr6:39904855 [GRCh38]
Chr6:39872631 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*523T>C single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001154414] Chr6:39905834 [GRCh38]
Chr6:39873610 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.1132C>G (p.Arg378Gly) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001154513] Chr6:39909073 [GRCh38]
Chr6:39876849 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.339C>T (p.Leu113=) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001154615] Chr6:39925757 [GRCh38]
Chr6:39893501 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*1832G>A single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001151252] Chr6:39904525 [GRCh38]
Chr6:39872301 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.1668C>T (p.His556=) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001151489] Chr6:39906600 [GRCh38]
Chr6:39874376 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.77C>T (p.Pro26Leu) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001244655] Chr6:39934341 [GRCh38]
Chr6:39902080 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*659A>G single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001154412] Chr6:39905698 [GRCh38]
Chr6:39873474 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.1315C>T (p.Arg439Trp) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001154511] Chr6:39906953 [GRCh38]
Chr6:39874729 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.398C>T (p.Pro133Leu) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001233968] Chr6:39925698 [GRCh38]
Chr6:39893442 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.439G>A (p.Gly147Arg) single nucleotide variant not provided [RCV000998596] Chr6:39916212 [GRCh38]
Chr6:39883956 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.774C>T (p.Phe258=) single nucleotide variant not provided [RCV000936031] Chr6:39912988 [GRCh38]
Chr6:39880732 [GRCh37]
Chr6:6p21.2
likely benign
NM_001358530.2(MOCS1):c.*1954G>A single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001156701] Chr6:39904403 [GRCh38]
Chr6:39872179 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*1307A>G single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001155154] Chr6:39905050 [GRCh38]
Chr6:39872826 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*282T>C single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001155250] Chr6:39906075 [GRCh38]
Chr6:39873851 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*142C>G single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001155251] Chr6:39906215 [GRCh38]
Chr6:39873991 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*76T>C single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001156916] Chr6:39906281 [GRCh38]
Chr6:39874057 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.583+12T>C single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001157020] Chr6:39916056 [GRCh38]
Chr6:39883800 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.707C>T (p.Thr236Ile) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001157019] Chr6:39913367 [GRCh38]
Chr6:39881111 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*1046A>T single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001156811] Chr6:39905311 [GRCh38]
Chr6:39873087 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.1098T>G (p.His366Gln) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001154514] Chr6:39909839 [GRCh38]
Chr6:39877583 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*1835T>G single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001151251] Chr6:39904522 [GRCh38]
Chr6:39872298 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*826A>C single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001151384] Chr6:39905531 [GRCh38]
Chr6:39873307 [GRCh37]
Chr6:6p21.2
likely benign
NM_001358530.2(MOCS1):c.*803C>T single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001151385] Chr6:39905554 [GRCh38]
Chr6:39873330 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.301C>T (p.Leu101=) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001154616] Chr6:39925795 [GRCh38]
Chr6:39893539 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*120C>T single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001155252] Chr6:39906237 [GRCh38]
Chr6:39874013 [GRCh37]
Chr6:6p21.2
likely benign
NM_001358530.2(MOCS1):c.*1629G>A single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001154321] Chr6:39904728 [GRCh38]
Chr6:39872504 [GRCh37]
Chr6:6p21.2
likely benign
NM_001358530.2(MOCS1):c.124-167C>T single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001155456] Chr6:39927622 [GRCh38]
Chr6:39895361 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*1341T>A single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001155153] Chr6:39905016 [GRCh38]
Chr6:39872792 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.124-176A>T single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001155457] Chr6:39927631 [GRCh38]
Chr6:39895370 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.253C>T (p.Gln85Ter) single nucleotide variant not provided [RCV001169946] Chr6:39925843 [GRCh38]
Chr6:39893587 [GRCh37]
Chr6:6p21.2
pathogenic
NM_001358530.2(MOCS1):c.1400G>A (p.Trp467Ter) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001151490] Chr6:39906868 [GRCh38]
Chr6:39874644 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.1362C>T (p.Asp454=) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001151491] Chr6:39906906 [GRCh38]
Chr6:39874682 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.583+7G>A single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001157021] Chr6:39916061 [GRCh38]
Chr6:39883805 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*1808G>A single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001154319] Chr6:39904549 [GRCh38]
Chr6:39872325 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.1226G>A (p.Gly409Asp) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001154512] Chr6:39907042 [GRCh38]
Chr6:39874818 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.282G>A (p.Pro94=) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001154617] Chr6:39925814 [GRCh38]
Chr6:39893558 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*326C>T single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001155249] Chr6:39906031 [GRCh38]
Chr6:39873807 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.1822T>C (p.Cys608Arg) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001250047] Chr6:39906446 [GRCh38]
Chr6:39874222 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.868A>C (p.Lys290Gln) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001155335] Chr6:39912894 [GRCh38]
Chr6:39880638 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*1911C>A single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001151249] Chr6:39904446 [GRCh38]
Chr6:39872222 [GRCh37]
Chr6:6p21.2
likely benign
NM_001358530.2(MOCS1):c.*1884G>A single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001151250] Chr6:39904473 [GRCh38]
Chr6:39872249 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*888C>T single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001151383] Chr6:39905469 [GRCh38]
Chr6:39873245 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*2074A>G single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001156700] Chr6:39904283 [GRCh38]
Chr6:39872059 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.1714C>T (p.Arg572Cys) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001156917] Chr6:39906554 [GRCh38]
Chr6:39874330 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.*633C>T single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001154413] Chr6:39905724 [GRCh38]
Chr6:39873500 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.431G>A (p.Arg144Gln) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001253962] Chr6:39916220 [GRCh38]
Chr6:39883964 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.430C>T (p.Arg144Trp) single nucleotide variant Intellectual disability [RCV001252077] Chr6:39916221 [GRCh38]
Chr6:39883965 [GRCh37]
Chr6:6p21.2
likely benign
NM_001358530.2(MOCS1):c.485G>A (p.Arg162Gln) single nucleotide variant Intellectual disability [RCV001252079] Chr6:39916166 [GRCh38]
Chr6:39883910 [GRCh37]
Chr6:6p21.2
likely benign
NM_001358530.2(MOCS1):c.455G>A (p.Gly152Asp) single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001253961] Chr6:39916196 [GRCh38]
Chr6:39883940 [GRCh37]
Chr6:6p21.2
likely benign
NM_001358530.2(MOCS1):c.418+3G>A single nucleotide variant Molybdenum cofactor deficiency, complementation group A [RCV001253963] Chr6:39925675 [GRCh38]
Chr6:39893419 [GRCh37]
Chr6:6p21.2
uncertain significance
NM_001358530.2(MOCS1):c.112G>C (p.Ala38Pro) single nucleotide variant Intellectual disability [RCV001252078] Chr6:39934306 [GRCh38]
Chr6:39902045 [GRCh37]
Chr6:6p21.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7190 AgrOrtholog
COSMIC MOCS1 COSMIC
Ensembl Genes ENSG00000124615 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000344794 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000362277 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000362284 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000362291 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000418315 UniProtKB/TrEMBL
Ensembl Transcript ENST00000340692 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000373181 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000373188 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000373195 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000487924 UniProtKB/TrEMBL
  ENST00000645522 ENTREZGENE
Gene3D-CATH 3.20.20.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.70.640 UniProtKB/Swiss-Prot
GTEx ENSG00000124615 GTEx
HGNC ID HGNC:7190 ENTREZGENE
Human Proteome Map MOCS1 Human Proteome Map
InterPro Aldolase_TIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Elp3/MiaB/NifB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mo_CF_biosynth-C UniProtKB/Swiss-Prot
  MoaA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MoaA_NifB_PqqE_Fe-S-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MoaC_sf UniProtKB/Swiss-Prot
  Mob_synth_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mopterin_CF_biosynth-C_dom UniProtKB/Swiss-Prot
  rSAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4337 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4337 ENTREZGENE
OMIM 252150 OMIM
  603707 OMIM
Pfam MoaC UniProtKB/Swiss-Prot
  Mob_synth_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Radical_SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30900 PharmGKB
PROSITE MOAA_NIFB_PQQE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RADICAL_SAM UniProtKB/Swiss-Prot
SMART Elp3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55040 UniProtKB/Swiss-Prot
TIGRFAMs moaA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  moaC UniProtKB/Swiss-Prot
UniGene Hs.357128 ENTREZGENE
  Hs.718492 ENTREZGENE
UniProt A0A024RD17 ENTREZGENE, UniProtKB/TrEMBL
  F8WCK1_HUMAN UniProtKB/TrEMBL
  MOCS1_HUMAN UniProtKB/Swiss-Prot
  Q5TCE4_HUMAN UniProtKB/TrEMBL
  Q5TCE5_HUMAN UniProtKB/TrEMBL
  Q9NP26_HUMAN UniProtKB/TrEMBL
  Q9NP27_HUMAN UniProtKB/TrEMBL
  Q9NZB8 ENTREZGENE
UniProt Secondary B3KPT7 UniProtKB/Swiss-Prot
  B4DTP1 UniProtKB/Swiss-Prot
  O14940 UniProtKB/Swiss-Prot
  O14941 UniProtKB/Swiss-Prot
  O75710 UniProtKB/Swiss-Prot
  Q5J7W0 UniProtKB/Swiss-Prot
  Q5TCE1 UniProtKB/Swiss-Prot
  Q5TCE2 UniProtKB/Swiss-Prot
  Q5TCE6 UniProtKB/Swiss-Prot
  Q5TCE9 UniProtKB/Swiss-Prot
  Q5TCF0 UniProtKB/Swiss-Prot
  Q5TCF1 UniProtKB/Swiss-Prot
  Q8N418 UniProtKB/Swiss-Prot
  Q9NZB7 UniProtKB/Swiss-Prot
  Q9UEM1 UniProtKB/Swiss-Prot