MOCS2 (molybdenum cofactor synthesis 2) - Rat Genome Database

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Gene: MOCS2 (molybdenum cofactor synthesis 2) Homo sapiens
Analyze
Symbol: MOCS2
Name: molybdenum cofactor synthesis 2
RGD ID: 1347583
HGNC Page HGNC:7193
Description: Contributes to molybdopterin synthase activity. Involved in Mo-molybdopterin cofactor biosynthetic process. Located in cytosol and nuclear speck. Part of molybdopterin synthase complex. Implicated in molybdenum cofactor deficiency type B.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MCBPE; MOCO1; MOCO1-A; MOCO1-B; MOCODB; MOCS2A; MOCS2B; molybdenum cofactor biosynthesis protein E; molybdenum cofactor synthesis protein 2 large subunit; molybdenum cofactor synthesis protein 2 small subunit; molybdenum cofactor synthesis protein 2A; molybdenum cofactor synthesis protein 2B; molybdopterin synthase catalytic subunit; molybdopterin synthase small and large subunit; molybdopterin synthase sulfur carrier subunit; molybdopterin-synthase large subunit; molybdopterin-synthase small subunit; MPT synthase large subunit; MPTS; sulfur carrier protein MOCS2A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38553,095,679 - 53,109,757 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl553,095,679 - 53,110,063 (-)EnsemblGRCh38hg38GRCh38
GRCh37552,391,509 - 52,405,587 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36552,429,649 - 52,441,355 (-)NCBINCBI36Build 36hg18NCBI36
Build 34552,429,653 - 52,441,355NCBI
Celera549,347,470 - 49,359,176 (-)NCBICelera
Cytogenetic Map5q11.2NCBI
HuRef549,363,558 - 49,377,653 (-)NCBIHuRef
CHM1_1552,394,058 - 52,408,152 (-)NCBICHM1_1
T2T-CHM13v2.0553,923,465 - 53,937,543 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component
cytoplasm  (IEA)
cytosol  (IBA,IDA,IEA,TAS)
molybdopterin synthase complex  (IEA,IPI,NAS)
nuclear speck  (IDA)
nucleoplasm  (IDA)

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Cell biology of molybdenum. Mendel RR and Bittner F, Biochim Biophys Acta. 2006 Jul;1763(7):621-35. Epub 2006 May 12.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH. Reiss J and Johnson JL, Hum Mutat 2003 Jun;21(6):569-76.
6. Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. Reiss J, etal., Am J Hum Genet 1999 Mar;64(3):706-11.
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1427786   PMID:9731530   PMID:9812897   PMID:9889283   PMID:10053003   PMID:10917590   PMID:11746050   PMID:12477932   PMID:12732628   PMID:14702039   PMID:15073332   PMID:15489334  
PMID:16021469   PMID:16169070   PMID:16344560   PMID:16737835   PMID:16964243   PMID:17158010   PMID:18029348   PMID:18491921   PMID:18650437   PMID:21873635   PMID:23376485   PMID:24927181  
PMID:25640309   PMID:26638075   PMID:28514442   PMID:28515276   PMID:31091453   PMID:33961781   PMID:34870926   PMID:35271311   PMID:35744859   PMID:35831314   PMID:36215168   PMID:36470425  
PMID:38943005  


Genomics

Comparative Map Data
MOCS2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38553,095,679 - 53,109,757 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl553,095,679 - 53,110,063 (-)EnsemblGRCh38hg38GRCh38
GRCh37552,391,509 - 52,405,587 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36552,429,649 - 52,441,355 (-)NCBINCBI36Build 36hg18NCBI36
Build 34552,429,653 - 52,441,355NCBI
Celera549,347,470 - 49,359,176 (-)NCBICelera
Cytogenetic Map5q11.2NCBI
HuRef549,363,558 - 49,377,653 (-)NCBIHuRef
CHM1_1552,394,058 - 52,408,152 (-)NCBICHM1_1
T2T-CHM13v2.0553,923,465 - 53,937,543 (-)NCBIT2T-CHM13v2.0
Mocs2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3913114,954,707 - 114,965,960 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl13114,954,772 - 114,968,811 (+)EnsemblGRCm39 Ensembl
GRCm3813114,818,160 - 114,829,420 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl13114,818,236 - 114,832,275 (+)EnsemblGRCm38mm10GRCm38
MGSCv3713115,608,445 - 115,619,628 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3613115,939,164 - 115,949,607 (+)NCBIMGSCv36mm8
Celera13119,161,937 - 119,173,119 (+)NCBICelera
Cytogenetic Map13D2.2NCBI
cM Map1364.61NCBI
Mocs2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8248,237,655 - 48,249,394 (+)NCBIGRCr8
mRatBN7.2246,504,588 - 46,516,327 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl246,504,588 - 46,516,324 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx253,614,202 - 53,625,948 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0251,672,578 - 51,684,324 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0246,540,417 - 46,552,139 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0246,980,964 - 46,992,886 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl246,980,976 - 46,992,883 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0271,520,174 - 71,532,084 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4246,948,321 - 46,960,060 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1246,876,587 - 46,888,290 (+)NCBI
Celera242,260,839 - 42,272,490 (+)NCBICelera
Cytogenetic Map2q14NCBI
Mocs2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544614,295,737 - 14,307,838 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544614,295,737 - 14,305,735 (+)NCBIChiLan1.0ChiLan1.0
MOCS2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2460,831,376 - 60,843,005 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1558,984,997 - 58,996,220 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0560,920,268 - 60,931,990 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1562,539,208 - 62,550,926 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl562,539,214 - 62,550,921 (+)Ensemblpanpan1.1panPan2
MOCS2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1462,153,828 - 62,164,154 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl462,153,296 - 62,185,492 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha461,928,792 - 61,939,117 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0462,651,866 - 62,662,174 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl462,652,443 - 62,665,845 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1462,427,116 - 62,437,429 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0462,551,658 - 62,561,990 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0463,078,354 - 63,088,687 (+)NCBIUU_Cfam_GSD_1.0
Mocs2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213205,369,033 - 205,380,226 (+)NCBIHiC_Itri_2
SpeTri2.0NW_00493648014,302,824 - 14,313,265 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MOCS2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1632,436,205 - 32,462,521 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11632,427,783 - 32,462,362 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21634,270,548 - 34,290,713 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MOCS2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1449,387,923 - 49,399,902 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl449,386,487 - 49,399,928 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660821,727,742 - 1,739,745 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mocs2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247596,261,933 - 6,271,509 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247596,261,970 - 6,272,246 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MOCS2
313 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004531.5(MOCS2):c.502G>A (p.Glu168Lys) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000006483] Chr5:53098667 [GRCh38]
Chr5:52394497 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_004531.5(MOCS2):c.3G>A (p.Met1Ile) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000006486] Chr5:53107172 [GRCh38]
Chr5:52403002 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_176806.4(MOCS2):c.16C>T (p.Gln6Ter) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000721967]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000006487]|not provided [RCV001851698] Chr5:53109714 [GRCh38]
Chr5:52405544 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_176806.4(MOCS2):c.19G>T (p.Val7Phe) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000006488] Chr5:53108643 [GRCh38]
Chr5:52404473 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_004531.5(MOCS2):c.567A>C (p.Ter189Tyr) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000006489]|not provided [RCV001323986] Chr5:53098602 [GRCh38]
Chr5:52394432 [GRCh37]
Chr5:5q11.2		 pathogenic|likely pathogenic|uncertain significance
NM_004531.5(MOCS2):c.539_540del (p.Lys180fs) deletion Abnormality of metabolism/homeostasis [RCV001813958]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000006482]|not provided [RCV001377873] Chr5:53098629..53098630 [GRCh38]
Chr5:52394459..52394460 [GRCh37]
Chr5:5q11.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_004531.5(MOCS2):c.346_349del (p.Val116fs) deletion Combined molybdoflavoprotein enzyme deficiency [RCV000288995]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000006484]|not provided [RCV003546452] Chr5:53101387..53101390 [GRCh38]
Chr5:52397217..52397220 [GRCh37]
Chr5:5q11.2		 pathogenic|uncertain significance
NM_004531.5(MOCS2):c.65dup (p.Leu23fs) duplication Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000006485]|not provided [RCV001388974] Chr5:53107109..53107110 [GRCh38]
Chr5:52402939..52402940 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_176806.4(MOCS2):c.-8_15del (p.Met1fs) deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000006490] Chr5:53109715..53109737 [GRCh38]
Chr5:52405545..52405567 [GRCh37]
Chr5:5q11.2		 pathogenic|likely pathogenic
GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1 copy number loss See cases [RCV000050797] Chr5:50288355..63149770 [GRCh38]
Chr5:49584189..62445597 [GRCh37]
Chr5:49619946..62481353 [NCBI36]
Chr5:5q11.1-12.1		 pathogenic
GRCh38/hg38 5q11.1-11.2(chr5:50288355-56717370)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051838]|See cases [RCV000051838] Chr5:50288355..56717370 [GRCh38]
Chr5:49584189..56013197 [GRCh37]
Chr5:49619946..56048954 [NCBI36]
Chr5:5q11.1-11.2		 pathogenic
GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1 copy number loss See cases [RCV000053451] Chr5:50462100..55862985 [GRCh38]
Chr5:49757934..55158813 [GRCh37]
Chr5:49793691..55194570 [NCBI36]
Chr5:5q11.1-11.2		 pathogenic
NM_004531.5(MOCS2):c.45G>A (p.Thr15=) single nucleotide variant Inborn genetic diseases [RCV002547090]|not provided [RCV001348053] Chr5:53107130 [GRCh38]
Chr5:52402960 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.179G>A (p.Arg60His) single nucleotide variant not provided [RCV001303693] Chr5:53107183 [GRCh38]
Chr5:52403013 [GRCh37]
Chr5:5q11.2		 uncertain significance
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1		 pathogenic
GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3 copy number gain See cases [RCV000138021] Chr5:45566861..56506493 [GRCh38]
Chr5:45566963..55802320 [GRCh37]
Chr5:45602720..55838077 [NCBI36]
Chr5:5p12-q11.2		 uncertain significance
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
NM_004531.5(MOCS2):c.367C>T (p.His123Tyr) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001155307]|not provided [RCV000584906]|not specified [RCV000203023] Chr5:53101369 [GRCh38]
Chr5:52397199 [GRCh37]
Chr5:5q11.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_176806.4(MOCS2):c.114G>A (p.Trp38Ter) single nucleotide variant not provided [RCV000519698] Chr5:53108548 [GRCh38]
Chr5:52404378 [GRCh37]
Chr5:5q11.2		 likely pathogenic
NM_004531.5(MOCS2):c.261C>T (p.Val87=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000397962]|not provided [RCV002061288] Chr5:53101475 [GRCh38]
Chr5:52397305 [GRCh37]
Chr5:5q11.2		 likely benign|uncertain significance
NM_176806.4(MOCS2):c.178C>T (p.Arg60Cys) single nucleotide variant Inborn genetic diseases [RCV004022000]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000300889]|not provided [RCV001344244] Chr5:53107184 [GRCh38]
Chr5:52403014 [GRCh37]
Chr5:5q11.2		 likely benign|uncertain significance
NM_176806.4(MOCS2):c.117G>A (p.Lys39=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000354658]|not provided [RCV001427397] Chr5:53108545 [GRCh38]
Chr5:52404375 [GRCh37]
Chr5:5q11.2		 likely benign|uncertain significance
NM_004531.5(MOCS2):c.99-8_99-5del deletion Combined molybdoflavoprotein enzyme deficiency [RCV000400880]|not provided [RCV001434954] Chr5:53102229..53102232 [GRCh38]
Chr5:52398059..52398062 [GRCh37]
Chr5:5q11.2		 likely benign|uncertain significance
NM_176806.3(MOCS2):c.-37T>C single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000327642] Chr5:53109766 [GRCh38]
Chr5:52405596 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.*143G>A single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000328524] Chr5:53098459 [GRCh38]
Chr5:52394289 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.296C>T (p.Ala99Val) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000350921]|not provided [RCV000998384] Chr5:53101440 [GRCh38]
Chr5:52397270 [GRCh37]
Chr5:5q11.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_004531.5(MOCS2):c.*372G>A single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000320281] Chr5:53098230 [GRCh38]
Chr5:52394060 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.14G>A (p.Cys5Tyr) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000305729]|not provided [RCV000998389] Chr5:53109716 [GRCh38]
Chr5:52405546 [GRCh37]
Chr5:5q11.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_004531.5(MOCS2):c.255A>G (p.Lys85=) single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000292675]|not provided [RCV001517942] Chr5:53101481 [GRCh38]
Chr5:52397311 [GRCh37]
Chr5:5q11.2		 benign|likely benign
NM_004531.5(MOCS2):c.148A>G (p.Thr50Ala) single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000349961]|not provided [RCV001517943] Chr5:53102175 [GRCh38]
Chr5:52398005 [GRCh37]
Chr5:5q11.2		 benign|likely benign
NM_004531.5(MOCS2):c.-664C>A single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000265542] Chr5:53109745 [GRCh38]
Chr5:52405575 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.-622G>A single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000391666]|not provided [RCV001516585] Chr5:53109703 [GRCh38]
Chr5:52405533 [GRCh37]
Chr5:5q11.2		 benign|uncertain significance
NM_002203.4(ITGA2):c.*3164G>A single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000305044]|Platelet-type bleeding disorder 9 [RCV000369301]|not provided [RCV004707144] Chr5:53093763 [GRCh38]
Chr5:52389593 [GRCh37]
Chr5:5q11.2		 benign|likely benign
NM_002203.4(ITGA2):c.*3918G>C single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000309804]|Platelet-type bleeding disorder 9 [RCV000345341]|not provided [RCV004707145] Chr5:53094517 [GRCh38]
Chr5:52390347 [GRCh37]
Chr5:5q11.2		 benign|likely benign
NM_002203.4(ITGA2):c.*3385_*3386insGAAA insertion Combined molybdoflavoprotein enzyme deficiency [RCV000359678]|Platelet-type bleeding disorder 9 [RCV000316630] Chr5:53093981..53093982 [GRCh38]
Chr5:52389811..52389812 [GRCh37]
Chr5:5q11.2		 benign
NM_002203.4(ITGA2):c.*4098C>G single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000325010]|Platelet-type bleeding disorder 9 [RCV000317047]|not provided [RCV004705397] Chr5:53094697 [GRCh38]
Chr5:52390527 [GRCh37]
Chr5:5q11.2		 benign|likely benign
NM_002203.4(ITGA2):c.*1252G>A single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000326815]|Platelet-type bleeding disorder 9 [RCV000357473]|not provided [RCV004705395] Chr5:53091851 [GRCh38]
Chr5:52387681 [GRCh37]
Chr5:5q11.2		 benign|likely benign
NM_002203.4(ITGA2):c.*2574C>G single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000338791]|Platelet-type bleeding disorder 9 [RCV000381194]|not provided [RCV004705396] Chr5:53093173 [GRCh38]
Chr5:52389003 [GRCh37]
Chr5:5q11.2		 benign|likely benign
NM_002203.4(ITGA2):c.*2999A>G single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000353775]|Platelet-type bleeding disorder 9 [RCV000340853]|not provided [RCV004716367] Chr5:53093598 [GRCh38]
Chr5:52389428 [GRCh37]
Chr5:5q11.2		 benign
NM_002203.4(ITGA2):c.*760_*761insTTAT insertion Combined molybdoflavoprotein enzyme deficiency [RCV000384979]|Platelet-type bleeding disorder 9 [RCV000344956] Chr5:53091357..53091358 [GRCh38]
Chr5:52387187..52387188 [GRCh37]
Chr5:5q11.2		 benign|likely benign
NM_002203.4(ITGA2):c.*4045AGT[1] microsatellite Combined molybdoflavoprotein enzyme deficiency [RCV000269902]|Platelet-type bleeding disorder 9 [RCV000259422] Chr5:53094643..53094645 [GRCh38]
Chr5:52390473..52390475 [GRCh37]
Chr5:5q11.2		 benign|likely benign
NM_002203.4(ITGA2):c.*3986A>C single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000364446]|Platelet-type bleeding disorder 9 [RCV000399204]|not provided [RCV004716369] Chr5:53094585 [GRCh38]
Chr5:52390415 [GRCh37]
Chr5:5q11.2		 benign
NM_002203.4(ITGA2):c.*3763_*3764del deletion Combined molybdoflavoprotein enzyme deficiency [RCV000265034]|Platelet-type bleeding disorder 9 [RCV000346928] Chr5:53094361..53094362 [GRCh38]
Chr5:52390191..52390192 [GRCh37]
Chr5:5q11.2		 benign|likely benign
NM_002203.4(ITGA2):c.*2505CAAA[3] microsatellite Combined molybdoflavoprotein enzyme deficiency [RCV000351146]|Platelet-type bleeding disorder 9 [RCV000265110] Chr5:53093104..53093107 [GRCh38]
Chr5:52388934..52388937 [GRCh37]
Chr5:5q11.2		 benign|likely benign
NM_002203.4(ITGA2):c.*1764del deletion Combined molybdoflavoprotein enzyme deficiency [RCV000381440]|Platelet-type bleeding disorder 9 [RCV000378294] Chr5:53092357 [GRCh38]
Chr5:52388187 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.*44A>C single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000381148]|Platelet-type bleeding disorder 9 [RCV000386161]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001154473] Chr5:53098558 [GRCh38]
Chr5:52394388 [GRCh37]
Chr5:5q11.2		 likely benign|uncertain significance
NM_002203.4(ITGA2):c.*475_*477del deletion Combined molybdoflavoprotein enzyme deficiency [RCV000266621]|Platelet-type bleeding disorder 9 [RCV000379096] Chr5:53091072..53091074 [GRCh38]
Chr5:52386902..52386904 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.*413del deletion Combined molybdoflavoprotein enzyme deficiency [RCV000267699]|Platelet-type bleeding disorder 9 [RCV000388960]|not provided [RCV001718760] Chr5:53098189 [GRCh38]
Chr5:52394019 [GRCh37]
Chr5:5q11.2		 benign|likely benign
NM_002203.4(ITGA2):c.*2939C>T single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000405467]|Platelet-type bleeding disorder 9 [RCV000399600]|not provided [RCV004707143] Chr5:53093538 [GRCh38]
Chr5:52389368 [GRCh37]
Chr5:5q11.2		 benign|likely benign
NM_002203.4(ITGA2):c.*2570C>A single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000391037]|Platelet-type bleeding disorder 9 [RCV000271435] Chr5:53093169 [GRCh38]
Chr5:52388999 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002203.4(ITGA2):c.*3026A>G single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000404027]|Platelet-type bleeding disorder 9 [RCV000407771]|not provided [RCV004716368] Chr5:53093625 [GRCh38]
Chr5:52389455 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.*321A>G single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000377223]|Platelet-type bleeding disorder 9 [RCV000276645]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001154470] Chr5:53098281 [GRCh38]
Chr5:52394111 [GRCh37]
Chr5:5q11.2		 benign|likely benign|uncertain significance
NM_176806.4(MOCS2):c.7C>T (p.Pro3Ser) single nucleotide variant Inborn genetic diseases [RCV004022001]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000358223]|not provided [RCV002523526] Chr5:53109723 [GRCh38]
Chr5:52405553 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.*171G>C single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000289879]|Platelet-type bleeding disorder 9 [RCV000331679]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001154471] Chr5:53098431 [GRCh38]
Chr5:52394261 [GRCh37]
Chr5:5q11.2		 likely benign|uncertain significance
NM_002203.4(ITGA2):c.*721A>C single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000321716]|Platelet-type bleeding disorder 9 [RCV000290003]|not provided [RCV004717555] Chr5:53091320 [GRCh38]
Chr5:52387150 [GRCh37]
Chr5:5q11.2		 benign
NM_002203.4(ITGA2):c.*894C>T single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000290658]|Platelet-type bleeding disorder 9 [RCV000369221]|not provided [RCV004716365] Chr5:53091493 [GRCh38]
Chr5:52387323 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.*532G>A single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000359962] Chr5:53098070 [GRCh38]
Chr5:52393900 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002203.4(ITGA2):c.*2570C>T single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000292838]|Platelet-type bleeding disorder 9 [RCV000326543]|not provided [RCV004707142] Chr5:53093169 [GRCh38]
Chr5:52388999 [GRCh37]
Chr5:5q11.2		 benign|likely benign
NM_002203.4(ITGA2):c.*2041del deletion Combined molybdoflavoprotein enzyme deficiency [RCV000296281]|Platelet-type bleeding disorder 9 [RCV000344263] Chr5:53092625 [GRCh38]
Chr5:52388455 [GRCh37]
Chr5:5q11.2		 benign
NM_002203.4(ITGA2):c.*2940G>A single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV000298934]|Platelet-type bleeding disorder 9 [RCV000304662]|not provided [RCV004716366] Chr5:53093539 [GRCh38]
Chr5:52389369 [GRCh37]
Chr5:5q11.2		 benign
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_004531.5(MOCS2):c.226G>A (p.Gly76Arg) single nucleotide variant MOCS2-related disorder [RCV004758020]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001731709]|not provided [RCV000479116] Chr5:53102097 [GRCh38]
Chr5:52397927 [GRCh37]
Chr5:5q11.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5q11.2(chr5:50824656-53452371)x1 copy number loss See cases [RCV000511681] Chr5:50824656..53452371 [GRCh37]
Chr5:5q11.2		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_004531.5(MOCS2):c.108G>A (p.Met36Ile) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000764611]|not provided [RCV000585182] Chr5:53102215 [GRCh38]
Chr5:52398045 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.2T>G (p.Met1Arg) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000714697] Chr5:53107173 [GRCh38]
Chr5:52403003 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_176806.4(MOCS2):c.134A>C (p.His45Pro) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV000714801] Chr5:53108528 [GRCh38]
Chr5:52404358 [GRCh37]
Chr5:5q11.2		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_004531.5(MOCS2):c.-48+40G>A single nucleotide variant not provided [RCV001679836] Chr5:53108482 [GRCh38]
Chr5:52404312 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.227-106A>G single nucleotide variant not provided [RCV001680111] Chr5:53101615 [GRCh38]
Chr5:52397445 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.57A>T (p.Leu19Phe) single nucleotide variant not provided [RCV000998386] Chr5:53107118 [GRCh38]
Chr5:52402948 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.74A>G (p.Glu25Gly) single nucleotide variant Inborn genetic diseases [RCV004639465]|not provided [RCV001091909] Chr5:53107101 [GRCh38]
Chr5:52402931 [GRCh37]
Chr5:5q11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 5q11.2(chr5:52053923-52680028)x3 copy number gain not provided [RCV000847276] Chr5:52053923..52680028 [GRCh37]
Chr5:5q11.2		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
NM_004531.5(MOCS2):c.*518C>T single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001151445] Chr5:53098084 [GRCh38]
Chr5:52393914 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.415G>A (p.Val139Met) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001154475]|not provided [RCV000998382] Chr5:53100497 [GRCh38]
Chr5:52396327 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.318T>C (p.Ile106=) single nucleotide variant not provided [RCV000998383] Chr5:53101418 [GRCh38]
Chr5:52397248 [GRCh37]
Chr5:5q11.2		 benign|likely benign
NM_176806.4(MOCS2):c.79T>C (p.Ser27Pro) single nucleotide variant not provided [RCV000998388] Chr5:53108583 [GRCh38]
Chr5:52404413 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.146C>G (p.Ala49Gly) single nucleotide variant not provided [RCV000998387] Chr5:53107216 [GRCh38]
Chr5:52403046 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.33T>G (p.Tyr11Ter) single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV004690120]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001619770] Chr5:53108629 [GRCh38]
Chr5:52404459 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_004531.5(MOCS2):c.*876T>C single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156873] Chr5:53097726 [GRCh38]
Chr5:52393556 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.*122G>A single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001154472] Chr5:53098480 [GRCh38]
Chr5:52394310 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.*1544C>A single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001155214]|not provided [RCV004717765] Chr5:53097058 [GRCh38]
Chr5:52392888 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.*673A>T single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001151442] Chr5:53097929 [GRCh38]
Chr5:52393759 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.*566C>T single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001151444]|not provided [RCV004716683] Chr5:53098036 [GRCh38]
Chr5:52393866 [GRCh37]
Chr5:5q11.2		 benign
NC_000005.9:g.(?_52285299)_(56189507_?)del deletion not provided [RCV003107599] Chr5:52285299..56189507 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_004531.5(MOCS2):c.502-188del deletion not provided [RCV001654344] Chr5:53098855 [GRCh38]
Chr5:52394685 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.-48+74_-48+75insAGT insertion not provided [RCV001670350] Chr5:53108447..53108448 [GRCh38]
Chr5:52404277..52404278 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.229A>G (p.Thr77Ala) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001155308]|not provided [RCV001513184] Chr5:53101507 [GRCh38]
Chr5:52397337 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.244T>G (p.Phe82Val) single nucleotide variant not provided [RCV000998385] Chr5:53101492 [GRCh38]
Chr5:52397322 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.-521A>T single nucleotide variant not provided [RCV001716545] Chr5:53109602 [GRCh38]
Chr5:52405432 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.227-201A>G single nucleotide variant not provided [RCV001660841] Chr5:53101710 [GRCh38]
Chr5:52397540 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.-48+65A>C single nucleotide variant not provided [RCV001660842] Chr5:53108457 [GRCh38]
Chr5:52404287 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.24del (p.Ser9fs) deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001619771] Chr5:53107151 [GRCh38]
Chr5:52402981 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_004531.5(MOCS2):c.*1545G>A single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001155213] Chr5:53097057 [GRCh38]
Chr5:52392887 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.*1167G>A single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156871] Chr5:53097435 [GRCh38]
Chr5:52393265 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.*735G>A single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156875]|not provided [RCV004716707] Chr5:53097867 [GRCh38]
Chr5:52393697 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.104A>G (p.Asp35Gly) single nucleotide variant MOCS2-related disorder [RCV003928753]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156979]|not provided [RCV001511918] Chr5:53102219 [GRCh38]
Chr5:52398049 [GRCh37]
Chr5:5q11.2		 benign|likely benign
NM_004531.5(MOCS2):c.*2651G>T single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156771] Chr5:53095951 [GRCh38]
Chr5:52391781 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.*2609G>C single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156772] Chr5:53095993 [GRCh38]
Chr5:52391823 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.*2900A>G single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156767]|not provided [RCV004707559] Chr5:53095702 [GRCh38]
Chr5:52391532 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.*1872C>T single nucleotide variant Platelet-type bleeding disorder 9 [RCV001154366]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001154367]|not provided [RCV004716696] Chr5:53096730 [GRCh38]
Chr5:52392560 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.*1918A>G single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001154363] Chr5:53096684 [GRCh38]
Chr5:52392514 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.*1913G>A single nucleotide variant Platelet-type bleeding disorder 9 [RCV001154364]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001154365]|not provided [RCV003425955] Chr5:53096689 [GRCh38]
Chr5:52392519 [GRCh37]
Chr5:5q11.2		 benign|likely benign
NM_004531.5(MOCS2):c.*1673T>C single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001155211] Chr5:53096929 [GRCh38]
Chr5:52392759 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.377+1G>A single nucleotide variant not provided [RCV001583111] Chr5:53101358 [GRCh38]
Chr5:52397188 [GRCh37]
Chr5:5q11.2		 pathogenic|likely pathogenic
NM_176806.4(MOCS2):c.30_34del (p.Leu10fs) microsatellite Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001196957] Chr5:53108628..53108632 [GRCh38]
Chr5:52404458..52404462 [GRCh37]
Chr5:5q11.2		 likely pathogenic
NM_004531.5(MOCS2):c.*1658G>A single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001155212] Chr5:53096944 [GRCh38]
Chr5:52392774 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.*1483C>T single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001155215] Chr5:53097119 [GRCh38]
Chr5:52392949 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.*2582A>C single nucleotide variant Platelet-type bleeding disorder 9 [RCV001156773]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001151318] Chr5:53096020 [GRCh38]
Chr5:52391850 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.*2357T>C single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001151321] Chr5:53096245 [GRCh38]
Chr5:52392075 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.*722T>C single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001151441] Chr5:53097880 [GRCh38]
Chr5:52393710 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.*2877G>T single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156768] Chr5:53095725 [GRCh38]
Chr5:52391555 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.*2672G>C single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156770] Chr5:53095930 [GRCh38]
Chr5:52391760 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.*1284C>G single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156870] Chr5:53097318 [GRCh38]
Chr5:52393148 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.*1011G>A single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156872]|not provided [RCV004716706] Chr5:53097591 [GRCh38]
Chr5:52393421 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.*837T>C single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156874]|not provided [RCV004694997] Chr5:53097765 [GRCh38]
Chr5:52393595 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.18+1G>T single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001090122] Chr5:53109711 [GRCh38]
Chr5:52405541 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.*32C>G single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001154474] Chr5:53098570 [GRCh38]
Chr5:52394400 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002203.4(ITGA2):c.*3813G>A single nucleotide variant Platelet-type bleeding disorder 9 [RCV001154273]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001154274] Chr5:53094412 [GRCh38]
Chr5:52390242 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.*344C>T single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001154469] Chr5:53098258 [GRCh38]
Chr5:52394088 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.3G>A (p.Met1Ile) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001004857]|not provided [RCV002549261] Chr5:53109727 [GRCh38]
Chr5:52405557 [GRCh37]
Chr5:5q11.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004531.5(MOCS2):c.*2415C>T single nucleotide variant Platelet-type bleeding disorder 9 [RCV001151319]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001151320]|not provided [RCV004716681] Chr5:53096187 [GRCh38]
Chr5:52392017 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.*2158C>T single nucleotide variant Platelet-type bleeding disorder 9 [RCV001151322]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001151323]|not provided [RCV004716682] Chr5:53096444 [GRCh38]
Chr5:52392274 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.*2045G>A single nucleotide variant Platelet-type bleeding disorder 9 [RCV001151324]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001151325] Chr5:53096557 [GRCh38]
Chr5:52392387 [GRCh37]
Chr5:5q11.2		 benign|uncertain significance
NM_004531.5(MOCS2):c.*651G>A single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001151443] Chr5:53097951 [GRCh38]
Chr5:52393781 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.*2675A>C single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156769] Chr5:53095927 [GRCh38]
Chr5:52391757 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.*1424G>A single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001156869] Chr5:53097178 [GRCh38]
Chr5:52393008 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.*2032G>A single nucleotide variant Platelet-type bleeding disorder 9 [RCV001154361]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001154362]|not provided [RCV004716695] Chr5:53096570 [GRCh38]
Chr5:52392400 [GRCh37]
Chr5:5q11.2		 benign
GRCh37/hg19 5q11.1-11.2(chr5:49430268-53182665)x1 copy number loss not provided [RCV001258850] Chr5:49430268..53182665 [GRCh37]
Chr5:5q11.1-11.2		 pathogenic
NM_004531.5(MOCS2):c.-625G>C single nucleotide variant not provided [RCV001311651] Chr5:53109706 [GRCh38]
Chr5:52405536 [GRCh37]
Chr5:5q11.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_176806.4(MOCS2):c.61G>T (p.Val21Phe) single nucleotide variant not provided [RCV001297747] Chr5:53108601 [GRCh38]
Chr5:52404431 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.197C>T (p.Pro66Leu) single nucleotide variant not provided [RCV001305533] Chr5:53102126 [GRCh38]
Chr5:52397956 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.154G>A (p.Glu52Lys) single nucleotide variant not provided [RCV001337742] Chr5:53102169 [GRCh38]
Chr5:52397999 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.499A>C (p.Lys167Gln) single nucleotide variant not provided [RCV001348462] Chr5:53100413 [GRCh38]
Chr5:52396243 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.56C>G (p.Thr19Arg) single nucleotide variant Inborn genetic diseases [RCV004037045]|not provided [RCV001368507] Chr5:53108606 [GRCh38]
Chr5:52404436 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.163T>G (p.Ser55Ala) single nucleotide variant not provided [RCV001315534] Chr5:53102160 [GRCh38]
Chr5:52397990 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.464T>C (p.Ile155Thr) single nucleotide variant not provided [RCV001301551] Chr5:53100448 [GRCh38]
Chr5:52396278 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.509A>G (p.Tyr170Cys) single nucleotide variant not provided [RCV001365010] Chr5:53098660 [GRCh38]
Chr5:52394490 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.550T>G (p.Trp184Gly) single nucleotide variant not provided [RCV001372028] Chr5:53098619 [GRCh38]
Chr5:52394449 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.172G>A (p.Ala58Thr) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV001337096] Chr5:53107190 [GRCh38]
Chr5:52403020 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.64C>G (p.Pro22Ala) single nucleotide variant not provided [RCV001359989] Chr5:53107111 [GRCh38]
Chr5:52402941 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.100G>T (p.Ala34Ser) single nucleotide variant not provided [RCV001367219] Chr5:53108562 [GRCh38]
Chr5:52404392 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.209C>T (p.Ala70Val) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV002499744]|not provided [RCV001365694] Chr5:53102114 [GRCh38]
Chr5:52397944 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.560A>G (p.Asn187Ser) single nucleotide variant MOCS2-related disorder [RCV003921154]|not provided [RCV001520159] Chr5:53098609 [GRCh38]
Chr5:52394439 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.540A>G (p.Lys180=) single nucleotide variant not provided [RCV001484501] Chr5:53098629 [GRCh38]
Chr5:52394459 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.502-7T>G single nucleotide variant not provided [RCV001465612] Chr5:53098674 [GRCh38]
Chr5:52394504 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.-169-4T>A single nucleotide variant not provided [RCV001455413] Chr5:53108647 [GRCh38]
Chr5:52404477 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.534A>G (p.Gly178=) single nucleotide variant not provided [RCV001449045] Chr5:53098635 [GRCh38]
Chr5:52394465 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.98+7G>A single nucleotide variant not provided [RCV001408648] Chr5:53107070 [GRCh38]
Chr5:52402900 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.378-76del deletion not provided [RCV001709845] Chr5:53100610 [GRCh38]
Chr5:52396440 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.462C>T (p.Ala154=) single nucleotide variant not provided [RCV001471093] Chr5:53100450 [GRCh38]
Chr5:52396280 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.227-20_227-17dup duplication not provided [RCV001518358] Chr5:53101525..53101526 [GRCh38]
Chr5:52397355..52397356 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.510C>T (p.Tyr170=) single nucleotide variant not provided [RCV001467115] Chr5:53098659 [GRCh38]
Chr5:52394489 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.531A>G (p.Lys177=) single nucleotide variant not provided [RCV001425196] Chr5:53098638 [GRCh38]
Chr5:52394468 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.276T>C (p.Tyr92=) single nucleotide variant not provided [RCV001426529] Chr5:53101460 [GRCh38]
Chr5:52397290 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.102A>G (p.Lys34=) single nucleotide variant MOCS2-related disorder [RCV003953780]|not provided [RCV001424729] Chr5:53102221 [GRCh38]
Chr5:52398051 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.201C>G (p.Leu67=) single nucleotide variant not provided [RCV001485668] Chr5:53102122 [GRCh38]
Chr5:52397952 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.27G>A (p.Ser9=) single nucleotide variant Inborn genetic diseases [RCV004641889]|not provided [RCV002045784] Chr5:53107148 [GRCh38]
Chr5:52402978 [GRCh37]
Chr5:5q11.2		 likely benign|uncertain significance
NM_176806.4(MOCS2):c.109C>G (p.Leu37Val) single nucleotide variant not provided [RCV001971740] Chr5:53108553 [GRCh38]
Chr5:52404383 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.44C>T (p.Thr15Met) single nucleotide variant not provided [RCV001915052] Chr5:53107131 [GRCh38]
Chr5:52402961 [GRCh37]
Chr5:5q11.2		 likely benign|uncertain significance
NM_004531.5(MOCS2):c.59C>T (p.Ser20Phe) single nucleotide variant not provided [RCV001863774] Chr5:53107116 [GRCh38]
Chr5:52402946 [GRCh37]
Chr5:5q11.2		 likely benign|uncertain significance
NM_004531.5(MOCS2):c.479C>T (p.Ala160Val) single nucleotide variant not provided [RCV002043003] Chr5:53100433 [GRCh38]
Chr5:52396263 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.17A>G (p.Gln6Arg) single nucleotide variant not provided [RCV001927266] Chr5:53109713 [GRCh38]
Chr5:52405543 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.163dup (p.Ser55fs) duplication not provided [RCV001949628] Chr5:53102159..53102160 [GRCh38]
Chr5:52397989..52397990 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_004531.5(MOCS2):c.284A>T (p.Tyr95Phe) single nucleotide variant not provided [RCV002008608] Chr5:53101452 [GRCh38]
Chr5:52397282 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.161A>G (p.Gln54Arg) single nucleotide variant not provided [RCV001929282] Chr5:53107201 [GRCh38]
Chr5:52403031 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.241A>T (p.Asn81Tyr) single nucleotide variant Inborn genetic diseases [RCV004641754]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV002503531]|not provided [RCV001915109] Chr5:53101495 [GRCh38]
Chr5:52397325 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.106C>T (p.Gln36Ter) single nucleotide variant not provided [RCV002007215] Chr5:53108556 [GRCh38]
Chr5:52404386 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_004531.5(MOCS2):c.319T>G (p.Cys107Gly) single nucleotide variant not provided [RCV001970780] Chr5:53101417 [GRCh38]
Chr5:52397247 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.6G>A (p.Ser2=) single nucleotide variant Inborn genetic diseases [RCV003167185]|not provided [RCV001947801] Chr5:53107169 [GRCh38]
Chr5:52402999 [GRCh37]
Chr5:5q11.2		 likely benign|uncertain significance
NM_176806.4(MOCS2):c.163A>G (p.Ile55Val) single nucleotide variant not provided [RCV001910904] Chr5:53107199 [GRCh38]
Chr5:52403029 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.65G>C (p.Arg22Pro) single nucleotide variant not provided [RCV001986545] Chr5:53108597 [GRCh38]
Chr5:52404427 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.65G>T (p.Arg22Leu) single nucleotide variant not provided [RCV002006649] Chr5:53108597 [GRCh38]
Chr5:52404427 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.523A>G (p.Thr175Ala) single nucleotide variant Inborn genetic diseases [RCV002562190]|not provided [RCV001965305] Chr5:53098646 [GRCh38]
Chr5:52394476 [GRCh37]
Chr5:5q11.2		 uncertain significance
NC_000005.9:g.(?_52285299)_(52405559_?)dup duplication not provided [RCV001985088] Chr5:52285299..52405559 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.61C>T (p.Pro21Ser) single nucleotide variant not provided [RCV001887705] Chr5:53107114 [GRCh38]
Chr5:52402944 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.377G>C (p.Gly126Ala) single nucleotide variant not provided [RCV001944684] Chr5:53101359 [GRCh38]
Chr5:52397189 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.539A>G (p.Lys180Arg) single nucleotide variant not provided [RCV001992951] Chr5:53098630 [GRCh38]
Chr5:52394460 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.511G>A (p.Glu171Lys) single nucleotide variant not provided [RCV001962620] Chr5:53098658 [GRCh38]
Chr5:52394488 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.140_141dup (p.Asn48Ter) microsatellite not provided [RCV001921720] Chr5:53102181..53102182 [GRCh38]
Chr5:52398011..52398012 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_004531.5(MOCS2):c.107T>C (p.Met36Thr) single nucleotide variant not provided [RCV002030706] Chr5:53102216 [GRCh38]
Chr5:52398046 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.501+4A>G single nucleotide variant not provided [RCV001936365] Chr5:53100407 [GRCh38]
Chr5:52396237 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.206G>A (p.Gly69Asp) single nucleotide variant not provided [RCV001916666] Chr5:53102117 [GRCh38]
Chr5:52397947 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.26C>G (p.Ser9Trp) single nucleotide variant not provided [RCV001953139] Chr5:53107149 [GRCh38]
Chr5:52402979 [GRCh37]
Chr5:5q11.2		 likely benign|uncertain significance
NM_004531.5(MOCS2):c.5C>T (p.Ser2Leu) single nucleotide variant not provided [RCV001935902] Chr5:53107170 [GRCh38]
Chr5:52403000 [GRCh37]
Chr5:5q11.2		 likely benign|uncertain significance
NM_176806.4(MOCS2):c.45T>A (p.Ser15Arg) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV003348747]|not provided [RCV002028663]|not specified [RCV004699639] Chr5:53108617 [GRCh38]
Chr5:52404447 [GRCh37]
Chr5:5q11.2		 pathogenic|likely pathogenic|uncertain significance
NM_004531.5(MOCS2):c.354C>T (p.His118=) single nucleotide variant not provided [RCV001867718] Chr5:53101382 [GRCh38]
Chr5:52397212 [GRCh37]
Chr5:5q11.2		 likely benign
NM_176806.4(MOCS2):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV001951201] Chr5:53109729 [GRCh38]
Chr5:52405559 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_004531.5(MOCS2):c.66A>G (p.Pro22=) single nucleotide variant not provided [RCV002030398] Chr5:53107109 [GRCh38]
Chr5:52402939 [GRCh37]
Chr5:5q11.2		 likely benign|uncertain significance
NM_176806.4(MOCS2):c.183A>G (p.Gln61=) single nucleotide variant not provided [RCV001923233] Chr5:53107179 [GRCh38]
Chr5:52403009 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.487C>T (p.Pro163Ser) single nucleotide variant not provided [RCV002020024] Chr5:53100425 [GRCh38]
Chr5:52396255 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.-625G>A single nucleotide variant not provided [RCV001906459] Chr5:53109706 [GRCh38]
Chr5:52405536 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.38C>G (p.Ala13Gly) single nucleotide variant not provided [RCV002014597] Chr5:53108624 [GRCh38]
Chr5:52404454 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.65C>T (p.Pro22Leu) single nucleotide variant not provided [RCV001901099] Chr5:53107110 [GRCh38]
Chr5:52402940 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.140T>C (p.Ile47Thr) single nucleotide variant not provided [RCV001918486] Chr5:53102183 [GRCh38]
Chr5:52398013 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.472_477del (p.Leu158_Lys159del) deletion not provided [RCV002012393] Chr5:53100435..53100440 [GRCh38]
Chr5:52396265..52396270 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.500del (p.Lys167fs) deletion not provided [RCV001938211] Chr5:53100412 [GRCh38]
Chr5:52396242 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.233C>T (p.Thr78Ile) single nucleotide variant not provided [RCV002034043] Chr5:53101503 [GRCh38]
Chr5:52397333 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.-620C>T single nucleotide variant not provided [RCV001878410] Chr5:53109701 [GRCh38]
Chr5:52405531 [GRCh37]
Chr5:5q11.2		 likely benign|uncertain significance
NM_004531.5(MOCS2):c.-628A>G single nucleotide variant not provided [RCV001940694] Chr5:53109709 [GRCh38]
Chr5:52405539 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.8C>T (p.Pro3Leu) single nucleotide variant not provided [RCV001934833] Chr5:53109722 [GRCh38]
Chr5:52405552 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.128C>A (p.Ser43Tyr) single nucleotide variant not provided [RCV002017537] Chr5:53102195 [GRCh38]
Chr5:52398025 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.514G>C (p.Glu172Gln) single nucleotide variant not provided [RCV001976307] Chr5:53098655 [GRCh38]
Chr5:52394485 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.53C>T (p.Pro18Leu) single nucleotide variant not provided [RCV001920980] Chr5:53107122 [GRCh38]
Chr5:52402952 [GRCh37]
Chr5:5q11.2		 likely benign|uncertain significance
NM_004531.5(MOCS2):c.433G>C (p.Ala145Pro) single nucleotide variant not provided [RCV002034074] Chr5:53100479 [GRCh38]
Chr5:52396309 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.26C>T (p.Ser9Leu) single nucleotide variant not provided [RCV001938778] Chr5:53107149 [GRCh38]
Chr5:52402979 [GRCh37]
Chr5:5q11.2		 likely benign|uncertain significance
NM_004531.5(MOCS2):c.325G>A (p.Asp109Asn) single nucleotide variant not provided [RCV001959836] Chr5:53101411 [GRCh38]
Chr5:52397241 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.57_58del (p.Gly20fs) deletion not provided [RCV001960658] Chr5:53108604..53108605 [GRCh38]
Chr5:52404434..52404435 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_004531.5(MOCS2):c.419C>T (p.Ser140Phe) single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV004690167]|not provided [RCV001899103] Chr5:53100493 [GRCh38]
Chr5:52396323 [GRCh37]
Chr5:5q11.2		 likely pathogenic|uncertain significance
NM_004531.5(MOCS2):c.60C>T (p.Ser20=) single nucleotide variant not provided [RCV001974975] Chr5:53107115 [GRCh38]
Chr5:52402945 [GRCh37]
Chr5:5q11.2		 likely benign|uncertain significance
NM_004531.5(MOCS2):c.109_112del (p.Asp37fs) deletion not provided [RCV001916040] Chr5:53102211..53102214 [GRCh38]
Chr5:52398041..52398044 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_004531.5(MOCS2):c.121G>A (p.Glu41Lys) single nucleotide variant not provided [RCV002026494] Chr5:53102202 [GRCh38]
Chr5:52398032 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.98+17T>A single nucleotide variant not provided [RCV002166038] Chr5:53107060 [GRCh38]
Chr5:52402890 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.-620C>A single nucleotide variant not provided [RCV002091028] Chr5:53109701 [GRCh38]
Chr5:52405531 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.98+13T>A single nucleotide variant not provided [RCV002209038] Chr5:53107064 [GRCh38]
Chr5:52402894 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.227-11C>T single nucleotide variant not provided [RCV002089365] Chr5:53101520 [GRCh38]
Chr5:52397350 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.378-7G>A single nucleotide variant not provided [RCV002076314] Chr5:53100541 [GRCh38]
Chr5:52396371 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.378-13C>T single nucleotide variant not provided [RCV002173640] Chr5:53100547 [GRCh38]
Chr5:52396377 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.378-19del deletion not provided [RCV002151483] Chr5:53100553 [GRCh38]
Chr5:52396383 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.153C>T (p.Ala51=) single nucleotide variant not provided [RCV002196828] Chr5:53102170 [GRCh38]
Chr5:52398000 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.183G>A (p.Gln61=) single nucleotide variant not provided [RCV002114994] Chr5:53102140 [GRCh38]
Chr5:52397970 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.333G>A (p.Arg111=) single nucleotide variant not provided [RCV002175073] Chr5:53101403 [GRCh38]
Chr5:52397233 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.219A>G (p.Leu73=) single nucleotide variant not provided [RCV002213744] Chr5:53102104 [GRCh38]
Chr5:52397934 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.98+8A>T single nucleotide variant not provided [RCV002173587] Chr5:53107069 [GRCh38]
Chr5:52402899 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.-169-9T>C single nucleotide variant not provided [RCV002074872] Chr5:53108652 [GRCh38]
Chr5:52404482 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.378-19dup duplication not provided [RCV002152949] Chr5:53100552..53100553 [GRCh38]
Chr5:52396382..52396383 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.198G>A (p.Pro66=) single nucleotide variant not provided [RCV002080352] Chr5:53102125 [GRCh38]
Chr5:52397955 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.501+7T>A single nucleotide variant not provided [RCV002095036] Chr5:53100404 [GRCh38]
Chr5:52396234 [GRCh37]
Chr5:5q11.2		 likely benign
NM_176806.4(MOCS2):c.6G>T (p.Val2=) single nucleotide variant not provided [RCV002110459] Chr5:53109724 [GRCh38]
Chr5:52405554 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.471T>G (p.Thr157=) single nucleotide variant not provided [RCV002099007] Chr5:53100441 [GRCh38]
Chr5:52396271 [GRCh37]
Chr5:5q11.2		 likely benign
NM_176806.4(MOCS2):c.6G>A (p.Val2=) single nucleotide variant not provided [RCV002121126] Chr5:53109724 [GRCh38]
Chr5:52405554 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.227-12dup duplication not provided [RCV002139448] Chr5:53101520..53101521 [GRCh38]
Chr5:52397350..52397351 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.378-15T>C single nucleotide variant not provided [RCV002183318] Chr5:53100549 [GRCh38]
Chr5:52396379 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.-47-18A>G single nucleotide variant not provided [RCV002175519] Chr5:53107239 [GRCh38]
Chr5:52403069 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.471T>C (p.Thr157=) single nucleotide variant not provided [RCV002144564] Chr5:53100441 [GRCh38]
Chr5:52396271 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.-169-8A>T single nucleotide variant not provided [RCV002203870] Chr5:53108651 [GRCh38]
Chr5:52404481 [GRCh37]
Chr5:5q11.2		 likely benign
NM_176806.4(MOCS2):c.152T>C (p.Val51Ala) single nucleotide variant not provided [RCV002099400] Chr5:53107210 [GRCh38]
Chr5:52403040 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.226+9T>C single nucleotide variant not provided [RCV002144279] Chr5:53102088 [GRCh38]
Chr5:52397918 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.58del (p.Ser20fs) deletion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV003148073] Chr5:53107117 [GRCh38]
Chr5:52402947 [GRCh37]
Chr5:5q11.2		 likely pathogenic
NM_004531.5(MOCS2):c.82G>A (p.Ala28Thr) single nucleotide variant not provided [RCV002837538] Chr5:53107093 [GRCh38]
Chr5:52402923 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.81T>G (p.Ser27Arg) single nucleotide variant not provided [RCV002858180] Chr5:53107094 [GRCh38]
Chr5:52402924 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.149C>G (p.Thr50Ser) single nucleotide variant not provided [RCV002615132] Chr5:53102174 [GRCh38]
Chr5:52398004 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.267C>T (p.Ser89=) single nucleotide variant not provided [RCV002776344] Chr5:53101469 [GRCh38]
Chr5:52397299 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.428A>G (p.His143Arg) single nucleotide variant not provided [RCV003032886] Chr5:53100484 [GRCh38]
Chr5:52396314 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.377+5G>C single nucleotide variant not provided [RCV003011726] Chr5:53101354 [GRCh38]
Chr5:52397184 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.402C>G (p.Ser134Arg) single nucleotide variant not provided [RCV002843122] Chr5:53100510 [GRCh38]
Chr5:52396340 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.9G>T (p.Pro3=) single nucleotide variant not provided [RCV002862555] Chr5:53109721 [GRCh38]
Chr5:52405551 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.411T>G (p.Ile137Met) single nucleotide variant not provided [RCV002614810] Chr5:53100501 [GRCh38]
Chr5:52396331 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.54A>T (p.Ile18=) single nucleotide variant not provided [RCV003076502] Chr5:53108608 [GRCh38]
Chr5:52404438 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.367del (p.His123fs) deletion not provided [RCV003017593] Chr5:53101369 [GRCh38]
Chr5:52397199 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_004531.5(MOCS2):c.239A>G (p.Asn80Ser) single nucleotide variant not provided [RCV003032732] Chr5:53101497 [GRCh38]
Chr5:52397327 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.118G>A (p.Glu40Lys) single nucleotide variant not provided [RCV002616254] Chr5:53102205 [GRCh38]
Chr5:52398035 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.-623_-621del deletion not provided [RCV002750409] Chr5:53109702..53109704 [GRCh38]
Chr5:52405532..52405534 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.60_70del (p.Pro21fs) deletion not provided [RCV002862738] Chr5:53107105..53107115 [GRCh38]
Chr5:52402935..52402945 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_004531.5(MOCS2):c.136G>A (p.Val46Ile) single nucleotide variant not provided [RCV002613397] Chr5:53102187 [GRCh38]
Chr5:52398017 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.156G>T (p.Glu52Asp) single nucleotide variant Inborn genetic diseases [RCV002793958] Chr5:53102167 [GRCh38]
Chr5:52397997 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.76A>G (p.Ile26Val) single nucleotide variant not provided [RCV002880670] Chr5:53108586 [GRCh38]
Chr5:52404416 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.48T>A (p.Ala16=) single nucleotide variant not provided [RCV002848060] Chr5:53108614 [GRCh38]
Chr5:52404444 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.294G>T (p.Met98Ile) single nucleotide variant not provided [RCV002785551] Chr5:53101442 [GRCh38]
Chr5:52397272 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.65C>G (p.Pro22Arg) single nucleotide variant not provided [RCV002927694] Chr5:53107110 [GRCh38]
Chr5:52402940 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.344C>T (p.Pro115Leu) single nucleotide variant not provided [RCV002926605] Chr5:53101392 [GRCh38]
Chr5:52397222 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.126A>C (p.Glu42Asp) single nucleotide variant not provided [RCV003100381] Chr5:53108536 [GRCh38]
Chr5:52404366 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.18+1G>A single nucleotide variant not provided [RCV002975758] Chr5:53109711 [GRCh38]
Chr5:52405541 [GRCh37]
Chr5:5q11.2		 likely pathogenic
NM_004531.5(MOCS2):c.297G>A (p.Ala99=) single nucleotide variant not provided [RCV002637838] Chr5:53101439 [GRCh38]
Chr5:52397269 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.512A>G (p.Glu171Gly) single nucleotide variant not provided [RCV002913040] Chr5:53098657 [GRCh38]
Chr5:52394487 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.33C>A (p.Phe11Leu) single nucleotide variant not provided [RCV002591997] Chr5:53107142 [GRCh38]
Chr5:52402972 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.30G>T (p.Leu10Phe) single nucleotide variant not provided [RCV002639048] Chr5:53108632 [GRCh38]
Chr5:52404462 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.501G>A (p.Lys167=) single nucleotide variant not provided [RCV002766693] Chr5:53100411 [GRCh38]
Chr5:52396241 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.99-2A>G single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV004700890]|not provided [RCV003026237] Chr5:53102226 [GRCh38]
Chr5:52398056 [GRCh37]
Chr5:5q11.2		 likely pathogenic
NM_176806.4(MOCS2):c.42A>T (p.Lys14Asn) single nucleotide variant not provided [RCV002745808] Chr5:53108620 [GRCh38]
Chr5:52404450 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.85T>C (p.Phe29Leu) single nucleotide variant not provided [RCV002791532] Chr5:53107090 [GRCh38]
Chr5:52402920 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.164C>G (p.Ser55Ter) single nucleotide variant not provided [RCV002643470] Chr5:53102159 [GRCh38]
Chr5:52397989 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_004531.5(MOCS2):c.160C>G (p.Leu54Val) single nucleotide variant not provided [RCV002851601] Chr5:53102163 [GRCh38]
Chr5:52397993 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.234A>C (p.Thr78=) single nucleotide variant not provided [RCV002640715] Chr5:53101502 [GRCh38]
Chr5:52397332 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.78T>C (p.Asp26=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV003333234]|not provided [RCV002640725] Chr5:53107097 [GRCh38]
Chr5:52402927 [GRCh37]
Chr5:5q11.2		 likely pathogenic|uncertain significance
NM_176806.4(MOCS2):c.117G>T (p.Lys39Asn) single nucleotide variant not provided [RCV003082623] Chr5:53108545 [GRCh38]
Chr5:52404375 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.88C>T (p.Gln30Ter) single nucleotide variant not provided [RCV003085732] Chr5:53108574 [GRCh38]
Chr5:52404404 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_004531.5(MOCS2):c.4T>G (p.Ser2Ala) single nucleotide variant not provided [RCV002871954] Chr5:53107171 [GRCh38]
Chr5:52403001 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.555A>T (p.Ala185=) single nucleotide variant not provided [RCV002624641] Chr5:53098614 [GRCh38]
Chr5:52394444 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.-169-18C>G single nucleotide variant not provided [RCV002710655] Chr5:53108661 [GRCh38]
Chr5:52404491 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.138T>G (p.Val46=) single nucleotide variant not provided [RCV002801104] Chr5:53102185 [GRCh38]
Chr5:52398015 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.99-14T>C single nucleotide variant not provided [RCV002581858] Chr5:53102238 [GRCh38]
Chr5:52398068 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.519A>G (p.Ser173=) single nucleotide variant not provided [RCV002937613] Chr5:53098650 [GRCh38]
Chr5:52394480 [GRCh37]
Chr5:5q11.2		 likely benign
NM_176806.4(MOCS2):c.20T>C (p.Val7Ala) single nucleotide variant Inborn genetic diseases [RCV002897839] Chr5:53108642 [GRCh38]
Chr5:52404472 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.502-7T>A single nucleotide variant not provided [RCV002714903] Chr5:53098674 [GRCh38]
Chr5:52394504 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.24C>T (p.Ser8=) single nucleotide variant Inborn genetic diseases [RCV002717649] Chr5:53107151 [GRCh38]
Chr5:52402981 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.460G>A (p.Ala154Thr) single nucleotide variant not provided [RCV003061484] Chr5:53100452 [GRCh38]
Chr5:52396282 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV003088518] Chr5:53107173 [GRCh38]
Chr5:52403003 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.322A>G (p.Ser108Gly) single nucleotide variant not provided [RCV002806547] Chr5:53101414 [GRCh38]
Chr5:52397244 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.450T>C (p.Ala150=) single nucleotide variant not provided [RCV002600951] Chr5:53100462 [GRCh38]
Chr5:52396292 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.77A>T (p.Asp26Val) single nucleotide variant not provided [RCV002900157] Chr5:53107098 [GRCh38]
Chr5:52402928 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.507A>G (p.Ile169Met) single nucleotide variant not provided [RCV003043750] Chr5:53098662 [GRCh38]
Chr5:52394492 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.169G>T (p.Asp57Tyr) single nucleotide variant not provided [RCV002600089] Chr5:53102154 [GRCh38]
Chr5:52397984 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.550T>C (p.Trp184Arg) single nucleotide variant not provided [RCV003049191] Chr5:53098619 [GRCh38]
Chr5:52394449 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.302A>G (p.Asn101Ser) single nucleotide variant not provided [RCV003087173] Chr5:53101434 [GRCh38]
Chr5:52397264 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.-48+18G>A single nucleotide variant not provided [RCV002632523] Chr5:53108504 [GRCh38]
Chr5:52404334 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.-48+16T>G single nucleotide variant not provided [RCV002725399] Chr5:53108506 [GRCh38]
Chr5:52404336 [GRCh37]
Chr5:5q11.2		 likely benign
NM_176806.4(MOCS2):c.111G>A (p.Leu37=) single nucleotide variant not provided [RCV002584955] Chr5:53108551 [GRCh38]
Chr5:52404381 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.-169-19G>T single nucleotide variant not provided [RCV002586993] Chr5:53108662 [GRCh38]
Chr5:52404492 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.227-17_227-16insTTTCT microsatellite not provided [RCV002610980] Chr5:53101525..53101526 [GRCh38]
Chr5:52397355..52397356 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.118G>T (p.Glu40Ter) single nucleotide variant not provided [RCV002610415] Chr5:53102205 [GRCh38]
Chr5:52398035 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_176806.4(MOCS2):c.18+1G>C single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV003333678] Chr5:53109711 [GRCh38]
Chr5:52405541 [GRCh37]
Chr5:5q11.2		 likely pathogenic
NM_004531.5(MOCS2):c.328A>G (p.Ile110Val) single nucleotide variant Inborn genetic diseases [RCV003369331] Chr5:53101408 [GRCh38]
Chr5:52397238 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.108G>A (p.Gln36=) single nucleotide variant not provided [RCV003570801] Chr5:53108554 [GRCh38]
Chr5:52404384 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.378-19T>C single nucleotide variant not provided [RCV003880395] Chr5:53100553 [GRCh38]
Chr5:52396383 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.*371C>T single nucleotide variant not provided [RCV003429636] Chr5:53098231 [GRCh38]
Chr5:52394061 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.377+19C>T single nucleotide variant not provided [RCV003544702] Chr5:53101340 [GRCh38]
Chr5:52397170 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.502-15G>A single nucleotide variant not provided [RCV003579315] Chr5:53098682 [GRCh38]
Chr5:52394512 [GRCh37]
Chr5:5q11.2		 likely benign
NM_176806.4(MOCS2):c.48T>C (p.Ala16=) single nucleotide variant not provided [RCV003696761] Chr5:53108614 [GRCh38]
Chr5:52404444 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.-619G>T single nucleotide variant not provided [RCV003663281] Chr5:53109700 [GRCh38]
Chr5:52405530 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.-47-6del deletion not provided [RCV003573205] Chr5:53107227 [GRCh38]
Chr5:52403057 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.390G>A (p.Val130=) single nucleotide variant not provided [RCV003739010] Chr5:53100522 [GRCh38]
Chr5:52396352 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.377+4T>C single nucleotide variant not specified [RCV003489743] Chr5:53101355 [GRCh38]
Chr5:52397185 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.3G>T (p.Met1Ile) single nucleotide variant not provided [RCV003694397] Chr5:53109727 [GRCh38]
Chr5:52405557 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_004531.5(MOCS2):c.226+16C>A single nucleotide variant not provided [RCV003575431] Chr5:53102081 [GRCh38]
Chr5:52397911 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.210A>G (p.Ala70=) single nucleotide variant not provided [RCV003577445] Chr5:53102113 [GRCh38]
Chr5:52397943 [GRCh37]
Chr5:5q11.2		 likely benign
NM_176806.4(MOCS2):c.102G>T (p.Ala34=) single nucleotide variant not provided [RCV003714181] Chr5:53108560 [GRCh38]
Chr5:52404390 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.393A>G (p.Ser131=) single nucleotide variant not provided [RCV003690514] Chr5:53100519 [GRCh38]
Chr5:52396349 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.377+13T>G single nucleotide variant not provided [RCV003575309] Chr5:53101346 [GRCh38]
Chr5:52397176 [GRCh37]
Chr5:5q11.2		 likely benign
NM_176806.4(MOCS2):c.120G>A (p.Glu40=) single nucleotide variant not provided [RCV003547884] Chr5:53108542 [GRCh38]
Chr5:52404372 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.-47-14T>A single nucleotide variant not provided [RCV003573790] Chr5:53107235 [GRCh38]
Chr5:52403065 [GRCh37]
Chr5:5q11.2		 likely benign
NM_176806.4(MOCS2):c.12del (p.Cys5fs) deletion not provided [RCV003689813] Chr5:53109718 [GRCh38]
Chr5:52405548 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_176806.4(MOCS2):c.81T>G (p.Ser27=) single nucleotide variant not provided [RCV003688384] Chr5:53108581 [GRCh38]
Chr5:52404411 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.227-10A>G single nucleotide variant not provided [RCV003714429] Chr5:53101519 [GRCh38]
Chr5:52397349 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.-47-6C>G single nucleotide variant not provided [RCV003690329] Chr5:53107227 [GRCh38]
Chr5:52403057 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.377+20T>C single nucleotide variant not provided [RCV003547606] Chr5:53101339 [GRCh38]
Chr5:52397169 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.228G>T (p.Gly76=) single nucleotide variant not provided [RCV003662463] Chr5:53101508 [GRCh38]
Chr5:52397338 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.273A>G (p.Glu91=) single nucleotide variant not provided [RCV003716313] Chr5:53101463 [GRCh38]
Chr5:52397293 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.217del (p.Leu73fs) deletion not provided [RCV003691506] Chr5:53102106 [GRCh38]
Chr5:52397936 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_004531.5(MOCS2):c.426C>T (p.Ala142=) single nucleotide variant not provided [RCV003697443] Chr5:53100486 [GRCh38]
Chr5:52396316 [GRCh37]
Chr5:5q11.2		 likely benign
NM_176806.4(MOCS2):c.78T>C (p.Ile26=) single nucleotide variant not provided [RCV003580106] Chr5:53108584 [GRCh38]
Chr5:52404414 [GRCh37]
Chr5:5q11.2		 likely benign
NM_176806.4(MOCS2):c.142T>C (p.Leu48=) single nucleotide variant not provided [RCV003832519] Chr5:53107220 [GRCh38]
Chr5:52403050 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.63C>G (p.Pro21=) single nucleotide variant not provided [RCV004585573] Chr5:53107112 [GRCh38]
Chr5:52402942 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.106_107del (p.Met36fs) microsatellite not provided [RCV003856773] Chr5:53102216..53102217 [GRCh38]
Chr5:52398046..52398047 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_004531.5(MOCS2):c.134del (p.Asp45fs) deletion not provided [RCV003699528] Chr5:53102189 [GRCh38]
Chr5:52398019 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_004531.5(MOCS2):c.-47-10del deletion not provided [RCV003839863] Chr5:53107231 [GRCh38]
Chr5:52403061 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.389T>G (p.Val130Gly) single nucleotide variant not provided [RCV003702012] Chr5:53100523 [GRCh38]
Chr5:52396353 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.226+17A>G single nucleotide variant not provided [RCV003698068] Chr5:53102080 [GRCh38]
Chr5:52397910 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.99-18T>G single nucleotide variant not provided [RCV003699555] Chr5:53102242 [GRCh38]
Chr5:52398072 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.-48+7A>T single nucleotide variant not provided [RCV003839395] Chr5:53108515 [GRCh38]
Chr5:52404345 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.502-14A>G single nucleotide variant not provided [RCV003697725] Chr5:53098681 [GRCh38]
Chr5:52394511 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.165A>G (p.Ser55=) single nucleotide variant not provided [RCV003838807] Chr5:53102158 [GRCh38]
Chr5:52397988 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.501+19A>G single nucleotide variant not provided [RCV003667381] Chr5:53100392 [GRCh38]
Chr5:52396222 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.65C>A (p.Pro22Gln) single nucleotide variant not provided [RCV003561619] Chr5:53107110 [GRCh38]
Chr5:52402940 [GRCh37]
Chr5:5q11.2		 likely benign
NM_176806.4(MOCS2):c.72G>A (p.Glu24=) single nucleotide variant not provided [RCV003673306] Chr5:53108590 [GRCh38]
Chr5:52404420 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.271G>T (p.Glu91Ter) single nucleotide variant not provided [RCV003700157] Chr5:53101465 [GRCh38]
Chr5:52397295 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_004531.5(MOCS2):c.377+11C>T single nucleotide variant not provided [RCV003723638] Chr5:53101348 [GRCh38]
Chr5:52397178 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.438A>G (p.Ala146=) single nucleotide variant not provided [RCV003669784] Chr5:53100474 [GRCh38]
Chr5:52396304 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.227-12del deletion not provided [RCV003557812] Chr5:53101521 [GRCh38]
Chr5:52397351 [GRCh37]
Chr5:5q11.2		 benign
NM_004531.5(MOCS2):c.98+14G>A single nucleotide variant not provided [RCV003672143] Chr5:53107063 [GRCh38]
Chr5:52402893 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.-617G>T single nucleotide variant not provided [RCV003700115] Chr5:53109698 [GRCh38]
Chr5:52405528 [GRCh37]
Chr5:5q11.2		 likely benign
NM_176806.4(MOCS2):c.138T>C (p.Pro46=) single nucleotide variant not provided [RCV003699225] Chr5:53108524 [GRCh38]
Chr5:52404354 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.417G>A (p.Val139=) single nucleotide variant not provided [RCV003579883] Chr5:53100495 [GRCh38]
Chr5:52396325 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.168del (p.Asp57fs) deletion not provided [RCV003707135] Chr5:53102155 [GRCh38]
Chr5:52397985 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_004531.5(MOCS2):c.227-12_227-11insTTTG insertion not provided [RCV003847491] Chr5:53101520..53101521 [GRCh38]
Chr5:52397350..52397351 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.400_403dup (p.Ile135fs) microsatellite not provided [RCV003676935] Chr5:53100508..53100509 [GRCh38]
Chr5:52396338..52396339 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_176806.4(MOCS2):c.90A>G (p.Gln30=) single nucleotide variant not provided [RCV003563619] Chr5:53108572 [GRCh38]
Chr5:52404402 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.396A>G (p.Glu132=) single nucleotide variant not provided [RCV003566499] Chr5:53100516 [GRCh38]
Chr5:52396346 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.292del (p.Met98fs) deletion not provided [RCV003542937] Chr5:53101444 [GRCh38]
Chr5:52397274 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_004531.5(MOCS2):c.98+17T>C single nucleotide variant not provided [RCV003566866] Chr5:53107060 [GRCh38]
Chr5:52402890 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.-47-9C>T single nucleotide variant not provided [RCV003680494] Chr5:53107230 [GRCh38]
Chr5:52403060 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.336G>A (p.Gln112=) single nucleotide variant not provided [RCV003565997] Chr5:53101400 [GRCh38]
Chr5:52397230 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.-169-2A>G single nucleotide variant not provided [RCV003567906] Chr5:53108645 [GRCh38]
Chr5:52404475 [GRCh37]
Chr5:5q11.2		 likely pathogenic
NM_176806.4(MOCS2):c.18+2T>A single nucleotide variant not provided [RCV003557142] Chr5:53109710 [GRCh38]
Chr5:52405540 [GRCh37]
Chr5:5q11.2		 likely pathogenic
NM_004531.5(MOCS2):c.-169-18C>T single nucleotide variant not provided [RCV003720953] Chr5:53108661 [GRCh38]
Chr5:52404491 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.99-6_99-5del deletion not provided [RCV003684251] Chr5:53102229..53102230 [GRCh38]
Chr5:52398059..52398060 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.360A>G (p.Ala120=) single nucleotide variant not provided [RCV003845166] Chr5:53101376 [GRCh38]
Chr5:52397206 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.377+17C>G single nucleotide variant not provided [RCV003735811] Chr5:53101342 [GRCh38]
Chr5:52397172 [GRCh37]
Chr5:5q11.2		 likely benign
NM_176806.4(MOCS2):c.69A>G (p.Ser23=) single nucleotide variant not provided [RCV003736017] Chr5:53108593 [GRCh38]
Chr5:52404423 [GRCh37]
Chr5:5q11.2		 likely benign
GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1 copy number loss not specified [RCV003986571] Chr5:49430268..57925870 [GRCh37]
Chr5:5q11.1-11.2		 likely pathogenic
NM_004531.5(MOCS2):c.-47-15T>C single nucleotide variant not provided [RCV003737068] Chr5:53107236 [GRCh38]
Chr5:52403066 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.-618G>A single nucleotide variant not provided [RCV003678711] Chr5:53109699 [GRCh38]
Chr5:52405529 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.378-10C>T single nucleotide variant not provided [RCV003706644] Chr5:53100544 [GRCh38]
Chr5:52396374 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.99-8A>C single nucleotide variant not provided [RCV003684252] Chr5:53102232 [GRCh38]
Chr5:52398062 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.227-16T>C single nucleotide variant not provided [RCV003847492] Chr5:53101525 [GRCh38]
Chr5:52397355 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.502-19T>C single nucleotide variant not provided [RCV003679367] Chr5:53098686 [GRCh38]
Chr5:52394516 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.207T>G (p.Gly69=) single nucleotide variant not provided [RCV003679775] Chr5:53102116 [GRCh38]
Chr5:52397946 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.304G>T (p.Glu102Ter) single nucleotide variant Combined molybdoflavoprotein enzyme deficiency [RCV004701814]|not provided [RCV003733759] Chr5:53101432 [GRCh38]
Chr5:52397262 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_004531.5(MOCS2):c.-611G>T single nucleotide variant not provided [RCV003676915] Chr5:53109692 [GRCh38]
Chr5:52405522 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.147del (p.Phe49fs) deletion not provided [RCV003563697] Chr5:53102176 [GRCh38]
Chr5:52398006 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_004531.5(MOCS2):c.-169-1G>A single nucleotide variant not provided [RCV003563379] Chr5:53108644 [GRCh38]
Chr5:52404474 [GRCh37]
Chr5:5q11.2		 likely pathogenic
NM_176806.4(MOCS2):c.174T>G (p.Ala58=) single nucleotide variant not provided [RCV003678214] Chr5:53107188 [GRCh38]
Chr5:52403018 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.226+19T>C single nucleotide variant not provided [RCV003565174] Chr5:53102078 [GRCh38]
Chr5:52397908 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.469dup (p.Thr157fs) duplication not provided [RCV003678524] Chr5:53100442..53100443 [GRCh38]
Chr5:52396272..52396273 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_004531.5(MOCS2):c.216C>T (p.Ser72=) single nucleotide variant not provided [RCV003863448] Chr5:53102107 [GRCh38]
Chr5:52397937 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.345A>G (p.Pro115=) single nucleotide variant not provided [RCV003554871] Chr5:53101391 [GRCh38]
Chr5:52397221 [GRCh37]
Chr5:5q11.2		 likely benign
NM_176806.4(MOCS2):c.10C>T (p.Leu4=) single nucleotide variant not provided [RCV003676519] Chr5:53109720 [GRCh38]
Chr5:52405550 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.-169-4T>G single nucleotide variant not provided [RCV003541981] Chr5:53108647 [GRCh38]
Chr5:52404477 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.54G>A (p.Pro18=) single nucleotide variant not provided [RCV003736320] Chr5:53107121 [GRCh38]
Chr5:52402951 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.76G>C (p.Asp26His) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV004527562] Chr5:53107099 [GRCh38]
Chr5:52402929 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_004531.5(MOCS2):c.502-3T>C single nucleotide variant MOCS2-related disorder [RCV003936792] Chr5:53098670 [GRCh38]
Chr5:52394500 [GRCh37]
Chr5:5q11.2		 likely benign
NM_004531.5(MOCS2):c.214_215insA (p.Ser72fs) insertion Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV003989069] Chr5:53102108..53102109 [GRCh38]
Chr5:52397938..52397939 [GRCh37]
Chr5:5q11.2		 uncertain significance
NC_000005.9:g.(?_52394432)_(52404493_?)del deletion not provided [RCV004580615] Chr5:52394432..52404493 [GRCh37]
Chr5:5q11.2		 pathogenic
NC_000005.9:g.(?_52394432)_(52405559_?)del deletion not provided [RCV004580678] Chr5:52394432..52405559 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_176806.4(MOCS2):c.101C>T (p.Ala34Val) single nucleotide variant Inborn genetic diseases [RCV004629044] Chr5:53108561 [GRCh38]
Chr5:52404391 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_176806.4(MOCS2):c.170T>C (p.Phe57Ser) single nucleotide variant not provided [RCV004774252] Chr5:53107192 [GRCh38]
Chr5:52403022 [GRCh37]
Chr5:5q11.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3070
Count of miRNA genes:836
Interacting mature miRNAs:977
Transcripts:ENST00000361377, ENST00000396954, ENST00000450852, ENST00000502402, ENST00000508922, ENST00000510818, ENST00000514553, ENST00000527216, ENST00000582677, ENST00000584946
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407271972GWAS920948_Hbody height QTL GWAS920948 (human)5e-20body height (VT:0001253)body height (CMO:0000106)55310848253108483Human

Markers in Region
RH15640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,393,950 - 52,394,152UniSTSGRCh37
Build 36552,429,707 - 52,429,909RGDNCBI36
Celera549,347,528 - 49,347,730RGD
Cytogenetic Map5q11UniSTS
HuRef549,365,999 - 49,366,201UniSTS
GeneMap99-GB4 RH Map5270.05UniSTS
RH119712  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,395,112 - 52,395,437UniSTSGRCh37
Build 36552,430,869 - 52,431,194RGDNCBI36
Celera549,348,690 - 49,349,015RGD
Cytogenetic Map5q11UniSTS
HuRef549,367,162 - 49,367,487UniSTS
TNG Radiation Hybrid Map523736.0UniSTS
G62050  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,393,993 - 52,394,139UniSTSGRCh37
Build 36552,429,750 - 52,429,896RGDNCBI36
Celera549,347,571 - 49,347,717RGD
Cytogenetic Map5q11UniSTS
HuRef549,366,042 - 49,366,188UniSTS
D5S2664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,394,002 - 52,394,139UniSTSGRCh37
Build 36552,429,759 - 52,429,896RGDNCBI36
Celera549,347,580 - 49,347,717RGD
Cytogenetic Map5q11UniSTS
HuRef549,366,051 - 49,366,188UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1950 465 2270 7305 6471 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_176806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA252410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF091871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF117815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF155659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC095417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB050849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD514049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA967651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB937954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC995363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000361377   ⟹   ENSP00000355160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl553,095,679 - 53,109,771 (-)Ensembl
Ensembl Acc Id: ENST00000396954   ⟹   ENSP00000380157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl553,095,679 - 53,109,757 (-)Ensembl
Ensembl Acc Id: ENST00000450852   ⟹   ENSP00000411022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl553,095,679 - 53,109,757 (-)Ensembl
Ensembl Acc Id: ENST00000502402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl553,098,067 - 53,108,097 (-)Ensembl
Ensembl Acc Id: ENST00000508922   ⟹   ENSP00000426274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl553,098,099 - 53,109,762 (-)Ensembl
Ensembl Acc Id: ENST00000510818   ⟹   ENSP00000424267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl553,098,071 - 53,109,742 (-)Ensembl
Ensembl Acc Id: ENST00000514553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl553,101,126 - 53,109,727 (-)Ensembl
Ensembl Acc Id: ENST00000527216   ⟹   ENSP00000435326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl553,100,453 - 53,110,063 (-)Ensembl
Ensembl Acc Id: ENST00000582677   ⟹   ENSP00000462870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl553,098,384 - 53,109,777 (-)Ensembl
Ensembl Acc Id: ENST00000584946   ⟹   ENSP00000464663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl553,098,540 - 53,109,777 (-)Ensembl
RefSeq Acc Id: NM_004531   ⟹   NP_004522
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38553,095,679 - 53,109,757 (-)NCBI
GRCh37552,391,509 - 52,405,602 (-)NCBI
Build 36552,429,649 - 52,441,082 (-)NCBI Archive
HuRef549,363,558 - 49,377,653 (-)NCBI
CHM1_1552,394,058 - 52,408,152 (-)NCBI
T2T-CHM13v2.0553,923,465 - 53,937,543 (-)NCBI
Sequence:
RefSeq Acc Id: NM_176806   ⟹   NP_789776
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38553,095,679 - 53,109,757 (-)NCBI
GRCh37552,391,509 - 52,405,602 (-)NCBI
Build 36552,429,649 - 52,441,355 (-)NCBI Archive
HuRef549,363,558 - 49,377,653 (-)NCBI
CHM1_1552,394,058 - 52,408,152 (-)NCBI
T2T-CHM13v2.0553,923,465 - 53,937,543 (-)NCBI
Sequence:
RefSeq Acc Id: NP_789776   ⟸   NM_176806
- Peptide Label: small subunit MOCS2A
- UniProtKB: O96033 (UniProtKB/Swiss-Prot),   E9PKT9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004522   ⟸   NM_004531
- Peptide Label: large subunit MOCS2B
- UniProtKB: Q6IAI3 (UniProtKB/Swiss-Prot),   O96007 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000411022   ⟸   ENST00000450852
Ensembl Acc Id: ENSP00000462870   ⟸   ENST00000582677
Ensembl Acc Id: ENSP00000464663   ⟸   ENST00000584946
Ensembl Acc Id: ENSP00000355160   ⟸   ENST00000361377
Ensembl Acc Id: ENSP00000426274   ⟸   ENST00000508922
Ensembl Acc Id: ENSP00000424267   ⟸   ENST00000510818
Ensembl Acc Id: ENSP00000435326   ⟸   ENST00000527216
Ensembl Acc Id: ENSP00000380157   ⟸   ENST00000396954

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O96007-F1-model_v2 AlphaFold O96007 1-188 view protein structure

Promoters
RGD ID:6803386
Promoter ID:HG_KWN:50105
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:ENST00000361377,   NM_004531,   NM_176806,   UC003JPB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36552,441,151 - 52,441,651 (-)MPROMDB
RGD ID:6853222
Promoter ID:EP74432
Type:initiation region
Name:HS_MOCS2
Description:Molybdenum cofactor synthesis 2.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36552,441,342 - 52,441,402EPD
RGD ID:6869586
Promoter ID:EPDNEW_H7958
Type:initiation region
Name:MOCS2_1
Description:molybdenum cofactor synthesis 2
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
GRCh38553,109,755 - 53,109,815EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7193 AgrOrtholog
COSMIC MOCS2 COSMIC
Ensembl Genes ENSG00000164172 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000361377.8 UniProtKB/Swiss-Prot
  ENST00000396954 ENTREZGENE
  ENST00000396954.8 UniProtKB/Swiss-Prot
  ENST00000450852 ENTREZGENE
  ENST00000450852.8 UniProtKB/Swiss-Prot
  ENST00000508922.5 UniProtKB/Swiss-Prot
  ENST00000510818.6 UniProtKB/Swiss-Prot
  ENST00000527216.5 UniProtKB/TrEMBL
  ENST00000582677.5 UniProtKB/Swiss-Prot
  ENST00000584946.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.10.20.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.1170.40 UniProtKB/Swiss-Prot
GTEx ENSG00000164172 GTEx
HGNC ID HGNC:7193 ENTREZGENE
Human Proteome Map MOCS2 Human Proteome Map
InterPro Beta-grasp_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MoaE_sf UniProtKB/Swiss-Prot
  MOCS2A UniProtKB/Swiss-Prot
  MOCS2A UniProtKB/Swiss-Prot
  MOCS2A UniProtKB/TrEMBL
  MOCS2A UniProtKB/TrEMBL
  MOCS2B_euk UniProtKB/Swiss-Prot
  Mopterin_biosynth_MoaE UniProtKB/Swiss-Prot
  Mopterin_synth/thiamin_S_b UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ThiS/MoaD-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4338 UniProtKB/Swiss-Prot
NCBI Gene 4338 ENTREZGENE
OMIM 603708 OMIM
PANTHER MOLYBDOPTERIN SYNTHASE CATALYTIC SUBUNIT UniProtKB/Swiss-Prot
  MOLYBDOPTERIN SYNTHASE RELATED UniProtKB/Swiss-Prot
  MOLYBDOPTERIN SYNTHASE SULFUR CARRIER SUBUNIT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR33359 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MoaE UniProtKB/Swiss-Prot
  ThiS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30903 PharmGKB
Superfamily-SCOP SSF54285 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54690 UniProtKB/Swiss-Prot
UniProt E9PKT9 ENTREZGENE, UniProtKB/TrEMBL
  MOC2A_HUMAN UniProtKB/Swiss-Prot
  MOC2B_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  O96033 ENTREZGENE
  Q6IAI3 ENTREZGENE
UniProt Secondary Q6IAI3 UniProtKB/Swiss-Prot