TRMU (tRNA mitochondrial 2-thiouridylase) - Rat Genome Database

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Gene: TRMU (tRNA mitochondrial 2-thiouridylase) Homo sapiens
Analyze
Symbol: TRMU
Name: tRNA mitochondrial 2-thiouridylase
RGD ID: 1322577
HGNC Page HGNC
Description: Predicted to enable several functions, including ATP binding activity; tRNA binding activity; and tRNA-5-taurinomethyluridine 2-sulfurtransferase. Predicted to be involved in tRNA wobble position uridine thiolation. Located in mitochondrion. Implicated in aminoglycoside-induced deafness; infantile liver failure syndrome; and transient infantile liver failure.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: LCAL3; lung cancer associated lncRNA 3; MGC99627; mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase; mitochondrial tRNA-specific 2-thiouridylase 1; MTO2; MTO2 homolog; MTU1; TRMT; TRMT1; trna (5-methylaminomethyl-2-thiouridylate)-methyltransferase 1; tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase; TRNT1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2246,330,875 - 46,357,340 (+)EnsemblGRCh38hg38GRCh38
GRCh382246,335,714 - 46,357,340 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372246,731,611 - 46,753,237 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362245,109,962 - 45,131,901 (+)NCBINCBI36hg18NCBI36
Build 342245,051,840 - 45,073,755NCBI
Celera2230,638,682 - 30,660,621 (+)NCBI
Cytogenetic Map22q13.31NCBI
HuRef2229,675,305 - 29,697,244 (+)NCBIHuRef
CHM1_12246,690,038 - 46,711,977 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
mitochondrion  (IBA,IDA,ISS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abnormality of the cardiovascular system  (IAGP)
Abnormality of the coagulation cascade  (IAGP)
Acute hepatic failure  (IAGP)
Aminoglycoside-induced hearing loss  (IAGP)
Autosomal recessive inheritance  (IAGP)
Cirrhosis  (IAGP)
Cytochrome C oxidase-negative muscle fibers  (IAGP)
Decreased activity of mitochondrial complex I  (IAGP)
Decreased activity of mitochondrial complex IV  (IAGP)
Decreased plasma carnitine  (IAGP)
Delayed gross motor development  (IAGP)
Elevated alpha-fetoprotein  (IAGP)
Elevated circulating alanine aminotransferase concentration  (IAGP)
Elevated circulating aspartate aminotransferase concentration  (IAGP)
Elevated gamma-glutamyltransferase level  (IAGP)
Elevated hepatic transaminase  (IAGP)
Feeding difficulties in infancy  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Generalized hypotonia  (IAGP)
Hepatomegaly  (IAGP)
High palate  (IAGP)
Hyperbilirubinemia  (IAGP)
Hyporeflexia  (IAGP)
Increased muscle glycogen content  (IAGP)
Increased muscle lipid content  (IAGP)
Increased serum lactate  (IAGP)
Increased total bilirubin  (IAGP)
Intellectual disability  (IAGP)
Irritability  (IAGP)
Jaundice  (IAGP)
Lactic acidosis  (IAGP)
Lethargy  (IAGP)
Macroglossia  (IAGP)
Macrovesicular hepatic steatosis  (IAGP)
Microvesicular hepatic steatosis  (IAGP)
Mildly elevated creatine kinase  (IAGP)
Mitochondrial inheritance  (IAGP)
Mitochondrial respiratory chain defects  (IAGP)
Muscle weakness  (IAGP)
Myopathy  (IAGP)
Nasogastric tube feeding in infancy  (IAGP)
Pallor  (IAGP)
Poor suck  (IAGP)
Prolonged QT interval  (IAGP)
Ragged-red muscle fibers  (IAGP)
Recurrent infantile hypoglycemia  (IAGP)
Respiratory distress  (IAGP)
Severe lactic acidosis  (IAGP)
Ventilator dependence with inability to wean  (IAGP)
Vomiting  (IAGP)
References

Additional References at PubMed
PMID:10591208   PMID:12477932   PMID:14702039   PMID:14746906   PMID:15146197   PMID:15461802   PMID:15509579   PMID:15944150   PMID:16341674   PMID:16513084   PMID:16826519   PMID:18391568  
PMID:19209188   PMID:19338775   PMID:20301595   PMID:20301607   PMID:20877624   PMID:21153446   PMID:21873635   PMID:21890497   PMID:22504945   PMID:23510774   PMID:25149473   PMID:26186194  
PMID:28049726   PMID:28514442   PMID:30205178   PMID:31091453   PMID:32694731   PMID:33431792   PMID:33485800  


Genomics

Comparative Map Data
TRMU
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2246,330,875 - 46,357,340 (+)EnsemblGRCh38hg38GRCh38
GRCh382246,335,714 - 46,357,340 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372246,731,611 - 46,753,237 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362245,109,962 - 45,131,901 (+)NCBINCBI36hg18NCBI36
Build 342245,051,840 - 45,073,755NCBI
Celera2230,638,682 - 30,660,621 (+)NCBI
Cytogenetic Map22q13.31NCBI
HuRef2229,675,305 - 29,697,244 (+)NCBIHuRef
CHM1_12246,690,038 - 46,711,977 (+)NCBICHM1_1
Trmu
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391585,763,505 - 85,781,595 (+)NCBIGRCm39mm39
GRCm39 Ensembl1585,763,513 - 85,781,595 (+)Ensembl
GRCm381585,879,309 - 85,897,394 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1585,879,312 - 85,897,394 (+)EnsemblGRCm38mm10GRCm38
MGSCv371585,709,757 - 85,727,823 (+)NCBIGRCm37mm9NCBIm37
MGSCv361585,707,093 - 85,725,159 (+)NCBImm8
Celera1588,013,106 - 88,031,085 (+)NCBICelera
Cytogenetic Map15E2NCBI
Trmu
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27116,969,750 - 116,987,704 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl7116,969,756 - 116,986,355 (+)Ensembl
Rnor_6.07126,756,140 - 126,772,749 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7126,756,151 - 126,772,749 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07126,467,257 - 126,483,589 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47123,881,485 - 123,898,025 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17123,915,747 - 123,932,255 (+)NCBI
Celera7113,260,784 - 113,277,379 (+)NCBICelera
Cytogenetic Map7q34NCBI
Trmu
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541330,440,282 - 30,453,860 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541330,440,014 - 30,453,860 (+)NCBIChiLan1.0ChiLan1.0
TRMU
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12245,399,506 - 45,421,439 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2245,399,506 - 45,421,439 (+)Ensemblpanpan1.1panPan2
TRMU
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11019,841,813 - 19,859,514 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1019,841,854 - 19,859,470 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1019,764,367 - 19,782,082 (-)NCBI
ROS_Cfam_1.01020,575,454 - 20,593,140 (-)NCBI
UMICH_Zoey_3.11020,296,080 - 20,313,753 (-)NCBI
UNSW_CanFamBas_1.01020,608,580 - 20,626,275 (-)NCBI
UU_Cfam_GSD_1.01020,790,582 - 20,808,285 (-)NCBI
Trmu
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049453,570,169 - 3,589,343 (-)NCBI
SpeTri2.0NW_0049366293,570,163 - 3,589,324 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRMU
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl53,203,666 - 3,224,367 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.153,208,122 - 3,224,382 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.25571,288 - 583,273 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TRMU
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11928,816,293 - 28,838,259 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1928,816,524 - 28,837,935 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604596,691,214 - 96,713,268 (-)NCBIVero_WHO_p1.0
Trmu
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247523,538,558 - 3,552,847 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH102963  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372246,752,996 - 46,753,173UniSTSGRCh37
Build 362245,131,660 - 45,131,837RGDNCBI36
Celera2230,660,380 - 30,660,557RGD
Cytogenetic Map22q13UniSTS
HuRef2229,697,003 - 29,697,180UniSTS
GeneMap99-GB4 RH Map22153.15UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6191
Count of miRNA genes:1051
Interacting mature miRNAs:1297
Transcripts:ENST00000290846, ENST00000381019, ENST00000381021, ENST00000424260, ENST00000441818, ENST00000453630, ENST00000456595, ENST00000457572, ENST00000463785, ENST00000465378, ENST00000470831, ENST00000476901, ENST00000479648, ENST00000485175, ENST00000485559, ENST00000486620, ENST00000491612, ENST00000493556, ENST00000496831
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1483 1157 1205 181 1083 89 2827 728 2118 165 1317 1369 104 616 1633 3 1
Low 956 1827 521 443 860 376 1530 1469 1616 254 143 243 71 1 588 1155 3 1
Below cutoff 7 7

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB178028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF448221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY062123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC080631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM755897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX952612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN365141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN997542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ309998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ309999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ310000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000381019   ⟹   ENSP00000370407
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2246,335,745 - 46,357,184 (+)Ensembl
RefSeq Acc Id: ENST00000381021   ⟹   ENSP00000370409
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2246,335,425 - 46,357,337 (+)Ensembl
RefSeq Acc Id: ENST00000441818   ⟹   ENSP00000393014
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2246,335,401 - 46,357,335 (+)Ensembl
RefSeq Acc Id: ENST00000453630   ⟹   ENSP00000398488
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2246,335,425 - 46,357,337 (+)Ensembl
RefSeq Acc Id: ENST00000456595   ⟹   ENSP00000413880
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2246,335,425 - 46,357,337 (+)Ensembl
RefSeq Acc Id: ENST00000457572   ⟹   ENSP00000407700
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2246,335,425 - 46,357,337 (+)Ensembl
RefSeq Acc Id: ENST00000463785
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2246,350,345 - 46,352,841 (+)Ensembl
RefSeq Acc Id: ENST00000465378
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2246,335,922 - 46,352,911 (+)Ensembl
RefSeq Acc Id: ENST00000470831
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2246,354,710 - 46,357,338 (+)Ensembl
RefSeq Acc Id: ENST00000476901
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2246,330,875 - 46,333,699 (+)Ensembl
RefSeq Acc Id: ENST00000479648
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2246,351,650 - 46,352,312 (+)Ensembl
RefSeq Acc Id: ENST00000485175
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2246,335,958 - 46,352,329 (+)Ensembl
RefSeq Acc Id: ENST00000485559
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2246,353,517 - 46,357,339 (+)Ensembl
RefSeq Acc Id: ENST00000486620
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2246,331,447 - 46,352,330 (+)Ensembl
RefSeq Acc Id: ENST00000491612
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2246,352,829 - 46,357,337 (+)Ensembl
RefSeq Acc Id: ENST00000493556
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2246,335,689 - 46,338,211 (+)Ensembl
RefSeq Acc Id: ENST00000496831
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2246,335,895 - 46,350,420 (+)Ensembl
RefSeq Acc Id: ENST00000642562   ⟹   ENSP00000494679
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2246,335,725 - 46,350,392 (+)Ensembl
RefSeq Acc Id: ENST00000642923   ⟹   ENSP00000494255
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2246,335,893 - 46,356,071 (+)Ensembl
RefSeq Acc Id: ENST00000643137   ⟹   ENSP00000495331
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2246,336,145 - 46,357,016 (+)Ensembl
RefSeq Acc Id: ENST00000644006   ⟹   ENSP00000493778
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2246,335,951 - 46,356,979 (+)Ensembl
RefSeq Acc Id: ENST00000645026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2246,335,714 - 46,354,319 (+)Ensembl
RefSeq Acc Id: ENST00000645190   ⟹   ENSP00000496496
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2246,335,714 - 46,357,340 (+)Ensembl
RefSeq Acc Id: ENST00000647301   ⟹   ENSP00000496641
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2246,335,716 - 46,357,311 (+)Ensembl
RefSeq Acc Id: NM_001282782   ⟹   NP_001269711
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,335,714 - 46,357,340 (+)NCBI
HuRef2229,675,305 - 29,697,244 (+)NCBI
CHM1_12246,690,038 - 46,711,977 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282783   ⟹   NP_001269712
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,335,714 - 46,357,340 (+)NCBI
HuRef2229,675,305 - 29,697,244 (+)NCBI
CHM1_12246,690,038 - 46,711,977 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282784   ⟹   NP_001269713
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,335,714 - 46,357,340 (+)NCBI
HuRef2229,675,305 - 29,697,244 (+)NCBI
CHM1_12246,690,038 - 46,711,977 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282785   ⟹   NP_001269714
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,335,714 - 46,357,340 (+)NCBI
HuRef2229,675,305 - 29,697,244 (+)NCBI
CHM1_12246,690,038 - 46,711,977 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018006   ⟹   NP_060476
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,335,714 - 46,357,340 (+)NCBI
GRCh372246,731,298 - 46,753,237 (+)ENTREZGENE
GRCh372246,731,298 - 46,753,237 (+)NCBI
Build 362245,109,962 - 45,131,901 (+)NCBI Archive
HuRef2229,675,305 - 29,697,244 (+)ENTREZGENE
CHM1_12246,690,038 - 46,711,977 (+)NCBI
Sequence:
RefSeq Acc Id: NR_104240
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,335,714 - 46,357,340 (+)NCBI
HuRef2229,675,305 - 29,697,244 (+)NCBI
CHM1_12246,690,038 - 46,711,977 (+)NCBI
Sequence:
RefSeq Acc Id: NR_104241
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,335,714 - 46,357,340 (+)NCBI
HuRef2229,675,305 - 29,697,244 (+)NCBI
CHM1_12246,690,038 - 46,711,977 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005261678   ⟹   XP_005261735
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,335,714 - 46,357,340 (+)NCBI
GRCh372246,731,298 - 46,753,237 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005261681   ⟹   XP_005261738
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,335,714 - 46,357,340 (+)NCBI
GRCh372246,731,298 - 46,753,237 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530271   ⟹   XP_011528573
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,335,898 - 46,357,340 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530272   ⟹   XP_011528574
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,335,719 - 46,357,340 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530273   ⟹   XP_011528575
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,335,719 - 46,357,340 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530274   ⟹   XP_011528576
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,335,954 - 46,357,340 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530275   ⟹   XP_011528577
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,336,018 - 46,357,340 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452260   ⟹   XP_024308028
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,335,943 - 46,357,340 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755261
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,335,719 - 46,357,340 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755262
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,335,719 - 46,355,585 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001269711 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269712 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269713 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269714 (Get FASTA)   NCBI Sequence Viewer  
  NP_060476 (Get FASTA)   NCBI Sequence Viewer  
  XP_005261735 (Get FASTA)   NCBI Sequence Viewer  
  XP_005261738 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528573 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528574 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528575 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528576 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528577 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308028 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH27991 (Get FASTA)   NCBI Sequence Viewer  
  AAH80631 (Get FASTA)   NCBI Sequence Viewer  
  AAL35970 (Get FASTA)   NCBI Sequence Viewer  
  AAL38183 (Get FASTA)   NCBI Sequence Viewer  
  ABC46690 (Get FASTA)   NCBI Sequence Viewer  
  ABC46691 (Get FASTA)   NCBI Sequence Viewer  
  ABC46692 (Get FASTA)   NCBI Sequence Viewer  
  BAA91462 (Get FASTA)   NCBI Sequence Viewer  
  BAD66875 (Get FASTA)   NCBI Sequence Viewer  
  BAF83401 (Get FASTA)   NCBI Sequence Viewer  
  BAG58183 (Get FASTA)   NCBI Sequence Viewer  
  BAG64147 (Get FASTA)   NCBI Sequence Viewer  
  CAG30331 (Get FASTA)   NCBI Sequence Viewer  
  EAW73422 (Get FASTA)   NCBI Sequence Viewer  
  EAW73423 (Get FASTA)   NCBI Sequence Viewer  
  EAW73424 (Get FASTA)   NCBI Sequence Viewer  
  EAW73425 (Get FASTA)   NCBI Sequence Viewer  
  EAW73426 (Get FASTA)   NCBI Sequence Viewer  
  O75648 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_060476   ⟸   NM_018006
- Peptide Label: isoform a
- UniProtKB: O75648 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005261735   ⟸   XM_005261678
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_005261738   ⟸   XM_005261681
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: NP_001269714   ⟸   NM_001282785
- Peptide Label: isoform g
- UniProtKB: O75648 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269711   ⟸   NM_001282782
- Peptide Label: isoform d
- UniProtKB: Q2PPL5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269712   ⟸   NM_001282783
- Peptide Label: isoform e
- UniProtKB: O75648 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269713   ⟸   NM_001282784
- Peptide Label: isoform f
- UniProtKB: O75648 (UniProtKB/Swiss-Prot),   Q2PPL4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011528574   ⟸   XM_011530272
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011528575   ⟸   XM_011530273
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011528573   ⟸   XM_011530271
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011528577   ⟸   XM_011530275
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011528576   ⟸   XM_011530274
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_024308028   ⟸   XM_024452260
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000398488   ⟸   ENST00000453630
RefSeq Acc Id: ENSP00000393014   ⟸   ENST00000441818
RefSeq Acc Id: ENSP00000413880   ⟸   ENST00000456595
RefSeq Acc Id: ENSP00000407700   ⟸   ENST00000457572
RefSeq Acc Id: ENSP00000494255   ⟸   ENST00000642923
RefSeq Acc Id: ENSP00000494679   ⟸   ENST00000642562
RefSeq Acc Id: ENSP00000495331   ⟸   ENST00000643137
RefSeq Acc Id: ENSP00000493778   ⟸   ENST00000644006
RefSeq Acc Id: ENSP00000496496   ⟸   ENST00000645190
RefSeq Acc Id: ENSP00000370407   ⟸   ENST00000381019
RefSeq Acc Id: ENSP00000370409   ⟸   ENST00000381021
RefSeq Acc Id: ENSP00000496641   ⟸   ENST00000647301

Promoters
RGD ID:6800018
Promoter ID:HG_KWN:43260
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000318368,   OTTHUMT00000318375,   UC003BHN.1,   UC003BHO.2
Position:
Human AssemblyChrPosition (strand)Source
Build 362245,105,696 - 45,106,247 (+)MPROMDB
RGD ID:6799830
Promoter ID:HG_KWN:43261
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_018006,   OTTHUMT00000318369,   OTTHUMT00000318370,   OTTHUMT00000318371,   OTTHUMT00000318372,   UC003BHQ.1,   UC003BHR.1,   UC003BHS.1,   UC003BHT.1,   UC003BHU.1,   UC003BHV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362245,109,101 - 45,111,167 (+)MPROMDB
RGD ID:6800441
Promoter ID:HG_KWN:43263
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000318374
Position:
Human AssemblyChrPosition (strand)Source
Build 362245,126,096 - 45,126,596 (+)MPROMDB
RGD ID:6800439
Promoter ID:HG_KWN:43264
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000318365,   OTTHUMT00000318366,   OTTHUMT00000318367
Position:
Human AssemblyChrPosition (strand)Source
Build 362245,127,416 - 45,130,547 (+)MPROMDB
RGD ID:13604454
Promoter ID:EPDNEW_H28411
Type:initiation region
Name:TRMU_4
Description:tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28412  EPDNEW_H28413  EPDNEW_H28415  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,330,588 - 46,330,648EPDNEW
RGD ID:13604456
Promoter ID:EPDNEW_H28412
Type:initiation region
Name:TRMU_3
Description:tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28411  EPDNEW_H28413  EPDNEW_H28415  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,335,378 - 46,335,438EPDNEW
RGD ID:13604458
Promoter ID:EPDNEW_H28413
Type:initiation region
Name:TRMU_2
Description:tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28411  EPDNEW_H28412  EPDNEW_H28415  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,335,714 - 46,335,774EPDNEW
RGD ID:13604462
Promoter ID:EPDNEW_H28415
Type:initiation region
Name:TRMU_1
Description:tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28411  EPDNEW_H28412  EPDNEW_H28413  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,335,752 - 46,335,812EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NG_012173.1:g.26439C>G single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000023805] Chr22:22q13 pathogenic
TRMU, IVS3AS, G-A, -1 single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000001355] Chr22:22q13 pathogenic
NM_018006.5(TRMU):c.248+9_248+18del deletion Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001277296]|not provided [RCV000728273] Chr22:46337951..46337960 [GRCh38]
Chr22:46733848..46733857 [GRCh37]
Chr22:22q13.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018006.5(TRMU):c.99G>A (p.Gly33=) single nucleotide variant not provided [RCV000728980] Chr22:46337795 [GRCh38]
Chr22:46733692 [GRCh37]
Chr22:22q13.31
conflicting interpretations of pathogenicity|uncertain significance
NM_018006.5(TRMU):c.891C>T (p.His297=) single nucleotide variant not provided [RCV000729087] Chr22:46355461 [GRCh38]
Chr22:46751358 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.952C>T (p.Pro318Ser) single nucleotide variant not provided [RCV000728694] Chr22:46355522 [GRCh38]
Chr22:46751419 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.351T>C (p.Asn117=) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001277298]|not provided [RCV000727972] Chr22:46343364 [GRCh38]
Chr22:46739261 [GRCh37]
Chr22:22q13.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018006.5(TRMU):c.182G>T (p.Cys61Phe) single nucleotide variant not provided [RCV000727988] Chr22:46337878 [GRCh38]
Chr22:46733775 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.270A>G (p.Glu90=) single nucleotide variant not provided [RCV001494196] Chr22:46343283 [GRCh38]
Chr22:46739180 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.835G>A (p.Val279Met) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000023804]|Inborn genetic diseases [RCV000623265]|not provided [RCV000442392] Chr22:46353829 [GRCh38]
Chr22:46749726 [GRCh37]
Chr22:22q13.31
pathogenic|likely pathogenic
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000295210]|Deafness, mitochondrial, modifier of [RCV000001353]|none provided [RCV001282627]|not provided [RCV000676757]|not specified [RCV000173461] Chr22:46335792 [GRCh38]
Chr22:46731689 [GRCh37]
Chr22:22q13.31
risk factor|benign
NM_018006.5(TRMU):c.229T>C (p.Tyr77His) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000001354] Chr22:46337925 [GRCh38]
Chr22:46733822 [GRCh37]
Chr22:22q13.31
pathogenic
NM_018006.5(TRMU):c.815G>A (p.Gly272Asp) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000001356] Chr22:46353809 [GRCh38]
Chr22:46749706 [GRCh37]
Chr22:22q13.31
pathogenic
NM_018006.5(TRMU):c.2T>A (p.Met1Lys) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000001357] Chr22:46335766 [GRCh38]
Chr22:46731663 [GRCh37]
Chr22:22q13.31
pathogenic
GRCh38/hg38 22q13.31(chr22:46183346-46791748)x3 copy number gain See cases [RCV000050316] Chr22:46183346..46791748 [GRCh38]
Chr22:46579243..47187645 [GRCh37]
Chr22:44957907..45566309 [NCBI36]
Chr22:22q13.31
uncertain significance
GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1 copy number loss See cases [RCV000050935] Chr22:45239376..50739836 [GRCh38]
Chr22:45635257..51178264 [GRCh37]
Chr22:44013921..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|See cases [RCV000051370] Chr22:42138114..50739836 [GRCh38]
Chr22:42513525..51178264 [GRCh37]
Chr22:40843471..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1 copy number loss See cases [RCV000051371] Chr22:42433752..50738932 [GRCh38]
Chr22:42829758..51177360 [GRCh37]
Chr22:41159702..49524226 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1 copy number loss See cases [RCV000051407] Chr22:42826246..50739836 [GRCh38]
Chr22:43222252..51178264 [GRCh37]
Chr22:41552196..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1 copy number loss See cases [RCV000051408] Chr22:43807366..50739836 [GRCh38]
Chr22:44203246..51178264 [GRCh37]
Chr22:42534579..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43993654-50739977)x1 copy number loss See cases [RCV000051409] Chr22:43993654..50739977 [GRCh38]
Chr22:44389534..51178405 [GRCh37]
Chr22:42720867..49525271 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1 copy number loss See cases [RCV000051410] Chr22:44740175..50739836 [GRCh38]
Chr22:45136055..51178264 [GRCh37]
Chr22:43514719..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1 copy number loss See cases [RCV000051411] Chr22:45648256..50739836 [GRCh38]
Chr22:46044136..51178264 [GRCh37]
Chr22:44422800..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1 copy number loss See cases [RCV000051098] Chr22:46065705..50739836 [GRCh38]
Chr22:46461585..51178264 [GRCh37]
Chr22:44840249..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3 copy number gain See cases [RCV000051686] Chr22:42599757..50725241 [GRCh38]
Chr22:42995763..51163669 [GRCh37]
Chr22:41325707..49510535 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3 copy number gain See cases [RCV000051687] Chr22:42653747..50739836 [GRCh38]
Chr22:43049753..51178264 [GRCh37]
Chr22:41379697..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|See cases [RCV000051688] Chr22:44700812..50739836 [GRCh38]
Chr22:45096692..51178264 [GRCh37]
Chr22:43475356..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3 copy number gain See cases [RCV000051689] Chr22:44811200..50739836 [GRCh38]
Chr22:45207080..51178264 [GRCh37]
Chr22:43585744..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31(chr22:45954698-47245325)x3 copy number gain See cases [RCV000052891] Chr22:45954698..47245325 [GRCh38]
Chr22:46350578..47641075 [GRCh37]
Chr22:44729242..46019739 [NCBI36]
Chr22:22q13.31
uncertain significance
GRCh38/hg38 22q13.31(chr22:46281772-48028340)x3 copy number gain See cases [RCV000052892] Chr22:46281772..48028340 [GRCh38]
Chr22:46677669..48424155 [GRCh37]
Chr22:45056333..46802819 [NCBI36]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.874-10C>T single nucleotide variant not provided [RCV001494513] Chr22:46355434 [GRCh38]
Chr22:46751331 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.387A>G (p.Ala129=) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000346617]|not provided [RCV000955993]|not specified [RCV000178316] Chr22:46346453 [GRCh38]
Chr22:46742350 [GRCh37]
Chr22:22q13.31
benign|likely benign|uncertain significance
NM_018006.5(TRMU):c.442G>A (p.Glu148Lys) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000402627]|not provided [RCV000676760]|not specified [RCV000125599] Chr22:46346508 [GRCh38]
Chr22:46742405 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_018006.5(TRMU):c.479C>T (p.Ala160Val) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000341568]|none provided [RCV001287055]|not provided [RCV000958255]|not specified [RCV000125600] Chr22:46350291 [GRCh38]
Chr22:46746188 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_018006.5(TRMU):c.552C>T (p.Ala184=) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000396550]|not provided [RCV000676761]|not specified [RCV000125601] Chr22:46350364 [GRCh38]
Chr22:46746261 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_018006.5(TRMU):c.652-16C>T single nucleotide variant none provided [RCV001287070]|not specified [RCV000125602] Chr22:46352105 [GRCh38]
Chr22:46748002 [GRCh37]
Chr22:22q13.31
benign
NM_018006.5(TRMU):c.864C>T (p.Asp288=) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000356541]|none provided [RCV001287056]|not provided [RCV000958271]|not specified [RCV000125603] Chr22:46353858 [GRCh38]
Chr22:46749755 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_018006.5(TRMU):c.900G>T (p.Leu300=) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000276933]|not provided [RCV000884918]|not specified [RCV000125604] Chr22:46355470 [GRCh38]
Chr22:46751367 [GRCh37]
Chr22:22q13.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018006.5(TRMU):c.1176G>A (p.Thr392=) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000344055]|not provided [RCV000676763]|not specified [RCV000125605] Chr22:46356916 [GRCh38]
Chr22:46752813 [GRCh37]
Chr22:22q13.31
benign
NM_018006.5(TRMU):c.1192C>T (p.Arg398Cys) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000285765]|not provided [RCV000755413]|not specified [RCV000125606] Chr22:46356932 [GRCh38]
Chr22:46752829 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_018006.5(TRMU):c.*8G>C single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000404167]|not provided [RCV000676764]|not specified [RCV000125607] Chr22:46357014 [GRCh38]
Chr22:46752911 [GRCh37]
Chr22:22q13.31
benign|uncertain significance
NM_018006.5(TRMU):c.83-19T>C single nucleotide variant not specified [RCV000125608] Chr22:46337760 [GRCh38]
Chr22:46733657 [GRCh37]
Chr22:22q13.31
benign
NM_018006.5(TRMU):c.9C>G (p.Ala3=) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000316646]|not specified [RCV000125609] Chr22:46335773 [GRCh38]
Chr22:46731670 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_018006.5(TRMU):c.10T>G (p.Leu4Val) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000389480]|not specified [RCV000125610] Chr22:46335774 [GRCh38]
Chr22:46731671 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_018006.5(TRMU):c.75G>T (p.Arg25Ser) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000349987]|not provided [RCV000903301]|not specified [RCV000173460] Chr22:46335839 [GRCh38]
Chr22:46731736 [GRCh37]
Chr22:22q13.31
benign|likely benign
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
Single allele deletion Intellectual disability [RCV001293376] Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1 copy number loss See cases [RCV000133865] Chr22:44606363..50739836 [GRCh38]
Chr22:45002243..51178264 [GRCh37]
Chr22:43380907..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
NM_018006.5(TRMU):c.1135G>T (p.Gly379Cys) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000680154]|Inborn genetic diseases [RCV000624682]|not provided [RCV000174140] Chr22:46356875 [GRCh38]
Chr22:46752772 [GRCh37]
Chr22:22q13.31
likely pathogenic|uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1 copy number loss See cases [RCV000135444] Chr22:43902561..50739836 [GRCh38]
Chr22:44298441..51178264 [GRCh37]
Chr22:42629774..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4 copy number gain See cases [RCV000135528] Chr22:42197923..47305564 [GRCh38]
Chr22:42593929..47701314 [GRCh37]
Chr22:40923873..46079978 [NCBI36]
Chr22:22q13.2-13.31
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3 copy number gain See cases [RCV000136573] Chr22:44797239..50739836 [GRCh38]
Chr22:45193119..51178264 [GRCh37]
Chr22:43571783..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3 copy number gain See cases [RCV000136124] Chr22:43992879..50683114 [GRCh38]
Chr22:44388759..51121542 [GRCh37]
Chr22:42720092..49468408 [NCBI36]
Chr22:22q13.31-13.33
benign
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3 copy number gain See cases [RCV000137136] Chr22:42710276..50739836 [GRCh38]
Chr22:43106282..51178264 [GRCh37]
Chr22:41436226..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1 copy number loss See cases [RCV000136894] Chr22:44764289..50739836 [GRCh38]
Chr22:45160169..51178264 [GRCh37]
Chr22:43538833..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1 copy number loss See cases [RCV000136786] Chr22:42493445..50268479 [GRCh38]
Chr22:42889451..50706908 [GRCh37]
Chr22:41219395..49049035 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31(chr22:45445795-47832195)x1 copy number loss See cases [RCV000138217] Chr22:45445795..47832195 [GRCh38]
Chr22:45841676..48227944 [GRCh37]
Chr22:44220340..46606608 [NCBI36]
Chr22:22q13.31
uncertain significance
GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1 copy number loss See cases [RCV000141415] Chr22:42837094..50735806 [GRCh38]
Chr22:43233100..51174234 [GRCh37]
Chr22:41563044..49521100 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1 copy number loss See cases [RCV000140901] Chr22:43187980..50745444 [GRCh38]
Chr22:43583986..51183872 [GRCh37]
Chr22:41913930..49530738 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3 copy number gain See cases [RCV000141659] Chr22:42380961..50759410 [GRCh38]
Chr22:42776967..51197838 [GRCh37]
Chr22:41106911..49544704 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 copy number gain See cases [RCV000142755] Chr22:42080077..50739836 [GRCh38]
Chr22:42476081..51178264 [GRCh37]
Chr22:40806027..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31(chr22:44832749-46353315)x3 copy number gain See cases [RCV000143486] Chr22:44832749..46353315 [GRCh38]
Chr22:45228629..46749212 [GRCh37]
Chr22:43607293..45127876 [NCBI36]
Chr22:22q13.31
uncertain significance
GRCh38/hg38 22q13.31(chr22:46271847-46482065)x1 copy number loss See cases [RCV000143567] Chr22:46271847..46482065 [GRCh38]
Chr22:46667744..46877962 [GRCh37]
Chr22:45046408..45256626 [NCBI36]
Chr22:22q13.31
uncertain significance
GRCh38/hg38 22q13.31(chr22:46183346-46791748)x3 copy number gain See cases [RCV000148265] Chr22:46183346..46791748 [GRCh38]
Chr22:46579243..47187645 [GRCh37]
Chr22:44957907..45566309 [NCBI36]
Chr22:22q13.31
uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759) copy number loss not provided [RCV000767746] Chr22:45075720..51181759 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
NM_018006.5(TRMU):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV000402876] Chr22:46335766 [GRCh38]
Chr22:46731663 [GRCh37]
Chr22:22q13.31
pathogenic
NM_018006.5(TRMU):c.1007A>C (p.Gln336Pro) single nucleotide variant Long QT syndrome [RCV000190206] Chr22:46355577 [GRCh38]
Chr22:46751474 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.718C>T (p.Arg240Ter) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001273736]|not provided [RCV000200369] Chr22:46352276 [GRCh38]
Chr22:46748173 [GRCh37]
Chr22:22q13.31
pathogenic
NM_018006.5(TRMU):c.1106C>T (p.Ala369Val) single nucleotide variant not provided [RCV000200577] Chr22:46356846 [GRCh38]
Chr22:46752743 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.1125C>A (p.Asp375Glu) single nucleotide variant not specified [RCV000196726] Chr22:46356865 [GRCh38]
Chr22:46752762 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.773-12_773-9del deletion Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001274267]|not specified [RCV000200786] Chr22:46353753..46353756 [GRCh38]
Chr22:46749650..46749653 [GRCh37]
Chr22:22q13.31
likely pathogenic|uncertain significance
NM_018006.5(TRMU):c.118G>C (p.Asp40His) single nucleotide variant not provided [RCV000196998] Chr22:46337814 [GRCh38]
Chr22:46733711 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.954dup (p.Ala319fs) duplication Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000578236]|not provided [RCV000197202] Chr22:46355521..46355522 [GRCh38]
Chr22:46751418..46751419 [GRCh37]
Chr22:22q13.31
pathogenic
NM_018006.5(TRMU):c.968G>A (p.Arg323Gln) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001147600]|not provided [RCV000728804] Chr22:46355538 [GRCh38]
Chr22:46751435 [GRCh37]
Chr22:22q13.31
likely benign|uncertain significance
NM_018006.5(TRMU):c.758T>C (p.Leu253Pro) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000196798] Chr22:46352316 [GRCh38]
Chr22:46748213 [GRCh37]
Chr22:22q13.31
likely pathogenic
NM_018006.5(TRMU):c.538G>T (p.Val180Phe) single nucleotide variant not provided [RCV000198478] Chr22:46350350 [GRCh38]
Chr22:46746247 [GRCh37]
Chr22:22q13.31
likely pathogenic
NM_018006.5(TRMU):c.1246G>T (p.Gly416Cys) single nucleotide variant not specified [RCV000198613] Chr22:46356986 [GRCh38]
Chr22:46752883 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.941C>T (p.Ala314Val) single nucleotide variant not provided [RCV000198688] Chr22:46355511 [GRCh38]
Chr22:46751408 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.2T>G (p.Met1Arg) single nucleotide variant not provided [RCV000198888] Chr22:46335766 [GRCh38]
Chr22:46731663 [GRCh37]
Chr22:22q13.31
pathogenic
NM_018006.5(TRMU):c.469G>A (p.Val157Ile) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001144726]|not specified [RCV000195844] Chr22:46346535 [GRCh38]
Chr22:46742432 [GRCh37]
Chr22:22q13.31
likely benign|uncertain significance
NM_018006.5(TRMU):c.1093A>C (p.Thr365Pro) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001150925]|not specified [RCV000199623] Chr22:46356064 [GRCh38]
Chr22:46751961 [GRCh37]
Chr22:22q13.31
likely benign|uncertain significance
NM_018006.5(TRMU):c.925C>T (p.Arg309Cys) single nucleotide variant not provided [RCV000734199] Chr22:46355495 [GRCh38]
Chr22:46751392 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.238G>A (p.Asp80Asn) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001150844]|not provided [RCV000892974]|not specified [RCV000199813] Chr22:46337934 [GRCh38]
Chr22:46733831 [GRCh37]
Chr22:22q13.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018006.5(TRMU):c.272A>G (p.Lys91Arg) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000291761]|not provided [RCV000923546]|not specified [RCV000196270] Chr22:46343285 [GRCh38]
Chr22:46739182 [GRCh37]
Chr22:22q13.31
benign|likely benign|uncertain significance
NM_018006.5(TRMU):c.430G>A (p.Val144Ile) single nucleotide variant not specified [RCV000200100] Chr22:46346496 [GRCh38]
Chr22:46742393 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.814G>A (p.Gly272Ser) single nucleotide variant not provided [RCV000756815] Chr22:46353808 [GRCh38]
Chr22:46749705 [GRCh37]
Chr22:22q13.31
uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:46316673-50357320)x1 copy number loss See cases [RCV000239941] Chr22:46316673..50357320 [GRCh37]
Chr22:22q13.31-13.33
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
NM_018006.5(TRMU):c.853G>A (p.Val285Ile) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000301742]|not provided [RCV000597427] Chr22:46353847 [GRCh38]
Chr22:46749744 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.4(TRMU):c.-113G>C single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000304928] Chr22:46335652 [GRCh38]
Chr22:46731549 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.952C>G (p.Pro318Ala) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000273861]|not provided [RCV000733461] Chr22:46355522 [GRCh38]
Chr22:46751419 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.4(TRMU):c.-117G>C single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000268531]|not provided [RCV000830903] Chr22:46335648 [GRCh38]
Chr22:46731545 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_018006.5(TRMU):c.146C>T (p.Thr49Ile) single nucleotide variant not provided [RCV000303183] Chr22:46337842 [GRCh38]
Chr22:46733739 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.772+8G>A single nucleotide variant not provided [RCV000725833]|not specified [RCV000371305] Chr22:46352338 [GRCh38]
Chr22:46748235 [GRCh37]
Chr22:22q13.31
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000271191]|not provided [RCV001594977] Chr22:46357282 [GRCh38]
Chr22:46753179 [GRCh37]
Chr22:22q13.31
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000359794]|not provided [RCV001590996] Chr22:46335678 [GRCh38]
Chr22:46731575 [GRCh37]
Chr22:22q13.31
likely benign|uncertain significance
NM_018006.5(TRMU):c.-35G>A single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000319954] Chr22:46335730 [GRCh38]
Chr22:46731627 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.*266_*267AG[1] microsatellite Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000368090] Chr22:46357272..46357273 [GRCh38]
Chr22:46753169..46753170 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.289C>T (p.Pro97Ser) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001332216]|not provided [RCV000346348] Chr22:46343302 [GRCh38]
Chr22:46739199 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.865G>A (p.Val289Met) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000261631] Chr22:46353859 [GRCh38]
Chr22:46749756 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000282219]|not provided [RCV001683364] Chr22:46357049 [GRCh38]
Chr22:46752946 [GRCh37]
Chr22:22q13.31
benign
NM_018006.5(TRMU):c.*149G>A single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000371120] Chr22:46357155 [GRCh38]
Chr22:46753052 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.461G>A (p.Arg154Gln) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000307081]|not provided [RCV000593850] Chr22:46346527 [GRCh38]
Chr22:46742424 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.4(TRMU):c.-147C>A single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000307429] Chr22:46335618 [GRCh38]
Chr22:46731515 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.4(TRMU):c.-279G>A single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000351468] Chr22:46335486 [GRCh38]
Chr22:46731383 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.1018+9C>T single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000328968]|not provided [RCV000841374] Chr22:46355597 [GRCh38]
Chr22:46751494 [GRCh37]
Chr22:22q13.31
likely benign|uncertain significance
NM_018006.5(TRMU):c.1188C>G (p.Gly396=) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000379952]|not provided [RCV000928706] Chr22:46356928 [GRCh38]
Chr22:46752825 [GRCh37]
Chr22:22q13.31
likely benign|uncertain significance
NM_018006.4(TRMU):c.-312G>A single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000403120] Chr22:46335453 [GRCh38]
Chr22:46731350 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.1164G>A (p.Pro388=) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000289123]|not provided [RCV000930590]|not specified [RCV000600160] Chr22:46356904 [GRCh38]
Chr22:46752801 [GRCh37]
Chr22:22q13.31
likely benign|uncertain significance
NM_018006.5(TRMU):c.927C>T (p.Arg309=) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000332386]|none provided [RCV001287057]|not provided [RCV000676762] Chr22:46355497 [GRCh38]
Chr22:46751394 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_018006.5(TRMU):c.1158G>A (p.Leu386=) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000383270]|not provided [RCV000913102]|not specified [RCV000731734] Chr22:46356898 [GRCh38]
Chr22:46752795 [GRCh37]
Chr22:22q13.31
benign|likely benign|uncertain significance
NM_018006.4(TRMU):c.-178G>A single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000311071]|not provided [RCV000830902] Chr22:46335587 [GRCh38]
Chr22:46731484 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_018006.5(TRMU):c.*210G>C single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000311150]|not provided [RCV001558912] Chr22:46357216 [GRCh38]
Chr22:46753113 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_018006.5(TRMU):c.941C>G (p.Ala314Gly) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000386901] Chr22:46355511 [GRCh38]
Chr22:46751408 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.*51C>T single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000337366] Chr22:46357057 [GRCh38]
Chr22:46752954 [GRCh37]
Chr22:22q13.31
likely benign|uncertain significance
NM_018006.5(TRMU):c.750T>A (p.Asn250Lys) single nucleotide variant not provided [RCV000360260] Chr22:46352308 [GRCh38]
Chr22:46748205 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.4(TRMU):c.-281G>A single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000296555] Chr22:46335484 [GRCh38]
Chr22:46731381 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.4(TRMU):c.-190A>T single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000394619] Chr22:46335575 [GRCh38]
Chr22:46731472 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.*113G>A single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000396397] Chr22:46357119 [GRCh38]
Chr22:46753016 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_000182.5(HADHA):c.68-10T>G single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000396403]|not provided [RCV001712074] Chr22:46357157 [GRCh38]
Chr22:46753054 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_018006.5(TRMU):c.82+3G>A single nucleotide variant not provided [RCV000326414] Chr22:46335849 [GRCh38]
Chr22:46731746 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.-15T>C single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000261451]|not specified [RCV000604395] Chr22:46335750 [GRCh38]
Chr22:46731647 [GRCh37]
Chr22:22q13.31
likely benign|uncertain significance
NM_018006.5(TRMU):c.*124G>C single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000297669]|not provided [RCV001551199] Chr22:46357130 [GRCh38]
Chr22:46753027 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_018006.5(TRMU):c.873+11C>T single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000298121] Chr22:46353878 [GRCh38]
Chr22:46749775 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.4(TRMU):c.-128A>G single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000362177]|not provided [RCV001570106] Chr22:46335637 [GRCh38]
Chr22:46731534 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.-44G>A single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000265076]|not specified [RCV000604435] Chr22:46335721 [GRCh38]
Chr22:46731618 [GRCh37]
Chr22:22q13.31
benign|likely benign|uncertain significance
NM_018006.5(TRMU):c.296T>C (p.Ile99Thr) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001277297]|not provided [RCV000367714] Chr22:46343309 [GRCh38]
Chr22:46739206 [GRCh37]
Chr22:22q13.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018006.5(TRMU):c.1218C>T (p.Ser406=) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000340768]|not provided [RCV000733382] Chr22:46356958 [GRCh38]
Chr22:46752855 [GRCh37]
Chr22:22q13.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018006.5(TRMU):c.879C>T (p.Pro293=) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000352898]|not provided [RCV000732857] Chr22:46355449 [GRCh38]
Chr22:46751346 [GRCh37]
Chr22:22q13.31
conflicting interpretations of pathogenicity|uncertain significance
NM_018006.5(TRMU):c.1102-3C>G single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001274268]|not provided [RCV000489397] Chr22:46356839 [GRCh38]
Chr22:46752736 [GRCh37]
Chr22:22q13.31
likely pathogenic
NM_018006.5(TRMU):c.624A>T (p.Arg208Ser) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001278848] Chr22:46350436 [GRCh38]
Chr22:46746333 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.199C>T (p.Pro67Ser) single nucleotide variant not provided [RCV000729649] Chr22:46337895 [GRCh38]
Chr22:46733792 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.954C>T (p.Pro318=) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001147599]|not provided [RCV000594289] Chr22:46355524 [GRCh38]
Chr22:46751421 [GRCh37]
Chr22:22q13.31
conflicting interpretations of pathogenicity|uncertain significance
NM_018006.5(TRMU):c.82+5G>C single nucleotide variant not provided [RCV000489852] Chr22:46335851 [GRCh38]
Chr22:46731748 [GRCh37]
Chr22:22q13.31
likely pathogenic
NM_018006.5(TRMU):c.215C>T (p.Ser72Phe) single nucleotide variant not provided [RCV000488925] Chr22:46337911 [GRCh38]
Chr22:46733808 [GRCh37]
Chr22:22q13.31
likely pathogenic
NM_018006.4(TRMU):c.-161A>C single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000365716] Chr22:46335604 [GRCh38]
Chr22:46731501 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.271A>G (p.Lys91Glu) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000385925] Chr22:46343284 [GRCh38]
Chr22:46739181 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.124C>A (p.Leu42Met) single nucleotide variant not provided [RCV000597348] Chr22:46337820 [GRCh38]
Chr22:46733717 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.772+11G>C single nucleotide variant not specified [RCV000604970] Chr22:46352341 [GRCh38]
Chr22:46748238 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.-19G>C single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000374623]|not specified [RCV000615506] Chr22:46335746 [GRCh38]
Chr22:46731643 [GRCh37]
Chr22:22q13.31
likely benign|uncertain significance
NM_018006.4(TRMU):c.-151G>A single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000394611] Chr22:46335614 [GRCh38]
Chr22:46731511 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.844A>G (p.Lys282Glu) single nucleotide variant not specified [RCV001169907] Chr22:46353838 [GRCh38]
Chr22:46749735 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.172T>C (p.Tyr58His) single nucleotide variant not provided [RCV000592455] Chr22:46337868 [GRCh38]
Chr22:46733765 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.1131C>G (p.Cys377Trp) single nucleotide variant not provided [RCV000593247] Chr22:46356871 [GRCh38]
Chr22:46752768 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.740T>C (p.Ile247Thr) single nucleotide variant not provided [RCV000730325] Chr22:46352298 [GRCh38]
Chr22:46748195 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.18C>T (p.His6=) single nucleotide variant not provided [RCV000730327] Chr22:46335782 [GRCh38]
Chr22:46731679 [GRCh37]
Chr22:22q13.31
conflicting interpretations of pathogenicity|uncertain significance
NM_018006.5(TRMU):c.1123G>A (p.Asp375Asn) single nucleotide variant not provided [RCV000593301] Chr22:46356863 [GRCh38]
Chr22:46752760 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.552C>A (p.Ala184=) single nucleotide variant not provided [RCV000598482] Chr22:46350364 [GRCh38]
Chr22:46746261 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.83-4G>A single nucleotide variant not provided [RCV000593728] Chr22:46337775 [GRCh38]
Chr22:46733672 [GRCh37]
Chr22:22q13.31
conflicting interpretations of pathogenicity|uncertain significance
NM_018006.5(TRMU):c.527T>G (p.Phe176Cys) single nucleotide variant not provided [RCV000591600] Chr22:46350339 [GRCh38]
Chr22:46746236 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.479-3C>T single nucleotide variant not provided [RCV000592103] Chr22:46350288 [GRCh38]
Chr22:46746185 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.30C>T (p.Ala10=) single nucleotide variant not provided [RCV000732015] Chr22:46335794 [GRCh38]
Chr22:46731691 [GRCh37]
Chr22:22q13.31
conflicting interpretations of pathogenicity|uncertain significance
NM_018006.5(TRMU):c.191T>C (p.Leu64Ser) single nucleotide variant not provided [RCV000732138] Chr22:46337887 [GRCh38]
Chr22:46733784 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.1101+5G>A single nucleotide variant not provided [RCV000734371] Chr22:46356077 [GRCh38]
Chr22:46751974 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.705+10del deletion not provided [RCV000730281] Chr22:46352184 [GRCh38]
Chr22:46748081 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.333dup (p.His112fs) duplication not provided [RCV000733251] Chr22:46343340..46343341 [GRCh38]
Chr22:46739237..46739238 [GRCh37]
Chr22:22q13.31
pathogenic
NM_018006.5(TRMU):c.995G>A (p.Arg332Gln) single nucleotide variant not provided [RCV000730439] Chr22:46355565 [GRCh38]
Chr22:46751462 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.802G>A (p.Ala268Thr) single nucleotide variant not provided [RCV000733984] Chr22:46353796 [GRCh38]
Chr22:46749693 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.422A>G (p.Gln141Arg) single nucleotide variant not provided [RCV000733305] Chr22:46346488 [GRCh38]
Chr22:46742385 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.102G>A (p.Val34=) single nucleotide variant not provided [RCV000732521] Chr22:46337798 [GRCh38]
Chr22:46733695 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.928G>A (p.Val310Met) single nucleotide variant not provided [RCV000732746] Chr22:46355498 [GRCh38]
Chr22:46751395 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.655A>G (p.Met219Val) single nucleotide variant not provided [RCV000734192] Chr22:46352124 [GRCh38]
Chr22:46748021 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.549T>G (p.Asp183Glu) single nucleotide variant not provided [RCV000734214] Chr22:46350361 [GRCh38]
Chr22:46746258 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.-9G>A single nucleotide variant not provided [RCV000732792] Chr22:46335756 [GRCh38]
Chr22:46731653 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.1154G>A (p.Arg385Gln) single nucleotide variant not provided [RCV000732859]|not specified [RCV001169908] Chr22:46356894 [GRCh38]
Chr22:46752791 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.874-26_874-5dup duplication not provided [RCV000731725] Chr22:46355416..46355417 [GRCh38]
Chr22:46751313..46751314 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.918G>C (p.Arg306Ser) single nucleotide variant not provided [RCV000731737] Chr22:46355488 [GRCh38]
Chr22:46751385 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.651+5G>A single nucleotide variant not provided [RCV000730835] Chr22:46350468 [GRCh38]
Chr22:46746365 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.705+4C>T single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001144727]|not provided [RCV000731837] Chr22:46352178 [GRCh38]
Chr22:46748075 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.705+5G>A single nucleotide variant not provided [RCV000730896] Chr22:46352179 [GRCh38]
Chr22:46748076 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.74G>A (p.Arg25Lys) single nucleotide variant not provided [RCV000729340] Chr22:46335838 [GRCh38]
Chr22:46731735 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.1214A>C (p.Glu405Ala) single nucleotide variant not provided [RCV000734956] Chr22:46356954 [GRCh38]
Chr22:46752851 [GRCh37]
Chr22:22q13.31
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_018006.5(TRMU):c.-36C>G single nucleotide variant not specified [RCV000417651] Chr22:46335729 [GRCh38]
Chr22:46731626 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.1193G>A (p.Arg398His) single nucleotide variant not specified [RCV000418028] Chr22:46356933 [GRCh38]
Chr22:46752830 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.248+19A>C single nucleotide variant not specified [RCV000438549] Chr22:46337963 [GRCh38]
Chr22:46733860 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.567C>G (p.Ile189Met) single nucleotide variant not provided [RCV000891993]|not specified [RCV000435446] Chr22:46350379 [GRCh38]
Chr22:46746276 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_018006.5(TRMU):c.246C>G (p.Phe82Leu) single nucleotide variant not provided [RCV000424646] Chr22:46337942 [GRCh38]
Chr22:46733839 [GRCh37]
Chr22:22q13.31
likely pathogenic
NM_018006.5(TRMU):c.873+12G>A single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001146694]|not specified [RCV000425395] Chr22:46353879 [GRCh38]
Chr22:46749776 [GRCh37]
Chr22:22q13.31
likely benign|uncertain significance
NM_018006.5(TRMU):c.83-11C>A single nucleotide variant not specified [RCV000440257] Chr22:46337768 [GRCh38]
Chr22:46733665 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.429C>T (p.His143=) single nucleotide variant not provided [RCV000730535]|not specified [RCV000433402] Chr22:46346495 [GRCh38]
Chr22:46742392 [GRCh37]
Chr22:22q13.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018006.5(TRMU):c.942G>A (p.Ala314=) single nucleotide variant not specified [RCV000437282] Chr22:46355512 [GRCh38]
Chr22:46751409 [GRCh37]
Chr22:22q13.31
likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_018006.5(TRMU):c.522CTT[1] (p.Phe176del) microsatellite not provided [RCV000482741] Chr22:46350334..46350336 [GRCh38]
Chr22:46746231..46746233 [GRCh37]
Chr22:22q13.31
likely pathogenic
NM_018006.5(TRMU):c.304A>G (p.Asn102Asp) single nucleotide variant not provided [RCV000482789] Chr22:46343317 [GRCh38]
Chr22:46739214 [GRCh37]
Chr22:22q13.31
likely pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1 copy number loss See cases [RCV000512121] Chr22:43381459..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_018006.5(TRMU):c.880C>T (p.Arg294Trp) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000509329] Chr22:46355450 [GRCh38]
Chr22:46751347 [GRCh37]
Chr22:22q13.31
not provided
GRCh37/hg19 22q13.31-13.33(chr22:46543160-51197838)x1 copy number loss See cases [RCV000510351] Chr22:46543160..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1 copy number loss See cases [RCV000511015] Chr22:43875989..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1 copy number loss See cases [RCV000511220] Chr22:45261208..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1 copy number loss See cases [RCV000511256] Chr22:43050743..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 copy number loss See cases [RCV000510765] Chr22:42441918..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
Single allele duplication not specified [RCV000598094] Chr22:46731698..46731709 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.1053C>T (p.Thr351=) single nucleotide variant not provided [RCV000942601] Chr22:46356024 [GRCh38]
Chr22:46751921 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.651+9G>A single nucleotide variant not provided [RCV000594580] Chr22:46350472 [GRCh38]
Chr22:46746369 [GRCh37]
Chr22:22q13.31
conflicting interpretations of pathogenicity|uncertain significance
NM_018006.5(TRMU):c.768T>C (p.His256=) single nucleotide variant not provided [RCV001400451]|not specified [RCV000612492] Chr22:46352326 [GRCh38]
Chr22:46748223 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.479-10T>C single nucleotide variant not provided [RCV000941061]|not specified [RCV000615395] Chr22:46350281 [GRCh38]
Chr22:46746178 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.671T>G (p.Ile224Ser) single nucleotide variant Inborn genetic diseases [RCV000622398] Chr22:46352140 [GRCh38]
Chr22:46748037 [GRCh37]
Chr22:22q13.31
likely pathogenic
NM_018006.5(TRMU):c.1062G>A (p.Val354=) single nucleotide variant not provided [RCV001412218] Chr22:46356033 [GRCh38]
Chr22:46751930 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.576G>C (p.Leu192=) single nucleotide variant not provided [RCV000975583]|not specified [RCV000608998] Chr22:46350388 [GRCh38]
Chr22:46746285 [GRCh37]
Chr22:22q13.31
likely benign
GRCh37/hg19 22q13.31(chr22:46189128-46998144)x3 copy number gain See cases [RCV000512253] Chr22:46189128..46998144 [GRCh37]
Chr22:22q13.31
uncertain significance
GRCh37/hg19 22q13.31-13.32(chr22:46406694-48524541)x1 copy number loss See cases [RCV000512399] Chr22:46406694..48524541 [GRCh37]
Chr22:22q13.31-13.32
uncertain significance
NM_018006.5(TRMU):c.579G>T (p.Gly193=) single nucleotide variant not provided [RCV000596542] Chr22:46350391 [GRCh38]
Chr22:46746288 [GRCh37]
Chr22:22q13.31
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_018006.5(TRMU):c.40G>A (p.Gly14Ser) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000673121] Chr22:46335804 [GRCh38]
Chr22:46731701 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.497C>A (p.Ala166Glu) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000680132] Chr22:46350309 [GRCh38]
Chr22:46746206 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.9_10delinsGG (p.Leu4Val) indel not provided [RCV000676756] Chr22:46335773..46335774 [GRCh38]
Chr22:46731670..46731671 [GRCh37]
Chr22:22q13.31
benign
NM_018006.5(TRMU):c.60C>A (p.Ala20=) single nucleotide variant not provided [RCV000676759] Chr22:46335824 [GRCh38]
Chr22:46731721 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.880del (p.Arg294fs) deletion Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000674989] Chr22:46355445 [GRCh38]
Chr22:46751342 [GRCh37]
Chr22:22q13.31
likely pathogenic
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) duplication Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000667762]|not provided [RCV000734954] Chr22:46356036..46356037 [GRCh38]
Chr22:46751933..46751934 [GRCh37]
Chr22:22q13.31
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:46667744-51183840)x1 copy number loss not provided [RCV000684524] Chr22:46667744..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1 copy number loss not provided [RCV000684525] Chr22:45994305..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1 copy number loss not provided [RCV000684526] Chr22:44789956..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1 copy number loss not provided [RCV000684527] Chr22:43320284..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1 copy number loss not provided [RCV000684528] Chr22:43111156..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1 copy number loss not provided [RCV000684529] Chr22:42955616..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_018006.5(TRMU):c.248+54G>C single nucleotide variant not provided [RCV001564072] Chr22:46337998 [GRCh38]
Chr22:46733895 [GRCh37]
Chr22:22q13.31
likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001583243] Chr22:46351911 [GRCh38]
Chr22:46747808 [GRCh37]
Chr22:22q13.31
likely benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001584785] Chr22:46355145 [GRCh38]
Chr22:46751042 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.264G>A (p.Glu88=) single nucleotide variant not provided [RCV000979491] Chr22:46343277 [GRCh38]
Chr22:46739174 [GRCh37]
Chr22:22q13.31
likely benign
NM_001943.5(DSG2):c.1299T>C (p.Asp433=) microsatellite not provided [RCV001708070] Chr22:46356688..46356690 [GRCh38]
Chr22:46752585..46752587 [GRCh37]
Chr22:22q13.31
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001584030] Chr22:46335872 [GRCh38]
Chr22:46731769 [GRCh37]
Chr22:22q13.31
likely benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001645934] Chr22:46352240 [GRCh38]
Chr22:46748137 [GRCh37]
Chr22:22q13.31
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001583592] Chr22:46351905 [GRCh38]
Chr22:46747802 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.82+8G>A single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001277294]|not provided [RCV000944581] Chr22:46335854 [GRCh38]
Chr22:46731751 [GRCh37]
Chr22:22q13.31
likely benign|uncertain significance
NM_018006.5(TRMU):c.1152G>A (p.Leu384=) single nucleotide variant not provided [RCV000981989] Chr22:46356892 [GRCh38]
Chr22:46752789 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.1035C>T (p.Thr345=) single nucleotide variant not provided [RCV000944998] Chr22:46356006 [GRCh38]
Chr22:46751903 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.1137C>T (p.Gly379=) single nucleotide variant not provided [RCV000975706] Chr22:46356877 [GRCh38]
Chr22:46752774 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.82+10C>T single nucleotide variant not provided [RCV000944102] Chr22:46335856 [GRCh38]
Chr22:46731753 [GRCh37]
Chr22:22q13.31
likely benign
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
NC_000022.11:g.(?_46335391)_(46335856_?)del deletion not provided [RCV001031876] Chr22:46731288..46731753 [GRCh37]
Chr22:22q13.31
pathogenic
NM_018006.5(TRMU):c.653G>T (p.Ser218Ile) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000995908] Chr22:46352122 [GRCh38]
Chr22:46748019 [GRCh37]
Chr22:22q13.31
likely pathogenic
NM_018006.5(TRMU):c.96_97del (p.Phe35fs) deletion Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV000778667]|not provided [RCV001070618] Chr22:46337792..46337793 [GRCh38]
Chr22:46733689..46733690 [GRCh37]
Chr22:22q13.31
pathogenic|uncertain significance
NM_018006.5(TRMU):c.355+7A>G single nucleotide variant not provided [RCV000930758] Chr22:46343375 [GRCh38]
Chr22:46739272 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.1227C>T (p.Asp409=) single nucleotide variant not provided [RCV000979530] Chr22:46356967 [GRCh38]
Chr22:46752864 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.834C>T (p.Tyr278=) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001277299]|not provided [RCV000981119] Chr22:46353828 [GRCh38]
Chr22:46749725 [GRCh37]
Chr22:22q13.31
likely benign|uncertain significance
NM_018006.5(TRMU):c.39C>G (p.Gly13=) single nucleotide variant not provided [RCV000983241] Chr22:46335803 [GRCh38]
Chr22:46731700 [GRCh37]
Chr22:22q13.31
likely benign
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) copy number loss 22q13.3 deletion syndrome [RCV000767745] Chr22:42416026..51181759 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_018006.5(TRMU):c.1018+7G>C single nucleotide variant not provided [RCV000937171] Chr22:46355595 [GRCh38]
Chr22:46751492 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.490del (p.Leu164fs) deletion not provided [RCV000793203] Chr22:46350301 [GRCh38]
Chr22:46746198 [GRCh37]
Chr22:22q13.31
pathogenic
NM_018006.5(TRMU):c.478+1G>A single nucleotide variant not provided [RCV000796824] Chr22:46346545 [GRCh38]
Chr22:46742442 [GRCh37]
Chr22:22q13.31
likely pathogenic
NM_018006.5(TRMU):c.-26A>C single nucleotide variant not provided [RCV000838306] Chr22:46335739 [GRCh38]
Chr22:46731636 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.249-208G>A single nucleotide variant not provided [RCV000844482] Chr22:46343054 [GRCh38]
Chr22:46738951 [GRCh37]
Chr22:22q13.31
benign
NM_018006.5(TRMU):c.478+235G>A single nucleotide variant not provided [RCV000844483] Chr22:46346779 [GRCh38]
Chr22:46742676 [GRCh37]
Chr22:22q13.31
benign
NM_018006.5(TRMU):c.772+217G>A single nucleotide variant not provided [RCV000844484] Chr22:46352547 [GRCh38]
Chr22:46748444 [GRCh37]
Chr22:22q13.31
benign
NM_018006.5(TRMU):c.873+244A>G single nucleotide variant not provided [RCV000844485] Chr22:46354111 [GRCh38]
Chr22:46750008 [GRCh37]
Chr22:22q13.31
benign
NM_018006.5(TRMU):c.1019-158C>T single nucleotide variant not provided [RCV000844490] Chr22:46355832 [GRCh38]
Chr22:46751729 [GRCh37]
Chr22:22q13.31
benign
NM_018006.5(TRMU):c.772+83T>C single nucleotide variant not provided [RCV000830904] Chr22:46352413 [GRCh38]
Chr22:46748310 [GRCh37]
Chr22:22q13.31
benign
NC_000022.11:g.46355597C>T single nucleotide variant not provided [RCV000841374] Chr22:46751494 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.902A>G (p.Tyr301Cys) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001146695] Chr22:46355472 [GRCh38]
Chr22:46751369 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.1142G>A (p.Gly381Glu) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001150926] Chr22:46356882 [GRCh38]
Chr22:46752779 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.772+106A>C single nucleotide variant not provided [RCV000836232] Chr22:46352436 [GRCh38]
Chr22:46748333 [GRCh37]
Chr22:22q13.31
benign
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_018006.5(TRMU):c.910C>G (p.Leu304Val) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001147598]|not provided [RCV000941882] Chr22:46355480 [GRCh38]
Chr22:46751377 [GRCh37]
Chr22:22q13.31
benign|likely benign
NM_018006.5(TRMU):c.-25G>A single nucleotide variant not provided [RCV000840740] Chr22:46335740 [GRCh38]
Chr22:46731637 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.82+244A>G single nucleotide variant not provided [RCV000844480] Chr22:46336090 [GRCh38]
Chr22:46731987 [GRCh37]
Chr22:22q13.31
benign
NM_018006.5(TRMU):c.651+8T>C single nucleotide variant not provided [RCV000897853] Chr22:46350471 [GRCh38]
Chr22:46746368 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.772+143G>A single nucleotide variant not provided [RCV000834952] Chr22:46352473 [GRCh38]
Chr22:46748370 [GRCh37]
Chr22:22q13.31
benign
NM_018006.5(TRMU):c.83-2A>G single nucleotide variant not provided [RCV000812452] Chr22:46337777 [GRCh38]
Chr22:46733674 [GRCh37]
Chr22:22q13.31
likely pathogenic
NM_018006.5(TRMU):c.1101+111G>C single nucleotide variant not provided [RCV000835868] Chr22:46356183 [GRCh38]
Chr22:46752080 [GRCh37]
Chr22:22q13.31
benign
NM_018006.5(TRMU):c.1163C>T (p.Pro388Leu) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001150927] Chr22:46356903 [GRCh38]
Chr22:46752800 [GRCh37]
Chr22:22q13.31
uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:46432744-51197838)x3 copy number gain not provided [RCV000849204] Chr22:46432744..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
NM_018006.5(TRMU):c.417del (p.Phe139fs) deletion not provided [RCV001231997] Chr22:46346481 [GRCh38]
Chr22:46742378 [GRCh37]
Chr22:22q13.31
pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001250083] Chr22:46352149 [GRCh38]
Chr22:46748046 [GRCh37]
Chr22:22q13.31
likely pathogenic
NM_018006.5(TRMU):c.355+2T>C single nucleotide variant not provided [RCV001210347] Chr22:46343370 [GRCh38]
Chr22:46739267 [GRCh37]
Chr22:22q13.31
likely pathogenic
NM_018006.5(TRMU):c.994C>T (p.Arg332Ter) single nucleotide variant not provided [RCV001213660] Chr22:46355564 [GRCh38]
Chr22:46751461 [GRCh37]
Chr22:22q13.31
pathogenic
NM_018006.5(TRMU):c.175A>G (p.Arg59Gly) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001150843] Chr22:46337871 [GRCh38]
Chr22:46733768 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.772+254T>C single nucleotide variant not provided [RCV001553070] Chr22:46352584 [GRCh38]
Chr22:46748481 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.874-129C>T single nucleotide variant not provided [RCV001576302] Chr22:46355315 [GRCh38]
Chr22:46751212 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.249-95G>A single nucleotide variant not provided [RCV001561137] Chr22:46343167 [GRCh38]
Chr22:46739064 [GRCh37]
Chr22:22q13.31
likely benign
null single nucleotide variant not provided [RCV001725578] Chr22:46355331 [GRCh38]
Chr22:46751228 [GRCh37]
benign
NM_018006.5(TRMU):c.673G>A (p.Gly225Arg) single nucleotide variant not provided [RCV001556582] Chr22:46352142 [GRCh38]
Chr22:46748039 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, single nucleotide variant not provided [RCV001639485] Chr22:46338137 [GRCh38]
Chr22:46734034 [GRCh37]
Chr22:22q13.31
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001649897] Chr22:46335976 [GRCh38]
Chr22:46731873 [GRCh37]
Chr22:22q13.31
benign
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, single nucleotide variant not provided [RCV001639821] Chr22:46335127 [GRCh38]
Chr22:46731024 [GRCh37]
Chr22:22q13.31
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) duplication not provided [RCV001682482] Chr22:46335867..46335868 [GRCh38]
Chr22:46731764..46731765 [GRCh37]
Chr22:22q13.31
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del duplication not provided [RCV001713996] Chr22:46350096..46350097 [GRCh38]
Chr22:46745993..46745994 [GRCh37]
Chr22:22q13.31
benign
NM_018006.5(TRMU):c.248+9G>A single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001273735]|not provided [RCV000929574] Chr22:46337953 [GRCh38]
Chr22:46733850 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.633T>C (p.His211=) single nucleotide variant not provided [RCV000978011] Chr22:46350445 [GRCh38]
Chr22:46746342 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.672C>T (p.Ile224=) single nucleotide variant not provided [RCV000975534] Chr22:46352141 [GRCh38]
Chr22:46748038 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.83-5C>T single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001277295]|not provided [RCV000981052] Chr22:46337774 [GRCh38]
Chr22:46733671 [GRCh37]
Chr22:22q13.31
likely benign|uncertain significance
NM_018006.5(TRMU):c.1125C>T (p.Asp375=) single nucleotide variant not provided [RCV000978812] Chr22:46356865 [GRCh38]
Chr22:46752762 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.9C>T (p.Ala3=) single nucleotide variant not provided [RCV000941626] Chr22:46335773 [GRCh38]
Chr22:46731670 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.753G>A (p.Lys251=) single nucleotide variant not provided [RCV000943180] Chr22:46352311 [GRCh38]
Chr22:46748208 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.773-4G>A single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001144729]|not provided [RCV001427483] Chr22:46353763 [GRCh38]
Chr22:46749660 [GRCh37]
Chr22:22q13.31
likely benign|uncertain significance
NM_018006.5(TRMU):c.*28G>A single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001144831] Chr22:46357034 [GRCh38]
Chr22:46752931 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.*105A>G single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001144832] Chr22:46357111 [GRCh38]
Chr22:46753008 [GRCh37]
Chr22:22q13.31
uncertain significance
NC_000022.11:g.(?_46343252)_(46343378_?)del deletion not provided [RCV001031086] Chr22:46739149..46739275 [GRCh37]
Chr22:22q13.31
pathogenic
NM_018006.5(TRMU):c.248+47C>G single nucleotide variant not provided [RCV001558145] Chr22:46337991 [GRCh38]
Chr22:46733888 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.651+47G>A single nucleotide variant not provided [RCV001559476] Chr22:46350510 [GRCh38]
Chr22:46746407 [GRCh37]
Chr22:22q13.31
likely benign
Single allele single nucleotide variant not provided [RCV001553161] Chr22:46335132 [GRCh38]
Chr22:46731029 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.355+58C>A single nucleotide variant not provided [RCV001555615] Chr22:46343426 [GRCh38]
Chr22:46739323 [GRCh37]
Chr22:22q13.31
likely benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant not provided [RCV001676678] Chr22:46335874 [GRCh38]
Chr22:46731771 [GRCh37]
Chr22:22q13.31
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001655125] Chr22:46346589 [GRCh38]
Chr22:46742486 [GRCh37]
Chr22:22q13.31
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant not provided [RCV001717047] Chr22:46350522 [GRCh38]
Chr22:46746419 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001674616] Chr22:46335894 [GRCh38]
Chr22:46731791 [GRCh37]
Chr22:22q13.31
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant not provided [RCV001717066] Chr22:46343530 [GRCh38]
Chr22:46739427 [GRCh37]
Chr22:22q13.31
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001594340] Chr22:46350550 [GRCh38]
Chr22:46746447 [GRCh37]
Chr22:22q13.31
likely benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) duplication not provided [RCV001590893] Chr22:46349980..46349981 [GRCh38]
Chr22:46745877..46745878 [GRCh37]
Chr22:22q13.31
likely benign
null single nucleotide variant not provided [RCV001620311] Chr22:46353449 [GRCh38]
Chr22:46749346 [GRCh37]
Chr22:22q13.31
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) insertion not provided [RCV001598955] Chr22:46343173..46343174 [GRCh38]
Chr22:46739070..46739071 [GRCh37]
Chr22:22q13.31
benign
null single nucleotide variant not provided [RCV001695270] Chr22:46346260 [GRCh38]
Chr22:46742157 [GRCh37]
Chr22:22q13.31
benign
NM_018006.5(TRMU):c.69del (p.Leu23_Leu24insTer) deletion not provided [RCV001068279] Chr22:46335833 [GRCh38]
Chr22:46731730 [GRCh37]
Chr22:22q13.31
pathogenic
NM_018006.5(TRMU):c.117G>A (p.Trp39Ter) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001250082]|not provided [RCV001061663] Chr22:46337813 [GRCh38]
Chr22:46733710 [GRCh37]
Chr22:22q13.31
pathogenic
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001645863] Chr22:46355389 [GRCh38]
Chr22:46751286 [GRCh37]
Chr22:22q13.31
benign
NM_018006.5(TRMU):c.581del (p.Gly194fs) deletion not provided [RCV001069640] Chr22:46350388 [GRCh38]
Chr22:46746285 [GRCh37]
Chr22:22q13.31
pathogenic
null single nucleotide variant not provided [RCV001690403] Chr22:46355225 [GRCh38]
Chr22:46751122 [GRCh37]
Chr22:22q13.31
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001681420] Chr22:46353988 [GRCh38]
Chr22:46749885 [GRCh37]
Chr22:22q13.31
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001583579] Chr22:46356296 [GRCh38]
Chr22:46752193 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.773-30C>T single nucleotide variant not provided [RCV001539130] Chr22:46353737 [GRCh38]
Chr22:46749634 [GRCh37]
Chr22:22q13.31
benign
NM_018006.5(TRMU):c.1101+95A>G single nucleotide variant not provided [RCV001547457] Chr22:46356167 [GRCh38]
Chr22:46752064 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.705+10G>A single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001144728] Chr22:46352184 [GRCh38]
Chr22:46748081 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.824_825dup (p.Pro276fs) microsatellite not provided [RCV001245797] Chr22:46353812..46353813 [GRCh38]
Chr22:46749709..46749710 [GRCh37]
Chr22:22q13.31
pathogenic
NM_018006.5(TRMU):c.256T>C (p.Leu86=) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001150845] Chr22:46343269 [GRCh38]
Chr22:46739166 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.*320A>G single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001146792] Chr22:46357326 [GRCh38]
Chr22:46753223 [GRCh37]
Chr22:22q13.31
uncertain significance
Single allele copy number loss 22q13.3 interstitial deletion [RCV001200047] Chr22:44850001..50850001 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
NM_018006.5(TRMU):c.481_483delinsAT (p.Val161fs) indel not provided [RCV001248046] Chr22:46350293..46350295 [GRCh38]
Chr22:46746190..46746192 [GRCh37]
Chr22:22q13.31
pathogenic
NM_018006.5(TRMU):c.958del (p.Ala320fs) deletion not provided [RCV001236624] Chr22:46355528 [GRCh38]
Chr22:46751425 [GRCh37]
Chr22:22q13.31
pathogenic
NM_018006.5(TRMU):c.1000C>T (p.Arg334Cys) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001147601] Chr22:46355570 [GRCh38]
Chr22:46751467 [GRCh37]
Chr22:22q13.31
uncertain significance
GRCh37/hg19 22q13.31(chr22:46421842-46964908)x1 copy number loss See cases [RCV001194545] Chr22:46421842..46964908 [GRCh37]
Chr22:22q13.31
likely pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254366] Chr22:45819932..50737806 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254370] Chr22:44702479..50806138 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254369] Chr22:44245760..50806121 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254358] Chr22:46269281..50740560 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254356] Chr22:43032129..50739836 [GRCh38]
Chr22:22q13.2-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254359] Chr22:45708330..50737364 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion 22q13.3 deletion syndrome [RCV001254364] Chr22:43802117..50806121 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
NM_018006.5(TRMU):c.1211C>A (p.Thr404Asn) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001278849] Chr22:46356951 [GRCh38]
Chr22:46752848 [GRCh37]
Chr22:22q13.31
likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
null single nucleotide variant none provided [RCV001287167]|not provided [RCV001673046] Chr22:46343243 [GRCh38]
Chr22:46739140 [GRCh37]
Chr22:22q13.31
benign
NM_018006.5(TRMU):c.83-8G>A single nucleotide variant not provided [RCV001423206] Chr22:46337771 [GRCh38]
Chr22:46733668 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.1102-7C>T single nucleotide variant not provided [RCV001433401] Chr22:46356835 [GRCh38]
Chr22:46752732 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.648A>G (p.Lys216=) single nucleotide variant not provided [RCV001413239] Chr22:46350460 [GRCh38]
Chr22:46746357 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.855C>T (p.Val285=) single nucleotide variant not provided [RCV001392095] Chr22:46353849 [GRCh38]
Chr22:46749746 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.1140C>T (p.Ser380=) single nucleotide variant not provided [RCV001423087] Chr22:46356880 [GRCh38]
Chr22:46752777 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.471T>C (p.Val157=) single nucleotide variant not provided [RCV001397612] Chr22:46346537 [GRCh38]
Chr22:46742434 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.83-9C>T single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001278846]|not provided [RCV001458728] Chr22:46337770 [GRCh38]
Chr22:46733667 [GRCh37]
Chr22:22q13.31
likely benign|uncertain significance
NM_018006.5(TRMU):c.1131C>T (p.Cys377=) single nucleotide variant not provided [RCV001422088] Chr22:46356871 [GRCh38]
Chr22:46752768 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.408A>T (p.Glu136Asp) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001278847] Chr22:46346474 [GRCh38]
Chr22:46742371 [GRCh37]
Chr22:22q13.31
uncertain significance
NM_018006.5(TRMU):c.1211C>T (p.Thr404Ile) single nucleotide variant Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001278850] Chr22:46356951 [GRCh38]
Chr22:46752848 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.900G>C (p.Leu300=) single nucleotide variant not provided [RCV001394735] Chr22:46355470 [GRCh38]
Chr22:46751367 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.1101+8G>A single nucleotide variant not provided [RCV001482200] Chr22:46356080 [GRCh38]
Chr22:46751977 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.6G>A (p.Gln2=) single nucleotide variant not provided [RCV001399559] Chr22:46335770 [GRCh38]
Chr22:46731667 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.987C>T (p.Cys329=) single nucleotide variant not provided [RCV001399596] Chr22:46355557 [GRCh38]
Chr22:46751454 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.21C>A (p.Val7=) single nucleotide variant not provided [RCV001473855] Chr22:46335785 [GRCh38]
Chr22:46731682 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.585A>G (p.Leu195=) single nucleotide variant not provided [RCV001492650] Chr22:46350397 [GRCh38]
Chr22:46746294 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.897C>T (p.Ala299=) single nucleotide variant not provided [RCV001405338] Chr22:46355467 [GRCh38]
Chr22:46751364 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.462G>A (p.Arg154=) single nucleotide variant not provided [RCV001496975] Chr22:46346528 [GRCh38]
Chr22:46742425 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.597T>C (p.Phe199=) single nucleotide variant not provided [RCV001465456] Chr22:46350409 [GRCh38]
Chr22:46746306 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.789C>T (p.Thr263=) single nucleotide variant not provided [RCV001452758] Chr22:46353783 [GRCh38]
Chr22:46749680 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.30C>G (p.Ala10=) single nucleotide variant not provided [RCV001503371] Chr22:46335794 [GRCh38]
Chr22:46731691 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.1242T>G (p.Gly414=) single nucleotide variant not provided [RCV001463670] Chr22:46356982 [GRCh38]
Chr22:46752879 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.1132C>T (p.Leu378=) single nucleotide variant not provided [RCV001481078] Chr22:46356872 [GRCh38]
Chr22:46752769 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.67C>T (p.Leu23=) single nucleotide variant not provided [RCV001442922] Chr22:46335831 [GRCh38]
Chr22:46731728 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.1102-8C>T single nucleotide variant not provided [RCV001505057] Chr22:46356834 [GRCh38]
Chr22:46752731 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.33G>A (p.Leu11=) single nucleotide variant not provided [RCV001416379] Chr22:46335797 [GRCh38]
Chr22:46731694 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.1102-5T>G single nucleotide variant not provided [RCV001474886] Chr22:46356837 [GRCh38]
Chr22:46752734 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.1110G>A (p.Val370=) single nucleotide variant not provided [RCV001443319] Chr22:46356850 [GRCh38]
Chr22:46752747 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.1018+10G>A single nucleotide variant not provided [RCV001445960] Chr22:46355598 [GRCh38]
Chr22:46751495 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.1053C>A (p.Thr351=) single nucleotide variant not provided [RCV001402106] Chr22:46356024 [GRCh38]
Chr22:46751921 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.567C>T (p.Ile189=) single nucleotide variant not provided [RCV001407188] Chr22:46350379 [GRCh38]
Chr22:46746276 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.393T>C (p.Thr131=) single nucleotide variant not provided [RCV001402530] Chr22:46346459 [GRCh38]
Chr22:46742356 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.42C>G (p.Gly14=) single nucleotide variant not provided [RCV001407491] Chr22:46335806 [GRCh38]
Chr22:46731703 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.870T>C (p.Phe290=) single nucleotide variant not provided [RCV001446867] Chr22:46353864 [GRCh38]
Chr22:46749761 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.513A>G (p.Lys171=) single nucleotide variant not provided [RCV001444135] Chr22:46350325 [GRCh38]
Chr22:46746222 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.903C>T (p.Tyr301=) single nucleotide variant not provided [RCV001401188] Chr22:46355473 [GRCh38]
Chr22:46751370 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.124C>T (p.Leu42=) single nucleotide variant not provided [RCV001444269] Chr22:46337820 [GRCh38]
Chr22:46733717 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.880_898del (p.Arg294fs) deletion not provided [RCV001390019] Chr22:46355447..46355465 [GRCh38]
Chr22:46751344..46751362 [GRCh37]
Chr22:22q13.31
pathogenic
NM_018006.5(TRMU):c.388A>C (p.Arg130=) single nucleotide variant not provided [RCV001407962] Chr22:46346454 [GRCh38]
Chr22:46742351 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.369T>C (p.Ile123=) single nucleotide variant not provided [RCV001410573] Chr22:46346435 [GRCh38]
Chr22:46742332 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.772+2T>G single nucleotide variant not provided [RCV001378434] Chr22:46352332 [GRCh38]
Chr22:46748229 [GRCh37]
Chr22:22q13.31
likely pathogenic
NM_018006.5(TRMU):c.1203G>A (p.Gly401=) single nucleotide variant not provided [RCV001402498] Chr22:46356943 [GRCh38]
Chr22:46752840 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.706-1G>A single nucleotide variant not provided [RCV001390441] Chr22:46352263 [GRCh38]
Chr22:46748160 [GRCh37]
Chr22:22q13.31
pathogenic
NM_018006.5(TRMU):c.478+10T>C single nucleotide variant not provided [RCV001444700] Chr22:46346554 [GRCh38]
Chr22:46742451 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.96A>G (p.Thr32=) single nucleotide variant not provided [RCV001408457] Chr22:46337792 [GRCh38]
Chr22:46733689 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.219C>T (p.Tyr73=) single nucleotide variant not provided [RCV001402527] Chr22:46337915 [GRCh38]
Chr22:46733812 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.942G>T (p.Ala314=) single nucleotide variant not provided [RCV001398430] Chr22:46355512 [GRCh38]
Chr22:46751409 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.1179C>A (p.Leu393=) single nucleotide variant not provided [RCV001411163] Chr22:46356919 [GRCh38]
Chr22:46752816 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.803del (p.Ala268fs) deletion not provided [RCV001384177] Chr22:46353797 [GRCh38]
Chr22:46749694 [GRCh37]
Chr22:22q13.31
pathogenic
NM_018006.5(TRMU):c.1002C>T (p.Arg334=) single nucleotide variant not provided [RCV001448197] Chr22:46355572 [GRCh38]
Chr22:46751469 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.679A>C (p.Arg227=) single nucleotide variant not provided [RCV001416466] Chr22:46352148 [GRCh38]
Chr22:46748045 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.729C>T (p.His243=) single nucleotide variant not provided [RCV001448098] Chr22:46352287 [GRCh38]
Chr22:46748184 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.290_327dup (p.Phe110delinsLeuThrTer) duplication not provided [RCV001387074] Chr22:46343301..46343302 [GRCh38]
Chr22:46739198..46739199 [GRCh37]
Chr22:22q13.31
pathogenic
NM_018006.5(TRMU):c.355+7A>C single nucleotide variant not provided [RCV001438306] Chr22:46343375 [GRCh38]
Chr22:46739272 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.1230C>T (p.Ser410=) single nucleotide variant not provided [RCV001461106] Chr22:46356970 [GRCh38]
Chr22:46752867 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.489C>G (p.Leu163=) single nucleotide variant not provided [RCV001457490] Chr22:46350301 [GRCh38]
Chr22:46746198 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.732T>C (p.Phe244=) single nucleotide variant not provided [RCV001458094] Chr22:46352290 [GRCh38]
Chr22:46748187 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.759G>A (p.Leu253=) single nucleotide variant not provided [RCV001454411] Chr22:46352317 [GRCh38]
Chr22:46748214 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.243G>A (p.Val81=) single nucleotide variant not provided [RCV001502087] Chr22:46337939 [GRCh38]
Chr22:46733836 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.150C>T (p.Ala50=) single nucleotide variant not provided [RCV001473381] Chr22:46337846 [GRCh38]
Chr22:46733743 [GRCh37]
Chr22:22q13.31
likely benign
NM_032043.3(BRIP1):c.1795-12_1795-10del deletion not provided [RCV001717062] Chr22:46343200 [GRCh38]
Chr22:46739097 [GRCh37]
Chr22:22q13.31
benign
NM_018006.5(TRMU):c.1239T>C (p.Asp413=) single nucleotide variant not provided [RCV001496490] Chr22:46356979 [GRCh38]
Chr22:46752876 [GRCh37]
Chr22:22q13.31
likely benign
null single nucleotide variant not provided [RCV001611586] Chr22:46335294 [GRCh38]
Chr22:46731191 [GRCh37]
Chr22:22q13.31
benign
NM_018006.5(TRMU):c.478+9A>G single nucleotide variant not provided [RCV001483636] Chr22:46346553 [GRCh38]
Chr22:46742450 [GRCh37]
Chr22:22q13.31
likely benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) deletion not provided [RCV001686599] Chr22:46335201 [GRCh38]
Chr22:46731098 [GRCh37]
Chr22:22q13.31
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant not provided [RCV001714235] Chr22:46336077 [GRCh38]
Chr22:46731974 [GRCh37]
Chr22:22q13.31
benign
null deletion not provided [RCV001669722] Chr22:46346195..46346198 [GRCh38]
Chr22:46742092..46742095 [GRCh37]
Chr22:22q13.31
benign
NM_018006.5(TRMU):c.817C>T (p.Leu273=) single nucleotide variant not provided [RCV001452751] Chr22:46353811 [GRCh38]
Chr22:46749708 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.36C>T (p.Ser12=) single nucleotide variant not provided [RCV001467203] Chr22:46335800 [GRCh38]
Chr22:46731697 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.1257C>T (p.Pro419=) single nucleotide variant not provided [RCV001453944] Chr22:46356997 [GRCh38]
Chr22:46752894 [GRCh37]
Chr22:22q13.31
likely benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) deletion not provided [RCV001687499] Chr22:46349981 [GRCh38]
Chr22:46745878 [GRCh37]
Chr22:22q13.31
benign
NM_018006.5(TRMU):c.1101+8G>C single nucleotide variant not provided [RCV001439201] Chr22:46356080 [GRCh38]
Chr22:46751977 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.852C>T (p.Ser284=) single nucleotide variant not provided [RCV001437878] Chr22:46353846 [GRCh38]
Chr22:46749743 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.39C>T (p.Gly13=) single nucleotide variant not provided [RCV001497766] Chr22:46335803 [GRCh38]
Chr22:46731700 [GRCh37]
Chr22:22q13.31
likely benign
NC_000022.10:g.(?_46731288)_(46753247_?)del deletion not provided [RCV001388382] Chr22:46731288..46753247 [GRCh37]
Chr22:22q13.31
pathogenic
NM_018006.5(TRMU):c.885A>G (p.Thr295=) single nucleotide variant not provided [RCV001459738] Chr22:46355455 [GRCh38]
Chr22:46751352 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.772+9C>G single nucleotide variant not provided [RCV001483202] Chr22:46352339 [GRCh38]
Chr22:46748236 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.83-10C>G single nucleotide variant not provided [RCV001458887] Chr22:46337769 [GRCh38]
Chr22:46733666 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.963G>A (p.Leu321=) single nucleotide variant not provided [RCV001457875] Chr22:46355533 [GRCh38]
Chr22:46751430 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.1029G>A (p.Val343=) single nucleotide variant not provided [RCV001406639] Chr22:46356000 [GRCh38]
Chr22:46751897 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.874-9A>G single nucleotide variant not provided [RCV001463192] Chr22:46355435 [GRCh38]
Chr22:46751332 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.705+7G>C single nucleotide variant not provided [RCV001505214] Chr22:46352181 [GRCh38]
Chr22:46748078 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.1176G>T (p.Thr392=) single nucleotide variant not provided [RCV001436443] Chr22:46356916 [GRCh38]
Chr22:46752813 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.249-2A>G single nucleotide variant not provided [RCV001378485] Chr22:46343260 [GRCh38]
Chr22:46739157 [GRCh37]
Chr22:22q13.31
likely pathogenic
NM_018006.5(TRMU):c.703C>T (p.Gln235Ter) single nucleotide variant not provided [RCV001380458] Chr22:46352172 [GRCh38]
Chr22:46748069 [GRCh37]
Chr22:22q13.31
pathogenic
NM_018006.5(TRMU):c.909C>T (p.Asp303=) single nucleotide variant not provided [RCV001480669] Chr22:46355479 [GRCh38]
Chr22:46751376 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.444A>G (p.Glu148=) single nucleotide variant not provided [RCV001466409] Chr22:46346510 [GRCh38]
Chr22:46742407 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.705+8C>G single nucleotide variant not provided [RCV001398622] Chr22:46352182 [GRCh38]
Chr22:46748079 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.468A>G (p.Glu156=) single nucleotide variant not provided [RCV001416280] Chr22:46346534 [GRCh38]
Chr22:46742431 [GRCh37]
Chr22:22q13.31
likely benign
NM_018006.5(TRMU):c.21C>T (p.Val7=) single nucleotide variant not provided [RCV001418624] Chr22:46335785 [GRCh38]
Chr22:46731682 [GRCh37]
Chr22:22q13.31
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25481 AgrOrtholog
COSMIC TRMU COSMIC
Ensembl Genes ENSG00000100416 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000370407 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000370409 UniProtKB/TrEMBL
  ENSP00000393014 UniProtKB/TrEMBL
  ENSP00000398488 UniProtKB/TrEMBL
  ENSP00000407700 UniProtKB/Swiss-Prot
  ENSP00000413880 UniProtKB/TrEMBL
  ENSP00000493778 UniProtKB/TrEMBL
  ENSP00000494255 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000494679 UniProtKB/TrEMBL
  ENSP00000495331 UniProtKB/TrEMBL
  ENSP00000496496 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000496641 UniProtKB/TrEMBL
Ensembl Transcript ENST00000381019 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000381021 UniProtKB/TrEMBL
  ENST00000441818 UniProtKB/TrEMBL
  ENST00000453630 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000456595 UniProtKB/TrEMBL
  ENST00000457572 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000642562 UniProtKB/TrEMBL
  ENST00000642923 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000643137 UniProtKB/TrEMBL
  ENST00000644006 UniProtKB/TrEMBL
  ENST00000645190 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000647301 UniProtKB/TrEMBL
Gene3D-CATH 2.30.30.280 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.620 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100416 GTEx
HGNC ID HGNC:25481 ENTREZGENE
Human Proteome Map TRMU Human Proteome Map
InterPro Adenine_a_hdrlase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rossmann-like_a/b/a_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  tRNA-specific_2-thiouridylase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55687 UniProtKB/Swiss-Prot
NCBI Gene 55687 ENTREZGENE
OMIM 580000 OMIM
  610230 OMIM
  613070 OMIM
PharmGKB PA142670701 PharmGKB
TIGRFAMs trmU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y4R7_HUMAN UniProtKB/TrEMBL
  A0A2R8Y6L6_HUMAN UniProtKB/TrEMBL
  A0A2R8YDK3_HUMAN UniProtKB/TrEMBL
  A0A2R8YFQ3_HUMAN UniProtKB/TrEMBL
  B4DZN5_HUMAN UniProtKB/TrEMBL
  MTU1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q2PPL4 ENTREZGENE, UniProtKB/TrEMBL
  Q2PPL5 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8K3U7 UniProtKB/Swiss-Prot
  Q05C99 UniProtKB/Swiss-Prot
  Q5W9C8 UniProtKB/Swiss-Prot
  Q66K31 UniProtKB/Swiss-Prot
  Q6ICC3 UniProtKB/Swiss-Prot
  Q9NWC1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-08-03 TRMU  tRNA mitochondrial 2-thiouridylase  TRMU  tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase  Symbol and/or name change 19259463 PROVISIONAL