IBA57 (iron-sulfur cluster assembly factor IBA57) - Rat Genome Database

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Gene: IBA57 (iron-sulfur cluster assembly factor IBA57) Homo sapiens
Analyze
Symbol: IBA57
Name: iron-sulfur cluster assembly factor IBA57
RGD ID: 1606941
HGNC Page HGNC:27302
Description: Enables RNA binding activity. Predicted to be involved in iron-sulfur cluster assembly. Located in mitochondrion. Implicated in hereditary spastic paraplegia 74 and multiple mitochondrial dysfunctions syndrome 3.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C1orf69; FLJ12734; FLJ13849; IBA57 homolog, iron-sulfur cluster assembly; IBA57, iron-sulfur cluster assembly; IBA57, iron-sulfur cluster assembly homolog; iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa; iron-sulfur cluster assembly factor homolog; MMDS3; putative transferase C1orf69, mitochondrial; putative transferase CAF17, mitochondrial; SPG74
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381228,165,804 - 228,182,257 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1228,165,804 - 228,182,257 (+)EnsemblGRCh38hg38GRCh38
GRCh371228,353,505 - 228,369,958 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361226,420,139 - 226,436,581 (+)NCBINCBI36Build 36hg18NCBI36
Celera1201,543,670 - 201,559,968 (+)NCBICelera
Cytogenetic Map1q42.13NCBI
HuRef1198,868,404 - 198,884,736 (+)NCBIHuRef
CHM1_11229,625,750 - 229,642,264 (+)NCBICHM1_1
T2T-CHM13v2.01227,354,800 - 227,371,041 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
mitochondrial matrix  (IBA)
mitochondrion  (HTP,IDA,IEA)

Molecular Function

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

Human Phenotype
Areflexia  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Beta-aminoisobutyric aciduria  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral white matter atrophy  (IAGP)
Cognitive impairment  (IAGP)
Congenital onset  (IAGP)
Decreased Achilles reflex  (IAGP)
Decreased activity of mitochondrial complex I  (IAGP)
Decreased activity of mitochondrial complex II  (IAGP)
Developmental regression  (IAGP)
Diminished alpha-ketoglutarate dehydrogenase activity in cultured fibroblasts  (IAGP)
Distal amyotrophy  (IAGP)
Distal lower limb muscle weakness  (IAGP)
Distal peripheral sensory neuropathy  (IAGP)
Distal sensory impairment  (IAGP)
Elevated brain choline level by MRS  (IAGP)
Elevated lactate:pyruvate ratio  (IAGP)
EMG: neuropathic changes  (IAGP)
Encephalopathy  (IAGP)
Feeding difficulties  (IAGP)
Gait disturbance  (IAGP)
Gastrointestinal stroma tumor  (IAGP)
Generalized muscle weakness  (IAGP)
High palate  (IAGP)
Hyperactive patellar reflex  (IAGP)
Hyperglycinemia  (IAGP)
Hyperreflexia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypotonia  (IAGP)
Increased CSF glycine concentration  (IAGP)
Increased CSF lactate  (IAGP)
Intrauterine growth retardation  (IAGP)
Irritability  (IAGP)
Juvenile onset  (IAGP)
Lactic acidosis  (IAGP)
Leukodystrophy  (IAGP)
Metabolic acidosis  (IAGP)
Microcephaly  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Parathyroid carcinoma  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Pes cavus  (IAGP)
Polyhydramnios  (IAGP)
Polymicrogyria  (IAGP)
Progressive  (IAGP)
Progressive spastic paraplegia  (IAGP)
Recurrent fever  (IAGP)
Respiratory failure  (IAGP)
Respiratory insufficiency  (IAGP)
Retrognathia  (IAGP)
Seizure  (IAGP)
Severe muscular hypotonia  (IAGP)
Slowly progressive  (IAGP)
Spastic paraplegia  (IAGP)
Spastic tetraplegia  (IAGP)
Ventriculomegaly  (IAGP)
Visual field defect  (IAGP)
Visual impairment  (IAGP)
Wide intermamillary distance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery. Maio N and Rouault TA, Biochim Biophys Acta. 2015 Jun;1853(6):1493-512. doi: 10.1016/j.bbamcr.2014.09.009. Epub 2014 Sep 19.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:14702039   PMID:15146197   PMID:16710414   PMID:19656490   PMID:20301682   PMID:20877624   PMID:21873635   PMID:22114354   PMID:22323289   PMID:22681889   PMID:23462291   PMID:25609768  
PMID:25971455   PMID:26186194   PMID:26344197   PMID:26760575   PMID:27499296   PMID:27785568   PMID:28380382   PMID:28514442   PMID:28515276   PMID:28671726   PMID:29111377   PMID:29564676  
PMID:29568061   PMID:30258207   PMID:31056398   PMID:31091453   PMID:31617661   PMID:31796584   PMID:31831856   PMID:32628020   PMID:32877691   PMID:33957083   PMID:33961781   PMID:34079125  
PMID:34373451   PMID:34800366   PMID:35256949   PMID:35546148   PMID:35563538   PMID:35944360   PMID:36215168   PMID:36369321   PMID:36758106   PMID:36898370   PMID:36929488   PMID:37827155  
PMID:38113892   PMID:39408793  


Genomics

Comparative Map Data
IBA57
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381228,165,804 - 228,182,257 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1228,165,804 - 228,182,257 (+)EnsemblGRCh38hg38GRCh38
GRCh371228,353,505 - 228,369,958 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361226,420,139 - 226,436,581 (+)NCBINCBI36Build 36hg18NCBI36
Celera1201,543,670 - 201,559,968 (+)NCBICelera
Cytogenetic Map1q42.13NCBI
HuRef1198,868,404 - 198,884,736 (+)NCBIHuRef
CHM1_11229,625,750 - 229,642,264 (+)NCBICHM1_1
T2T-CHM13v2.01227,354,800 - 227,371,041 (+)NCBIT2T-CHM13v2.0
Iba57
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391159,046,194 - 59,055,391 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1159,046,195 - 59,054,565 (-)EnsemblGRCm39 Ensembl
GRCm381159,155,368 - 59,164,567 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1159,155,369 - 59,163,739 (-)EnsemblGRCm38mm10GRCm38
MGSCv371158,968,871 - 58,977,244 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361158,973,628 - 58,979,934 (-)NCBIMGSCv36mm8
Celera1163,920,293 - 63,928,657 (-)NCBICelera
Cytogenetic Map11B1.3NCBI
cM Map1136.97NCBI
Iba57
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81044,441,579 - 44,450,368 (-)NCBIGRCr8
mRatBN7.21043,942,017 - 43,950,807 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1043,942,017 - 43,950,807 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1048,635,836 - 48,644,626 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01048,126,182 - 48,134,984 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01043,629,787 - 43,638,581 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01045,506,124 - 45,514,909 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1045,504,504 - 45,514,878 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01045,262,185 - 45,270,970 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41045,460,359 - 45,468,258 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1043,205,311 - 43,214,095 (-)NCBICelera
Cytogenetic Map10q22NCBI
Iba57
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955581286,121 - 289,139 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955581284,488 - 289,225 (-)NCBIChiLan1.0ChiLan1.0
IBA57
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2121,422,975 - 21,441,976 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1121,361,152 - 21,379,283 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01203,566,902 - 203,577,857 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11208,779,281 - 208,788,989 (+)NCBIpanpan1.1PanPan1.1panPan2
IBA57
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.114799,540 - 804,191 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl14800,294 - 801,811 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha14346,341 - 351,480 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.014520,581 - 525,721 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl14520,584 - 525,721 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.114711,400 - 716,539 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.014492,267 - 497,374 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.014478,097 - 483,236 (-)NCBIUU_Cfam_GSD_1.0
Iba57
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721387,708,757 - 87,722,258 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493686449,889 - 63,481 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493686450,033 - 63,540 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IBA57
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl251,276,335 - 51,293,544 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1251,276,352 - 51,287,572 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2253,824,583 - 53,835,808 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IBA57
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1251,531,030 - 1,563,180 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660551,410,077 - 1,443,212 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Iba57
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624937908,235 - 914,229 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624937908,216 - 914,229 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IBA57
229 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001010867.4(IBA57):c.697C>T (p.Arg233Ter) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000656685] Chr1:228175139 [GRCh38]
Chr1:228362840 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.940C>T (p.Gln314Ter) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000656687] Chr1:228175382 [GRCh38]
Chr1:228363083 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic
NM_001010867.4(IBA57):c.316A>G (p.Thr106Ala) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000656684]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001309858] Chr1:228166132 [GRCh38]
Chr1:228353833 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001010867.4(IBA57):c.286T>C (p.Tyr96His) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000656683] Chr1:228166102 [GRCh38]
Chr1:228353803 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.323A>C (p.Tyr108Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000656686] Chr1:228166139 [GRCh38]
Chr1:228353840 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic
NM_001010867.4(IBA57):c.941A>C (p.Gln314Pro) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000050221] Chr1:228175383 [GRCh38]
Chr1:228363084 [GRCh37]
Chr1:1q42.13		 pathogenic
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q41-42.13(chr1:221519280-228862141)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|See cases [RCV000053955] Chr1:221519280..228862141 [GRCh38]
Chr1:221692622..228997888 [GRCh37]
Chr1:219759245..227064511 [NCBI36]
Chr1:1q41-42.13		 pathogenic
NM_001010867.4(IBA57):c.678A>G (p.Gln226=) single nucleotide variant Hereditary spastic paraplegia 74 [RCV000185609]|Multiple mitochondrial dysfunctions syndrome 3 [RCV004767125] Chr1:228175028 [GRCh38]
Chr1:228362729 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q42.13(chr1:227613596-229249335)x4 copy number gain See cases [RCV000134940] Chr1:227613596..229249335 [GRCh38]
Chr1:227801297..229385082 [GRCh37]
Chr1:225867920..227451705 [NCBI36]
Chr1:1q42.13		 likely pathogenic|uncertain significance
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1 copy number loss See cases [RCV000135796] Chr1:226185124..232872488 [GRCh38]
Chr1:226372825..233008234 [GRCh37]
Chr1:224439448..231074857 [NCBI36]
Chr1:1q42.12-42.2		 pathogenic
GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1 copy number loss See cases [RCV000136636] Chr1:223347693..228556332 [GRCh38]
Chr1:223521035..228744033 [GRCh37]
Chr1:221587658..226810656 [NCBI36]
Chr1:1q41-42.13		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44		 pathogenic
GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1 copy number loss See cases [RCV000143223] Chr1:225382172..230418801 [GRCh38]
Chr1:225569874..230554547 [GRCh37]
Chr1:223636497..228621170 [NCBI36]
Chr1:1q42.12-42.13		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13		 pathogenic
NM_001010867.4(IBA57):c.342-14C>T single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002186090] Chr1:228174678 [GRCh38]
Chr1:228362379 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.436C>T (p.Arg146Trp) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000656679]|not provided [RCV000676867] Chr1:228174786 [GRCh38]
Chr1:228362487 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic
GRCh38/hg38 1q42.13(chr1:228148416-228372055)x1 copy number loss Breast ductal adenocarcinoma [RCV000207146] Chr1:228148416..228372055 [GRCh38]
Chr1:228336115..228559754 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.801C>T (p.Ala267=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000544429]|not specified [RCV000608735] Chr1:228175243 [GRCh38]
Chr1:228362944 [GRCh37]
Chr1:1q42.13		 likely benign
Single allele complex Breast ductal adenocarcinoma [RCV000207145] Chr1:228353651..228547901 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q42.12-42.13(chr1:226871745-229906954)x1 copy number loss See cases [RCV000240001] Chr1:226871745..229906954 [GRCh37]
Chr1:1q42.12-42.13		 uncertain significance
NM_001010867.4(IBA57):c.833G>T (p.Arg278Leu) single nucleotide variant not provided [RCV000489171] Chr1:228175275 [GRCh38]
Chr1:228362976 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.337T>C (p.Tyr113His) single nucleotide variant not provided [RCV000489793] Chr1:228166153 [GRCh38]
Chr1:228353854 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.1032C>T (p.Ala344=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002064264]|not provided [RCV001698097] Chr1:228175474 [GRCh38]
Chr1:228363175 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.150C>A (p.Cys50Ter) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000656688] Chr1:228165966 [GRCh38]
Chr1:228353667 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.586T>G (p.Trp196Gly) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000656680] Chr1:228174936 [GRCh38]
Chr1:228362637 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.313C>T (p.Arg105Trp) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000626148]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002529780]|not provided [RCV004721494] Chr1:228166129 [GRCh38]
Chr1:228353830 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic|uncertain significance
NM_001010867.4(IBA57):c.283_284delinsAT (p.Gly95Ile) indel not provided [RCV000734687] Chr1:228166099..228166100 [GRCh38]
Chr1:228353800..228353801 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.744C>T (p.Ala248=) single nucleotide variant not provided [RCV000729112] Chr1:228175186 [GRCh38]
Chr1:228362887 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
NM_001010867.4(IBA57):c.134G>C (p.Gly45Ala) single nucleotide variant Hereditary spastic paraplegia 74 [RCV001702372]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001515779]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001702643]|not provided [RCV000676864]|not specified [RCV000431176] Chr1:228165950 [GRCh38]
Chr1:228353651 [GRCh37]
Chr1:1q42.13		 benign
NM_001010867.4(IBA57):c.*19G>A single nucleotide variant not provided [RCV004713967]|not specified [RCV000421416] Chr1:228175532 [GRCh38]
Chr1:228363233 [GRCh37]
Chr1:1q42.13		 benign
NM_001010867.4(IBA57):c.471G>A (p.Leu157=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002522366]|not specified [RCV000438774] Chr1:228174821 [GRCh38]
Chr1:228362522 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.264C>G (p.Ala88=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000533079]|not provided [RCV004711061]|not specified [RCV000442426] Chr1:228166080 [GRCh38]
Chr1:228353781 [GRCh37]
Chr1:1q42.13		 benign|likely benign
NM_001010867.4(IBA57):c.300G>C (p.Leu100=) single nucleotide variant not specified [RCV000439088] Chr1:228166116 [GRCh38]
Chr1:228353817 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.631G>A (p.Gly211Ser) single nucleotide variant Hereditary spastic paraplegia 74 [RCV001702443]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001515780]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001702642]|not provided [RCV000676869]|not specified [RCV000439267] Chr1:228174981 [GRCh38]
Chr1:228362682 [GRCh37]
Chr1:1q42.13		 benign
NM_001010867.4(IBA57):c.204C>T (p.Pro68=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002059640]|not specified [RCV000439384] Chr1:228166020 [GRCh38]
Chr1:228353721 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.162C>T (p.Asp54=) single nucleotide variant IBA57-related disorder [RCV003922784]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002062780]|not specified [RCV000420251] Chr1:228165978 [GRCh38]
Chr1:228353679 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.462C>T (p.His154=) single nucleotide variant IBA57-related disorder [RCV003912668]|Multiple mitochondrial dysfunctions syndrome 3 [RCV000651563]|not provided [RCV004715164]|not specified [RCV000420503] Chr1:228174812 [GRCh38]
Chr1:228362513 [GRCh37]
Chr1:1q42.13		 benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001010867.4(IBA57):c.664C>G (p.His222Asp) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002527082]|not provided [RCV000493963] Chr1:228175014 [GRCh38]
Chr1:228362715 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001010867.4(IBA57):c.947A>C (p.Asn316Thr) single nucleotide variant IBA57-related disorder [RCV003935512]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001424671] Chr1:228175389 [GRCh38]
Chr1:228363090 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.422C>T (p.Ala141Val) single nucleotide variant Inborn genetic diseases [RCV003274765] Chr1:228174772 [GRCh38]
Chr1:228362473 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.686C>T (p.Pro229Leu) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000656681] Chr1:228175128 [GRCh38]
Chr1:228362829 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.706C>T (p.Pro236Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000656682] Chr1:228175148 [GRCh38]
Chr1:228362849 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.335T>G (p.Leu112Trp) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000651559]|not provided [RCV003225108] Chr1:228166151 [GRCh38]
Chr1:228353852 [GRCh37]
Chr1:1q42.13		 likely pathogenic|uncertain significance
NM_001010867.4(IBA57):c.206T>C (p.Phe69Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000651560] Chr1:228166022 [GRCh38]
Chr1:228353723 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.645C>T (p.Asp215=) single nucleotide variant IBA57-related disorder [RCV003905764]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001089105]|not provided [RCV000842128] Chr1:228174995 [GRCh38]
Chr1:228362696 [GRCh37]
Chr1:1q42.13		 benign|likely benign
NM_001010867.4(IBA57):c.961C>T (p.Leu321=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000651562] Chr1:228175403 [GRCh38]
Chr1:228363104 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.780C>T (p.Tyr260=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000875295]|not provided [RCV001697447] Chr1:228175222 [GRCh38]
Chr1:228362923 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.3(IBA57):c.-45dup duplication not specified [RCV000602569] Chr1:228165768..228165769 [GRCh38]
Chr1:228353469..228353470 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.-9T>G single nucleotide variant not specified [RCV000613941] Chr1:228165808 [GRCh38]
Chr1:228353509 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.589C>T (p.Arg197Trp) single nucleotide variant Inborn genetic diseases [RCV000623253]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001860449] Chr1:228174939 [GRCh38]
Chr1:228362640 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.706C>G (p.Pro236Ala) single nucleotide variant Inborn genetic diseases [RCV000623635]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001855309]|not provided [RCV001584452] Chr1:228175148 [GRCh38]
Chr1:228362849 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.599C>T (p.Thr200Ile) single nucleotide variant Inborn genetic diseases [RCV002531381]|Multiple mitochondrial dysfunctions syndrome 3 [RCV000821689]|not provided [RCV000676868] Chr1:228174949 [GRCh38]
Chr1:228362650 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.305T>G (p.Val102Gly) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002532983]|not specified [RCV000714872] Chr1:228166121 [GRCh38]
Chr1:228353822 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.980T>C (p.Ile327Thr) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001088636]|not provided [RCV000676870] Chr1:228175422 [GRCh38]
Chr1:228363123 [GRCh37]
Chr1:1q42.13		 benign|likely benign
NM_001010867.4(IBA57):c.192C>T (p.Pro64=) single nucleotide variant not provided [RCV000676865] Chr1:228166008 [GRCh38]
Chr1:228353709 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.210G>C (p.Leu70=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001087470]|not provided [RCV000676866] Chr1:228166026 [GRCh38]
Chr1:228353727 [GRCh37]
Chr1:1q42.13		 benign|likely benign
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1q42.13(chr1:227696109-229152386)x3 copy number gain not provided [RCV000684706] Chr1:227696109..229152386 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_001010867.4(IBA57):c.354C>A (p.His118Gln) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000702984] Chr1:228174704 [GRCh38]
Chr1:228362405 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.215G>C (p.Gly72Ala) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000696559] Chr1:228166031 [GRCh38]
Chr1:228353732 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.1033G>A (p.Ala345Thr) single nucleotide variant Inborn genetic diseases [RCV002532264]|Multiple mitochondrial dysfunctions syndrome 3 [RCV000694436]|not provided [RCV003442033] Chr1:228175475 [GRCh38]
Chr1:228363176 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q42.13(chr1:228260287-228617063)x1 copy number loss not provided [RCV000736887] Chr1:228260287..228617063 [GRCh37]
Chr1:1q42.13		 benign
GRCh37/hg19 1q42.13(chr1:228336130-228402121)x3 copy number gain not provided [RCV000736888] Chr1:228336130..228402121 [GRCh37]
Chr1:1q42.13		 benign
GRCh37/hg19 1q42.13(chr1:228336130-228404818)x3 copy number gain not provided [RCV000736889] Chr1:228336130..228404818 [GRCh37]
Chr1:1q42.13		 benign
NM_001010867.4(IBA57):c.837C>T (p.Leu279=) single nucleotide variant not provided [RCV000939278] Chr1:228175279 [GRCh38]
Chr1:228362980 [GRCh37]
Chr1:1q42.13		 likely benign
NC_000001.11:g.228165590G>A single nucleotide variant not provided [RCV001569735] Chr1:228165590 [GRCh38]
Chr1:228353291 [GRCh37]
Chr1:1q42.13		 likely benign
GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1 copy number loss not provided [RCV001005180] Chr1:223653722..234591807 [GRCh37]
Chr1:1q41-42.2		 pathogenic
NC_000001.11:g.228165437T>C single nucleotide variant not provided [RCV001570434] Chr1:228165437 [GRCh38]
Chr1:228353138 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.955C>T (p.Leu319=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002542060] Chr1:228175397 [GRCh38]
Chr1:228363098 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.150C>T (p.Cys50=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000878755]|not provided [RCV001815453] Chr1:228165966 [GRCh38]
Chr1:228353667 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.639C>T (p.Leu213=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002065990] Chr1:228174989 [GRCh38]
Chr1:228362690 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.420C>T (p.Leu140=) single nucleotide variant not provided [RCV000983098] Chr1:228174770 [GRCh38]
Chr1:228362471 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.342-7C>A single nucleotide variant IBA57-related disorder [RCV003948241]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001521029]|not provided [RCV000875930] Chr1:228174685 [GRCh38]
Chr1:228362386 [GRCh37]
Chr1:1q42.13		 benign
GRCh37/hg19 1q42.13(chr1:228297613-228703236) copy number gain Aortic valve disease 1 [RCV000770940] Chr1:228297613..228703236 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.384dup (p.Asp129Ter) duplication Multiple mitochondrial dysfunctions syndrome 3 [RCV000818206] Chr1:228174733..228174734 [GRCh38]
Chr1:228362434..228362435 [GRCh37]
Chr1:1q42.13		 pathogenic|uncertain significance
NM_001010867.4(IBA57):c.420C>G (p.Leu140=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002544955]|not provided [RCV003886452] Chr1:228174770 [GRCh38]
Chr1:228362471 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.680-5T>A single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000875016]|not provided [RCV001731964] Chr1:228175117 [GRCh38]
Chr1:228362818 [GRCh37]
Chr1:1q42.13		 likely benign|uncertain significance
NM_001010867.4(IBA57):c.246T>A (p.Ser82Arg) single nucleotide variant Inborn genetic diseases [RCV003243615] Chr1:228166062 [GRCh38]
Chr1:228353763 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.262G>A (p.Ala88Thr) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000811275] Chr1:228166078 [GRCh38]
Chr1:228353779 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q42.13(chr1:228235107-228983659)x3 copy number gain not provided [RCV000848102] Chr1:228235107..228983659 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.259G>A (p.Gly87Arg) single nucleotide variant Inborn genetic diseases [RCV004027415]|Multiple mitochondrial dysfunctions syndrome 3 [RCV000792326]|not provided [RCV003480820] Chr1:228166075 [GRCh38]
Chr1:228353776 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.279C>G (p.Arg93=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001517380]|not provided [RCV000842672] Chr1:228166095 [GRCh38]
Chr1:228353796 [GRCh37]
Chr1:1q42.13		 benign|likely benign
NM_001010867.4(IBA57):c.11C>T (p.Ala4Val) single nucleotide variant Inborn genetic diseases [RCV002537243]|Multiple mitochondrial dysfunctions syndrome 3 [RCV000807128]|not provided [RCV001726334] Chr1:228165827 [GRCh38]
Chr1:228353528 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.989C>G (p.Pro330Arg) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001043863] Chr1:228175431 [GRCh38]
Chr1:228363132 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.85T>G (p.Cys29Gly) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000820403] Chr1:228165901 [GRCh38]
Chr1:228353602 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.342-180C>G single nucleotide variant not provided [RCV000844417] Chr1:228174512 [GRCh38]
Chr1:228362213 [GRCh37]
Chr1:1q42.13		 benign
NM_001010867.4(IBA57):c.156G>A (p.Arg52=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001417588] Chr1:228165972 [GRCh38]
Chr1:228353673 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.449C>T (p.Thr150Met) single nucleotide variant not provided [RCV003239100] Chr1:228174799 [GRCh38]
Chr1:228362500 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
NM_001010867.4(IBA57):c.625_650del (p.Pro209fs) deletion not provided [RCV001008149] Chr1:228174972..228174997 [GRCh38]
Chr1:228362673..228362698 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_001010867.4(IBA57):c.589_590del (p.Arg197fs) deletion Multiple mitochondrial dysfunctions syndrome 3 [RCV001249201] Chr1:228174938..228174939 [GRCh38]
Chr1:228362639..228362640 [GRCh37]
Chr1:1q42.13		 pathogenic
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43		 pathogenic
NM_001010867.4(IBA57):c.560G>A (p.Arg187His) single nucleotide variant not specified [RCV003230938] Chr1:228174910 [GRCh38]
Chr1:228362611 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.535G>T (p.Ala179Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003106447] Chr1:228174885 [GRCh38]
Chr1:228362586 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.*31G>A single nucleotide variant not provided [RCV001580992] Chr1:228175544 [GRCh38]
Chr1:228363245 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.*3C>T single nucleotide variant not provided [RCV001594251] Chr1:228175516 [GRCh38]
Chr1:228363217 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.307C>T (p.Gln103Ter) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002569041]|not provided [RCV001568023] Chr1:228166123 [GRCh38]
Chr1:228353824 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.930C>G (p.Phe310Leu) single nucleotide variant IBA57-related disorder [RCV003967946]|Multiple mitochondrial dysfunctions syndrome 3 [RCV000877922] Chr1:228175372 [GRCh38]
Chr1:228363073 [GRCh37]
Chr1:1q42.13		 benign|likely benign
NM_001010867.4(IBA57):c.82A>G (p.Arg28Gly) single nucleotide variant Inborn genetic diseases [RCV003308215]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002681102] Chr1:228165898 [GRCh38]
Chr1:228353599 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.292del (p.His98fs) deletion Multiple mitochondrial dysfunctions syndrome 3 [RCV002470401] Chr1:228166106 [GRCh38]
Chr1:228353807 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.342-29G>A single nucleotide variant not provided [RCV001558772] Chr1:228174663 [GRCh38]
Chr1:228362364 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.257_260del (p.Ala86fs) deletion not provided [RCV001008623] Chr1:228166072..228166075 [GRCh38]
Chr1:228353773..228353776 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_001010867.4(IBA57):c.923G>T (p.Gly308Val) single nucleotide variant Microcephaly [RCV001252738] Chr1:228175365 [GRCh38]
Chr1:228363066 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44		 pathogenic
NM_001010867.4(IBA57):c.599C>G (p.Thr200Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001070459] Chr1:228174949 [GRCh38]
Chr1:228362650 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.341+1G>A single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001219724] Chr1:228166158 [GRCh38]
Chr1:228353859 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_001010867.4(IBA57):c.190C>A (p.Pro64Thr) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001046920] Chr1:228166006 [GRCh38]
Chr1:228353707 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.893C>T (p.Thr298Met) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001206297] Chr1:228175335 [GRCh38]
Chr1:228363036 [GRCh37]
Chr1:1q42.13		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NC_000001.10:g.(?_228345440)_(228363234_?)dup duplication Spastic paraplegia [RCV001314891] Chr1:228345440..228363234 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.827G>A (p.Arg276His) single nucleotide variant Inborn genetic diseases [RCV003169577]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001337068]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001871897] Chr1:228175269 [GRCh38]
Chr1:228362970 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.577C>T (p.Arg193Cys) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001371706] Chr1:228174927 [GRCh38]
Chr1:228362628 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.434T>C (p.Ile145Thr) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001322115] Chr1:228174784 [GRCh38]
Chr1:228362485 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.748A>G (p.Met250Val) single nucleotide variant Inborn genetic diseases [RCV003166703]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001302426]|not provided [RCV001574468] Chr1:228175190 [GRCh38]
Chr1:228362891 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.232C>G (p.Leu78Val) single nucleotide variant Hereditary spastic paraplegia 74 [RCV001329484] Chr1:228166048 [GRCh38]
Chr1:228353749 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.732G>A (p.Glu244=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001337067] Chr1:228175174 [GRCh38]
Chr1:228362875 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.574G>A (p.Ala192Thr) single nucleotide variant Inborn genetic diseases [RCV004035954]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001340962]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002221275]|not provided [RCV002245968] Chr1:228174924 [GRCh38]
Chr1:228362625 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.341+4A>G single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001305769]|not provided [RCV001760362] Chr1:228166161 [GRCh38]
Chr1:228353862 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.266C>T (p.Pro89Leu) single nucleotide variant Inborn genetic diseases [RCV002546804]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001337066]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001871896] Chr1:228166082 [GRCh38]
Chr1:228353783 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.1033G>T (p.Ala345Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002564200]|not provided [RCV001507534] Chr1:228175475 [GRCh38]
Chr1:228363176 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.285C>T (p.Gly95=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001462154] Chr1:228166101 [GRCh38]
Chr1:228353802 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.768C>T (p.Thr256=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001480601] Chr1:228175210 [GRCh38]
Chr1:228362911 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.341+1G>T single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001379031] Chr1:228166158 [GRCh38]
Chr1:228353859 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_001010867.4(IBA57):c.114T>C (p.Pro38=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001491827] Chr1:228165930 [GRCh38]
Chr1:228353631 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.724C>T (p.Pro242Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002251023] Chr1:228175166 [GRCh38]
Chr1:228362867 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.265_286dup (p.Tyr96fs) duplication Multiple mitochondrial dysfunctions syndrome 3 [RCV001386814] Chr1:228166080..228166081 [GRCh38]
Chr1:228353781..228353782 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.342-87G>A single nucleotide variant not provided [RCV001709339] Chr1:228174605 [GRCh38]
Chr1:228362306 [GRCh37]
Chr1:1q42.13		 benign
NM_001010867.4(IBA57):c.679+3A>G single nucleotide variant Hereditary spastic paraplegia 74 [RCV001726527]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001865866]|Multiple mitochondrial dysfunctions syndrome 3 [RCV003339628]|not provided [RCV003130512] Chr1:228175032 [GRCh38]
Chr1:228362733 [GRCh37]
Chr1:1q42.13		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001010867.4(IBA57):c.262dup (p.Ala88fs) duplication Hereditary spastic paraplegia 74 [RCV001726528]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002550197] Chr1:228166073..228166074 [GRCh38]
Chr1:228353774..228353775 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic
NM_001010867.4(IBA57):c.346C>T (p.Gln116Ter) single nucleotide variant not provided [RCV001783452] Chr1:228174696 [GRCh38]
Chr1:228362397 [GRCh37]
Chr1:1q42.13		 pathogenic
GRCh37/hg19 1q42.13(chr1:227782268-229506509)x1 copy number loss not provided [RCV001795846] Chr1:227782268..229506509 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.894G>A (p.Thr298=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001910027] Chr1:228175336 [GRCh38]
Chr1:228363037 [GRCh37]
Chr1:1q42.13		 likely benign|uncertain significance
NM_001010867.4(IBA57):c.766A>T (p.Thr256Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001910248] Chr1:228175208 [GRCh38]
Chr1:228362909 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.682G>C (p.Val228Leu) single nucleotide variant Inborn genetic diseases [RCV002552330]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001895372] Chr1:228175124 [GRCh38]
Chr1:228362825 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.866C>T (p.Pro289Leu) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002044397] Chr1:228175308 [GRCh38]
Chr1:228363009 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.89G>A (p.Arg30His) single nucleotide variant Inborn genetic diseases [RCV002545585]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002023142] Chr1:228165905 [GRCh38]
Chr1:228353606 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227) copy number loss not specified [RCV002052878] Chr1:226131690..231908227 [GRCh37]
Chr1:1q42.12-42.2		 likely pathogenic
GRCh37/hg19 1q42.13-42.2(chr1:228214912-231483538) copy number loss not specified [RCV002052889] Chr1:228214912..231483538 [GRCh37]
Chr1:1q42.13-42.2		 pathogenic
NM_001010867.4(IBA57):c.316del (p.Thr106fs) deletion IBA57-related disorder [RCV003416582]|Inborn genetic diseases [RCV002555742]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001913432]|not provided [RCV003146341] Chr1:228166132 [GRCh38]
Chr1:228353833 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic
NM_001010867.4(IBA57):c.335T>A (p.Leu112Ter) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001903204] Chr1:228166151 [GRCh38]
Chr1:228353852 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.305T>C (p.Val102Ala) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001900919] Chr1:228166121 [GRCh38]
Chr1:228353822 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.488T>C (p.Leu163Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002034376] Chr1:228174838 [GRCh38]
Chr1:228362539 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.566C>T (p.Pro189Leu) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001922331]|not provided [RCV003164290] Chr1:228174916 [GRCh38]
Chr1:228362617 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.304G>C (p.Val102Leu) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001899295] Chr1:228166120 [GRCh38]
Chr1:228353821 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.227A>G (p.Asn76Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001881741] Chr1:228166043 [GRCh38]
Chr1:228353744 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.23G>A (p.Arg8Gln) single nucleotide variant Inborn genetic diseases [RCV002545516]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002009571]|not provided [RCV004691487] Chr1:228165839 [GRCh38]
Chr1:228353540 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.272C>G (p.Ala91Gly) single nucleotide variant Hereditary spastic paraplegia 74 [RCV003147733]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002015857] Chr1:228166088 [GRCh38]
Chr1:228353789 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.421_422delinsAG (p.Ala141Arg) indel Multiple mitochondrial dysfunctions syndrome 3 [RCV001995936] Chr1:228174771..228174772 [GRCh38]
Chr1:228362472..228362473 [GRCh37]
Chr1:1q42.13		 uncertain significance
NC_000001.10:g.(?_228194830)_(228566496_?)dup duplication Multiple mitochondrial dysfunctions syndrome 3 [RCV001943243]|not provided [RCV001919147] Chr1:228194830..228566496 [GRCh37]
Chr1:1q42.13		 uncertain significance|no classifications from unflagged records
NM_001010867.4(IBA57):c.802C>T (p.Arg268Cys) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002015501] Chr1:228175244 [GRCh38]
Chr1:228362945 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.932G>C (p.Arg311Thr) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001878146] Chr1:228175374 [GRCh38]
Chr1:228363075 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.304G>A (p.Val102Met) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001917332] Chr1:228166120 [GRCh38]
Chr1:228353821 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.31A>T (p.Thr11Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001920352] Chr1:228165847 [GRCh38]
Chr1:228353548 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.1065del (p.Lys356fs) deletion Multiple mitochondrial dysfunctions syndrome 3 [RCV001907396] Chr1:228175506 [GRCh38]
Chr1:228363207 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.680-14T>G single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002113444] Chr1:228175108 [GRCh38]
Chr1:228362809 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.585G>A (p.Gly195=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002145484] Chr1:228174935 [GRCh38]
Chr1:228362636 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.138G>C (p.Ala46=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002133328] Chr1:228165954 [GRCh38]
Chr1:228353655 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.567G>T (p.Pro189=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002101022] Chr1:228174917 [GRCh38]
Chr1:228362618 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.298C>T (p.Leu100=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002118488] Chr1:228166114 [GRCh38]
Chr1:228353815 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.341+9G>A single nucleotide variant IBA57-related disorder [RCV003913783]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002101949]|not provided [RCV004711842] Chr1:228166166 [GRCh38]
Chr1:228353867 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.522G>A (p.Ser174=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003118774] Chr1:228174872 [GRCh38]
Chr1:228362573 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.696C>A (p.Val232=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003121542] Chr1:228175138 [GRCh38]
Chr1:228362839 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.695T>C (p.Val232Ala) single nucleotide variant not provided [RCV003236203] Chr1:228175137 [GRCh38]
Chr1:228362838 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_001010867.4(IBA57):c.506C>T (p.Ala169Val) single nucleotide variant Inborn genetic diseases [RCV002569366]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002569367]|not provided [RCV002469784] Chr1:228174856 [GRCh38]
Chr1:228362557 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.913C>T (p.Gln305Ter) single nucleotide variant C1orf69/IBA57-related disorder [RCV002302474]|Multiple mitochondrial dysfunctions syndrome 3 [RCV003098020] Chr1:228175355 [GRCh38]
Chr1:228363056 [GRCh37]
Chr1:1q42.13		 likely pathogenic|uncertain significance
NM_001010867.4(IBA57):c.-10C>G single nucleotide variant not specified [RCV002302475] Chr1:228165807 [GRCh38]
Chr1:228353508 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.245G>C (p.Ser82Thr) single nucleotide variant Inborn genetic diseases [RCV004065084]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002967727] Chr1:228166061 [GRCh38]
Chr1:228353762 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.193_203dup (p.Phe69fs) duplication Multiple mitochondrial dysfunctions syndrome 3 [RCV002727281] Chr1:228166006..228166007 [GRCh38]
Chr1:228353707..228353708 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.935del (p.Ala312fs) deletion Multiple mitochondrial dysfunctions syndrome 3 [RCV002995377] Chr1:228175377 [GRCh38]
Chr1:228363078 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.341+4A>C single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002863084] Chr1:228166161 [GRCh38]
Chr1:228353862 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.480_481dup (p.Ala161fs) duplication Multiple mitochondrial dysfunctions syndrome 3 [RCV002972628] Chr1:228174828..228174829 [GRCh38]
Chr1:228362529..228362530 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.459G>A (p.Pro153=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002861769] Chr1:228174809 [GRCh38]
Chr1:228362510 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.979A>T (p.Ile327Phe) single nucleotide variant Inborn genetic diseases [RCV003340558]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002904560] Chr1:228175421 [GRCh38]
Chr1:228363122 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.316A>T (p.Thr106Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002971336] Chr1:228166132 [GRCh38]
Chr1:228353833 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.739C>T (p.Leu247=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002750785] Chr1:228175181 [GRCh38]
Chr1:228362882 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.1055C>T (p.Pro352Leu) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002618738] Chr1:228175497 [GRCh38]
Chr1:228363198 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.402C>A (p.Gly134=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002795060] Chr1:228174752 [GRCh38]
Chr1:228362453 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.390C>G (p.Ser130Arg) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002907956] Chr1:228174740 [GRCh38]
Chr1:228362441 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.208C>T (p.Leu70=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002816563] Chr1:228166024 [GRCh38]
Chr1:228353725 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.157C>T (p.Leu53=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002881957] Chr1:228165973 [GRCh38]
Chr1:228353674 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.970T>G (p.Ser324Ala) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003013935] Chr1:228175412 [GRCh38]
Chr1:228363113 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.319C>T (p.Leu107Phe) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002617165] Chr1:228166135 [GRCh38]
Chr1:228353836 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.27C>T (p.Gly9=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002571615]|not provided [RCV002511614] Chr1:228165843 [GRCh38]
Chr1:228353544 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.550A>G (p.Ile184Val) single nucleotide variant Inborn genetic diseases [RCV002687065] Chr1:228174900 [GRCh38]
Chr1:228362601 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.493A>G (p.Ser165Gly) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002882109] Chr1:228174843 [GRCh38]
Chr1:228362544 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.376C>T (p.Leu126=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002970774] Chr1:228174726 [GRCh38]
Chr1:228362427 [GRCh37]
Chr1:1q42.13		 likely benign
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 copy number gain not provided [RCV002475745] Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
NM_001010867.4(IBA57):c.825C>T (p.Ile275=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002614596] Chr1:228175267 [GRCh38]
Chr1:228362968 [GRCh37]
Chr1:1q42.13		 likely benign
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 copy number loss Orofacial cleft 2 [RCV002481175] Chr1:228006998..228061271 [GRCh38]
Chr1:1q32.2-42.13		 association
GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3 copy number gain not provided [RCV002475638] Chr1:227992928..236659905 [GRCh37]
Chr1:1q42.13-43		 likely pathogenic
NM_001010867.4(IBA57):c.737A>G (p.Asn246Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002914055] Chr1:228175179 [GRCh38]
Chr1:228362880 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.147C>G (p.Ala49=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002592454] Chr1:228165963 [GRCh38]
Chr1:228353664 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.640G>A (p.Gly214Arg) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003081318] Chr1:228174990 [GRCh38]
Chr1:228362691 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.584G>C (p.Gly195Ala) single nucleotide variant Inborn genetic diseases [RCV002912224] Chr1:228174934 [GRCh38]
Chr1:228362635 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.826C>T (p.Arg276Cys) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002527167]|Multiple mitochondrial dysfunctions syndrome 3 [RCV003388584] Chr1:228175268 [GRCh38]
Chr1:228362969 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.753C>T (p.Asn251=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002638126] Chr1:228175195 [GRCh38]
Chr1:228362896 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.169A>G (p.Thr57Ala) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002927419] Chr1:228165985 [GRCh38]
Chr1:228353686 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.7A>G (p.Thr3Ala) single nucleotide variant Inborn genetic diseases [RCV002783919] Chr1:228165823 [GRCh38]
Chr1:228353524 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.906C>G (p.Ala302=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002909861] Chr1:228175348 [GRCh38]
Chr1:228363049 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.109A>G (p.Ser37Gly) single nucleotide variant Inborn genetic diseases [RCV002910754] Chr1:228165925 [GRCh38]
Chr1:228353626 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.373C>T (p.Leu125Phe) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002619389] Chr1:228174723 [GRCh38]
Chr1:228362424 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.339C>T (p.Tyr113=) single nucleotide variant IBA57-related disorder [RCV003961128]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002761402] Chr1:228166155 [GRCh38]
Chr1:228353856 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.781A>C (p.Ile261Leu) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002622690] Chr1:228175223 [GRCh38]
Chr1:228362924 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.74_75del (p.Ala25fs) microsatellite Multiple mitochondrial dysfunctions syndrome 3 [RCV002823949] Chr1:228165885..228165886 [GRCh38]
Chr1:228353586..228353587 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.116G>A (p.Gly39Asp) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003021108] Chr1:228165932 [GRCh38]
Chr1:228353633 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.342-15C>T single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002926941] Chr1:228174677 [GRCh38]
Chr1:228362378 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.172C>G (p.Leu58Val) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003057644] Chr1:228165988 [GRCh38]
Chr1:228353689 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.285delinsTA (p.Tyr96fs) indel not provided [RCV003059923] Chr1:228166101 [GRCh38]
Chr1:228353802 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_001010867.4(IBA57):c.680-11A>G single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002596437] Chr1:228175111 [GRCh38]
Chr1:228362812 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.465G>C (p.Pro155=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003082456] Chr1:228174815 [GRCh38]
Chr1:228362516 [GRCh37]
Chr1:1q42.13		 likely benign
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3 copy number gain not provided [RCV002509019] Chr1:224230307..243181599 [GRCh37]
Chr1:1q42.11-43		 not provided
NM_001010867.4(IBA57):c.814A>G (p.Met272Val) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002786711] Chr1:228175256 [GRCh38]
Chr1:228362957 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.454G>T (p.Glu152Ter) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002957904] Chr1:228174804 [GRCh38]
Chr1:228362505 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.341+20G>A single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003024253] Chr1:228166177 [GRCh38]
Chr1:228353878 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.693G>A (p.Gly231=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003082895] Chr1:228175135 [GRCh38]
Chr1:228362836 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.790G>A (p.Glu264Lys) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003042427] Chr1:228175232 [GRCh38]
Chr1:228362933 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.537A>C (p.Ala179=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002711793] Chr1:228174887 [GRCh38]
Chr1:228362588 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.511G>C (p.Gly171Arg) single nucleotide variant Inborn genetic diseases [RCV002697784] Chr1:228174861 [GRCh38]
Chr1:228362562 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.143G>A (p.Trp48Ter) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002623548] Chr1:228165959 [GRCh38]
Chr1:228353660 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.326A>G (p.Asp109Gly) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002710865] Chr1:228166142 [GRCh38]
Chr1:228353843 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.26G>T (p.Gly9Val) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002642678] Chr1:228165842 [GRCh38]
Chr1:228353543 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.851T>C (p.Phe284Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002632694] Chr1:228175293 [GRCh38]
Chr1:228362994 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.1041G>T (p.Val347=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002647336] Chr1:228175483 [GRCh38]
Chr1:228363184 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.668G>A (p.Arg223Gln) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003088921] Chr1:228175018 [GRCh38]
Chr1:228362719 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.720C>T (p.Ala240=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002627984] Chr1:228175162 [GRCh38]
Chr1:228362863 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.763T>C (p.Phe255Leu) single nucleotide variant Inborn genetic diseases [RCV002939904] Chr1:228175205 [GRCh38]
Chr1:228362906 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.342-488_361del deletion Multiple mitochondrial dysfunctions syndrome 3 [RCV003047907] Chr1:228174203..228174710 [GRCh38]
Chr1:228361904..228362411 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_001010867.4(IBA57):c.79C>A (p.Pro27Thr) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002856820] Chr1:228165895 [GRCh38]
Chr1:228353596 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.253_276del (p.Ala85_Ala92del) deletion Inborn genetic diseases [RCV002937403]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002937404] Chr1:228166064..228166087 [GRCh38]
Chr1:228353765..228353788 [GRCh37]
Chr1:1q42.13		 likely benign|uncertain significance
NM_001010867.4(IBA57):c.439C>T (p.Arg147Trp) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002937942] Chr1:228174789 [GRCh38]
Chr1:228362490 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.323A>G (p.Tyr108Cys) single nucleotide variant Inborn genetic diseases [RCV003010907] Chr1:228166139 [GRCh38]
Chr1:228353840 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.342G>C (p.Gly114=) single nucleotide variant Inborn genetic diseases [RCV004632058]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002717290] Chr1:228174692 [GRCh38]
Chr1:228362393 [GRCh37]
Chr1:1q42.13		 likely benign|uncertain significance
NM_001010867.4(IBA57):c.511G>A (p.Gly171Arg) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002599173] Chr1:228174861 [GRCh38]
Chr1:228362562 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.682G>A (p.Val228Ile) single nucleotide variant Inborn genetic diseases [RCV002677287] Chr1:228175124 [GRCh38]
Chr1:228362825 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.754G>A (p.Gly252Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV004765756]|not provided [RCV003131208] Chr1:228175196 [GRCh38]
Chr1:228362897 [GRCh37]
Chr1:1q42.13		 likely pathogenic|uncertain significance
NM_001010867.4(IBA57):c.680-18C>G single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003071381] Chr1:228175104 [GRCh38]
Chr1:228362805 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.1042C>G (p.Pro348Ala) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003093104] Chr1:228175484 [GRCh38]
Chr1:228363185 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.494G>A (p.Ser165Asn) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003093309] Chr1:228174844 [GRCh38]
Chr1:228362545 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.269C>T (p.Pro90Leu) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003072038] Chr1:228166085 [GRCh38]
Chr1:228353786 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.94G>A (p.Ala32Thr) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002944218] Chr1:228165910 [GRCh38]
Chr1:228353611 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.54C>T (p.Val18=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002612356] Chr1:228165870 [GRCh38]
Chr1:228353571 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.173T>C (p.Leu58Pro) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003066257] Chr1:228165989 [GRCh38]
Chr1:228353690 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.104C>T (p.Ser35Phe) single nucleotide variant Inborn genetic diseases [RCV004246002]|not provided [RCV003135712] Chr1:228165920 [GRCh38]
Chr1:228353621 [GRCh37]
Chr1:1q42.13		 likely benign|uncertain significance
NM_001010867.4(IBA57):c.578G>T (p.Arg193Leu) single nucleotide variant not provided [RCV003135713] Chr1:228174928 [GRCh38]
Chr1:228362629 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.121G>A (p.Asp41Asn) single nucleotide variant not provided [RCV003135714] Chr1:228165937 [GRCh38]
Chr1:228353638 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.212T>C (p.Leu71Pro) single nucleotide variant not provided [RCV003135715] Chr1:228166028 [GRCh38]
Chr1:228353729 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.931A>G (p.Arg311Gly) single nucleotide variant Hereditary spastic paraplegia 74 [RCV003340714] Chr1:228175373 [GRCh38]
Chr1:228363074 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.24del (p.Gly9fs) deletion Multiple mitochondrial dysfunctions syndrome 3 [RCV003338210] Chr1:228165840 [GRCh38]
Chr1:228353541 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_001010867.4(IBA57):c.422C>G (p.Ala141Gly) single nucleotide variant Inborn genetic diseases [RCV003347322] Chr1:228174772 [GRCh38]
Chr1:228362473 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.421G>A (p.Ala141Thr) single nucleotide variant Inborn genetic diseases [RCV003347321] Chr1:228174771 [GRCh38]
Chr1:228362472 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.104C>A (p.Ser35Tyr) single nucleotide variant Inborn genetic diseases [RCV003354361] Chr1:228165920 [GRCh38]
Chr1:228353621 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.310G>T (p.Gly104Cys) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003459884]   pathogenic
NM_001010867.4(IBA57):c.778T>C (p.Tyr260His) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003388695] Chr1:228175220 [GRCh38]
Chr1:228362921 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.569_579del (p.Arg190fs) deletion Multiple mitochondrial dysfunctions syndrome 3 [RCV003459885]   pathogenic
NM_001010867.4(IBA57):c.680-6C>T single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003793023] Chr1:228175116 [GRCh38]
Chr1:228362817 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.1005C>T (p.Ala335=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003784237] Chr1:228175447 [GRCh38]
Chr1:228363148 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.284_285insT (p.Tyr96fs) insertion Multiple mitochondrial dysfunctions syndrome 3 [RCV003790507] Chr1:228166100..228166101 [GRCh38]
Chr1:228353801..228353802 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.315G>A (p.Arg105=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003793345] Chr1:228166131 [GRCh38]
Chr1:228353832 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.483G>T (p.Ala161=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003784521] Chr1:228174833 [GRCh38]
Chr1:228362534 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.341+2T>G single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003797702] Chr1:228166159 [GRCh38]
Chr1:228353860 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_001010867.4(IBA57):c.372C>T (p.Phe124=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003796080] Chr1:228174722 [GRCh38]
Chr1:228362423 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.399G>A (p.Gln133=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003783472] Chr1:228174749 [GRCh38]
Chr1:228362450 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.680-15del deletion Multiple mitochondrial dysfunctions syndrome 3 [RCV003806648] Chr1:228175102 [GRCh38]
Chr1:228362803 [GRCh37]
Chr1:1q42.13		 benign
NM_001010867.4(IBA57):c.594C>T (p.Leu198=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003788368] Chr1:228174944 [GRCh38]
Chr1:228362645 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.680-16C>A single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003786197] Chr1:228175106 [GRCh38]
Chr1:228362807 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.948C>T (p.Asn316=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003805004] Chr1:228175390 [GRCh38]
Chr1:228363091 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.195C>T (p.Asp65=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003790423] Chr1:228166011 [GRCh38]
Chr1:228353712 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.285C>A (p.Gly95=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003790508] Chr1:228166101 [GRCh38]
Chr1:228353802 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.30C>T (p.Ala10=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003793678] Chr1:228165846 [GRCh38]
Chr1:228353547 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.612C>G (p.Gly204=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003790624] Chr1:228174962 [GRCh38]
Chr1:228362663 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.33T>A (p.Thr11=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003782812] Chr1:228165849 [GRCh38]
Chr1:228353550 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.987T>G (p.Gly329=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003799944] Chr1:228175429 [GRCh38]
Chr1:228363130 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.84G>A (p.Arg28=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003810317] Chr1:228165900 [GRCh38]
Chr1:228353601 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.264C>T (p.Ala88=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003812929] Chr1:228166080 [GRCh38]
Chr1:228353781 [GRCh37]
Chr1:1q42.13		 likely benign
GRCh37/hg19 1q42.13(chr1:228215364-229747702)x1 copy number loss not specified [RCV003986606] Chr1:228215364..229747702 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.39G>A (p.Gly13=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003818157] Chr1:228165855 [GRCh38]
Chr1:228353556 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.357G>T (p.Ser119=) single nucleotide variant IBA57-related disorder [RCV003964699] Chr1:228174707 [GRCh38]
Chr1:228362408 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.39G>C (p.Gly13=) single nucleotide variant IBA57-related disorder [RCV003963926] Chr1:228165855 [GRCh38]
Chr1:228353556 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.201G>C (p.Ala67=) single nucleotide variant IBA57-related disorder [RCV003947400] Chr1:228166017 [GRCh38]
Chr1:228353718 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.396G>A (p.Val132=) single nucleotide variant IBA57-related disorder [RCV003921663] Chr1:228174746 [GRCh38]
Chr1:228362447 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.61T>A (p.Trp21Arg) single nucleotide variant Inborn genetic diseases [RCV004397678] Chr1:228165877 [GRCh38]
Chr1:228353578 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.109A>C (p.Ser37Arg) single nucleotide variant Inborn genetic diseases [RCV004397676] Chr1:228165925 [GRCh38]
Chr1:228353626 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.100A>C (p.Ser34Arg) single nucleotide variant Inborn genetic diseases [RCV004397675] Chr1:228165916 [GRCh38]
Chr1:228353617 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.145G>C (p.Ala49Pro) single nucleotide variant Inborn genetic diseases [RCV004397677] Chr1:228165961 [GRCh38]
Chr1:228353662 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.815T>C (p.Met272Thr) single nucleotide variant Inborn genetic diseases [RCV004397679] Chr1:228175257 [GRCh38]
Chr1:228362958 [GRCh37]
Chr1:1q42.13		 uncertain significance
NC_000001.10:g.(?_228194830)_(228566496_?)del deletion Multiple mitochondrial dysfunctions syndrome 3 [RCV004583928]|Spastic paraplegia [RCV004583927] Chr1:228194830..228566496 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.489G>A (p.Leu163=) single nucleotide variant not provided [RCV004585820] Chr1:228174839 [GRCh38]
Chr1:228362540 [GRCh37]
Chr1:1q42.13		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4043
Count of miRNA genes:1323
Interacting mature miRNAs:1711
Transcripts:ENST00000366711, ENST00000484749, ENST00000546123
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406985900GWAS634876_Haging, epigenetic status QTL GWAS634876 (human)2e-09aging, epigenetic status1228176631228176632Human

Markers in Region
RH102389  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,363,843 - 228,363,966UniSTSGRCh37
Build 361226,430,466 - 226,430,589RGDNCBI36
Celera1201,553,854 - 201,553,977RGD
Cytogenetic Map1q42.13UniSTS
HuRef1198,878,623 - 198,878,746UniSTS
GeneMap99-GB4 RH Map1720.17UniSTS
RH104454  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,351,943 - 228,352,076UniSTSGRCh37
Build 361226,418,566 - 226,418,699RGDNCBI36
Celera1201,542,184 - 201,542,317RGD
Cytogenetic Map1q42.13UniSTS
HuRef1198,866,918 - 198,867,051UniSTS
GeneMap99-GB4 RH Map1720.07UniSTS
G35510  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6pter-q22.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map11q14.2-q21UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31-q32UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map5q34-q35UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic MapXp22.32UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map20q13.33UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1951 465 2269 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence


Ensembl Acc Id: ENST00000366711   ⟹   ENSP00000355672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1228,165,804 - 228,182,257 (+)Ensembl
Ensembl Acc Id: ENST00000484749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1228,171,178 - 228,182,257 (+)Ensembl
Ensembl Acc Id: ENST00000546123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1228,174,550 - 228,175,575 (+)Ensembl
RefSeq Acc Id: NM_001010867   ⟹   NP_001010867
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,165,804 - 228,182,257 (+)NCBI
GRCh371228,353,429 - 228,369,958 (+)RGD
Build 361226,420,139 - 226,436,581 (+)NCBI Archive
Celera1201,543,670 - 201,559,968 (+)RGD
HuRef1198,868,404 - 198,884,736 (+)RGD
CHM1_11229,625,830 - 229,642,264 (+)NCBI
T2T-CHM13v2.01227,354,800 - 227,371,041 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001310327   ⟹   NP_001297256
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,174,570 - 228,182,257 (+)NCBI
CHM1_11229,634,246 - 229,642,264 (+)NCBI
T2T-CHM13v2.01227,363,355 - 227,371,041 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001010867 (Get FASTA)   NCBI Sequence Viewer  
  NP_001297256 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAG64781 (Get FASTA)   NCBI Sequence Viewer  
  EAW69862 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000355672
  ENSP00000355672.3
GenBank Protein Q5T440 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001010867   ⟸   NM_001010867
- Peptide Label: isoform 1 precursor
- UniProtKB: Q5T440 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001297256   ⟸   NM_001310327
- Peptide Label: isoform 2
- UniProtKB: B4E1G9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000355672   ⟸   ENST00000366711

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5T440-F1-model_v2 AlphaFold Q5T440 1-356 view protein structure

Promoters
RGD ID:6785443
Promoter ID:HG_KWN:7691
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000366713,   NM_001010867
Position:
Human AssemblyChrPosition (strand)Source
Build 361226,419,686 - 226,420,917 (-)MPROMDB
RGD ID:6809525
Promoter ID:HG_ACW:6144
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562
Transcripts:C1ORF69.CAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361226,428,351 - 226,428,897 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:27302 AgrOrtholog
COSMIC IBA57 COSMIC
Ensembl Genes ENSG00000181873 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000366711 ENTREZGENE
  ENST00000366711.4 UniProtKB/Swiss-Prot
GTEx ENSG00000181873 GTEx
HGNC ID HGNC:27302 ENTREZGENE
Human Proteome Map IBA57 Human Proteome Map
InterPro TrmE/GcvT_dom1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  YgfZ/GcvT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  YgfZ/GcvT_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:200205 UniProtKB/Swiss-Prot
NCBI Gene 200205 ENTREZGENE
OMIM 615316 OMIM
PANTHER PTHR22602 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSFERASE CAF17, MITOCHONDRIAL-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672519 PharmGKB
Superfamily-SCOP Folate-binding domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4E1G9 ENTREZGENE, UniProtKB/TrEMBL
  CAF17_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 IBA57  iron-sulfur cluster assembly factor IBA57    IBA57, iron-sulfur cluster assembly  Symbol and/or name change 5135510 APPROVED
2017-12-19 IBA57  IBA57, iron-sulfur cluster assembly    IBA57 homolog, iron-sulfur cluster assembly  Symbol and/or name change 5135510 APPROVED
2015-07-07 IBA57  IBA57 homolog, iron-sulfur cluster assembly    IBA57 iron-sulfur cluster assembly  Symbol and/or name change 5135510 APPROVED
2015-06-30 IBA57  IBA57 iron-sulfur cluster assembly    IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED
2011-07-27 IBA57  IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)  C1orf69  chromosome 1 open reading frame 69  Symbol and/or name change 5135510 APPROVED