ADAT3 (adenosine deaminase tRNA specific 3) - Rat Genome Database

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Gene: ADAT3 (adenosine deaminase tRNA specific 3) Homo sapiens
Analyze
Symbol: ADAT3
Name: adenosine deaminase tRNA specific 3
RGD ID: 1603369
HGNC Page HGNC:25151
Description: Predicted to enable catalytic activity and metal ion binding activity. Predicted to contribute to tRNA-specific adenosine-34 deaminase activity. Predicted to be involved in tRNA processing. Predicted to be located in nucleoplasm. Predicted to be active in cytoplasm and nucleus. Implicated in neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: adenosine deaminase, tRNA specific 3; adenosine deaminase, tRNA-specific 3; adenosine deaminase, tRNA-specific 3, TAD3 homolog; FWP005; MRT36; MST121; MSTP121; NEDBGF; probable inactive tRNA-specific adenosine deaminase-like protein 3; S863-5; TAD3; tRNA-specific adenosine deaminase 3 homolog; tRNA-specific adenosine deaminase-like protein 3; tRNA-specific adenosine-34 deaminase subunit ADAT3
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38191,905,399 - 1,913,447 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl191,905,399 - 1,913,447 (+)EnsemblGRCh38hg38GRCh38
GRCh37191,905,398 - 1,913,446 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36191,856,417 - 1,864,446 (+)NCBINCBI36Build 36hg18NCBI36
Celera191,839,500 - 1,847,520 (+)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef191,676,853 - 1,684,944 (+)NCBIHuRef
CHM1_1191,904,960 - 1,913,035 (+)NCBICHM1_1
T2T-CHM13v2.0191,876,716 - 1,884,760 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component
cytoplasm  (IBA,IEA)
nucleoplasm  (TAS)
nucleus  (IBA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal brain morphology  (IAGP)
Abnormality of the dentition  (IAGP)
Achilles tendon contracture  (IAGP)
Agenesis of corpus callosum  (IAGP)
Aggressive behavior  (IAGP)
Arachnoid cyst  (IAGP)
Atrial septal defect  (IAGP)
Autosomal recessive inheritance  (IAGP)
Brain atrophy  (IAGP)
Chronic constipation  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Congenital finger flexion contractures  (IAGP)
Cryptorchidism  (IAGP)
Decreased response to growth hormone stimulation test  (IAGP)
Decreased serum insulin-like growth factor 1  (IAGP)
Delayed CNS myelination  (IAGP)
Delayed myelination  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Diffuse demyelination of the cerebral white matter  (IAGP)
Epicanthus  (IAGP)
Esotropia  (IAGP)
Facial asymmetry  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Gait disturbance  (IAGP)
Gastroesophageal reflux  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hyperactivity  (IAGP)
Hypertelorism  (IAGP)
Hypohidrosis  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypospadias  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Impulsivity  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint contracture of the hand  (IAGP)
Limitation of joint mobility  (IAGP)
Long face  (IAGP)
Low-set ears  (IAGP)
Macrotia  (IAGP)
Medullary nephrocalcinosis  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Narrow nasal ridge  (IAGP)
Patent ductus arteriosus  (IAGP)
Peripheral neuropathy  (IAGP)
Plagiocephaly  (IAGP)
Polyhydramnios  (IAGP)
Postural instability  (IAGP)
Prominent forehead  (IAGP)
Prominent nose  (IAGP)
Recurrent gastroenteritis  (IAGP)
Recurrent otitis media  (IAGP)
Rocker bottom foot  (IAGP)
Seizure  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Sloping forehead  (IAGP)
Spasticity  (IAGP)
Strabismus  (IAGP)
Synophrys  (IAGP)
Talipes equinovarus  (IAGP)
Telecanthus  (IAGP)
Thick vermilion border  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventriculomegaly  (IAGP)
Wide mouth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:12457566   PMID:12477932   PMID:16344560   PMID:20946988   PMID:21873635   PMID:21988832   PMID:23620220   PMID:25263703   PMID:25916855   PMID:26186194   PMID:26842963   PMID:28514442  
PMID:30296593   PMID:31263000   PMID:32296183   PMID:32393512   PMID:32763916   PMID:33961781   PMID:34373451   PMID:35118659  


Genomics

Comparative Map Data
ADAT3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38191,905,399 - 1,913,447 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl191,905,399 - 1,913,447 (+)EnsemblGRCh38hg38GRCh38
GRCh37191,905,398 - 1,913,446 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36191,856,417 - 1,864,446 (+)NCBINCBI36Build 36hg18NCBI36
Celera191,839,500 - 1,847,520 (+)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef191,676,853 - 1,684,944 (+)NCBIHuRef
CHM1_1191,904,960 - 1,913,035 (+)NCBICHM1_1
T2T-CHM13v2.0191,876,716 - 1,884,760 (+)NCBIT2T-CHM13v2.0
Adat3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391080,438,714 - 80,443,488 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1080,438,714 - 80,443,488 (+)EnsemblGRCm39 Ensembl
GRCm39 Ensembl1080,441,855 - 80,451,618 (+)EnsemblGRCm39 Ensembl
GRCm381080,602,880 - 80,607,654 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1080,606,021 - 80,615,784 (+)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl1080,602,880 - 80,607,654 (+)EnsemblGRCm38mm10GRCm38
MGSCv371080,065,625 - 80,070,399 (+)NCBIGRCm37MGSCv37mm9NCBIm37
Celera1081,620,704 - 81,625,478 (+)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.72NCBI
Adat3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr879,759,758 - 9,761,127 (-)NCBIGRCr8
mRatBN7.279,109,070 - 9,113,673 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl79,101,187 - 9,115,340 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx711,987,333 - 11,988,702 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0713,862,845 - 13,864,214 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0711,728,888 - 11,730,257 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0711,977,285 - 11,981,814 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0712,144,810 - 12,146,179 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4710,619,919 - 10,621,288 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera77,291,257 - 7,292,626 (-)NCBICelera
Cytogenetic Map7q11NCBI
ADAT3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2206,276,650 - 6,284,607 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1195,507,422 - 5,515,555 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v019910,954 - 912,687 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1191,890,221 - 1,892,044 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl191,890,437 - 1,891,748 (+)Ensemblpanpan1.1panPan2
ADAT3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12057,062,706 - 57,065,492 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2056,856,950 - 56,861,365 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02057,794,907 - 57,799,327 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12056,851,736 - 56,856,137 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02057,331,731 - 57,336,147 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02057,532,745 - 57,537,165 (-)NCBIUU_Cfam_GSD_1.0
Adat3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118216,723,639 - 216,730,690 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365881,108,790 - 1,111,287 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ADAT3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl276,628,633 - 76,634,262 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1276,628,626 - 76,634,282 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2277,333,682 - 77,339,154 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ADAT3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.161,695,897 - 1,705,718 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660817,082,891 - 7,090,329 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in ADAT3
85 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
ADAT3, VAL128MET single nucleotide variant Mental retardation, autosomal recessive 36 [RCV000050220] Chr19:19p13.3 pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2555149)x3 copy number gain See cases [RCV000051044] Chr19:259395..2555149 [GRCh38]
Chr19:259395..2555147 [GRCh37]
Chr19:210395..2506147 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3 copy number gain See cases [RCV000052878] Chr19:1565575..4108128 [GRCh38]
Chr19:1565574..4108126 [GRCh37]
Chr19:1516574..4059126 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:259395-1952650)x3 copy number gain See cases [RCV000052875] Chr19:259395..1952650 [GRCh38]
Chr19:259395..1952649 [GRCh37]
Chr19:210395..1903649 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 copy number gain See cases [RCV000052575] Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:945098-1972299)x1 copy number loss See cases [RCV000053938] Chr19:945098..1972299 [GRCh38]
Chr19:945098..1972298 [GRCh37]
Chr19:896098..1923298 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:1727562-2306496)x1 copy number loss See cases [RCV000053941] Chr19:1727562..2306496 [GRCh38]
Chr19:1727561..2306495 [GRCh37]
Chr19:1678561..2257495 [NCBI36]
Chr19:19p13.3		 pathogenic
SCAMP4:c.-41-2114C>T single nucleotide variant Malignant melanoma [RCV000072017] Chr19:1912865 [GRCh38]
Chr19:1912864 [GRCh37]
Chr19:1863864 [NCBI36]
Chr19:19p13.3		 not provided
SCAMP4:c.-41-2082C>G single nucleotide variant Malignant melanoma [RCV000063465] Chr19:1912897 [GRCh38]
Chr19:1912896 [GRCh37]
Chr19:1863896 [NCBI36]
Chr19:19p13.3		 not provided
NM_138422.4(ADAT3):c.751G>A (p.Gly251Ser) single nucleotide variant Inborn genetic diseases [RCV002568720]|Intellectual disability [RCV001251871]|Intellectual disability-strabismus syndrome [RCV001335387] Chr19:1912798 [GRCh38]
Chr19:1912797 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1 copy number loss See cases [RCV000134795] Chr19:1549144..4288720 [GRCh38]
Chr19:1549143..4288717 [GRCh37]
Chr19:1500143..4239717 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:421537-2897921)x3 copy number gain See cases [RCV000134894] Chr19:421537..2897921 [GRCh38]
Chr19:421537..2897919 [GRCh37]
Chr19:372537..2848919 [NCBI36]
Chr19:19p13.3		 likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2068507)x3 copy number gain See cases [RCV000135433] Chr19:259395..2068507 [GRCh38]
Chr19:259395..2068506 [GRCh37]
Chr19:210395..2019506 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3 copy number gain See cases [RCV000136880] Chr19:1351163..2555149 [GRCh38]
Chr19:1351162..2555147 [GRCh37]
Chr19:1302162..2506147 [NCBI36]
Chr19:19p13.3		 uncertain significance
GRCh38/hg38 19p13.3(chr19:1911810-1952591)x3 copy number gain See cases [RCV000140197] Chr19:1911810..1952591 [GRCh38]
Chr19:1911809..1952590 [GRCh37]
Chr19:1862809..1903590 [NCBI36]
Chr19:19p13.3		 benign
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3		 pathogenic
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) single nucleotide variant Intellectual disability-strabismus syndrome [RCV000162122]|not provided [RCV000254727] Chr19:1912477 [GRCh38]
Chr19:1912476 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_138422.4(ADAT3):c.383G>T (p.Arg128Leu) single nucleotide variant ADAT3-related condition [RCV003925560]|Inborn genetic diseases [RCV002525157]|not provided [RCV000766848]|not specified [RCV000521772] Chr19:1912430 [GRCh38]
Chr19:1912429 [GRCh37]
Chr19:19p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 19p13.3(chr19:277373-2555164)x3 copy number gain See cases [RCV000240507] Chr19:277373..2555164 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_138422.4(ADAT3):c.667G>A (p.Val223Met) single nucleotide variant not provided [RCV000523582] Chr19:1912714 [GRCh38]
Chr19:1912713 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.16C>T (p.Arg6Cys) single nucleotide variant not provided [RCV000594825] Chr19:1912063 [GRCh38]
Chr19:1912062 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_079834.4(SCAMP4):c.-41-2384C>T single nucleotide variant ADAT3-related condition [RCV003925418]|not provided [RCV000488362] Chr19:1912595 [GRCh38]
Chr19:1912594 [GRCh37]
Chr19:19p13.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_138422.4(ADAT3):c.586_587delinsTT (p.Ala196Leu) indel not provided [RCV000599503] Chr19:1912633..1912634 [GRCh38]
Chr19:1912632..1912633 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.274A>C (p.Lys92Gln) single nucleotide variant not provided [RCV000593679] Chr19:1912321 [GRCh38]
Chr19:1912320 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_079834.4(SCAMP4):c.-41-2328C>T single nucleotide variant not provided [RCV000435540] Chr19:1912651 [GRCh38]
Chr19:1912650 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.761G>A (p.Arg254His) single nucleotide variant ADAT3-related condition [RCV003932782]|not provided [RCV000479359] Chr19:1912808 [GRCh38]
Chr19:1912807 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_138422.4(ADAT3):c.1093C>G (p.Pro365Ala) single nucleotide variant not provided [RCV000485456] Chr19:1913140 [GRCh38]
Chr19:1913139 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.59C>T (p.Ala20Val) single nucleotide variant Intellectual disability-strabismus syndrome [RCV001335386]|not specified [RCV000503250] Chr19:1912106 [GRCh38]
Chr19:1912105 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.716A>C (p.His239Pro) single nucleotide variant not specified [RCV000503321] Chr19:1912763 [GRCh38]
Chr19:1912762 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.440G>A (p.Arg147Gln) single nucleotide variant Intellectual disability-strabismus syndrome [RCV003139702]|not specified [RCV000501535] Chr19:1912487 [GRCh38]
Chr19:1912486 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.862G>A (p.Glu288Lys) single nucleotide variant not specified [RCV000501696] Chr19:1912909 [GRCh38]
Chr19:1912908 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.62C>G (p.Pro21Arg) single nucleotide variant not specified [RCV000499858] Chr19:1912109 [GRCh38]
Chr19:1912108 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.854A>C (p.Asp285Ala) single nucleotide variant ADAT3-related condition [RCV003942620]|Inborn genetic diseases [RCV002524142]|not provided [RCV000514261]|not specified [RCV000499886] Chr19:1912901 [GRCh38]
Chr19:1912900 [GRCh37]
Chr19:19p13.3		 likely benign
GRCh37/hg19 19p13.3(chr19:260911-1965786)x3 copy number gain See cases [RCV000511452] Chr19:260911..1965786 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_138422.4(ADAT3):c.314C>G (p.Ala105Gly) single nucleotide variant Inborn genetic diseases [RCV003291928] Chr19:1912361 [GRCh38]
Chr19:1912360 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.586del (p.Ala196fs) deletion Intellectual disability-strabismus syndrome [RCV002245055]|not provided [RCV000627469] Chr19:1912631 [GRCh38]
Chr19:1912630 [GRCh37]
Chr19:19p13.3		 likely pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3(chr19:259395-3152419) copy number gain Global developmental delay [RCV000626520] Chr19:259395..3152419 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_138422.4(ADAT3):c.99_106dup (p.Glu36fs) duplication Intellectual disability-strabismus syndrome [RCV000664409] Chr19:1912141..1912142 [GRCh38]
Chr19:1912140..1912141 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:260911-3200875)x3 copy number gain not provided [RCV000684094] Chr19:260911..3200875 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_138422.4(ADAT3):c.888T>C (p.Thr296=) single nucleotide variant Intellectual disability-strabismus syndrome [RCV001544466]|not provided [RCV001685499] Chr19:1912935 [GRCh38]
Chr19:1912934 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1822668-1912976)x3 copy number gain not provided [RCV000752501] Chr19:1822668..1912976 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1822668-1914795)x3 copy number gain not provided [RCV000752502] Chr19:1822668..1914795 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1823760-1914795)x4 copy number gain not provided [RCV000752503] Chr19:1823760..1914795 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1827304-1912976)x4 copy number gain not provided [RCV000752504] Chr19:1827304..1912976 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1827304-1914795)x3 copy number gain not provided [RCV000752505] Chr19:1827304..1914795 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1827503-1912976)x3 copy number gain not provided [RCV000752506] Chr19:1827503..1912976 [GRCh37]
Chr19:19p13.3		 benign
NM_138422.4(ADAT3):c.111T>G (p.Pro37=) single nucleotide variant not provided [RCV000900495] Chr19:1912158 [GRCh38]
Chr19:1912157 [GRCh37]
Chr19:19p13.3		 likely benign
NM_138422.4(ADAT3):c.441G>A (p.Arg147=) single nucleotide variant not provided [RCV000925669] Chr19:1912488 [GRCh38]
Chr19:1912487 [GRCh37]
Chr19:19p13.3		 likely benign
NM_138422.4(ADAT3):c.216C>G (p.Thr72=) single nucleotide variant not provided [RCV000970342] Chr19:1912263 [GRCh38]
Chr19:1912262 [GRCh37]
Chr19:19p13.3		 benign
NM_138422.4(ADAT3):c.831C>T (p.Arg277=) single nucleotide variant not provided [RCV000970343] Chr19:1912878 [GRCh38]
Chr19:1912877 [GRCh37]
Chr19:19p13.3		 benign
NM_138422.4(ADAT3):c.978G>A (p.Ala326=) single nucleotide variant not provided [RCV000927770] Chr19:1913025 [GRCh38]
Chr19:1913024 [GRCh37]
Chr19:19p13.3		 likely benign
NM_138422.4(ADAT3):c.36G>A (p.Ser12=) single nucleotide variant not provided [RCV000950836] Chr19:1912083 [GRCh38]
Chr19:1912082 [GRCh37]
Chr19:19p13.3		 likely benign
NM_138422.4(ADAT3):c.870C>T (p.Gly290=) single nucleotide variant not provided [RCV000893167] Chr19:1912917 [GRCh38]
Chr19:1912916 [GRCh37]
Chr19:19p13.3		 likely benign
NM_138422.4(ADAT3):c.724A>G (p.Met242Val) single nucleotide variant not provided [RCV000880172] Chr19:1912771 [GRCh38]
Chr19:1912770 [GRCh37]
Chr19:19p13.3		 benign
NC_000019.9:g.1406030_3597207dup duplication Neurodevelopmental disorder [RCV000787423] Chr19:1406030..3597207 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:1772993-1990715)x1 copy number loss not provided [RCV000847336] Chr19:1772993..1990715 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:1816218-2152190)x3 copy number gain not provided [RCV000849885] Chr19:1816218..2152190 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 copy number gain not provided [RCV000846988] Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_589946)_(4818389_?)dup duplication not provided [RCV003105391] Chr19:589946..4818389 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589946)_(2151333_?)dup duplication Cyclical neutropenia [RCV003107569] Chr19:589946..2151333 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.363G>A (p.Ser121=) single nucleotide variant ADAT3-related condition [RCV003905851]|not provided [RCV000962602] Chr19:1912410 [GRCh38]
Chr19:1912409 [GRCh37]
Chr19:19p13.3		 benign
NM_138422.4(ADAT3):c.258C>T (p.Pro86=) single nucleotide variant not provided [RCV000907366] Chr19:1912305 [GRCh38]
Chr19:1912304 [GRCh37]
Chr19:19p13.3		 likely benign
NM_138422.4(ADAT3):c.522C>T (p.Ser174=) single nucleotide variant not provided [RCV000955027]|not specified [RCV001818996] Chr19:1912569 [GRCh38]
Chr19:1912568 [GRCh37]
Chr19:19p13.3		 benign
NM_138422.4(ADAT3):c.117G>A (p.Pro39=) single nucleotide variant not provided [RCV000891166] Chr19:1912164 [GRCh38]
Chr19:1912163 [GRCh37]
Chr19:19p13.3		 benign|likely benign
GRCh37/hg19 19p13.3(chr19:260911-3501271)x3 copy number gain not provided [RCV001007025] Chr19:260911..3501271 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_138422.4(ADAT3):c.356C>T (p.Pro119Leu) single nucleotide variant Microcephaly [RCV001252922] Chr19:1912403 [GRCh38]
Chr19:1912402 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.940C>T (p.Leu314=) single nucleotide variant ADAT3-related condition [RCV003976060]|not provided [RCV001707880] Chr19:1912987 [GRCh38]
Chr19:1912986 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:1075192-2256387)x3 copy number gain not provided [RCV001007026] Chr19:1075192..2256387 [GRCh37]
Chr19:19p13.3		 likely pathogenic
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 copy number gain See cases [RCV001007443] Chr19:260912..4384674 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_138422.4(ADAT3):c.1069G>C (p.Glu357Gln) single nucleotide variant Inborn genetic diseases [RCV003263910]|Intellectual disability [RCV001251870]|not specified [RCV001819959] Chr19:1913116 [GRCh38]
Chr19:1913115 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_138422.4(ADAT3):c.820dup (p.Gln274fs) duplication Intellectual disability-strabismus syndrome [RCV001262927]|not provided [RCV002307716] Chr19:1912861..1912862 [GRCh38]
Chr19:1912860..1912861 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-2256387)x3 copy number gain See cases [RCV002285065] Chr19:260911..2256387 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_138422.4(ADAT3):c.338C>G (p.Ala113Gly) single nucleotide variant Intellectual disability-strabismus syndrome [RCV001334518] Chr19:1912385 [GRCh38]
Chr19:1912384 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.239C>A (p.Ser80Ter) single nucleotide variant Mental retardation, autosomal recessive 36 [RCV001328577] Chr19:1912286 [GRCh38]
Chr19:1912285 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_138422.4(ADAT3):c.806C>T (p.Pro269Leu) single nucleotide variant not specified [RCV001280551] Chr19:1912853 [GRCh38]
Chr19:1912852 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.988G>A (p.Asp330Asn) single nucleotide variant ADAT3-related condition [RCV003953625]|not specified [RCV001280550] Chr19:1913035 [GRCh38]
Chr19:1913034 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_138422.4(ADAT3):c.1001G>T (p.Gly334Val) single nucleotide variant Intellectual disability-strabismus syndrome [RCV001334517] Chr19:1913048 [GRCh38]
Chr19:1913047 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.930C>A (p.Cys310Ter) single nucleotide variant Mental retardation, autosomal recessive 36 [RCV001335389] Chr19:1912977 [GRCh38]
Chr19:1912976 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_138422.4(ADAT3):c.897C>G (p.Asp299Glu) single nucleotide variant Intellectual disability-strabismus syndrome [RCV001335388] Chr19:1912944 [GRCh38]
Chr19:1912943 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.54G>C (p.Glu18Asp) single nucleotide variant Intellectual disability-strabismus syndrome [RCV001330347] Chr19:1912101 [GRCh38]
Chr19:1912100 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.973G>C (p.Gly325Arg) single nucleotide variant not provided [RCV001764863] Chr19:1913020 [GRCh38]
Chr19:1913019 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.67C>T (p.Leu23Phe) single nucleotide variant not specified [RCV001817419] Chr19:1912114 [GRCh38]
Chr19:1912113 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.436_446del (p.Ala146fs) deletion not specified [RCV001817738] Chr19:1912481..1912491 [GRCh38]
Chr19:1912480..1912490 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.626G>A (p.Arg209Gln) single nucleotide variant not specified [RCV001820399] Chr19:1912673 [GRCh38]
Chr19:1912672 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.444G>A (p.Pro148=) single nucleotide variant ADAT3-related condition [RCV003923328]|not provided [RCV003416477]|not specified [RCV001820596] Chr19:1912491 [GRCh38]
Chr19:1912490 [GRCh37]
Chr19:19p13.3		 likely benign
NM_138422.4(ADAT3):c.362C>T (p.Ser121Leu) single nucleotide variant not specified [RCV001822293] Chr19:1912409 [GRCh38]
Chr19:1912408 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.941T>C (p.Leu314Pro) single nucleotide variant Intellectual disability-strabismus syndrome [RCV001809276] Chr19:1912988 [GRCh38]
Chr19:1912987 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.24_37del (p.Pro10fs) deletion not provided [RCV001806899] Chr19:1912070..1912083 [GRCh38]
Chr19:1912069..1912082 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_138422.4(ADAT3):c.922G>A (p.Ala308Thr) single nucleotide variant not specified [RCV001820400] Chr19:1912969 [GRCh38]
Chr19:1912968 [GRCh37]
Chr19:19p13.3		 likely benign
NM_138422.4(ADAT3):c.482_487dup (p.His161_Trp162dup) duplication Intellectual disability-strabismus syndrome [RCV001809275] Chr19:1912527..1912528 [GRCh38]
Chr19:1912526..1912527 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589946)_(5696788_?)dup duplication not provided [RCV003113597] Chr19:589946..5696788 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_1456055)_(2456931_?)dup duplication Progressive myoclonic epilepsy type 9 [RCV003122897] Chr19:1456055..2456931 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.748C>T (p.Arg250Cys) single nucleotide variant Intellectual disability-strabismus syndrome [RCV002272936] Chr19:1912795 [GRCh38]
Chr19:1912794 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.427C>G (p.Pro143Ala) single nucleotide variant Intellectual disability-strabismus syndrome [RCV002286362] Chr19:1912474 [GRCh38]
Chr19:1912473 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.875C>T (p.Pro292Leu) single nucleotide variant Intellectual disability-strabismus syndrome [RCV002288382] Chr19:1912922 [GRCh38]
Chr19:1912921 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.877T>A (p.Tyr293Asn) single nucleotide variant Intellectual disability-strabismus syndrome [RCV002289487] Chr19:1912924 [GRCh38]
Chr19:1912923 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.292C>G (p.Arg98Gly) single nucleotide variant Intellectual disability-strabismus syndrome [RCV002288381] Chr19:1912339 [GRCh38]
Chr19:1912338 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_1206913)_(3771740_?)dup duplication not provided [RCV003154903] Chr19:1206913..3771740 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.803C>G (p.Ala268Gly) single nucleotide variant Inborn genetic diseases [RCV002729870] Chr19:1912850 [GRCh38]
Chr19:1912849 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.181G>T (p.Ala61Ser) single nucleotide variant Inborn genetic diseases [RCV002946155]|not provided [RCV003883917] Chr19:1912228 [GRCh38]
Chr19:1912227 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_138422.4(ADAT3):c.1013G>A (p.Arg338His) single nucleotide variant Inborn genetic diseases [RCV002779151] Chr19:1913060 [GRCh38]
Chr19:1913059 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.151A>C (p.Lys51Gln) single nucleotide variant Inborn genetic diseases [RCV002818256] Chr19:1912198 [GRCh38]
Chr19:1912197 [GRCh37]
Chr19:19p13.3		 likely benign
NM_138422.4(ADAT3):c.1025G>T (p.Arg342Leu) single nucleotide variant Inborn genetic diseases [RCV002772616] Chr19:1913072 [GRCh38]
Chr19:1913071 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.215C>T (p.Thr72Ile) single nucleotide variant Inborn genetic diseases [RCV002906154] Chr19:1912262 [GRCh38]
Chr19:1912261 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.962G>C (p.Arg321Pro) single nucleotide variant Inborn genetic diseases [RCV002973082] Chr19:1913009 [GRCh38]
Chr19:1913008 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.545C>T (p.Ser182Phe) single nucleotide variant Intellectual disability-strabismus syndrome [RCV002463425] Chr19:1912592 [GRCh38]
Chr19:1912591 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.551A>G (p.Gln184Arg) single nucleotide variant Intellectual disability-strabismus syndrome [RCV002463426] Chr19:1912598 [GRCh38]
Chr19:1912597 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.596C>T (p.Ala199Val) single nucleotide variant Inborn genetic diseases [RCV002973879] Chr19:1912643 [GRCh38]
Chr19:1912642 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.116C>T (p.Pro39Leu) single nucleotide variant Inborn genetic diseases [RCV002712947] Chr19:1912163 [GRCh38]
Chr19:1912162 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.706C>T (p.Pro236Ser) single nucleotide variant Inborn genetic diseases [RCV002764205] Chr19:1912753 [GRCh38]
Chr19:1912752 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.529G>A (p.Ala177Thr) single nucleotide variant Inborn genetic diseases [RCV002825982] Chr19:1912576 [GRCh38]
Chr19:1912575 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.251C>G (p.Pro84Arg) single nucleotide variant Inborn genetic diseases [RCV002921857] Chr19:1912298 [GRCh38]
Chr19:1912297 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.676A>C (p.Thr226Pro) single nucleotide variant Inborn genetic diseases [RCV002702712] Chr19:1912723 [GRCh38]
Chr19:1912722 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.78G>T (p.Gln26His) single nucleotide variant Inborn genetic diseases [RCV002809691] Chr19:1912125 [GRCh38]
Chr19:1912124 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.701A>C (p.Asp234Ala) single nucleotide variant Inborn genetic diseases [RCV002652595] Chr19:1912748 [GRCh38]
Chr19:1912747 [GRCh37]
Chr19:19p13.3		 likely benign
NM_138422.4(ADAT3):c.355C>A (p.Pro119Thr) single nucleotide variant Inborn genetic diseases [RCV002656945] Chr19:1912402 [GRCh38]
Chr19:1912401 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.108G>C (p.Glu36Asp) single nucleotide variant not provided [RCV003228558] Chr19:1912155 [GRCh38]
Chr19:1912154 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.947A>C (p.His316Pro) single nucleotide variant Intellectual disability-strabismus syndrome [RCV003141205] Chr19:1912994 [GRCh38]
Chr19:1912993 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.874C>T (p.Pro292Ser) single nucleotide variant Intellectual disability-strabismus syndrome [RCV003141204] Chr19:1912921 [GRCh38]
Chr19:1912920 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.56C>T (p.Pro19Leu) single nucleotide variant Inborn genetic diseases [RCV003284465] Chr19:1912103 [GRCh38]
Chr19:1912102 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.777C>A (p.Phe259Leu) single nucleotide variant not provided [RCV003228424] Chr19:1912824 [GRCh38]
Chr19:1912823 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.726G>A (p.Met242Ile) single nucleotide variant Inborn genetic diseases [RCV003359098] Chr19:1912773 [GRCh38]
Chr19:1912772 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.304A>G (p.Ser102Gly) single nucleotide variant Inborn genetic diseases [RCV003385560] Chr19:1912351 [GRCh38]
Chr19:1912350 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.87C>G (p.Cys29Trp) single nucleotide variant Inborn genetic diseases [RCV003367533] Chr19:1912134 [GRCh38]
Chr19:1912133 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.161G>A (p.Gly54Glu) single nucleotide variant Inborn genetic diseases [RCV003370572] Chr19:1912208 [GRCh38]
Chr19:1912207 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.424G>A (p.Val142Met) single nucleotide variant Inborn genetic diseases [RCV003374618] Chr19:1912471 [GRCh38]
Chr19:1912470 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.601C>T (p.Arg201Trp) single nucleotide variant Inborn genetic diseases [RCV003351545] Chr19:1912648 [GRCh38]
Chr19:1912647 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3 copy number gain not provided [RCV003485190] Chr19:260912..7246777 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
NM_138422.4(ADAT3):c.867C>T (p.Asp289=) single nucleotide variant not provided [RCV003413515] Chr19:1912914 [GRCh38]
Chr19:1912913 [GRCh37]
Chr19:19p13.3		 likely benign
GRCh37/hg19 19p13.3(chr19:1773489-2186237)x3 copy number gain not specified [RCV003986105] Chr19:1773489..2186237 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:1648089-2302433)x3 copy number gain not specified [RCV003986124] Chr19:1648089..2302433 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.640G>A (p.Val214Met) single nucleotide variant Intellectual disability-strabismus syndrome [RCV003988692] Chr19:1912687 [GRCh38]
Chr19:1912686 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.147C>T (p.Ser49=) single nucleotide variant not provided [RCV003885123] Chr19:1912194 [GRCh38]
Chr19:1912193 [GRCh37]
Chr19:19p13.3		 likely benign
NM_138422.4(ADAT3):c.626GGGCCGTGG[1] (p.Gly212_Val214del) microsatellite not provided [RCV003885578] Chr19:1912673..1912681 [GRCh38]
Chr19:1912672..1912680 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138422.4(ADAT3):c.888T>G (p.Thr296=) single nucleotide variant ADAT3-related condition [RCV003914653] Chr19:1912935 [GRCh38]
Chr19:1912934 [GRCh37]
Chr19:19p13.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1091
Count of miRNA genes:465
Interacting mature miRNAs:515
Transcripts:ENST00000329478, ENST00000454697, ENST00000602400
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 157 7 82 38 91 6 953 21 55 13 175 133 32 2 493
Low 2274 2879 1611 561 1702 434 3296 2003 3459 327 1267 1465 138 1201 2192 4 1
Below cutoff 2 96 28 23 112 24 104 167 196 71 10 8 1 102 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000329478   ⟹   ENSP00000332448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,905,399 - 1,913,447 (+)Ensembl
RefSeq Acc Id: ENST00000454697   ⟹   ENSP00000404502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl191,908,019 - 1,912,255 (+)Ensembl
RefSeq Acc Id: NM_001329533   ⟹   NP_001316462
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,905,399 - 1,913,447 (+)NCBI
T2T-CHM13v2.0191,876,716 - 1,884,760 (+)NCBI
Sequence:
RefSeq Acc Id: NM_138422   ⟹   NP_612431
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,905,399 - 1,913,447 (+)NCBI
GRCh37191,905,371 - 1,913,446 (+)NCBI
Build 36191,856,417 - 1,864,446 (+)NCBI Archive
Celera191,839,500 - 1,847,520 (+)RGD
HuRef191,676,853 - 1,684,944 (+)NCBI
CHM1_1191,904,960 - 1,913,035 (+)NCBI
T2T-CHM13v2.0191,876,716 - 1,884,760 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001316462 (Get FASTA)   NCBI Sequence Viewer  
  NP_612431 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH11824 (Get FASTA)   NCBI Sequence Viewer  
  EAW69434 (Get FASTA)   NCBI Sequence Viewer  
  EAW69436 (Get FASTA)   NCBI Sequence Viewer  
  EAW69438 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000332448
  ENSP00000332448.2
  ENSP00000404502.2
GenBank Protein Q96EY9 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_612431   ⟸   NM_138422
- Peptide Label: isoform 1
- UniProtKB: D6W601 (UniProtKB/TrEMBL),   D6W602 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316462   ⟸   NM_001329533
- Peptide Label: isoform 2
- UniProtKB: Q96EY9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000404502   ⟸   ENST00000454697
RefSeq Acc Id: ENSP00000332448   ⟸   ENST00000329478
Protein Domains
CMP/dCMP-type deaminase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96EY9-F1-model_v2 AlphaFold Q96EY9 1-351 view protein structure

Promoters
RGD ID:6796023
Promoter ID:HG_KWN:28427
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_079834,   OTTHUMT00000336212,   OTTHUMT00000336214,   OTTHUMT00000336215,   UC002LUH.1,   UC002LUI.1,   UC002LUK.1,   UC010DSS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36191,855,621 - 1,856,807 (+)MPROMDB
RGD ID:6796024
Promoter ID:HG_KWN:28428
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000336216,   OTTHUMT00000336218
Position:
Human AssemblyChrPosition (strand)Source
Build 36191,858,751 - 1,859,251 (+)MPROMDB
RGD ID:7237883
Promoter ID:EPDNEW_H24687
Type:initiation region
Name:ADAT3_1
Description:adenosine deaminase, tRNA specific 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24689  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,905,387 - 1,905,447EPDNEW
RGD ID:7237889
Promoter ID:EPDNEW_H24689
Type:initiation region
Name:ADAT3_2
Description:adenosine deaminase, tRNA specific 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24687  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38191,907,632 - 1,907,692EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25151 AgrOrtholog
COSMIC ADAT3 COSMIC
Ensembl Genes ENSG00000213638 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000329478 ENTREZGENE
  ENST00000329478.4 UniProtKB/TrEMBL
  ENST00000454697.1 UniProtKB/TrEMBL
Gene3D-CATH Cytidine Deaminase, domain 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000213638 GTEx
HGNC ID HGNC:25151 ENTREZGENE
Human Proteome Map ADAT3 Human Proteome Map
InterPro CMP_dCMP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cytidine_deaminase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:113179 UniProtKB/Swiss-Prot
NCBI Gene 113179 ENTREZGENE
OMIM 615302 OMIM
PANTHER CYTOSINE DEAMINASE FAMILY MEMBER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  INACTIVE TRNA-SPECIFIC ADENOSINE DEAMINASE-LIKE PROTEIN 3-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam dCMP_cyt_deam_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162375609 PharmGKB
PROSITE CYT_DCMP_DEAMINASES_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53927 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ADAT3_HUMAN UniProtKB/Swiss-Prot
  C9JFC1_HUMAN UniProtKB/TrEMBL
  D6W601 ENTREZGENE, UniProtKB/TrEMBL
  D6W602 ENTREZGENE
  Q96EY9 ENTREZGENE
UniProt Secondary D6W602 UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-22 ADAT3  adenosine deaminase tRNA specific 3    adenosine deaminase, tRNA specific 3  Symbol and/or name change 5135510 APPROVED
2016-03-21 ADAT3  adenosine deaminase, tRNA specific 3    adenosine deaminase, tRNA-specific 3  Symbol and/or name change 5135510 APPROVED
2011-07-27 ADAT3  adenosine deaminase, tRNA-specific 3  ADAT3  adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED