ALDH1A3 (aldehyde dehydrogenase 1 family member A3) - Rat Genome Database

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Gene: ALDH1A3 (aldehyde dehydrogenase 1 family member A3) Homo sapiens
Analyze
Symbol: ALDH1A3
Name: aldehyde dehydrogenase 1 family member A3
RGD ID: 1353558
HGNC Page HGNC:409
Description: Enables aldehyde dehydrogenase [NAD(P)+] activity; protein homodimerization activity; and retinal dehydrogenase activity. Involved in protein homotetramerization; retinal metabolic process; and retinoic acid biosynthetic process. Located in cytoplasm. Implicated in isolated microphthalmia 8.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: acetaldehyde dehydrogenase 6; aldehyde dehydrogenase 1 family, member A3; aldehyde dehydrogenase 6; aldehyde dehydrogenase family 1 member A3; ALDH1A6; ALDH6; MCOP8; RALDH-3; RALDH3; retinaldehyde dehydrogenase 3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3815100,879,831 - 100,916,626 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl15100,877,714 - 100,916,626 (+)EnsemblGRCh38hg38GRCh38
GRCh3715101,420,036 - 101,456,831 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361599,237,532 - 99,274,354 (+)NCBINCBI36Build 36hg18NCBI36
Build 341599,237,583 - 99,274,352NCBI
Celera1577,832,935 - 77,870,170 (+)NCBICelera
Cytogenetic Map15q26.3NCBI
HuRef1577,542,416 - 77,578,726 (+)NCBIHuRef
CHM1_115101,260,984 - 101,297,814 (+)NCBICHM1_1
T2T-CHM13v2.01598,634,889 - 98,671,163 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,6-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
2-palmitoylglycerol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP,ISO)
3,3',5-triiodo-L-thyronine  (EXP)
3,4-dichloroaniline  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrolein  (EXP)
adefovir pivoxil  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinal  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-pinene  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bicalutamide  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
butan-1-ol  (EXP)
butanal  (EXP)
butane-2,3-dione  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
cantharidin  (ISO)
carbon nanotube  (EXP,ISO)
carmustine  (EXP)
carnosic acid  (ISO)
CGP 52608  (EXP)
chloroacetaldehyde  (EXP)
chloropicrin  (EXP)
choline  (ISO)
cidofovir anhydrous  (EXP)
cisplatin  (EXP)
clodronic acid  (EXP)
cobalt dichloride  (EXP)
crotonaldehyde  (EXP)
cycloheximide  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibenzo[a,l]pyrene  (ISO)
dibutyl phthalate  (ISO)
dimethylarsinous acid  (EXP)
dioxygen  (EXP,ISO)
diquat  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
entinostat  (EXP)
enzalutamide  (EXP)
Erionite  (ISO)
ethyl methanesulfonate  (EXP)
folic acid  (ISO)
fonofos  (EXP)
formaldehyde  (EXP)
furan  (ISO)
gemcitabine  (EXP)
genistein  (EXP)
glycidyl methacrylate  (EXP)
glyphosate  (EXP)
graphite  (ISO)
hypochlorous acid  (EXP)
ifosfamide  (EXP)
Indeno[1,2,3-cd]pyrene  (EXP)
indometacin  (EXP,ISO)
isoflavones  (EXP)
L-methionine  (ISO)
lithium atom  (ISO)
lithium chloride  (EXP)
lithium hydride  (ISO)
menadione  (ISO)
mercury dibromide  (EXP)
methapyrilene  (EXP)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
monosodium L-glutamate  (ISO)
N-acetyl-1,4-benzoquinone imine  (EXP)
N-nitrosodiethylamine  (ISO)
nitrofen  (ISO)
omeprazole  (EXP)
ozone  (EXP,ISO)
panobinostat  (EXP)
paraquat  (ISO)
parathion  (EXP)
pentanal  (EXP)
pentane-2,3-dione  (EXP)
phenylmercury acetate  (EXP)
PhIP  (ISO)
picene  (EXP)
piroxicam  (EXP)
potassium chromate  (EXP)
pravastatin  (ISO)
progesterone  (EXP,ISO)
propanal  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP)
streptozocin  (ISO)
sulfadimethoxine  (ISO)
sulforaphane  (EXP)
Tanshinone I  (EXP)
tebuconazole  (EXP)
temozolomide  (EXP)
terbufos  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP,ISO)
testosterone enanthate  (EXP)
thapsigargin  (EXP)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
valproic acid  (EXP)
vorinostat  (EXP)
Yessotoxin  (EXP)
zaragozic acid A  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA,IEA)
cytosol  (TAS)
extracellular exosome  (HDA)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Immunolocalization of retinoic acid biosynthesis systems in selected sites in rat. Everts HB, etal., Exp Cell Res. 2005 Aug 15;308(2):309-19.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Physiological insights into all-trans-retinoic acid biosynthesis. Napoli JL Biochim Biophys Acta. 2012 Jan;1821(1):152-67. Epub 2011 May 19.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. Multiple retinol and retinal dehydrogenases catalyze all-trans-retinoic acid biosynthesis in astrocytes. Wang C, etal., J Biol Chem. 2011 Feb 25;286(8):6542-53. Epub 2010 Dec 7.
Additional References at PubMed
PMID:7698756   PMID:9490025   PMID:11585737   PMID:12040753   PMID:12477932   PMID:14702039   PMID:15245423   PMID:15489334   PMID:19322201   PMID:19343046   PMID:19478994   PMID:19703508  
PMID:20709019   PMID:20833146   PMID:20967262   PMID:21280157   PMID:21873635   PMID:22131125   PMID:22960273   PMID:23250514   PMID:23312594   PMID:23436614   PMID:23533145   PMID:23591992  
PMID:23646827   PMID:23650391   PMID:23881059   PMID:24024553   PMID:24047698   PMID:24053169   PMID:24167362   PMID:24568872   PMID:24777706   PMID:24884875   PMID:24907115   PMID:25106087  
PMID:25656374   PMID:25684492   PMID:25793304   PMID:25868979   PMID:25963833   PMID:25969992   PMID:26352270   PMID:26575197   PMID:26687806   PMID:26873617   PMID:27015121   PMID:27076629  
PMID:27286452   PMID:27320910   PMID:27569208   PMID:27759097   PMID:28423611   PMID:28443495   PMID:28514442   PMID:28581514   PMID:29235568   PMID:29306018   PMID:29467333   PMID:29720480  
PMID:29873276   PMID:30143021   PMID:30200890   PMID:30538217   PMID:30711629   PMID:30958800   PMID:31197235   PMID:31347176   PMID:31409639   PMID:31642564   PMID:31923393   PMID:31932471  
PMID:31960523   PMID:31980649   PMID:32270866   PMID:32375698   PMID:32658903   PMID:32680476   PMID:33125503   PMID:33764154   PMID:33961781   PMID:34287093   PMID:34316707   PMID:34428540  
PMID:34548470   PMID:35418200   PMID:35598658   PMID:35790283   PMID:35831314   PMID:36168628   PMID:36288878   PMID:36996494   PMID:36997679   PMID:37753740   PMID:37947601  


Genomics

Comparative Map Data
ALDH1A3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3815100,879,831 - 100,916,626 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl15100,877,714 - 100,916,626 (+)EnsemblGRCh38hg38GRCh38
GRCh3715101,420,036 - 101,456,831 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361599,237,532 - 99,274,354 (+)NCBINCBI36Build 36hg18NCBI36
Build 341599,237,583 - 99,274,352NCBI
Celera1577,832,935 - 77,870,170 (+)NCBICelera
Cytogenetic Map15q26.3NCBI
HuRef1577,542,416 - 77,578,726 (+)NCBIHuRef
CHM1_115101,260,984 - 101,297,814 (+)NCBICHM1_1
T2T-CHM13v2.01598,634,889 - 98,671,163 (+)NCBIT2T-CHM13v2.0
Aldh1a3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39766,040,640 - 66,077,225 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl766,040,638 - 66,077,265 (-)EnsemblGRCm39 Ensembl
GRCm38766,390,892 - 66,427,477 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl766,390,890 - 66,427,517 (-)EnsemblGRCm38mm10GRCm38
MGSCv37773,535,778 - 73,572,363 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36766,269,842 - 66,313,378 (-)NCBIMGSCv36mm8
Celera763,845,586 - 63,882,073 (-)NCBICelera
Cytogenetic Map7CNCBI
cM Map735.73NCBI
Aldh1a3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81129,392,516 - 129,436,552 (-)NCBIGRCr8
mRatBN7.21119,982,272 - 120,017,416 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1119,982,277 - 120,017,436 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1127,975,926 - 128,009,224 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01135,147,379 - 135,180,677 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01127,957,727 - 127,991,000 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01127,302,920 - 127,337,828 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1127,301,128 - 127,337,882 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01128,382,914 - 128,415,160 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41120,847,746 - 120,881,883 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11120,926,088 - 120,960,226 (-)NCBI
Celera1112,188,129 - 112,221,404 (-)NCBICelera
Cytogenetic Map1q22NCBI
Aldh1a3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541627,823,611 - 27,858,173 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541627,823,611 - 27,858,112 (+)NCBIChiLan1.0ChiLan1.0
ALDH1A3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21690,469,977 - 90,506,962 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11594,170,122 - 94,207,128 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01579,603,893 - 79,640,866 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11598,891,776 - 98,928,286 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1598,891,770 - 98,928,396 (+)Ensemblpanpan1.1panPan2
ALDH1A3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1340,130,904 - 40,168,686 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl340,132,726 - 40,168,664 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha342,820,112 - 42,857,782 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0340,522,454 - 40,560,130 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl340,522,340 - 40,560,113 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1340,054,895 - 40,092,579 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0340,292,280 - 40,329,945 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0340,494,117 - 40,531,822 (-)NCBIUU_Cfam_GSD_1.0
Aldh1a3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640143,367,150 - 143,403,705 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364832,930,789 - 2,967,346 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364832,930,781 - 2,967,309 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ALDH1A3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1139,451,049 - 139,491,511 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11139,451,080 - 139,491,514 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21155,732,334 - 155,751,055 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ALDH1A3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12919,347,101 - 19,383,600 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605927,159,145 - 27,196,034 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Aldh1a3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247683,851,257 - 3,885,609 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247683,851,361 - 3,885,609 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ALDH1A3
109 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000693.4(ALDH1A3):c.265C>T (p.Arg89Cys) single nucleotide variant Isolated microphthalmia 8 [RCV000033221] Chr15:100887632 [GRCh38]
Chr15:101427837 [GRCh37]
Chr15:15q26.3		 pathogenic
NM_000693.4(ALDH1A3):c.1477G>C (p.Ala493Pro) single nucleotide variant Isolated microphthalmia 8 [RCV000033222] Chr15:100914711 [GRCh38]
Chr15:101454916 [GRCh37]
Chr15:15q26.3		 pathogenic
NM_000693.4(ALDH1A3):c.475+1G>T single nucleotide variant Isolated microphthalmia 8 [RCV000033223] Chr15:100892640 [GRCh38]
Chr15:101432845 [GRCh37]
Chr15:15q26.3		 pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:94033008-101843270)x3 copy number gain See cases [RCV000050851] Chr15:94033008..101843270 [GRCh38]
Chr15:94576237..102383473 [GRCh37]
Chr15:92377241..100200996 [NCBI36]
Chr15:15q26.2-26.3		 pathogenic
GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3 copy number gain See cases [RCV000052354] Chr15:89679237..101978958 [GRCh38]
Chr15:90222468..102519161 [GRCh37]
Chr15:88023472..100336684 [NCBI36]
Chr15:15q26.1-26.3		 pathogenic
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3		 pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 copy number gain See cases [RCV000052347] Chr15:77543797..101843411 [GRCh38]
Chr15:77836139..102383614 [GRCh37]
Chr15:75623194..100201137 [NCBI36]
Chr15:15q24.3-26.3		 pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3 copy number gain See cases [RCV000052352] Chr15:84169153..101904929 [GRCh38]
Chr15:84837905..102445132 [GRCh37]
Chr15:82628909..100262655 [NCBI36]
Chr15:15q25.2-26.3		 pathogenic
GRCh38/hg38 15q26.3(chr15:100455891-101069775)x1 copy number loss See cases [RCV000051973] Chr15:100455891..101069775 [GRCh38]
Chr15:100996096..101609980 [GRCh37]
Chr15:98813619..99427503 [NCBI36]
Chr15:15q26.3		 uncertain significance
GRCh38/hg38 15q26.3(chr15:100447986-101062436)x3 copy number gain See cases [RCV000052139] Chr15:100447986..101062436 [GRCh38]
Chr15:100988191..101602641 [GRCh37]
Chr15:98805714..99420164 [NCBI36]
Chr15:15q26.3		 uncertain significance
GRCh38/hg38 15q26.3(chr15:100502358-101087274)x3 copy number gain See cases [RCV000052140] Chr15:100502358..101087274 [GRCh38]
Chr15:101042563..101627479 [GRCh37]
Chr15:98860086..99445002 [NCBI36]
Chr15:15q26.3		 uncertain significance
GRCh38/hg38 15q26.2-26.3(chr15:96069425-101849578)x1 copy number loss See cases [RCV000053228] Chr15:96069425..101849578 [GRCh38]
Chr15:96612654..102389781 [GRCh37]
Chr15:94413658..100207304 [NCBI36]
Chr15:15q26.2-26.3		 pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:96329791-101849578)x1 copy number loss See cases [RCV000053244] Chr15:96329791..101849578 [GRCh38]
Chr15:96873020..102389781 [GRCh37]
Chr15:94674024..100207304 [NCBI36]
Chr15:15q26.2-26.3		 pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:96913979-101843411)x1 copy number loss See cases [RCV000053245] Chr15:96913979..101843411 [GRCh38]
Chr15:97457209..102383614 [GRCh37]
Chr15:95258213..100201137 [NCBI36]
Chr15:15q26.2-26.3		 pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:97735430-101810992)x1 copy number loss See cases [RCV000053246] Chr15:97735430..101810992 [GRCh38]
Chr15:98278660..102351195 [GRCh37]
Chr15:96079664..100168718 [NCBI36]
Chr15:15q26.2-26.3		 pathogenic
GRCh38/hg38 15q26.3(chr15:98845807-101843270)x1 copy number loss See cases [RCV000053247] Chr15:98845807..101843270 [GRCh38]
Chr15:99389036..102383473 [GRCh37]
Chr15:97206559..100200996 [NCBI36]
Chr15:15q26.3		 pathogenic
GRCh38/hg38 15q26.3(chr15:98926805-101843270)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053248]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053248]|See cases [RCV000053248] Chr15:98926805..101843270 [GRCh38]
Chr15:99470034..102383473 [GRCh37]
Chr15:97287557..100200996 [NCBI36]
Chr15:15q26.3		 pathogenic
GRCh38/hg38 15q26.3(chr15:100126374-101843270)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053249]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053249]|See cases [RCV000053249] Chr15:100126374..101843270 [GRCh38]
Chr15:100666579..102383473 [GRCh37]
Chr15:98484102..100200996 [NCBI36]
Chr15:15q26.3		 pathogenic
GRCh38/hg38 15q26.3(chr15:100222791-101843270)x1 copy number loss See cases [RCV000053250] Chr15:100222791..101843270 [GRCh38]
Chr15:100762996..102383473 [GRCh37]
Chr15:98580519..100200996 [NCBI36]
Chr15:15q26.3		 pathogenic
NM_000693.4(ALDH1A3):c.99+129G>A single nucleotide variant not provided [RCV002292907] Chr15:100880135 [GRCh38]
Chr15:101420340 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.211G>A (p.Val71Met) single nucleotide variant not provided [RCV000128477] Chr15:100887578 [GRCh38]
Chr15:101427783 [GRCh37]
Chr15:15q26.3		 pathogenic
GRCh38/hg38 15q26.1-26.3(chr15:93198717-101843270)x1 copy number loss See cases [RCV000133733] Chr15:93198717..101843270 [GRCh38]
Chr15:93741946..102383473 [GRCh37]
Chr15:91542950..100200996 [NCBI36]
Chr15:15q26.1-26.3		 pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:97014065-101843270)x1 copy number loss See cases [RCV000135397] Chr15:97014065..101843270 [GRCh38]
Chr15:97557295..102383473 [GRCh37]
Chr15:95358299..100200996 [NCBI36]
Chr15:15q26.2-26.3		 pathogenic
GRCh38/hg38 15q26.3(chr15:99155987-101843270)x1 copy number loss See cases [RCV000134969] Chr15:99155987..101843270 [GRCh38]
Chr15:99696192..102383473 [GRCh37]
Chr15:97513715..100200996 [NCBI36]
Chr15:15q26.3		 pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3 copy number gain See cases [RCV000135858] Chr15:83711377..101843270 [GRCh38]
Chr15:84380129..102383473 [GRCh37]
Chr15:82171133..100200996 [NCBI36]
Chr15:15q25.2-26.3		 pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3 copy number gain See cases [RCV000135568] Chr15:87904735..101843270 [GRCh38]
Chr15:88447966..102383473 [GRCh37]
Chr15:86248970..100200996 [NCBI36]
Chr15:15q25.3-26.3		 pathogenic
GRCh38/hg38 15q26.3(chr15:100194660-101373649)x3 copy number gain See cases [RCV000135930] Chr15:100194660..101373649 [GRCh38]
Chr15:100734865..101913854 [GRCh37]
Chr15:98552388..99731377 [NCBI36]
Chr15:15q26.3		 pathogenic|uncertain significance
GRCh38/hg38 15q26.3(chr15:100455891-101105126)x3 copy number gain See cases [RCV000137025] Chr15:100455891..101105126 [GRCh38]
Chr15:100996096..101645331 [GRCh37]
Chr15:98813619..99462854 [NCBI36]
Chr15:15q26.3		 uncertain significance
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 copy number gain See cases [RCV000136849] Chr15:82859676..101810992 [GRCh38]
Chr15:83528428..102351195 [GRCh37]
Chr15:81325482..100168718 [NCBI36]
Chr15:15q25.2-26.3		 pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:95770627-101810992)x1 copy number loss See cases [RCV000136864] Chr15:95770627..101810992 [GRCh38]
Chr15:96313856..102351195 [GRCh37]
Chr15:94114860..100168718 [NCBI36]
Chr15:15q26.2-26.3		 pathogenic
GRCh38/hg38 15q26.3(chr15:100472094-101062436)x3 copy number gain See cases [RCV000137638] Chr15:100472094..101062436 [GRCh38]
Chr15:101012299..101602641 [GRCh37]
Chr15:98829822..99420164 [NCBI36]
Chr15:15q26.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4 copy number gain See cases [RCV000137264] Chr15:85826665..101920998 [GRCh38]
Chr15:86369896..102461201 [GRCh37]
Chr15:84170900..100278724 [NCBI36]
Chr15:15q25.3-26.3		 pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:97941427-101797926)x1 copy number loss See cases [RCV000139666] Chr15:97941427..101797926 [GRCh38]
Chr15:98484657..102338129 [GRCh37]
Chr15:96285661..100155652 [NCBI36]
Chr15:15q26.2-26.3		 pathogenic
GRCh38/hg38 15q26.3(chr15:100515544-101045707)x3 copy number gain See cases [RCV000139469] Chr15:100515544..101045707 [GRCh38]
Chr15:101055749..101585912 [GRCh37]
Chr15:98873272..99403435 [NCBI36]
Chr15:15q26.3		 conflicting data from submitters
GRCh38/hg38 15q26.2-26.3(chr15:97172754-101920998)x1 copy number loss See cases [RCV000141263] Chr15:97172754..101920998 [GRCh38]
Chr15:97715984..102461201 [GRCh37]
Chr15:95516988..100278724 [NCBI36]
Chr15:15q26.2-26.3		 pathogenic
GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3 copy number gain See cases [RCV000141431] Chr15:93041524..101941326 [GRCh38]
Chr15:93584754..102481529 [GRCh37]
Chr15:91385758..100299052 [NCBI36]
Chr15:15q26.1-26.3		 pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:97283711-101920998)x3 copy number gain See cases [RCV000140658] Chr15:97283711..101920998 [GRCh38]
Chr15:97826941..102461201 [GRCh37]
Chr15:95627945..100278724 [NCBI36]
Chr15:15q26.2-26.3		 likely pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3 copy number gain See cases [RCV000141899] Chr15:85397539..101888909 [GRCh38]
Chr15:85940770..102429112 [GRCh37]
Chr15:83741774..100246635 [NCBI36]
Chr15:15q25.3-26.3		 pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3		 pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:96024127-101920998)x1 copy number loss See cases [RCV000143088] Chr15:96024127..101920998 [GRCh38]
Chr15:96567356..102461201 [GRCh37]
Chr15:94368360..100278724 [NCBI36]
Chr15:15q26.2-26.3		 pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3		 pathogenic
GRCh38/hg38 15q26.3(chr15:99338283-101843270)x3 copy number gain See cases [RCV000142579] Chr15:99338283..101843270 [GRCh38]
Chr15:99878488..102383473 [GRCh37]
Chr15:97696011..100200996 [NCBI36]
Chr15:15q26.3		 pathogenic
GRCh38/hg38 15q26.3(chr15:98467297-101843270)x1 copy number loss See cases [RCV000142728] Chr15:98467297..101843270 [GRCh38]
Chr15:99010526..102383473 [GRCh37]
Chr15:96828049..100200996 [NCBI36]
Chr15:15q26.3		 pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:97681713-101920998)x1 copy number loss See cases [RCV000143176] Chr15:97681713..101920998 [GRCh38]
Chr15:98224943..102461201 [GRCh37]
Chr15:96025947..100278724 [NCBI36]
Chr15:15q26.2-26.3		 pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:93805032-101326876)x1 copy number loss See cases [RCV000143687] Chr15:93805032..101326876 [GRCh38]
Chr15:94348261..101867081 [GRCh37]
Chr15:92149265..99684604 [NCBI36]
Chr15:15q26.2-26.3		 pathogenic
GRCh38/hg38 15q26.3(chr15:98280297-101888909)x3 copy number gain See cases [RCV000143526] Chr15:98280297..101888909 [GRCh38]
Chr15:98823526..102429112 [GRCh37]
Chr15:96641049..100246635 [NCBI36]
Chr15:15q26.3		 pathogenic
NM_000693.4(ALDH1A3):c.1514T>C (p.Ile505Thr) single nucleotide variant Autism [RCV000194309] Chr15:100914748 [GRCh38]
Chr15:101454953 [GRCh37]
Chr15:15q26.3		 likely pathogenic
NM_000693.4(ALDH1A3):c.43A>G (p.Arg15Gly) single nucleotide variant ALDH1A3-related condition [RCV003919910]|Isolated microphthalmia 8 [RCV001082420]|not provided [RCV000224752] Chr15:100879950 [GRCh38]
Chr15:101420155 [GRCh37]
Chr15:15q26.3		 benign|likely benign
GRCh37/hg19 15q26.2-26.3(chr15:98458265-102354857)x1 copy number loss See cases [RCV000239905] Chr15:98458265..102354857 [GRCh37]
Chr15:15q26.2-26.3		 pathogenic
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 copy number gain See cases [RCV000511332] Chr15:76061144..102429112 [GRCh37]
Chr15:15q24.2-26.3		 pathogenic
NM_000693.4(ALDH1A3):c.1156A>G (p.Met386Val) single nucleotide variant Isolated microphthalmia 8 [RCV001511882]|not provided [RCV001682985]|not specified [RCV000251319] Chr15:100905610 [GRCh38]
Chr15:101445815 [GRCh37]
Chr15:15q26.3		 benign
GRCh37/hg19 15q26.1-26.3(chr15:92197136-102354857)x1 copy number loss See cases [RCV000240535] Chr15:92197136..102354857 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
NM_000693.4(ALDH1A3):c.807G>A (p.Ala269=) single nucleotide variant not specified [RCV000249510] Chr15:100898109 [GRCh38]
Chr15:101438314 [GRCh37]
Chr15:15q26.3		 likely benign
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3		 pathogenic
NM_000693.4(ALDH1A3):c.1233+8G>A single nucleotide variant Isolated microphthalmia 8 [RCV001511370]|not provided [RCV000836645]|not specified [RCV000243355] Chr15:100905695 [GRCh38]
Chr15:101445900 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.205-176G>C single nucleotide variant not provided [RCV001567837] Chr15:100887396 [GRCh38]
Chr15:101427601 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.184G>T (p.Glu62Ter) single nucleotide variant not provided [RCV000597126] Chr15:100885351 [GRCh38]
Chr15:101425556 [GRCh37]
Chr15:15q26.3		 likely pathogenic
NM_000693.4(ALDH1A3):c.204+5A>C single nucleotide variant Isolated microphthalmia 8 [RCV000527974] Chr15:100885376 [GRCh38]
Chr15:101425581 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.537+5G>A single nucleotide variant not provided [RCV000522027] Chr15:100893011 [GRCh38]
Chr15:101433216 [GRCh37]
Chr15:15q26.3		 pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3		 likely pathogenic
GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3 copy number gain See cases [RCV000449119] Chr15:85089467..102495441 [GRCh37]
Chr15:15q25.2-26.3		 pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90346994-102354798) copy number loss See cases [RCV000447603] Chr15:90346994..102354798 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:95238218-102429112)x1 copy number loss See cases [RCV000446457] Chr15:95238218..102429112 [GRCh37]
Chr15:15q26.2-26.3		 pathogenic
GRCh37/hg19 15q26.3(chr15:101387472-101720748)x3 copy number gain See cases [RCV000445972] Chr15:101387472..101720748 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q26.1-26.3(chr15:89924847-102429112)x3 copy number gain See cases [RCV000445978] Chr15:89924847..102429112 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:94782891-102429112)x1 copy number loss See cases [RCV000445764] Chr15:94782891..102429112 [GRCh37]
Chr15:15q26.2-26.3		 pathogenic
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3 copy number gain See cases [RCV000445705] Chr15:80648093..102429112 [GRCh37]
Chr15:15q25.1-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3 copy number gain See cases [RCV000448044] Chr15:86148286..102511616 [GRCh37]
Chr15:15q25.3-26.3		 pathogenic
NC_000015.9:g.(?_100885379)_(102399948_?)dup duplication Schizophrenia [RCV000416623] Chr15:100885379..102399948 [GRCh37]
Chr15:98702902..100217471 [NCBI36]
Chr15:15q26.3		 likely pathogenic
GRCh37/hg19 15q26.3(chr15:98818228-102399760) copy number loss See cases [RCV000447813] Chr15:98818228..102399760 [GRCh37]
Chr15:15q26.3		 pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:97223728-102429112)x1 copy number loss See cases [RCV000448857] Chr15:97223728..102429112 [GRCh37]
Chr15:15q26.2-26.3		 pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:95136822-102045577)x1 copy number loss See cases [RCV000512141] Chr15:95136822..102045577 [GRCh37]
Chr15:15q26.2-26.3		 pathogenic
GRCh37/hg19 15q26.3(chr15:101124214-102429112)x1 copy number loss See cases [RCV000510246] Chr15:101124214..102429112 [GRCh37]
Chr15:15q26.3		 likely benign
GRCh37/hg19 15q26.2-26.3(chr15:96913435-102429112)x1 copy number loss See cases [RCV000510663] Chr15:96913435..102429112 [GRCh37]
Chr15:15q26.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
NM_000693.4(ALDH1A3):c.845G>A (p.Gly282Glu) single nucleotide variant Isolated microphthalmia 8 [RCV001851358]|not provided [RCV000493670] Chr15:100898147 [GRCh38]
Chr15:101438352 [GRCh37]
Chr15:15q26.3		 likely pathogenic|uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:93148806-102429112)x3 copy number gain See cases [RCV000511719] Chr15:93148806..102429112 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q26.3(chr15:100987918-101615864)x3 copy number gain See cases [RCV000511957] Chr15:100987918..101615864 [GRCh37]
Chr15:15q26.3		 likely benign
GRCh37/hg19 15q26.3(chr15:100564922-102399548)x1 copy number loss See cases [RCV000511119] Chr15:100564922..102399548 [GRCh37]
Chr15:15q26.3		 uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
NM_000693.4(ALDH1A3):c.19G>C (p.Ala7Pro) single nucleotide variant Inborn genetic diseases [RCV003275416] Chr15:100879926 [GRCh38]
Chr15:101420131 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_000693.4(ALDH1A3):c.690G>A (p.Val230=) single nucleotide variant ALDH1A3-related condition [RCV003915610]|Isolated microphthalmia 8 [RCV000540564] Chr15:100895956 [GRCh38]
Chr15:101436161 [GRCh37]
Chr15:15q26.3		 likely benign
GRCh37/hg19 15q26.2-26.3(chr15:98220018-102429112)x1 copy number loss See cases [RCV000512353] Chr15:98220018..102429112 [GRCh37]
Chr15:15q26.2-26.3		 pathogenic
GRCh37/hg19 15q26.3(chr15:101238481-102429112)x1 copy number loss See cases [RCV000512205] Chr15:101238481..102429112 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q26.3(chr15:98737093-102429112)x1 copy number loss See cases [RCV000512437] Chr15:98737093..102429112 [GRCh37]
Chr15:15q26.3		 pathogenic
NM_000693.4(ALDH1A3):c.1436G>A (p.Gly479Asp) single nucleotide variant Isolated anophthalmia-microphthalmia syndrome [RCV000710043] Chr15:100908452 [GRCh38]
Chr15:101448657 [GRCh37]
Chr15:15q26.3		 likely pathogenic
GRCh37/hg19 15q26.3(chr15:100979052-101616877)x1 copy number loss not provided [RCV000683734] Chr15:100979052..101616877 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q26.3(chr15:100526020-102429112)x1 copy number loss not provided [RCV000683730] Chr15:100526020..102429112 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3 copy number gain not provided [RCV000683718] Chr15:89743929..102429112 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q26.3(chr15:99928623-102429112)x3 copy number gain not provided [RCV000683726] Chr15:99928623..102429112 [GRCh37]
Chr15:15q26.3		 likely pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3		 pathogenic
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 copy number gain not provided [RCV000683710] Chr15:77479244..102429112 [GRCh37]
Chr15:15q24.3-26.3		 pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:88385150-102461162)x3 copy number gain not provided [RCV000738864] Chr15:88385150..102461162 [GRCh37]
Chr15:15q25.3-26.3		 pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90277151-102376761)x3 copy number gain not provided [RCV000751387] Chr15:90277151..102376761 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q26.3(chr15:100953005-101612059)x3 copy number gain not provided [RCV000751425] Chr15:100953005..101612059 [GRCh37]
Chr15:15q26.3		 likely benign
GRCh37/hg19 15q26.3(chr15:101418958-101420425)x1 copy number loss not provided [RCV000751428] Chr15:101418958..101420425 [GRCh37]
Chr15:15q26.3		 benign
GRCh37/hg19 15q26.3(chr15:101418958-101420527)x1 copy number loss not provided [RCV000751429] Chr15:101418958..101420527 [GRCh37]
Chr15:15q26.3		 benign
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_000693.4(ALDH1A3):c.781-217T>C single nucleotide variant not provided [RCV001640796] Chr15:100897866 [GRCh38]
Chr15:101438071 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.780+82A>G single nucleotide variant not provided [RCV001691200] Chr15:100896128 [GRCh38]
Chr15:101436333 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.1068+91T>C single nucleotide variant not provided [RCV001533995] Chr15:100900850 [GRCh38]
Chr15:101441055 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.204+300dup duplication not provided [RCV001681470] Chr15:100885655..100885656 [GRCh38]
Chr15:101425860..101425861 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.1233+307A>C single nucleotide variant not provided [RCV001645575] Chr15:100905994 [GRCh38]
Chr15:101446199 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.1068+24A>C single nucleotide variant not provided [RCV001681820] Chr15:100900783 [GRCh38]
Chr15:101440988 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.205-236_205-177del deletion not provided [RCV001580873] Chr15:100887321..100887380 [GRCh38]
Chr15:101427526..101427585 [GRCh37]
Chr15:15q26.3		 likely benign
GRCh37/hg19 15q26.2-26.3(chr15:96878099-102397836)x1 copy number loss Chromosome 15q26-qter deletion syndrome [RCV000993689] Chr15:96878099..102397836 [GRCh37]
Chr15:15q26.2-26.3		 pathogenic
NM_000693.4(ALDH1A3):c.1134G>A (p.Lys378=) single nucleotide variant ALDH1A3-related condition [RCV003955764]|Isolated microphthalmia 8 [RCV000877888]|not provided [RCV003389842] Chr15:100905588 [GRCh38]
Chr15:101445793 [GRCh37]
Chr15:15q26.3		 benign|likely benign
NM_000693.4(ALDH1A3):c.768C>T (p.Thr256=) single nucleotide variant not provided [RCV000921324] Chr15:100896034 [GRCh38]
Chr15:101436239 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.1026C>T (p.Pro342=) single nucleotide variant not provided [RCV000971999] Chr15:100900717 [GRCh38]
Chr15:101440922 [GRCh37]
Chr15:15q26.3		 pathogenic|likely benign
NM_000693.4(ALDH1A3):c.843G>T (p.Leu281=) single nucleotide variant not provided [RCV000945572] Chr15:100898145 [GRCh38]
Chr15:101438350 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.1305C>T (p.Thr435=) single nucleotide variant not provided [RCV000924423] Chr15:100907192 [GRCh38]
Chr15:101447397 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.1107C>A (p.Ile369=) single nucleotide variant ALDH1A3-related condition [RCV003975493]|Isolated microphthalmia 8 [RCV000878336] Chr15:100905561 [GRCh38]
Chr15:101445766 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.1386G>A (p.Thr462=) single nucleotide variant Isolated microphthalmia 8 [RCV000949207]|not provided [RCV003389851] Chr15:100907273 [GRCh38]
Chr15:101447478 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.843G>C (p.Leu281=) single nucleotide variant not provided [RCV000904853] Chr15:100898145 [GRCh38]
Chr15:101438350 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.945G>T (p.Thr315=) single nucleotide variant Isolated microphthalmia 8 [RCV000878324] Chr15:100900636 [GRCh38]
Chr15:101440841 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.1306G>A (p.Asp436Asn) single nucleotide variant Isolated microphthalmia 8 [RCV001502721] Chr15:100907193 [GRCh38]
Chr15:101447398 [GRCh37]
Chr15:15q26.3		 pathogenic|likely benign
NM_000693.4(ALDH1A3):c.365C>G (p.Thr122Arg) single nucleotide variant not provided [RCV000995439] Chr15:100892529 [GRCh38]
Chr15:101432734 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_000693.4(ALDH1A3):c.1407C>T (p.Asn469=) single nucleotide variant Isolated microphthalmia 8 [RCV000952572] Chr15:100908423 [GRCh38]
Chr15:101448628 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.884-10C>T single nucleotide variant Isolated microphthalmia 8 [RCV000886495] Chr15:100900565 [GRCh38]
Chr15:101440770 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.327G>A (p.Arg109=) single nucleotide variant Isolated microphthalmia 8 [RCV000951666] Chr15:100887694 [GRCh38]
Chr15:101427899 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.210C>T (p.Asp70=) single nucleotide variant Isolated microphthalmia 8 [RCV002547245] Chr15:100887577 [GRCh38]
Chr15:101427782 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.1293A>G (p.Arg431=) single nucleotide variant Isolated microphthalmia 8 [RCV002539331] Chr15:100907180 [GRCh38]
Chr15:101447385 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.487G>A (p.Val163Met) single nucleotide variant Inborn genetic diseases [RCV003243650] Chr15:100892956 [GRCh38]
Chr15:101433161 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q26.2-26.3(chr15:96873212-102389423) copy number loss not provided [RCV000767761] Chr15:96873212..102389423 [GRCh37]
Chr15:15q26.2-26.3		 pathogenic
NM_000693.4(ALDH1A3):c.780+136T>A single nucleotide variant not provided [RCV000833506] Chr15:100896182 [GRCh38]
Chr15:101436387 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.780+56C>T single nucleotide variant not provided [RCV000836644] Chr15:100896102 [GRCh38]
Chr15:101436307 [GRCh37]
Chr15:15q26.3		 benign
NC_000015.10:g.100905695G>A single nucleotide variant not provided [RCV000836645] Chr15:101445900 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.1392-42T>A single nucleotide variant not provided [RCV000836646] Chr15:100908366 [GRCh38]
Chr15:101448571 [GRCh37]
Chr15:15q26.3		 benign
GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3 copy number gain not provided [RCV000846885] Chr15:90288175..102429112 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
NM_000693.4(ALDH1A3):c.964G>A (p.Val322Met) single nucleotide variant Isolated microphthalmia 8 [RCV000809359] Chr15:100900655 [GRCh38]
Chr15:101440860 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_000693.4(ALDH1A3):c.204+127T>C single nucleotide variant not provided [RCV000844053] Chr15:100885498 [GRCh38]
Chr15:101425703 [GRCh37]
Chr15:15q26.3		 benign
Single allele deletion Neurodevelopmental disorder [RCV000787377] Chr15:100996051..101607098 [GRCh37]
Chr15:15q26.3		 uncertain significance
NC_000015.9:g.(?_101420093)_(101454998_?)dup duplication Isolated microphthalmia 8 [RCV000807928] Chr15:100879888..100914793 [GRCh38]
Chr15:101420093..101454998 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1 copy number loss not provided [RCV001006718] Chr15:87189245..102429112 [GRCh37]
Chr15:15q25.3-26.3		 pathogenic
GRCh37/hg19 15q26.3(chr15:98795669-102429112)x1 copy number loss not provided [RCV001006730] Chr15:98795669..102429112 [GRCh37]
Chr15:15q26.3		 pathogenic
GRCh37/hg19 15q26.3(chr15:100923767-101626187) copy number loss Esophageal atresia [RCV000986106] Chr15:100923767..101626187 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q26.3(chr15:98686212-102429112)x1 copy number loss not provided [RCV001006729] Chr15:98686212..102429112 [GRCh37]
Chr15:15q26.3		 pathogenic
NM_000693.4(ALDH1A3):c.100-2A>G single nucleotide variant Isolated microphthalmia 8 [RCV003229646] Chr15:100885265 [GRCh38]
Chr15:101425470 [GRCh37]
Chr15:15q26.3		 pathogenic
NM_000693.4(ALDH1A3):c.1467-126C>A single nucleotide variant not provided [RCV001576671] Chr15:100914575 [GRCh38]
Chr15:101454780 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.205-57C>T single nucleotide variant not provided [RCV001564822] Chr15:100887515 [GRCh38]
Chr15:101427720 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.346-311C>T single nucleotide variant not provided [RCV001588575] Chr15:100892199 [GRCh38]
Chr15:101432404 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.345+81A>C single nucleotide variant not provided [RCV001661015] Chr15:100887793 [GRCh38]
Chr15:101427998 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.204+299_204+300dup duplication not provided [RCV001654179] Chr15:100885655..100885656 [GRCh38]
Chr15:101425860..101425861 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.205-192C>G single nucleotide variant not provided [RCV001564866] Chr15:100887380 [GRCh38]
Chr15:101427585 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.346-34T>C single nucleotide variant not provided [RCV001691188] Chr15:100892476 [GRCh38]
Chr15:101432681 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.475+69C>G single nucleotide variant not provided [RCV001669306] Chr15:100892708 [GRCh38]
Chr15:101432913 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.1391+274T>G single nucleotide variant not provided [RCV001594625] Chr15:100907552 [GRCh38]
Chr15:101447757 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.*31G>C single nucleotide variant not provided [RCV001541122] Chr15:100914804 [GRCh38]
Chr15:101455009 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.1485C>T (p.Ala495=) single nucleotide variant ALDH1A3-related condition [RCV003933320]|not provided [RCV000951575] Chr15:100914719 [GRCh38]
Chr15:101454924 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.987G>A (p.Glu329=) single nucleotide variant Isolated microphthalmia 8 [RCV003539378] Chr15:100900678 [GRCh38]
Chr15:101440883 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.123C>G (p.His41Gln) single nucleotide variant ALDH1A3-related condition [RCV003943037]|Isolated microphthalmia 8 [RCV000951547] Chr15:100885290 [GRCh38]
Chr15:101425495 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.258G>A (p.Ser86=) single nucleotide variant ALDH1A3-related condition [RCV003913145]|not provided [RCV000929985] Chr15:100887625 [GRCh38]
Chr15:101427830 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.1408G>A (p.Ala470Thr) single nucleotide variant Isolated microphthalmia 8 [RCV002539362] Chr15:100908424 [GRCh38]
Chr15:101448629 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.708C>T (p.Phe236=) single nucleotide variant not provided [RCV000945775] Chr15:100895974 [GRCh38]
Chr15:101436179 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.1143C>T (p.Cys381=) single nucleotide variant Isolated microphthalmia 8 [RCV000898532] Chr15:100905597 [GRCh38]
Chr15:101445802 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.834G>A (p.Thr278=) single nucleotide variant not provided [RCV000891107] Chr15:100898136 [GRCh38]
Chr15:101438341 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.346-4G>A single nucleotide variant not provided [RCV000911597] Chr15:100892506 [GRCh38]
Chr15:101432711 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.1068+219C>T single nucleotide variant not provided [RCV001540225] Chr15:100900978 [GRCh38]
Chr15:101441183 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.204+151G>A single nucleotide variant not provided [RCV001562370] Chr15:100885522 [GRCh38]
Chr15:101425727 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.667-245C>T single nucleotide variant not provided [RCV001562573] Chr15:100895688 [GRCh38]
Chr15:101435893 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.566G>A (p.Trp189Ter) single nucleotide variant Isolated microphthalmia 8 [RCV003229645] Chr15:100893982 [GRCh38]
Chr15:101434187 [GRCh37]
Chr15:15q26.3		 pathogenic
NM_000693.4(ALDH1A3):c.204+43G>T single nucleotide variant not provided [RCV001709784] Chr15:100885414 [GRCh38]
Chr15:101425619 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.1391+105A>G single nucleotide variant not provided [RCV001676260] Chr15:100907383 [GRCh38]
Chr15:101447588 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.1069-287C>T single nucleotide variant not provided [RCV001549591] Chr15:100905236 [GRCh38]
Chr15:101445441 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.1466+96G>A single nucleotide variant not provided [RCV001618089] Chr15:100908578 [GRCh38]
Chr15:101448783 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.667-51G>A single nucleotide variant not provided [RCV001594094] Chr15:100895882 [GRCh38]
Chr15:101436087 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.*174G>A single nucleotide variant not provided [RCV001677642] Chr15:100914947 [GRCh38]
Chr15:101455152 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.*190A>G single nucleotide variant not provided [RCV001620024] Chr15:100914963 [GRCh38]
Chr15:101455168 [GRCh37]
Chr15:15q26.3		 benign
GRCh37/hg19 15q26.1-26.3(chr15:92335751-102399741)x1 copy number loss not provided [RCV001537887] Chr15:92335751..102399741 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
NM_000693.4(ALDH1A3):c.666+290dup duplication not provided [RCV001708053] Chr15:100894365..100894366 [GRCh38]
Chr15:101434570..101434571 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.*208C>T single nucleotide variant not provided [RCV001710751] Chr15:100914981 [GRCh38]
Chr15:101455186 [GRCh37]
Chr15:15q26.3		 benign
NC_000015.10:g.100879582G>A single nucleotide variant not provided [RCV001643801] Chr15:100879582 [GRCh38]
Chr15:101419787 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.709G>A (p.Gly237Arg) single nucleotide variant Isolated anophthalmia-microphthalmia syndrome [RCV001256183] Chr15:100895975 [GRCh38]
Chr15:101436180 [GRCh37]
Chr15:15q26.3		 pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:98275761-102358202)x1 copy number loss not provided [RCV001259819] Chr15:98275761..102358202 [GRCh37]
Chr15:15q26.2-26.3		 pathogenic
GRCh37/hg19 15q26.3(chr15:100853021-102429112)x1 copy number loss not provided [RCV001259829] Chr15:100853021..102429112 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_000693.4(ALDH1A3):c.287G>A (p.Arg96His) single nucleotide variant Isolated anophthalmia-microphthalmia syndrome [RCV001256182] Chr15:100887654 [GRCh38]
Chr15:101427859 [GRCh37]
Chr15:15q26.3		 pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1 copy number loss See cases [RCV001263026] Chr15:86962053..102531392 [GRCh37]
Chr15:15q25.3-26.3		 pathogenic
NM_000693.4(ALDH1A3):c.845G>T (p.Gly282Val) single nucleotide variant Isolated microphthalmia 8 [RCV002547642]|not provided [RCV001356696] Chr15:100898147 [GRCh38]
Chr15:101438352 [GRCh37]
Chr15:15q26.3		 likely pathogenic|uncertain significance
Single allele deletion Chromosome 15q26-qter deletion syndrome [RCV001391674] Chr15:99192811..101791668 [GRCh37]
Chr15:15q26.3		 likely pathogenic
NM_000693.4(ALDH1A3):c.538-4G>A single nucleotide variant Isolated microphthalmia 8 [RCV001446580] Chr15:100893950 [GRCh38]
Chr15:101434155 [GRCh37]
Chr15:15q26.3		 likely benign
NC_000015.10:g.100879640G>A single nucleotide variant not provided [RCV001646043] Chr15:100879640 [GRCh38]
Chr15:101419845 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.100-129G>A single nucleotide variant not provided [RCV001587128] Chr15:100885138 [GRCh38]
Chr15:101425343 [GRCh37]
Chr15:15q26.3		 likely benign
NC_000015.10:g.100879560T>A single nucleotide variant not provided [RCV001710195] Chr15:100879560 [GRCh38]
Chr15:101419765 [GRCh37]
Chr15:15q26.3		 benign
NM_000693.4(ALDH1A3):c.1398C>T (p.Asn466=) single nucleotide variant Isolated microphthalmia 8 [RCV001489972] Chr15:100908414 [GRCh38]
Chr15:101448619 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.884-2_885dup duplication Isolated microphthalmia 8 [RCV001808276] Chr15:100900572..100900573 [GRCh38]
Chr15:101440777..101440778 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_000693.4(ALDH1A3):c.439_458del (p.Trp147fs) deletion Isolated microphthalmia 8 [RCV001874973] Chr15:100892598..100892617 [GRCh38]
Chr15:101432803..101432822 [GRCh37]
Chr15:15q26.3		 pathogenic
NM_000693.4(ALDH1A3):c.617C>T (p.Ala206Val) single nucleotide variant Isolated microphthalmia 8 [RCV001929260] Chr15:100894033 [GRCh38]
Chr15:101434238 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q26.3(chr15:101333004-101549123)x3 copy number gain not provided [RCV001832907] Chr15:101333004..101549123 [GRCh37]
Chr15:15q26.3		 uncertain significance
NC_000015.9:g.(?_98947180)_(101791661_?)dup duplication not provided [RCV002004470] Chr15:98947180..101791661 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q26.2-26.3(chr15:97026327-102429112) copy number loss not specified [RCV002052490] Chr15:97026327..102429112 [GRCh37]
Chr15:15q26.2-26.3		 pathogenic
GRCh37/hg19 15q26.3(chr15:99258367-102429112) copy number loss not specified [RCV002052494] Chr15:99258367..102429112 [GRCh37]
Chr15:15q26.3		 pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:97223728-102429112) copy number loss not specified [RCV002052491] Chr15:97223728..102429112 [GRCh37]
Chr15:15q26.2-26.3		 pathogenic
NM_000693.4(ALDH1A3):c.99+15C>T single nucleotide variant Isolated microphthalmia 8 [RCV003655346]|not provided [RCV002211317] Chr15:100880021 [GRCh38]
Chr15:101420226 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.345+15T>C single nucleotide variant Isolated microphthalmia 8 [RCV002111477] Chr15:100887727 [GRCh38]
Chr15:101427932 [GRCh37]
Chr15:15q26.3		 benign
NC_000015.9:g.(?_101420113)_(101464954_?)dup duplication not provided [RCV003122686] Chr15:101420113..101464954 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_000693.4(ALDH1A3):c.874G>T (p.Asp292Tyr) single nucleotide variant Isolated microphthalmia 8 [RCV003229637] Chr15:100898176 [GRCh38]
Chr15:101438381 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_000693.4(ALDH1A3):c.1144G>A (p.Gly382Arg) single nucleotide variant Isolated microphthalmia 8 [RCV003229638] Chr15:100905598 [GRCh38]
Chr15:101445803 [GRCh37]
Chr15:15q26.3		 likely pathogenic
NM_000693.4(ALDH1A3):c.434C>T (p.Ala145Val) single nucleotide variant Isolated microphthalmia 8 [RCV003229639] Chr15:100892598 [GRCh38]
Chr15:101432803 [GRCh37]
Chr15:15q26.3		 likely pathogenic
NM_000693.4(ALDH1A3):c.845G>C (p.Gly282Ala) single nucleotide variant Isolated microphthalmia 8 [RCV003229641] Chr15:100898147 [GRCh38]
Chr15:101438352 [GRCh37]
Chr15:15q26.3		 likely pathogenic
NM_000693.4(ALDH1A3):c.1459A>G (p.Arg487Gly) single nucleotide variant Isolated microphthalmia 8 [RCV003229642] Chr15:100908475 [GRCh38]
Chr15:101448680 [GRCh37]
Chr15:15q26.3		 likely pathogenic
NM_000693.4(ALDH1A3):c.1444del (p.Met482fs) deletion Microphthalmia [RCV002277718] Chr15:100908457 [GRCh38]
Chr15:101448662 [GRCh37]
Chr15:15q26.3		 pathogenic
NM_000693.4(ALDH1A3):c.883+193A>C single nucleotide variant not provided [RCV002285606] Chr15:100898378 [GRCh38]
Chr15:101438583 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.1233+2T>C single nucleotide variant Isolated microphthalmia 8 [RCV003229647] Chr15:100905689 [GRCh38]
Chr15:101445894 [GRCh37]
Chr15:15q26.3		 pathogenic
NM_000693.4(ALDH1A3):c.847_849del (p.Gly283del) deletion Isolated microphthalmia 8 [RCV003229643] Chr15:100898145..100898147 [GRCh38]
Chr15:101438350..101438352 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_000693.4(ALDH1A3):c.953C>A (p.Ser318Tyr) single nucleotide variant Isolated microphthalmia 8 [RCV003229644] Chr15:100900644 [GRCh38]
Chr15:101440849 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_000693.4(ALDH1A3):c.550del (p.Leu184fs) deletion Isolated microphthalmia 8 [RCV002463472] Chr15:100893962 [GRCh38]
Chr15:101434167 [GRCh37]
Chr15:15q26.3		 pathogenic
NM_000693.4(ALDH1A3):c.1393A>T (p.Ile465Phe) single nucleotide variant Isolated microphthalmia 8 [RCV003229640] Chr15:100908409 [GRCh38]
Chr15:101448614 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_000693.4(ALDH1A3):c.502C>T (p.His168Tyr) single nucleotide variant Inborn genetic diseases [RCV002840053] Chr15:100892971 [GRCh38]
Chr15:101433176 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_000693.4(ALDH1A3):c.1068+14T>C single nucleotide variant Isolated microphthalmia 8 [RCV002731545] Chr15:100900773 [GRCh38]
Chr15:101440978 [GRCh37]
Chr15:15q26.3		 benign
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3 copy number gain not provided [RCV002475797] Chr15:77512817..102035027 [GRCh37]
Chr15:15q24.3-26.3		 pathogenic
NM_000693.4(ALDH1A3):c.1027G>A (p.Val343Met) single nucleotide variant Inborn genetic diseases [RCV002708294] Chr15:100900718 [GRCh38]
Chr15:101440923 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_000693.4(ALDH1A3):c.366A>G (p.Thr122=) single nucleotide variant Isolated microphthalmia 8 [RCV002640563] Chr15:100892530 [GRCh38]
Chr15:101432735 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.1021C>T (p.Arg341Trp) single nucleotide variant Inborn genetic diseases [RCV002827430] Chr15:100900712 [GRCh38]
Chr15:101440917 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_000693.4(ALDH1A3):c.1295C>T (p.Ala432Val) single nucleotide variant Inborn genetic diseases [RCV002699334] Chr15:100907182 [GRCh38]
Chr15:101447387 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_000693.4(ALDH1A3):c.361G>A (p.Asp121Asn) single nucleotide variant Isolated microphthalmia 8 [RCV002714941] Chr15:100892525 [GRCh38]
Chr15:101432730 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_000693.4(ALDH1A3):c.873G>A (p.Ala291=) single nucleotide variant Isolated microphthalmia 8 [RCV002633245] Chr15:100898175 [GRCh38]
Chr15:101438380 [GRCh37]
Chr15:15q26.3		 likely benign|uncertain significance
NM_000693.4(ALDH1A3):c.1385C>T (p.Thr462Met) single nucleotide variant Inborn genetic diseases [RCV003196275] Chr15:100907272 [GRCh38]
Chr15:101447477 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3 copy number gain not provided [RCV003222840] Chr15:84228005..102264590 [GRCh37]
Chr15:15q25.2-26.3		 pathogenic
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 copy number gain See cases [RCV003329502] Chr15:75165490..102520892 [GRCh37]
Chr15:15q24.1-26.3		 pathogenic
NM_000693.4(ALDH1A3):c.1527C>G (p.Asp509Glu) single nucleotide variant Inborn genetic diseases [RCV003343255] Chr15:100914761 [GRCh38]
Chr15:101454966 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_000693.4(ALDH1A3):c.26A>T (p.Glu9Val) single nucleotide variant Inborn genetic diseases [RCV003349617] Chr15:100879933 [GRCh38]
Chr15:101420138 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_000693.4(ALDH1A3):c.99+132C>G single nucleotide variant not provided [RCV003395064] Chr15:100880138 [GRCh38]
Chr15:101420343 [GRCh37]
Chr15:15q26.3		 likely benign
Single allele deletion not provided [RCV003448683] Chr15:98565904..102400021 [GRCh37]
Chr15:15q26.3		 pathogenic
NM_000693.4(ALDH1A3):c.966G>A (p.Val322=) single nucleotide variant Isolated microphthalmia 8 [RCV003848874] Chr15:100900657 [GRCh38]
Chr15:101440862 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.865G>A (p.Val289Met) single nucleotide variant Isolated microphthalmia 8 [RCV003487103] Chr15:100898167 [GRCh38]
Chr15:101438372 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_000693.4(ALDH1A3):c.432T>C (p.Phe144=) single nucleotide variant Isolated microphthalmia 8 [RCV003654606] Chr15:100892596 [GRCh38]
Chr15:101432801 [GRCh37]
Chr15:15q26.3		 likely benign
GRCh37/hg19 15q26.3(chr15:98679543-102429112)x1 copy number loss not specified [RCV003987093] Chr15:98679543..102429112 [GRCh37]
Chr15:15q26.3		 pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:94300072-101810099)x1 copy number loss not specified [RCV003987112] Chr15:94300072..101810099 [GRCh37]
Chr15:15q26.2-26.3		 pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:94176550-102429112)x3 copy number gain not specified [RCV003987113] Chr15:94176550..102429112 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
NM_000693.4(ALDH1A3):c.1105A>T (p.Ile369Phe) single nucleotide variant Isolated microphthalmia 8 [RCV003988731] Chr15:100905559 [GRCh38]
Chr15:101445764 [GRCh37]
Chr15:15q26.3		 likely pathogenic
NM_000693.4(ALDH1A3):c.781-6C>T single nucleotide variant ALDH1A3-related condition [RCV003931522] Chr15:100898077 [GRCh38]
Chr15:101438282 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.333C>T (p.Arg111=) single nucleotide variant ALDH1A3-related condition [RCV003899484] Chr15:100887700 [GRCh38]
Chr15:101427905 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.1458C>T (p.Gly486=) single nucleotide variant ALDH1A3-related condition [RCV003924553] Chr15:100908474 [GRCh38]
Chr15:101448679 [GRCh37]
Chr15:15q26.3		 likely benign
NM_000693.4(ALDH1A3):c.99+7C>A single nucleotide variant ALDH1A3-related condition [RCV003916901] Chr15:100880013 [GRCh38]
Chr15:101420218 [GRCh37]
Chr15:15q26.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2931
Count of miRNA genes:1046
Interacting mature miRNAs:1274
Transcripts:ENST00000329841, ENST00000346623, ENST00000557963, ENST00000558033, ENST00000558568, ENST00000558869, ENST00000560555, ENST00000561338
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.

Markers in Region
SHGC-154796  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3715101,429,926 - 101,430,218UniSTSGRCh37
Build 361599,247,449 - 99,247,741RGDNCBI36
Celera1577,842,854 - 77,843,146RGD
Cytogenetic Map15q26.3UniSTS
HuRef1577,552,346 - 77,552,638UniSTS
ALDH1A3_289  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3715101,455,975 - 101,456,835UniSTSGRCh37
Build 361599,273,498 - 99,274,358RGDNCBI36
Celera1577,869,314 - 77,870,174RGD
HuRef1577,577,870 - 77,578,730UniSTS
RH48812  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3715101,432,308 - 101,432,467UniSTSGRCh37
Build 361599,249,831 - 99,249,990RGDNCBI36
Celera1577,845,236 - 77,845,395RGD
Cytogenetic Map15q26.3UniSTS
HuRef1577,554,728 - 77,554,887UniSTS
GeneMap99-GB4 RH Map15349.85UniSTS
RH66397  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3715101,456,713 - 101,456,796UniSTSGRCh37
Build 361599,274,236 - 99,274,319RGDNCBI36
Celera1577,870,052 - 77,870,135RGD
Cytogenetic Map15q26.3UniSTS
HuRef1577,578,608 - 77,578,691UniSTS
GeneMap99-GB4 RH Map15349.85UniSTS
D15S1345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3715101,455,105 - 101,455,317UniSTSGRCh37
Build 361599,272,628 - 99,272,840RGDNCBI36
Celera1577,868,444 - 77,868,656RGD
Cytogenetic Map15q26.3UniSTS
HuRef1577,577,000 - 77,577,212UniSTS


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
High 1 2 6 1 3 6
Medium 993 134 114 172 143 17 929 451 563 95 705 284 165 838 512 1
Low 1413 1773 1379 293 504 290 3214 1483 3025 292 703 1210 4 366 2115 3
Below cutoff 19 939 208 142 1036 142 206 253 108 28 33 82 1 161

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000329841   ⟹   ENSP00000332256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15100,879,831 - 100,916,626 (+)Ensembl
RefSeq Acc Id: ENST00000346623   ⟹   ENSP00000343294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15100,879,875 - 100,916,626 (+)Ensembl
RefSeq Acc Id: ENST00000557963   ⟹   ENSP00000453328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15100,879,839 - 100,881,508 (+)Ensembl
RefSeq Acc Id: ENST00000558033   ⟹   ENSP00000454107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15100,879,813 - 100,896,014 (+)Ensembl
RefSeq Acc Id: ENST00000558869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15100,898,060 - 100,907,230 (+)Ensembl
RefSeq Acc Id: ENST00000560555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15100,879,848 - 100,892,239 (+)Ensembl
RefSeq Acc Id: ENST00000561338   ⟹   ENSP00000452789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15100,877,714 - 100,892,987 (+)Ensembl
RefSeq Acc Id: NM_000693   ⟹   NP_000684
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3815100,879,831 - 100,916,626 (+)NCBI
GRCh3715101,419,897 - 101,456,831 (+)NCBI
Build 361599,237,532 - 99,274,354 (+)NCBI Archive
HuRef1577,542,416 - 77,578,726 (+)ENTREZGENE
CHM1_115101,260,872 - 101,297,814 (+)NCBI
T2T-CHM13v2.01598,634,889 - 98,671,163 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001293815   ⟹   NP_001280744
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3815100,879,831 - 100,916,626 (+)NCBI
CHM1_115101,260,872 - 101,297,814 (+)NCBI
T2T-CHM13v2.01598,634,889 - 98,671,163 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_000684   ⟸   NM_000693
- Peptide Label: isoform 1
- UniProtKB: Q6NT64 (UniProtKB/Swiss-Prot),   P47895 (UniProtKB/Swiss-Prot),   B2R5T2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001280744   ⟸   NM_001293815
- Peptide Label: isoform 2
- UniProtKB: H0Y2X5 (UniProtKB/TrEMBL),   Q7Z3A2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000343294   ⟸   ENST00000346623
RefSeq Acc Id: ENSP00000453328   ⟸   ENST00000557963
RefSeq Acc Id: ENSP00000454107   ⟸   ENST00000558033
RefSeq Acc Id: ENSP00000452789   ⟸   ENST00000561338
RefSeq Acc Id: ENSP00000332256   ⟸   ENST00000329841
Protein Domains
Aldehyde dehydrogenase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P47895-F1-model_v2 AlphaFold P47895 1-512 view protein structure

Promoters
RGD ID:6792087
Promoter ID:HG_KWN:22483
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000313620,   UC010BPA.1,   UC010BPB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361599,237,116 - 99,237,616 (+)MPROMDB
RGD ID:7230681
Promoter ID:EPDNEW_H21087
Type:initiation region
Name:ALDH1A3_1
Description:aldehyde dehydrogenase 1 family member A3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3815100,879,831 - 100,879,891EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:409 AgrOrtholog
COSMIC ALDH1A3 COSMIC
Ensembl Genes ENSG00000184254 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000329841 ENTREZGENE
  ENST00000329841.10 UniProtKB/Swiss-Prot
  ENST00000346623 ENTREZGENE
  ENST00000346623.6 UniProtKB/TrEMBL
  ENST00000557963.1 UniProtKB/TrEMBL
  ENST00000558033.5 UniProtKB/TrEMBL
  ENST00000561338.5 UniProtKB/TrEMBL
GTEx ENSG00000184254 GTEx
HGNC ID HGNC:409 ENTREZGENE
Human Proteome Map ALDH1A3 Human Proteome Map
InterPro Ald_DH/histidinol_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_DH_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_DH_CS_CYS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_DH_CS_GLU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_DH_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aldehyde_DH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:220 UniProtKB/Swiss-Prot
NCBI Gene 220 ENTREZGENE
OMIM 600463 OMIM
PANTHER ALDEHYDE DEHYDROGENASE FAMILY 1 MEMBER A3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ALDEHYDE DEHYDROGENASE-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Aldedh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24694 PharmGKB
PROSITE ALDEHYDE_DEHYDR_CYS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ALDEHYDE_DEHYDR_GLU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53720 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt AL1A3_HUMAN UniProtKB/Swiss-Prot
  B2R5T2 ENTREZGENE, UniProtKB/TrEMBL
  H0Y2X5 ENTREZGENE, UniProtKB/TrEMBL
  H0YKF9_HUMAN UniProtKB/TrEMBL
  H0YLT1_HUMAN UniProtKB/TrEMBL
  H0YNQ3_HUMAN UniProtKB/TrEMBL
  P47895 ENTREZGENE
  Q6NT64 ENTREZGENE
  Q7Z3A2 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q6NT64 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 ALDH1A3  aldehyde dehydrogenase 1 family member A3  ALDH1A3  aldehyde dehydrogenase 1 family, member A3  Symbol and/or name change 5135510 APPROVED