ALDH7A1 (aldehyde dehydrogenase 7 family member A1) - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: ALDH7A1 (aldehyde dehydrogenase 7 family member A1) Homo sapiens
Analyze
Symbol: ALDH7A1
Name: aldehyde dehydrogenase 7 family member A1
RGD ID: 1318489
HGNC Page HGNC
Description: Exhibits identical protein binding activity. Predicted to be involved in cellular aldehyde metabolic process. Localizes to cytosol and mitochondrion. Implicated in pyridoxine-dependent epilepsy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 26g turgor protein homolog; aldehyde dehydrogenase 7 family, member A1; aldehyde dehydrogenase family 7 member A1; alpha-AASA dehydrogenase; alpha-aminoadipic semialdehyde dehydrogenase; antiquitin 1; antiquitin-1; ATQ1; betaine aldehyde dehydrogenase; delta1-piperideine-6-carboxylate dehydrogenase; delta1-piperideine-6-carboxylate dehydrogenease; EPD; FLJ11738; FLJ92814; P6c dehydrogenase; PDE
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: ALDH7A1P1   ALDH7A1P2   ALDH7A1P3   ALDH7A1P4  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl5126,531,200 - 126,595,362 (-)EnsemblGRCh38hg38GRCh38
GRCh385126,541,841 - 126,595,219 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh375125,877,533 - 125,930,911 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh375125,877,533 - 125,931,104 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365125,908,344 - 125,958,839 (-)NCBINCBI36hg18NCBI36
Build 345125,908,347 - 125,958,756NCBI
Cytogenetic Map5q23.2NCBI
HuRef5121,068,235 - 121,122,325 (-)NCBIHuRef
CHM1_15125,309,919 - 125,363,679 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrabromodibenzodioxine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (EXP)
4-hydroxynon-2-enal  (EXP)
acetaldehyde  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
allysine  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (ISO)
Benzo[ghi]perylene  (ISO)
biochanin A  (EXP)
bisphenol A  (EXP,ISO)
Brodifacoum  (ISO)
butanal  (EXP)
butylated hydroxyanisole  (ISO)
cadmium dichloride  (EXP)
captan  (ISO)
carbon nanotube  (ISO)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dihydroartemisinin  (EXP)
dioscin  (ISO)
doxorubicin  (EXP)
ethanol  (ISO)
fipronil  (ISO)
flurbiprofen  (ISO)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
furan  (ISO)
gentamycin  (ISO)
hexanal  (EXP)
hydrogen peroxide  (EXP)
isobutanol  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
methylmercury chloride  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosomorpholine  (ISO)
ochratoxin A  (EXP)
oxaliplatin  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
pentanal  (EXP)
perfluorooctanoic acid  (EXP)
phlorizin  (ISO)
pirinixic acid  (EXP)
potassium dichromate  (ISO)
Propiverine  (ISO)
quercetin  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
topotecan  (ISO)
troglitazone  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)

References

Additional References at PubMed
PMID:8088832   PMID:9417906   PMID:10978228   PMID:12477932   PMID:12766061   PMID:14702039   PMID:15489334   PMID:16159904   PMID:16169070   PMID:16344560   PMID:16491085   PMID:17068770  
PMID:17088338   PMID:17433748   PMID:17721876   PMID:18029348   PMID:18717709   PMID:18854520   PMID:19128417   PMID:19142996   PMID:19294602   PMID:19885858   PMID:20072603   PMID:20207735  
PMID:20301659   PMID:20512086   PMID:20562859   PMID:20639122   PMID:20814824   PMID:20877624   PMID:21185811   PMID:21338592   PMID:21647815   PMID:21832049   PMID:21873635   PMID:21988832  
PMID:22249334   PMID:22305855   PMID:22784480   PMID:22863883   PMID:23054014   PMID:23376216   PMID:23376485   PMID:23533145   PMID:23647301   PMID:23683770   PMID:24122892   PMID:24664145  
PMID:25213698   PMID:26186194   PMID:26224730   PMID:26232297   PMID:26260980   PMID:26344197   PMID:26496610   PMID:26555630   PMID:26760575   PMID:27186704   PMID:27342126   PMID:28065597  
PMID:28087462   PMID:28131559   PMID:28514442   PMID:28718761   PMID:29045138   PMID:29061647   PMID:29128334   PMID:29229926   PMID:29467282   PMID:30005813   PMID:30021884   PMID:30043187  
PMID:30184263   PMID:30486822   PMID:30619736   PMID:30767241   PMID:31091453   PMID:31492851   PMID:31536960   PMID:31586073   PMID:32296183   PMID:33060197  


Genomics

Comparative Map Data
ALDH7A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl5126,531,200 - 126,595,362 (-)EnsemblGRCh38hg38GRCh38
GRCh385126,541,841 - 126,595,219 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh375125,877,533 - 125,930,911 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh375125,877,533 - 125,931,104 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365125,908,344 - 125,958,839 (-)NCBINCBI36hg18NCBI36
Build 345125,908,347 - 125,958,756NCBI
Cytogenetic Map5q23.2NCBI
HuRef5121,068,235 - 121,122,325 (-)NCBIHuRef
CHM1_15125,309,919 - 125,363,679 (-)NCBICHM1_1
Aldh7a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391856,657,794 - 56,706,112 (-)NCBIGRCm39mm39
GRCm381856,524,722 - 56,572,991 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1856,509,687 - 56,572,951 (-)EnsemblGRCm38mm10GRCm38
MGSCv371856,685,390 - 56,732,593 (-)NCBIGRCm37mm9NCBIm37
MGSCv361856,651,105 - 56,698,241 (-)NCBImm8
Celera1857,828,935 - 57,877,977 (-)NCBICelera
Cytogenetic Map18D3NCBI
cM Map1830.55NCBI
Aldh7a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21850,003,242 - 50,042,193 (-)NCBI
Rnor_6.0 Ensembl1851,619,007 - 51,651,267 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01851,619,007 - 51,651,267 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01850,814,203 - 50,846,463 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41852,300,899 - 52,333,149 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11852,346,394 - 52,378,655 (-)NCBI
Celera1848,155,257 - 48,187,477 (-)NCBICelera
Cytogenetic Map18q12.1NCBI
Aldh7a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555214,364,638 - 4,396,129 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555214,365,075 - 4,396,105 (-)NCBIChiLan1.0ChiLan1.0
ALDH7A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.15127,718,978 - 127,771,047 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v05121,946,527 - 122,000,273 (-)NCBIMhudiblu_PPA_v0panPan3
ALDH7A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1115,815,936 - 15,878,516 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11115,828,581 - 15,878,556 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Aldh7a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365756,467,224 - 6,506,052 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ALDH7A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2129,662,296 - 129,713,729 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12129,663,226 - 129,709,728 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22134,953,156 - 134,988,290 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ALDH7A1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12329,539,897 - 29,589,004 (-)NCBI
Aldh7a1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477415,048,825 - 15,099,443 (+)NCBI

Position Markers
D5S1972  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3768,496,291 - 8,496,414UniSTSGRCh37
GRCh375142,342,680 - 142,342,863UniSTSGRCh37
Build 365142,322,864 - 142,323,047RGDNCBI36
Celera5138,423,987 - 138,424,156RGD
Celera69,725,593 - 9,725,716UniSTS
Cytogenetic Map5q31UniSTS
HuRef5137,490,128 - 137,490,343UniSTS
HuRef68,373,648 - 8,373,771UniSTS
Marshfield Genetic Map5146.73RGD
Marshfield Genetic Map5146.73UniSTS
Genethon Genetic Map5146.5UniSTS
TNG Radiation Hybrid Map566507.0UniSTS
Whitehead-YAC Contig Map5 UniSTS
D5S2017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375141,733,405 - 141,733,505UniSTSGRCh37
Build 365141,713,589 - 141,713,689RGDNCBI36
Celera5137,814,675 - 137,814,773RGD
Cytogenetic Map5q31.1-q32UniSTS
Cytogenetic Map5q31UniSTS
HuRef5136,879,525 - 136,879,623UniSTS
Marshfield Genetic Map5145.21RGD
Marshfield Genetic Map5145.21UniSTS
Genethon Genetic Map5144.8UniSTS
Whitehead-YAC Contig Map5 UniSTS
RH78357  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375125,877,593 - 125,877,763UniSTSGRCh37
Build 365125,905,492 - 125,905,662RGDNCBI36
Celera5121,834,088 - 121,834,259RGD
Cytogenetic Map5q31UniSTS
HuRef5121,068,295 - 121,068,466UniSTS
GeneMap99-GB4 RH Map5504.51UniSTS
RH65314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375125,879,787 - 125,879,963UniSTSGRCh37
Build 365125,907,686 - 125,907,862RGDNCBI36
Cytogenetic Map5q31UniSTS
HuRef1616,762,108 - 16,762,482UniSTS
HuRef5121,070,490 - 121,070,666UniSTS
GeneMap99-GB4 RH Map5499.85UniSTS
D5S2646  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375125,878,962 - 125,879,096UniSTSGRCh37
Build 365125,906,861 - 125,906,995RGDNCBI36
Cytogenetic Map5q31UniSTS
HuRef5121,069,664 - 121,069,798UniSTS
GeneMap99-G3 RH Map54951.0UniSTS
AFMa128xh5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,076,002 - 145,076,148UniSTSGRCh37
GRCh375125,917,821 - 125,918,322UniSTSGRCh37
Build 368145,147,990 - 145,148,136RGDNCBI36
Celera5121,874,467 - 121,874,968UniSTS
Cytogenetic Map5q31UniSTS
HuRef8140,332,056 - 140,332,202UniSTS
Whitehead-RH Map8724.6UniSTS
D5S2464  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37576,587,583 - 76,587,781UniSTSGRCh37
GRCh375125,880,503 - 125,880,702UniSTSGRCh37
Build 365125,908,402 - 125,908,601RGDNCBI36
Celera572,481,813 - 72,482,011RGD
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q13.3UniSTS
Cytogenetic Map5q31UniSTS
HuRef5121,071,206 - 121,071,405UniSTS
HuRef571,794,037 - 71,794,235UniSTS
GeneMap99-GB4 RH Map5370.82UniSTS
Whitehead-RH Map5270.0UniSTS
Whitehead-YAC Contig Map5 UniSTS
NCBI RH Map5363.9UniSTS
RH47147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37576,587,455 - 76,587,556UniSTSGRCh37
Build 36576,623,211 - 76,623,312RGDNCBI36
Celera572,481,685 - 72,481,786RGD
Cytogenetic Map5q31UniSTS
Cytogenetic Map5q13.3UniSTS
Cytogenetic Map5q14UniSTS
HuRef571,793,909 - 71,794,010UniSTS
GeneMap99-GB4 RH Map5371.12UniSTS
D5S1933  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375125,880,536 - 125,880,631UniSTSGRCh37
Build 365125,908,435 - 125,908,530RGDNCBI36
Cytogenetic Map5q31UniSTS
HuRef5121,071,239 - 121,071,334UniSTS
GeneMap99-GB4 RH Map5505.63UniSTS
D5S2596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37576,587,528 - 76,587,670UniSTSGRCh37
GRCh375125,880,615 - 125,882,061UniSTSGRCh37
Build 36576,623,284 - 76,623,426RGDNCBI36
Celera572,481,758 - 72,481,900RGD
Cytogenetic Map5q31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q13.3UniSTS
HuRef571,793,982 - 71,794,124UniSTS
HuRef5121,071,318 - 121,072,780UniSTS
Stanford-G3 RH Map52779.0UniSTS
GeneMap99-G3 RH Map52774.0UniSTS
SGC30136  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375125,900,159 - 125,900,284UniSTSGRCh37
Build 365125,928,058 - 125,928,183RGDNCBI36
Celera5121,857,045 - 121,857,170RGD
Cytogenetic Map5q31UniSTS
HuRef5121,090,861 - 121,090,986UniSTS
GeneMap99-GB4 RH Map5509.72UniSTS
Whitehead-RH Map5409.4UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
D17S1239  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p24UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map15q22UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3280
Count of miRNA genes:1208
Interacting mature miRNAs:1537
Transcripts:ENST00000409134, ENST00000412186, ENST00000413020, ENST00000433026, ENST00000447989, ENST00000458249, ENST00000476328, ENST00000479989, ENST00000485852, ENST00000497231, ENST00000503281, ENST00000509270, ENST00000509459, ENST00000510111, ENST00000511266, ENST00000553117
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 606 1010 1369 525 56 382 2801 205 3062 340 1167 1107 159 1 380 1711 6 2
Low 1831 1238 357 99 974 83 1553 1974 669 74 287 490 16 824 1077
Below cutoff 1 739 838 1 16 2 3 3 11

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001201377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001202404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC093535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF002696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI039375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU135961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG680326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU153725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD678674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB501575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC375277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ900979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S74728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000409134   ⟹   ENSP00000387123
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,541,841 - 126,595,219 (-)Ensembl
RefSeq Acc Id: ENST00000412186   ⟹   ENSP00000414536
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,575,436 - 126,595,198 (-)Ensembl
RefSeq Acc Id: ENST00000413020   ⟹   ENSP00000487936
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,564,358 - 126,595,218 (-)Ensembl
RefSeq Acc Id: ENST00000433026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,564,376 - 126,580,090 (-)Ensembl
RefSeq Acc Id: ENST00000458249   ⟹   ENSP00000403929
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,544,785 - 126,595,232 (-)Ensembl
RefSeq Acc Id: ENST00000476328
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,549,892 - 126,552,102 (-)Ensembl
RefSeq Acc Id: ENST00000479989
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,582,953 - 126,594,439 (-)Ensembl
RefSeq Acc Id: ENST00000485852
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,544,753 - 126,550,164 (-)Ensembl
RefSeq Acc Id: ENST00000497231
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,544,757 - 126,562,422 (-)Ensembl
RefSeq Acc Id: ENST00000503281   ⟹   ENSP00000488032
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,550,263 - 126,595,112 (-)Ensembl
RefSeq Acc Id: ENST00000509270   ⟹   ENSP00000449318
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,577,082 - 126,595,225 (-)Ensembl
RefSeq Acc Id: ENST00000509459   ⟹   ENSP00000487998
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,555,995 - 126,595,071 (-)Ensembl
RefSeq Acc Id: ENST00000510111   ⟹   ENSP00000447388
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,568,324 - 126,595,192 (-)Ensembl
RefSeq Acc Id: ENST00000511266
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,568,040 - 126,594,318 (-)Ensembl
RefSeq Acc Id: ENST00000553117   ⟹   ENSP00000448593
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,544,596 - 126,595,336 (-)Ensembl
RefSeq Acc Id: ENST00000635851   ⟹   ENSP00000490819
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,540,417 - 126,595,196 (-)Ensembl
RefSeq Acc Id: ENST00000635858
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,591,928 - 126,594,138 (-)Ensembl
RefSeq Acc Id: ENST00000635933
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,586,127 - 126,595,227 (-)Ensembl
RefSeq Acc Id: ENST00000636062
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,549,504 - 126,595,093 (-)Ensembl
RefSeq Acc Id: ENST00000636190
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,581,189 - 126,595,077 (-)Ensembl
RefSeq Acc Id: ENST00000636225   ⟹   ENSP00000490797
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,546,345 - 126,595,214 (-)Ensembl
RefSeq Acc Id: ENST00000636286
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,544,919 - 126,584,392 (-)Ensembl
RefSeq Acc Id: ENST00000636482
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,544,782 - 126,561,482 (-)Ensembl
RefSeq Acc Id: ENST00000636743   ⟹   ENSP00000489725
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,544,154 - 126,595,219 (-)Ensembl
RefSeq Acc Id: ENST00000636808   ⟹   ENSP00000490833
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,544,153 - 126,595,362 (-)Ensembl
RefSeq Acc Id: ENST00000636872   ⟹   ENSP00000490919
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,543,998 - 126,595,198 (-)Ensembl
RefSeq Acc Id: ENST00000636879   ⟹   ENSP00000490811
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,544,150 - 126,595,219 (-)Ensembl
RefSeq Acc Id: ENST00000636886   ⟹   ENSP00000490371
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,544,090 - 126,595,225 (-)Ensembl
RefSeq Acc Id: ENST00000636892
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,567,810 - 126,571,137 (-)Ensembl
RefSeq Acc Id: ENST00000637070
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,582,779 - 126,583,938 (-)Ensembl
RefSeq Acc Id: ENST00000637206   ⟹   ENSP00000489895
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,544,010 - 126,595,269 (-)Ensembl
RefSeq Acc Id: ENST00000637272   ⟹   ENSP00000489686
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,544,043 - 126,595,219 (-)Ensembl
RefSeq Acc Id: ENST00000637292   ⟹   ENSP00000490655
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,544,819 - 126,583,977 (-)Ensembl
RefSeq Acc Id: ENST00000637782   ⟹   ENSP00000490024
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,531,200 - 126,595,219 (-)Ensembl
RefSeq Acc Id: ENST00000637964   ⟹   ENSP00000490291
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,554,388 - 126,595,218 (-)Ensembl
RefSeq Acc Id: ENST00000638008   ⟹   ENSP00000490400
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,544,829 - 126,595,229 (-)Ensembl
RefSeq Acc Id: ENST00000638010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5126,544,776 - 126,555,432 (-)Ensembl
RefSeq Acc Id: NM_001182   ⟹   NP_001173
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385126,541,841 - 126,595,219 (-)NCBI
GRCh375125,877,533 - 125,931,104 (-)NCBI
Build 365125,908,344 - 125,958,839 (-)NCBI Archive
HuRef5121,068,235 - 121,122,325 (-)ENTREZGENE
CHM1_15125,309,919 - 125,363,679 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001201377   ⟹   NP_001188306
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385126,541,841 - 126,595,219 (-)NCBI
GRCh375125,877,533 - 125,931,104 (-)NCBI
HuRef5121,068,235 - 121,122,325 (-)ENTREZGENE
CHM1_15125,309,919 - 125,363,679 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001202404   ⟹   NP_001189333
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385126,541,841 - 126,595,219 (-)NCBI
GRCh375125,877,533 - 125,931,104 (-)NCBI
HuRef5121,068,235 - 121,122,325 (-)ENTREZGENE
CHM1_15125,309,919 - 125,363,679 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001189333   ⟸   NM_001202404
- Peptide Label: isoform 3
- UniProtKB: P49419 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001173   ⟸   NM_001182
- Peptide Label: isoform 1 precursor
- UniProtKB: P49419 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001188306   ⟸   NM_001201377
- Peptide Label: isoform 2
- UniProtKB: P49419 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000488032   ⟸   ENST00000503281
RefSeq Acc Id: ENSP00000490819   ⟸   ENST00000635851
RefSeq Acc Id: ENSP00000490797   ⟸   ENST00000636225
RefSeq Acc Id: ENSP00000414536   ⟸   ENST00000412186
RefSeq Acc Id: ENSP00000490371   ⟸   ENST00000636886
RefSeq Acc Id: ENSP00000490919   ⟸   ENST00000636872
RefSeq Acc Id: ENSP00000490811   ⟸   ENST00000636879
RefSeq Acc Id: ENSP00000490833   ⟸   ENST00000636808
RefSeq Acc Id: ENSP00000489725   ⟸   ENST00000636743
RefSeq Acc Id: ENSP00000489686   ⟸   ENST00000637272
RefSeq Acc Id: ENSP00000490655   ⟸   ENST00000637292
RefSeq Acc Id: ENSP00000489895   ⟸   ENST00000637206
RefSeq Acc Id: ENSP00000490291   ⟸   ENST00000637964
RefSeq Acc Id: ENSP00000490024   ⟸   ENST00000637782
RefSeq Acc Id: ENSP00000487936   ⟸   ENST00000413020
RefSeq Acc Id: ENSP00000490400   ⟸   ENST00000638008
RefSeq Acc Id: ENSP00000449318   ⟸   ENST00000509270
RefSeq Acc Id: ENSP00000487998   ⟸   ENST00000509459
RefSeq Acc Id: ENSP00000403929   ⟸   ENST00000458249
RefSeq Acc Id: ENSP00000447388   ⟸   ENST00000510111
RefSeq Acc Id: ENSP00000387123   ⟸   ENST00000409134
RefSeq Acc Id: ENSP00000448593   ⟸   ENST00000553117
Protein Domains
Aldedh

Promoters
RGD ID:6802846
Promoter ID:HG_KWN:50952
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000330457
Position:
Human AssemblyChrPosition (strand)Source
Build 365125,957,811 - 125,958,311 (-)MPROMDB
RGD ID:6802847
Promoter ID:HG_KWN:50953
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Lymphoblastoid
Transcripts:ENST00000409134,   OTTHUMT00000330456,   OTTHUMT00000330458,   UC003KTY.2,   UC003KTZ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 365125,958,524 - 125,959,024 (-)MPROMDB
RGD ID:6850572
Promoter ID:EP73077
Type:initiation region
Name:HS_ALDH7A1
Description:Aldehyde dehydrogenase 7 family, member A1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 365125,958,789 - 125,958,849EPD
RGD ID:6870414
Promoter ID:EPDNEW_H8372
Type:initiation region
Name:ALDH7A1_1
Description:aldehyde dehydrogenase 7 family member A1
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
GRCh385126,595,219 - 126,595,279EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001182.5(ALDH7A1):c.246+1G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000791513]|not provided [RCV000519378] Chr5:126593350 [GRCh38]
Chr5:125929042 [GRCh37]
Chr5:5q23.2
pathogenic|likely pathogenic
NM_001182.5(ALDH7A1):c.796C>T (p.Arg266Ter) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000553088]|not provided [RCV000760371] Chr5:126568334 [GRCh38]
Chr5:125904026 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000019610]|Seizures [RCV000718443]|not provided [RCV000186744] Chr5:126552059 [GRCh38]
Chr5:125887751 [GRCh37]
Chr5:5q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000019611]|Seizures [RCV000415171]|not provided [RCV000480396] Chr5:126583997 [GRCh38]
Chr5:125919689 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.518-1G>C single nucleotide variant Pyridoxine-dependent epilepsy [RCV000019612] Chr5:126577212 [GRCh38]
Chr5:125912904 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.312+2T>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000019613] Chr5:126592662 [GRCh38]
Chr5:125928354 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.596C>T (p.Ala199Val) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000019614] Chr5:126577133 [GRCh38]
Chr5:125912825 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs) deletion Pyridoxine-dependent epilepsy [RCV000019615]|not provided [RCV001092771] Chr5:126544988 [GRCh38]
Chr5:125880680 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.1224T>G (p.Tyr408Ter) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000019616]|not provided [RCV000255947] Chr5:126552114 [GRCh38]
Chr5:125887806 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.902A>T (p.Asn301Ile) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000019617] Chr5:126561094 [GRCh38]
Chr5:125896786 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000019618]|not provided [RCV000255917] Chr5:126568296 [GRCh38]
Chr5:125903988 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.1317+2T>C single nucleotide variant not provided [RCV000728493] Chr5:126552019 [GRCh38]
Chr5:125887711 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.979G>A (p.Gly327Ser) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001204101]|not provided [RCV000519014] Chr5:126559269 [GRCh38]
Chr5:125894961 [GRCh37]
Chr5:5q23.2
likely pathogenic|uncertain significance
GRCh38/hg38 5q23.1-23.2(chr5:120739630-126823984)x1 copy number loss See cases [RCV000052108] Chr5:120739630..126823984 [GRCh38]
Chr5:120075325..126159676 [GRCh37]
Chr5:120103224..126187575 [NCBI36]
Chr5:5q23.1-23.2
pathogenic
GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1 copy number loss See cases [RCV000052109] Chr5:126438406..132873967 [GRCh38]
Chr5:125774098..132209659 [GRCh37]
Chr5:125801997..132237558 [NCBI36]
Chr5:5q23.2-31.1
pathogenic
GRCh38/hg38 5q23.2-23.3(chr5:126458947-128537986)x1 copy number loss See cases [RCV000052110] Chr5:126458947..128537986 [GRCh38]
Chr5:125794639..127873679 [GRCh37]
Chr5:125822538..127901578 [NCBI36]
Chr5:5q23.2-23.3
pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2
pathogenic
GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1 copy number loss See cases [RCV000053525] Chr5:116677122..132686163 [GRCh38]
Chr5:116012818..132021855 [GRCh37]
Chr5:116040717..132049754 [NCBI36]
Chr5:5q23.1-31.1
pathogenic
NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000287846]|Seizures [RCV000718139]|not specified [RCV000116309] Chr5:126552104 [GRCh38]
Chr5:125887796 [GRCh37]
Chr5:5q23.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001182.5(ALDH7A1):c.1315A>C (p.Lys439Gln) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000382229]|Seizures [RCV000715434]|not specified [RCV000116310] Chr5:126552023 [GRCh38]
Chr5:125887715 [GRCh37]
Chr5:5q23.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001182.5(ALDH7A1):c.273T>C (p.Thr91=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000314887]|Seizures [RCV000715331]|not specified [RCV000116311] Chr5:126592703 [GRCh38]
Chr5:125928395 [GRCh37]
Chr5:5q23.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001182.5(ALDH7A1):c.373A>G (p.Ile125Val) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000204650]|Seizures [RCV000718895]|not specified [RCV000116312] Chr5:126583952 [GRCh38]
Chr5:125919644 [GRCh37]
Chr5:5q23.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001182.5(ALDH7A1):c.675C>T (p.Leu225=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000378824]|Seizures [RCV000716237]|not specified [RCV000116313] Chr5:126575440 [GRCh38]
Chr5:125911132 [GRCh37]
Chr5:5q23.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001182.5(ALDH7A1):c.615C>T (p.Asn205=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000284381]|Seizures [RCV000717580]|not specified [RCV000123614] Chr5:126577114 [GRCh38]
Chr5:125912806 [GRCh37]
Chr5:5q23.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001182.5(ALDH7A1):c.193-20C>T single nucleotide variant not specified [RCV000123616] Chr5:126593424 [GRCh38]
Chr5:125929116 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.243A>G (p.Arg81=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000475040]|Seizures [RCV000717304]|not specified [RCV000123617] Chr5:126593354 [GRCh38]
Chr5:125929046 [GRCh37]
Chr5:5q23.2
benign|likely benign
NM_001182.5(ALDH7A1):c.774-19C>T single nucleotide variant not specified [RCV000123618] Chr5:126568375 [GRCh38]
Chr5:125904067 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.774-18G>A single nucleotide variant not specified [RCV000123619] Chr5:126568374 [GRCh38]
Chr5:125904066 [GRCh37]
Chr5:5q23.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001182.5(ALDH7A1):c.1009-6G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000472930]|not specified [RCV000123620] Chr5:126556021 [GRCh38]
Chr5:125891713 [GRCh37]
Chr5:5q23.2
benign|likely benign
NM_001182.5(ALDH7A1):c.1094-20C>G single nucleotide variant not specified [RCV000123621] Chr5:126554413 [GRCh38]
Chr5:125890105 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001088015]|not provided [RCV000725403]|not specified [RCV000123623] Chr5:126552075 [GRCh38]
Chr5:125887767 [GRCh37]
Chr5:5q23.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001182.5(ALDH7A1):c.1287T>C (p.Phe429=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000862820]|not specified [RCV000123624] Chr5:126552051 [GRCh38]
Chr5:125887743 [GRCh37]
Chr5:5q23.2
benign|likely benign
NM_001182.5(ALDH7A1):c.1317+20G>A single nucleotide variant not specified [RCV000123626] Chr5:126552001 [GRCh38]
Chr5:125887693 [GRCh37]
Chr5:5q23.2
benign
NM_001182.4(ALDH7A1):c.-29T>C single nucleotide variant Pyridoxine-dependent epilepsy [RCV000398309]|not specified [RCV000123627] Chr5:126595227 [GRCh38]
Chr5:125930919 [GRCh37]
Chr5:5q23.2
benign|likely benign|uncertain significance
NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000468162]|Seizures [RCV000716346]|not specified [RCV000173236] Chr5:126595160 [GRCh38]
Chr5:125930852 [GRCh37]
Chr5:5q23.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001182.5(ALDH7A1):c.1093+1G>A single nucleotide variant not provided [RCV000174294] Chr5:126555930 [GRCh38]
Chr5:125891622 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000387206]|Seizures [RCV000716353]|not provided [RCV000441298]|not specified [RCV000175287] Chr5:126545018 [GRCh38]
Chr5:125880710 [GRCh37]
Chr5:5q23.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001182.5(ALDH7A1):c.1406G>A (p.Arg469His) single nucleotide variant Intellectual disability [RCV001252144]|Pyridoxine-dependent epilepsy [RCV000327621]|not provided [RCV000256146] Chr5:126550205 [GRCh38]
Chr5:125885897 [GRCh37]
Chr5:5q23.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1 copy number loss See cases [RCV000135549] Chr5:111463016..127193038 [GRCh38]
Chr5:110798714..126528730 [GRCh37]
Chr5:110826613..126556629 [NCBI36]
Chr5:5q22.1-23.2
pathogenic
GRCh38/hg38 5q23.2(chr5:122479268-126833168)x1 copy number loss See cases [RCV000136633] Chr5:122479268..126833168 [GRCh38]
Chr5:121814963..126168860 [GRCh37]
Chr5:121842862..126196759 [NCBI36]
Chr5:5q23.2
uncertain significance
GRCh38/hg38 5q23.2(chr5:125372857-126839014)x3 copy number gain See cases [RCV000137993] Chr5:125372857..126839014 [GRCh38]
Chr5:124708550..126174706 [GRCh37]
Chr5:124736449..126202605 [NCBI36]
Chr5:5q23.2
likely benign|uncertain significance
GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1 copy number loss See cases [RCV000139235] Chr5:110687442..130103838 [GRCh38]
Chr5:110023143..129439531 [GRCh37]
Chr5:110051042..129467430 [NCBI36]
Chr5:5q22.1-23.3
pathogenic|uncertain significance
GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1 copy number loss See cases [RCV000139893] Chr5:90374606..128076423 [GRCh38]
Chr5:89670423..127412115 [GRCh37]
Chr5:89706179..127440014 [NCBI36]
Chr5:5q14.3-23.3
pathogenic
GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1 copy number loss See cases [RCV000143746] Chr5:91411708..131319563 [GRCh38]
Chr5:90707525..130655256 [GRCh37]
Chr5:90743281..130683155 [NCBI36]
Chr5:5q14.3-31.1
pathogenic
NM_001182.5(ALDH7A1):c.235A>G (p.Arg79Gly) single nucleotide variant not provided [RCV000723950] Chr5:126593362 [GRCh38]
Chr5:125929054 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.201G>T (p.Thr67=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001151409]|not specified [RCV000192375] Chr5:126593396 [GRCh38]
Chr5:125929088 [GRCh37]
Chr5:5q23.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001182.5(ALDH7A1):c.529G>C (p.Ala177Pro) single nucleotide variant not provided [RCV000255047] Chr5:126577200 [GRCh38]
Chr5:125912892 [GRCh37]
Chr5:5q23.2
likely pathogenic
NM_001182.5(ALDH7A1):c.312+1G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV001234914]|neonatal seizures [RCV000678777]|not provided [RCV000255069] Chr5:126592663 [GRCh38]
Chr5:125928355 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.998C>T (p.Ala333Val) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001071523]|not specified [RCV000193777] Chr5:126559250 [GRCh38]
Chr5:125894942 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1489+4C>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV001236927]|not specified [RCV000194343] Chr5:126549925 [GRCh38]
Chr5:125885617 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.494G>C (p.Gly165Ala) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001156822]|not provided [RCV000724449] Chr5:126582874 [GRCh38]
Chr5:125918566 [GRCh37]
Chr5:5q23.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001182.5(ALDH7A1):c.577G>A (p.Ala193Thr) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000702587]|not provided [RCV000179376] Chr5:126577152 [GRCh38]
Chr5:125912844 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1489+5G>A single nucleotide variant Inborn genetic diseases [RCV000624841]|Pyridoxine-dependent epilepsy [RCV001203133]|not provided [RCV000408272] Chr5:126549924 [GRCh38]
Chr5:125885616 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.*409del deletion Pyridoxine-dependent epilepsy [RCV000262348] Chr5:126544556 [GRCh38]
Chr5:125880248 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*3022T>C single nucleotide variant Pyridoxine-dependent epilepsy [RCV000262757] Chr5:126541943 [GRCh38]
Chr5:125877635 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.*1108G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000263699] Chr5:126543857 [GRCh38]
Chr5:125879549 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.858G>A (p.Val286=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001080203]|not provided [RCV000641169]|not specified [RCV000186716] Chr5:126568272 [GRCh38]
Chr5:125903964 [GRCh37]
Chr5:5q23.2
benign|likely benign
NM_001182.5(ALDH7A1):c.1022G>A (p.Ser341Asn) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000821146]|not specified [RCV000186717] Chr5:126556002 [GRCh38]
Chr5:125891694 [GRCh37]
Chr5:5q23.2
likely benign|uncertain significance
NM_001182.5(ALDH7A1):c.1069A>G (p.Ile357Val) single nucleotide variant not specified [RCV000186718] Chr5:126555955 [GRCh38]
Chr5:125891647 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.*5G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV001151276]|not specified [RCV000186719] Chr5:126544960 [GRCh38]
Chr5:125880652 [GRCh37]
Chr5:5q23.2
likely benign|uncertain significance
NM_001182.4(ALDH7A1):c.-34G>C single nucleotide variant not provided [RCV000514268]|not specified [RCV000186720] Chr5:126595232 [GRCh38]
Chr5:125930924 [GRCh37]
Chr5:5q23.2
benign|likely benign
NM_001182.5(ALDH7A1):c.536T>C (p.Ile179Thr) single nucleotide variant not provided [RCV000186724] Chr5:126577193 [GRCh38]
Chr5:125912885 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.553G>A (p.Val185Ile) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000702625]|not provided [RCV000186726] Chr5:126577176 [GRCh38]
Chr5:125912868 [GRCh37]
Chr5:5q23.2
likely benign|uncertain significance
NM_001182.5(ALDH7A1):c.607T>G (p.Trp203Gly) single nucleotide variant not provided [RCV000186727] Chr5:126577122 [GRCh38]
Chr5:125912814 [GRCh37]
Chr5:5q23.2
pathogenic|likely pathogenic
NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000796632]|not provided [RCV000186728] Chr5:126559244 [GRCh38]
Chr5:125894936 [GRCh37]
Chr5:5q23.2
pathogenic|uncertain significance
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000466667]|not provided [RCV000186729] Chr5:126575451 [GRCh38]
Chr5:125911143 [GRCh37]
Chr5:5q23.2
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001182.5(ALDH7A1):c.200C>T (p.Thr67Met) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001084645]|not provided [RCV000186730] Chr5:126593397 [GRCh38]
Chr5:125929089 [GRCh37]
Chr5:5q23.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001182.5(ALDH7A1):c.203C>A (p.Thr68Asn) single nucleotide variant Intractable seizure [RCV000678776]|Pyridoxine-dependent epilepsy [RCV000641168]|not provided [RCV000186731] Chr5:126593394 [GRCh38]
Chr5:125929086 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1010T>G (p.Phe337Cys) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000465593] Chr5:126556014 [GRCh38]
Chr5:125891706 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1046G>C (p.Arg349Thr) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000690729]|not provided [RCV000186738] Chr5:126555978 [GRCh38]
Chr5:125891670 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1084C>T (p.Pro362Ser) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000690243]|not provided [RCV000186739] Chr5:126555940 [GRCh38]
Chr5:125891632 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1262C>T (p.Ala421Val) single nucleotide variant not provided [RCV000186742] Chr5:126552076 [GRCh38]
Chr5:125887768 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1267A>G (p.Ile423Val) single nucleotide variant not provided [RCV000186743] Chr5:126552071 [GRCh38]
Chr5:125887763 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.4(ALDH7A1):c.1296T>G (p.Ile432Met) single nucleotide variant not specified [RCV000186745] Chr5:126552042 [GRCh38]
Chr5:125887734 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1301A>G (p.Tyr434Cys) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000641165]|not provided [RCV000186746] Chr5:126552037 [GRCh38]
Chr5:125887729 [GRCh37]
Chr5:5q23.2
likely pathogenic|uncertain significance
NM_001182.5(ALDH7A1):c.1375A>T (p.Ile459Phe) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001227681]|not provided [RCV000186747] Chr5:126550236 [GRCh38]
Chr5:125885928 [GRCh37]
Chr5:5q23.2
likely pathogenic|uncertain significance
NM_001182.5(ALDH7A1):c.1481G>T (p.Gly494Val) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001054885]|not provided [RCV000186749] Chr5:126549937 [GRCh38]
Chr5:125885629 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1513G>C (p.Gly505Arg) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000545498]|not provided [RCV000186750] Chr5:126546376 [GRCh38]
Chr5:125882068 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.8G>T (p.Arg3Leu) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000702978]|Seizures [RCV001255104]|not provided [RCV000186752] Chr5:126595191 [GRCh38]
Chr5:125930883 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.56C>T (p.Ser19Phe) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000474881]|Seizures [RCV000718981]|not provided [RCV000186753] Chr5:126595143 [GRCh38]
Chr5:125930835 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.73C>T (p.Pro25Ser) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001207867]|not provided [RCV000186755] Chr5:126595126 [GRCh38]
Chr5:125930818 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.108G>T (p.Gln36His) single nucleotide variant not provided [RCV000186756] Chr5:126595091 [GRCh38]
Chr5:125930783 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.364C>T (p.Arg122Trp) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000556036]|Seizures [RCV000720683]|not provided [RCV000766382]|not specified [RCV000186761] Chr5:126583961 [GRCh38]
Chr5:125919653 [GRCh37]
Chr5:5q23.2
pathogenic|uncertain significance
NM_001182.5(ALDH7A1):c.1016A>G (p.His339Arg) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000532106]|not provided [RCV000186762] Chr5:126556008 [GRCh38]
Chr5:125891700 [GRCh37]
Chr5:5q23.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001182.5(ALDH7A1):c.8G>A (p.Arg3His) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000706918]|not provided [RCV000186764] Chr5:126595191 [GRCh38]
Chr5:125930883 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.13C>T (p.Pro5Ser) single nucleotide variant not provided [RCV000186765] Chr5:126595186 [GRCh38]
Chr5:125930878 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.285_286insG (p.Arg96fs) insertion not provided [RCV000186766] Chr5:126592690..126592691 [GRCh38]
Chr5:125928382..125928383 [GRCh37]
Chr5:5q23.2
pathogenic|likely pathogenic
NM_001182.5(ALDH7A1):c.-18C>G single nucleotide variant not specified [RCV000186721] Chr5:126595216 [GRCh38]
Chr5:125930908 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.23T>C (p.Leu8Pro) single nucleotide variant not specified [RCV000186722] Chr5:126595176 [GRCh38]
Chr5:125930868 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.365G>C (p.Arg122Pro) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001043918]|not provided [RCV000186723] Chr5:126583960 [GRCh38]
Chr5:125919652 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.542A>G (p.Gln181Arg) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000456255]|not provided [RCV000186725] Chr5:126577187 [GRCh38]
Chr5:125912879 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.206A>G (p.Tyr69Cys) single nucleotide variant not provided [RCV000186732] Chr5:126593391 [GRCh38]
Chr5:125929083 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.797G>A (p.Arg266Gln) single nucleotide variant not provided [RCV000186734] Chr5:126568333 [GRCh38]
Chr5:125904025 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.826A>C (p.Thr276Pro) single nucleotide variant not provided [RCV000186735] Chr5:126568304 [GRCh38]
Chr5:125903996 [GRCh37]
Chr5:5q23.2
likely pathogenic
NM_001182.5(ALDH7A1):c.860A>G (p.Gln287Arg) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000765794]|not provided [RCV000186736] Chr5:126568270 [GRCh38]
Chr5:125903962 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1207G>A (p.Asp403Asn) single nucleotide variant not provided [RCV000186740] Chr5:126552131 [GRCh38]
Chr5:125887823 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1225G>T (p.Val409Leu) single nucleotide variant not provided [RCV000186741] Chr5:126552113 [GRCh38]
Chr5:125887805 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1441G>T (p.Val481Leu) single nucleotide variant not provided [RCV000186748] Chr5:126549977 [GRCh38]
Chr5:125885669 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.7C>T (p.Arg3Cys) single nucleotide variant not provided [RCV000186751] Chr5:126595192 [GRCh38]
Chr5:125930884 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.67A>G (p.Ser23Gly) single nucleotide variant not provided [RCV000186754] Chr5:126595132 [GRCh38]
Chr5:125930824 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1468del (p.Ala490fs) deletion not provided [RCV000186757] Chr5:126549950 [GRCh38]
Chr5:125885642 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.4(ALDH7A1):c.1493_1495delGAG (p.Gly498del) microsatellite Seizures [RCV000720202]|not provided [RCV000186758] Chr5:126546394..126546396 [GRCh38]
Chr5:125882086..125882088 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.31_33delinsGAG (p.His11Glu) indel Pyridoxine-dependent epilepsy [RCV000538073]|not specified [RCV000186759] Chr5:126595166..126595168 [GRCh38]
Chr5:125930858..125930860 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.189_190AG[3] (p.Val65fs) microsatellite not provided [RCV000186760] Chr5:126595006..126595007 [GRCh38]
Chr5:125930698..125930699 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.1281G>T (p.Glu427Asp) single nucleotide variant not provided [RCV000186763] Chr5:126552057 [GRCh38]
Chr5:125887749 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.1193G>T (p.Gly398Val) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000205037] Chr5:126554294 [GRCh38]
Chr5:125889986 [GRCh37]
Chr5:5q23.2
pathogenic|likely pathogenic
NM_001182.5(ALDH7A1):c.986G>A (p.Arg329Lys) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000206370] Chr5:126559262 [GRCh38]
Chr5:125894954 [GRCh37]
Chr5:5q23.2
pathogenic|likely pathogenic
NM_001182.5(ALDH7A1):c.584A>G (p.Asn195Ser) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000206803]|not provided [RCV000484609] Chr5:126577145 [GRCh38]
Chr5:125912837 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.575C>T (p.Thr192Met) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000691250]|not provided [RCV000255618] Chr5:126577154 [GRCh38]
Chr5:125912846 [GRCh37]
Chr5:5q23.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001182.5(ALDH7A1):c.882G>C (p.Leu294=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001089019]|not provided [RCV000826963] Chr5:126561114 [GRCh38]
Chr5:125896806 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.1559C>T (p.Ser520Phe) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000544167] Chr5:126546330 [GRCh38]
Chr5:125882022 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1201-8T>C single nucleotide variant Pyridoxine-dependent epilepsy [RCV000231130] Chr5:126552145 [GRCh38]
Chr5:125887837 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.871+14T>A single nucleotide variant not specified [RCV000605489] Chr5:126568245 [GRCh38]
Chr5:125903937 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.355G>A (p.Asp119Asn) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000526319] Chr5:126583970 [GRCh38]
Chr5:125919662 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.545G>A (p.Trp182Ter) single nucleotide variant not provided [RCV000578703] Chr5:126577184 [GRCh38]
Chr5:125912876 [GRCh37]
Chr5:5q23.2
likely pathogenic
NM_001182.5(ALDH7A1):c.1200+1G>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV000546567] Chr5:126554286 [GRCh38]
Chr5:125889978 [GRCh37]
Chr5:5q23.2
likely pathogenic
NM_001182.5(ALDH7A1):c.1201-5A>G single nucleotide variant not specified [RCV000603860] Chr5:126552142 [GRCh38]
Chr5:125887834 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.*2126G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000269128] Chr5:126542839 [GRCh38]
Chr5:125878531 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*1804C>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV000284454] Chr5:126543161 [GRCh38]
Chr5:125878853 [GRCh37]
Chr5:5q23.2
benign|likely benign
NM_001182.5(ALDH7A1):c.*1748T>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000280862] Chr5:126543217 [GRCh38]
Chr5:125878909 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.394-15G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000280965] Chr5:126582989 [GRCh38]
Chr5:125918681 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*2549G>C single nucleotide variant Pyridoxine-dependent epilepsy [RCV000282342] Chr5:126542416 [GRCh38]
Chr5:125878108 [GRCh37]
Chr5:5q23.2
uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
NM_001182.4(ALDH7A1):c.834G>A (p.Val278=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000531654]|not provided [RCV000255917] Chr5:126568296 [GRCh38]
Chr5:125903988 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.518-12T>G single nucleotide variant Pyridoxine-dependent epilepsy [RCV000394172]|not specified [RCV000244896] Chr5:126577223 [GRCh38]
Chr5:125912915 [GRCh37]
Chr5:5q23.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001182.4(ALDH7A1):c.-117G>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV000271749] Chr5:126595315 [GRCh38]
Chr5:125931007 [GRCh37]
Chr5:5q23.2
benign|likely benign
NM_001182.5(ALDH7A1):c.1301A>C (p.Tyr434Ser) single nucleotide variant not provided [RCV000522177] Chr5:126552037 [GRCh38]
Chr5:125887729 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*1209G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000267095] Chr5:126543756 [GRCh38]
Chr5:125879448 [GRCh37]
Chr5:5q23.2
likely benign|uncertain significance
NM_001182.5(ALDH7A1):c.*68A>G single nucleotide variant Pyridoxine-dependent epilepsy [RCV000277754] Chr5:126544897 [GRCh38]
Chr5:125880589 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.*404G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000298817] Chr5:126544561 [GRCh38]
Chr5:125880253 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*1748_*1749delinsAT indel Pyridoxine-dependent epilepsy [RCV000374901] Chr5:126543216..126543217 [GRCh38]
Chr5:125878908..125878909 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*1730C>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV000397393] Chr5:126543235 [GRCh38]
Chr5:125878927 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*403C>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV000353734] Chr5:126544562 [GRCh38]
Chr5:125880254 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*2423C>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV000398348] Chr5:126542542 [GRCh38]
Chr5:125878234 [GRCh37]
Chr5:5q23.2
benign|uncertain significance
NM_001182.5(ALDH7A1):c.*3124A>G single nucleotide variant Pyridoxine-dependent epilepsy [RCV000355147] Chr5:126541841 [GRCh38]
Chr5:125877533 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*690T>C single nucleotide variant Pyridoxine-dependent epilepsy [RCV000400131] Chr5:126544275 [GRCh38]
Chr5:125879967 [GRCh37]
Chr5:5q23.2
likely benign|uncertain significance
NM_001182.5(ALDH7A1):c.*1741T>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000335895] Chr5:126543224 [GRCh38]
Chr5:125878916 [GRCh37]
Chr5:5q23.2
benign|likely benign
NM_001182.5(ALDH7A1):c.*1836C>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000378898] Chr5:126543129 [GRCh38]
Chr5:125878821 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*2499G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000402037] Chr5:126542466 [GRCh38]
Chr5:125878158 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.*641G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000302490] Chr5:126544324 [GRCh38]
Chr5:125880016 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*1059G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000318927] Chr5:126543906 [GRCh38]
Chr5:125879598 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*2512G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000337470] Chr5:126542453 [GRCh38]
Chr5:125878145 [GRCh37]
Chr5:5q23.2
benign|uncertain significance
NM_001182.5(ALDH7A1):c.*548C>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV000357159] Chr5:126544417 [GRCh38]
Chr5:125880109 [GRCh37]
Chr5:5q23.2
benign|likely benign
NM_001182.5(ALDH7A1):c.*1112T>G single nucleotide variant Pyridoxine-dependent epilepsy [RCV000358254] Chr5:126543853 [GRCh38]
Chr5:125879545 [GRCh37]
Chr5:5q23.2
benign|likely benign
NM_001182.5(ALDH7A1):c.*1749G>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV000320250] Chr5:126543216 [GRCh38]
Chr5:125878908 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.*898_*900del deletion Pyridoxine-dependent epilepsy [RCV000290885] Chr5:126544065..126544067 [GRCh38]
Chr5:125879757..125879759 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*1368A>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV000361533] Chr5:126543597 [GRCh38]
Chr5:125879289 [GRCh37]
Chr5:5q23.2
benign|likely benign
NM_001182.5(ALDH7A1):c.*726C>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV000306046] Chr5:126544239 [GRCh38]
Chr5:125879931 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.*1441C>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV000307077] Chr5:126543524 [GRCh38]
Chr5:125879216 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1008+11C>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV000342772] Chr5:126559229 [GRCh38]
Chr5:125894921 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.4(ALDH7A1):c.-151C>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV000362913] Chr5:126595349 [GRCh38]
Chr5:125931041 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.*2254T>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000363586] Chr5:126542711 [GRCh38]
Chr5:125878403 [GRCh37]
Chr5:5q23.2
benign|likely benign
NM_001182.4(ALDH7A1):c.-80T>G single nucleotide variant Pyridoxine-dependent epilepsy [RCV000365925]|not provided [RCV000998422] Chr5:126595278 [GRCh38]
Chr5:125930970 [GRCh37]
Chr5:5q23.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001182.4(ALDH7A1):c.-132A>C single nucleotide variant Pyridoxine-dependent epilepsy [RCV000326835]|not provided [RCV000829900] Chr5:126595330 [GRCh38]
Chr5:125931022 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.*818G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000345823] Chr5:126544147 [GRCh38]
Chr5:125879839 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.*2387A>G single nucleotide variant Pyridoxine-dependent epilepsy [RCV000367173] Chr5:126542578 [GRCh38]
Chr5:125878270 [GRCh37]
Chr5:5q23.2
likely benign|uncertain significance
NM_001182.5(ALDH7A1):c.*2314T>C single nucleotide variant Pyridoxine-dependent epilepsy [RCV000327557] Chr5:126542651 [GRCh38]
Chr5:125878343 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.119C>T (p.Ala40Val) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000369460] Chr5:126595080 [GRCh38]
Chr5:125930772 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*1702del deletion Pyridoxine-dependent epilepsy [RCV000296078] Chr5:126543263 [GRCh38]
Chr5:125878955 [GRCh37]
Chr5:5q23.2
benign
NM_001182.4(ALDH7A1):c.-60G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000311308] Chr5:126595258 [GRCh38]
Chr5:125930950 [GRCh37]
Chr5:5q23.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001182.5(ALDH7A1):c.*2492C>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV000297427] Chr5:126542473 [GRCh38]
Chr5:125878165 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.313-15G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000394169]|not specified [RCV000433077] Chr5:126584027 [GRCh38]
Chr5:125919719 [GRCh37]
Chr5:5q23.2
likely benign|uncertain significance
NM_001182.5(ALDH7A1):c.*2409A>C single nucleotide variant Pyridoxine-dependent epilepsy [RCV000312803] Chr5:126542556 [GRCh38]
Chr5:125878248 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*1693A>C single nucleotide variant Pyridoxine-dependent epilepsy [RCV000350883] Chr5:126543272 [GRCh38]
Chr5:125878964 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*807C>G single nucleotide variant Pyridoxine-dependent epilepsy [RCV000395618] Chr5:126544158 [GRCh38]
Chr5:125879850 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.*1672A>G single nucleotide variant Pyridoxine-dependent epilepsy [RCV000395688] Chr5:126543293 [GRCh38]
Chr5:125878985 [GRCh37]
Chr5:5q23.2
benign|likely benign
NM_001182.5(ALDH7A1):c.*1002_*1003insA insertion Pyridoxine-dependent epilepsy [RCV000260162] Chr5:126543962..126543963 [GRCh38]
Chr5:125879654..125879655 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*999_*1000dup duplication Pyridoxine-dependent epilepsy [RCV000294397] Chr5:126543964..126543965 [GRCh38]
Chr5:125879656..125879657 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*2365C>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV000272594] Chr5:126542600 [GRCh38]
Chr5:125878292 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1087T>C (p.Trp363Arg) single nucleotide variant not provided [RCV000383795] Chr5:126555937 [GRCh38]
Chr5:125891629 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*2997dup duplication Pyridoxine-dependent epilepsy [RCV000320284] Chr5:126541967..126541968 [GRCh38]
Chr5:125877659..125877660 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.1439T>C (p.Ile480Thr) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000274095] Chr5:126549979 [GRCh38]
Chr5:125885671 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*998_*1000dup duplication Pyridoxine-dependent epilepsy [RCV000349354] Chr5:126543964..126543965 [GRCh38]
Chr5:125879656..125879657 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*2464dup duplication Pyridoxine-dependent epilepsy [RCV000370891] Chr5:126542500..126542501 [GRCh38]
Chr5:125878192..125878193 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*2996_*2997dup duplication Pyridoxine-dependent epilepsy [RCV000377264] Chr5:126541967..126541968 [GRCh38]
Chr5:125877659..125877660 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*1000dup duplication Pyridoxine-dependent epilepsy [RCV000388641] Chr5:126543964..126543965 [GRCh38]
Chr5:125879656..125879657 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*2568_*2569dup duplication Pyridoxine-dependent epilepsy [RCV000394284] Chr5:126542395..126542396 [GRCh38]
Chr5:125878087..125878088 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.63T>C (p.Pro21=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001079805]|not provided [RCV000725943]|not specified [RCV000367154] Chr5:126595136 [GRCh38]
Chr5:125930828 [GRCh37]
Chr5:5q23.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001182.5(ALDH7A1):c.1066C>G (p.Gln356Glu) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000815892]|not provided [RCV000725331] Chr5:126555958 [GRCh38]
Chr5:125891650 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.589C>T (p.Pro197Ser) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000554558]|not provided [RCV000489345] Chr5:126577140 [GRCh38]
Chr5:125912832 [GRCh37]
Chr5:5q23.2
pathogenic|likely pathogenic|uncertain significance
NM_001182.5(ALDH7A1):c.328C>G (p.Arg110Gly) single nucleotide variant not specified [RCV000489779] Chr5:126583997 [GRCh38]
Chr5:125919689 [GRCh37]
Chr5:5q23.2
uncertain significance
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2
pathogenic
NM_001182.5(ALDH7A1):c.*2781C>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV000380429] Chr5:126542184 [GRCh38]
Chr5:125877876 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*1176G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000303496] Chr5:126543789 [GRCh38]
Chr5:125879481 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*1496T>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000346630] Chr5:126543469 [GRCh38]
Chr5:125879161 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*1484T>C single nucleotide variant Pyridoxine-dependent epilepsy [RCV000401352] Chr5:126543481 [GRCh38]
Chr5:125879173 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.246+6A>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV000527906]|not specified [RCV000610580] Chr5:126593345 [GRCh38]
Chr5:125929037 [GRCh37]
Chr5:5q23.2
likely benign|uncertain significance
NM_001182.5(ALDH7A1):c.*65G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000332731] Chr5:126544900 [GRCh38]
Chr5:125880592 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*980del deletion Pyridoxine-dependent epilepsy [RCV000384161] Chr5:126543985 [GRCh38]
Chr5:125879677 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*1002del deletion Pyridoxine-dependent epilepsy [RCV000334191] Chr5:126543963 [GRCh38]
Chr5:125879655 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*2700A>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV000286005] Chr5:126542265 [GRCh38]
Chr5:125877957 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*1839G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000324237] Chr5:126543126 [GRCh38]
Chr5:125878818 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.518-8G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000339463] Chr5:126577219 [GRCh38]
Chr5:125912911 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*1004dup duplication Pyridoxine-dependent epilepsy [RCV000373437] Chr5:126543960..126543961 [GRCh38]
Chr5:125879652..125879653 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*1529A>G single nucleotide variant Pyridoxine-dependent epilepsy [RCV000310501] Chr5:126543436 [GRCh38]
Chr5:125879128 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*2818T>C single nucleotide variant Pyridoxine-dependent epilepsy [RCV000325884] Chr5:126542147 [GRCh38]
Chr5:125877839 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*2584C>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000341000] Chr5:126542381 [GRCh38]
Chr5:125878073 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*2820dup duplication Pyridoxine-dependent epilepsy [RCV000289623] Chr5:126542144..126542145 [GRCh38]
Chr5:125877836..125877837 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*717G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000342260] Chr5:126544248 [GRCh38]
Chr5:125879940 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.518-10_518-9del deletion not provided [RCV000592214] Chr5:126577220..126577221 [GRCh38]
Chr5:125912912..125912913 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.417C>T (p.Ile139=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000641171] Chr5:126582951 [GRCh38]
Chr5:125918643 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.553G>T (p.Val185Leu) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000641167] Chr5:126577176 [GRCh38]
Chr5:125912868 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1176T>C (p.Gly392=) single nucleotide variant not provided [RCV000731182] Chr5:126554311 [GRCh38]
Chr5:125890003 [GRCh37]
Chr5:5q23.2
conflicting interpretations of pathogenicity|uncertain significance
NC_000005.9:g.125894993G>GG single nucleotide variant not provided [RCV000730244] Chr5:125894993 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.1520A>C (p.Glu507Ala) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000559882] Chr5:126546369 [GRCh38]
Chr5:125882061 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.387A>C (p.Gly129=) single nucleotide variant not provided [RCV000728847] Chr5:126583938 [GRCh38]
Chr5:125919630 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1566-1G>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV000558837]|Seizures [RCV000414868]|not provided [RCV000523518] Chr5:126545020 [GRCh38]
Chr5:125880712 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.34del (p.Ala12fs) deletion Pyridoxine-dependent epilepsy [RCV000548007]|Seizures [RCV000717913]|not provided [RCV000732134] Chr5:126595165 [GRCh38]
Chr5:125930857 [GRCh37]
Chr5:5q23.2
pathogenic|uncertain significance
NM_001182.5(ALDH7A1):c.1376T>C (p.Ile459Thr) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000799588]|not specified [RCV000413292] Chr5:126550235 [GRCh38]
Chr5:125885927 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.154G>C (p.Glu52Gln) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000533663]|Seizures [RCV000720296] Chr5:126595045 [GRCh38]
Chr5:125930737 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.359C>G (p.Ala120Gly) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000541179] Chr5:126583966 [GRCh38]
Chr5:125919658 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.8G>C (p.Arg3Pro) single nucleotide variant not provided [RCV000522806] Chr5:126595191 [GRCh38]
Chr5:125930883 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.571A>G (p.Ile191Val) single nucleotide variant Abnormality of brain morphology [RCV000454207] Chr5:126577158 [GRCh38]
Chr5:125912850 [GRCh37]
Chr5:5q23.2
likely pathogenic
NM_001182.5(ALDH7A1):c.1276A>G (p.Thr426Ala) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000814956]|not provided [RCV000417460] Chr5:126552062 [GRCh38]
Chr5:125887754 [GRCh37]
Chr5:5q23.2
likely benign|uncertain significance
NM_001182.5(ALDH7A1):c.1009-14C>T single nucleotide variant not specified [RCV000434146] Chr5:126556029 [GRCh38]
Chr5:125891721 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.1565+15T>C single nucleotide variant not specified [RCV000437767] Chr5:126546309 [GRCh38]
Chr5:125882001 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.393+15T>C single nucleotide variant Pyridoxine-dependent epilepsy [RCV001151406]|not specified [RCV000441435] Chr5:126583917 [GRCh38]
Chr5:125919609 [GRCh37]
Chr5:5q23.2
benign|uncertain significance
NM_001182.5(ALDH7A1):c.1094-14T>G single nucleotide variant not specified [RCV000441438] Chr5:126554407 [GRCh38]
Chr5:125890099 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.960C>T (p.Phe320=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000532418]|not specified [RCV000445011] Chr5:126559288 [GRCh38]
Chr5:125894980 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.1565G>C (p.Cys522Ser) single nucleotide variant not provided [RCV000431222] Chr5:126546324 [GRCh38]
Chr5:125882016 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.956T>A (p.Leu319His) single nucleotide variant not provided [RCV000434474] Chr5:126559292 [GRCh38]
Chr5:125894984 [GRCh37]
Chr5:5q23.2
uncertain significance
GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)x1 copy number loss See cases [RCV000445968] Chr5:100607918..125900735 [GRCh37]
Chr5:5q21.1-23.2
pathogenic
NM_001182.5(ALDH7A1):c.913+8T>C single nucleotide variant Pyridoxine-dependent epilepsy [RCV000868855]|not specified [RCV000424179] Chr5:126561075 [GRCh38]
Chr5:125896767 [GRCh37]
Chr5:5q23.2
likely benign|conflicting interpretations of pathogenicity
NM_001182.5(ALDH7A1):c.1470T>C (p.Ala490=) single nucleotide variant not specified [RCV000424267] Chr5:126549948 [GRCh38]
Chr5:125885640 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.650+15C>G single nucleotide variant not specified [RCV000427683] Chr5:126577064 [GRCh38]
Chr5:125912756 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.1150G>A (p.Ala384Thr) single nucleotide variant Leukoencephalopathy [RCV000678778]|Pyridoxine-dependent epilepsy [RCV001063770]|not provided [RCV000431414] Chr5:126554337 [GRCh38]
Chr5:125890029 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.961G>A (p.Ala321Thr) single nucleotide variant not provided [RCV000438267] Chr5:126559287 [GRCh38]
Chr5:125894979 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.561G>A (p.Leu187=) single nucleotide variant not specified [RCV000424412] Chr5:126577168 [GRCh38]
Chr5:125912860 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.1490-7T>C single nucleotide variant not specified [RCV000421172] Chr5:126546406 [GRCh38]
Chr5:125882098 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.1317+20G>C single nucleotide variant not specified [RCV000438653] Chr5:126552001 [GRCh38]
Chr5:125887693 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.552C>T (p.Pro184=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001080510]|not provided [RCV000734283]|not specified [RCV000421307] Chr5:126577177 [GRCh38]
Chr5:125912869 [GRCh37]
Chr5:5q23.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001182.5(ALDH7A1):c.-13T>G single nucleotide variant not provided [RCV000998421]|not specified [RCV000428416] Chr5:126595211 [GRCh38]
Chr5:125930903 [GRCh37]
Chr5:5q23.2
likely benign|uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_001182.5(ALDH7A1):c.1415+7C>T single nucleotide variant not specified [RCV000418828] Chr5:126550189 [GRCh38]
Chr5:125885881 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.1094-4C>T single nucleotide variant not specified [RCV000428922] Chr5:126554397 [GRCh38]
Chr5:125890089 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.1126C>A (p.Gln376Lys) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001051198]|not provided [RCV000419331] Chr5:126554361 [GRCh38]
Chr5:125890053 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.460T>C (p.Cys154Arg) single nucleotide variant not provided [RCV000422037] Chr5:126582908 [GRCh38]
Chr5:125918600 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1008+4A>G single nucleotide variant not provided [RCV000425365] Chr5:126559236 [GRCh38]
Chr5:125894928 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1093C>T (p.Pro365Ser) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001071821]|not provided [RCV000432711] Chr5:126555931 [GRCh38]
Chr5:125891623 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.771T>C (p.Ile257=) single nucleotide variant not specified [RCV000432897] Chr5:126570784 [GRCh38]
Chr5:125906476 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.1305C>G (p.Val435=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000641173]|not specified [RCV000444054] Chr5:126552033 [GRCh38]
Chr5:125887725 [GRCh37]
Chr5:5q23.2
benign|likely benign
NM_001182.4(ALDH7A1):c.-30C>T single nucleotide variant not specified [RCV000437077] Chr5:126595228 [GRCh38]
Chr5:125930920 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.133C>T (p.Leu45=) single nucleotide variant not specified [RCV000440630] Chr5:126595066 [GRCh38]
Chr5:125930758 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.651-19T>A single nucleotide variant not specified [RCV000426747] Chr5:126575483 [GRCh38]
Chr5:125911175 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.393+12T>C single nucleotide variant not specified [RCV000430834] Chr5:126583920 [GRCh38]
Chr5:125919612 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.650+18T>C single nucleotide variant not specified [RCV000441043] Chr5:126577061 [GRCh38]
Chr5:125912753 [GRCh37]
Chr5:5q23.2
likely benign
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
NM_001182.5(ALDH7A1):c.354C>T (p.Gly118=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000473963]|not specified [RCV000608072] Chr5:126583971 [GRCh38]
Chr5:125919663 [GRCh37]
Chr5:5q23.2
likely benign|uncertain significance
NM_001182.5(ALDH7A1):c.394-1G>C single nucleotide variant not provided [RCV000481389] Chr5:126582975 [GRCh38]
Chr5:125918667 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.682G>A (p.Val228Met) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000459530] Chr5:126575433 [GRCh38]
Chr5:125911125 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1374C>T (p.Ser458=) single nucleotide variant not provided [RCV000473538] Chr5:126550237 [GRCh38]
Chr5:125885929 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.530C>A (p.Ala177Glu) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000471461] Chr5:126577199 [GRCh38]
Chr5:125912891 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.901_902del (p.Asn301fs) deletion Pyridoxine-dependent epilepsy [RCV001216446]|not provided [RCV000483865] Chr5:126561094..126561095 [GRCh38]
Chr5:125896786..125896787 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.1224T>C (p.Tyr408=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000464392] Chr5:126552114 [GRCh38]
Chr5:125887806 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.247-1G>C single nucleotide variant Inborn genetic diseases [RCV001266223]|Pyridoxine-dependent epilepsy [RCV000468096] Chr5:126592730 [GRCh38]
Chr5:125928422 [GRCh37]
Chr5:5q23.2
likely pathogenic
NM_001182.5(ALDH7A1):c.177G>A (p.Trp59Ter) single nucleotide variant not provided [RCV000484489] Chr5:126595022 [GRCh38]
Chr5:125930714 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.263A>T (p.Tyr88Phe) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000457675] Chr5:126592713 [GRCh38]
Chr5:125928405 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1565+1G>T single nucleotide variant not provided [RCV000485613] Chr5:126546323 [GRCh38]
Chr5:125882015 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.79G>C (p.Ala27Pro) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000469172] Chr5:126595120 [GRCh38]
Chr5:125930812 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.914C>G (p.Ala305Gly) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000473337]|not provided [RCV000493795] Chr5:126559334 [GRCh38]
Chr5:125895026 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1551G>A (p.Met517Ile) single nucleotide variant not provided [RCV000479462] Chr5:126546338 [GRCh38]
Chr5:125882030 [GRCh37]
Chr5:5q23.2
likely pathogenic
NM_001182.5(ALDH7A1):c.503_506del (p.Ile168fs) deletion Pyridoxine-dependent epilepsy [RCV001066514]|not provided [RCV000486613] Chr5:126582862..126582865 [GRCh38]
Chr5:125918554..125918557 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.236G>A (p.Arg79Lys) single nucleotide variant not provided [RCV000493788] Chr5:126593361 [GRCh38]
Chr5:125929053 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.632G>T (p.Cys211Phe) single nucleotide variant not provided [RCV000493900] Chr5:126577097 [GRCh38]
Chr5:125912789 [GRCh37]
Chr5:5q23.2
likely pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
NM_001182.5(ALDH7A1):c.1232C>T (p.Pro411Leu) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001236631]|Seizures [RCV000720567]|not provided [RCV000494142] Chr5:126552106 [GRCh38]
Chr5:125887798 [GRCh37]
Chr5:5q23.2
likely pathogenic|uncertain significance
NM_001182.5(ALDH7A1):c.1442T>A (p.Val481Glu) single nucleotide variant not provided [RCV000494187] Chr5:126549976 [GRCh38]
Chr5:125885668 [GRCh37]
Chr5:5q23.2
likely pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_001182.5(ALDH7A1):c.773+5G>A single nucleotide variant not provided [RCV000493069] Chr5:126570777 [GRCh38]
Chr5:125906469 [GRCh37]
Chr5:5q23.2
likely pathogenic
NM_001182.5(ALDH7A1):c.686C>T (p.Ala229Val) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000538184] Chr5:126575429 [GRCh38]
Chr5:125911121 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.852G>C (p.Leu284=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000641170] Chr5:126568278 [GRCh38]
Chr5:125903970 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.871+8T>G single nucleotide variant Pyridoxine-dependent epilepsy [RCV000641174] Chr5:126568251 [GRCh38]
Chr5:125903943 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.1318-16A>G single nucleotide variant not specified [RCV000615051] Chr5:126550309 [GRCh38]
Chr5:125886001 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.696-3T>C single nucleotide variant not specified [RCV000615061] Chr5:126570862 [GRCh38]
Chr5:125906554 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.1017T>C (p.His339=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001084375]|not provided [RCV000733776]|not specified [RCV000600212] Chr5:126556007 [GRCh38]
Chr5:125891699 [GRCh37]
Chr5:5q23.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001182.5(ALDH7A1):c.651-25_651-20del microsatellite not specified [RCV000610012] Chr5:126575484..126575489 [GRCh38]
Chr5:125911176..125911181 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.1416-11T>C single nucleotide variant not specified [RCV000610028] Chr5:126550013 [GRCh38]
Chr5:125885705 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.1233G>A (p.Pro411=) single nucleotide variant not specified [RCV000610069] Chr5:126552105 [GRCh38]
Chr5:125887797 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.120G>A (p.Ala40=) single nucleotide variant not specified [RCV000615614] Chr5:126595079 [GRCh38]
Chr5:125930771 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.573C>T (p.Ile191=) single nucleotide variant not specified [RCV000616100] Chr5:126577156 [GRCh38]
Chr5:125912848 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.192+3A>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV000534592] Chr5:126595004 [GRCh38]
Chr5:125930696 [GRCh37]
Chr5:5q23.2
likely pathogenic
NM_001182.5(ALDH7A1):c.914-13G>C single nucleotide variant not specified [RCV000611014] Chr5:126559347 [GRCh38]
Chr5:125895039 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.5G>A (p.Trp2Ter) single nucleotide variant not provided [RCV000627317] Chr5:126595194 [GRCh38]
Chr5:125930886 [GRCh37]
Chr5:5q23.2
likely pathogenic
NM_001182.5(ALDH7A1):c.1317+19C>T single nucleotide variant not specified [RCV000611221] Chr5:126552002 [GRCh38]
Chr5:125887694 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.532_542del (p.Leu178fs) deletion Pyridoxine-dependent epilepsy [RCV000539688] Chr5:126577187..126577197 [GRCh38]
Chr5:125912879..125912889 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.192+9G>A single nucleotide variant not specified [RCV000614413] Chr5:126594998 [GRCh38]
Chr5:125930690 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.952G>C (p.Ala318Pro) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000558498] Chr5:126559296 [GRCh38]
Chr5:125894988 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.222C>T (p.Asn74=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001151408]|not specified [RCV000602094] Chr5:126593375 [GRCh38]
Chr5:125929067 [GRCh37]
Chr5:5q23.2
likely benign|uncertain significance
NM_001182.5(ALDH7A1):c.423G>C (p.Val141=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000524837] Chr5:126582945 [GRCh38]
Chr5:125918637 [GRCh37]
Chr5:5q23.2
likely benign|conflicting interpretations of pathogenicity
NM_001182.5(ALDH7A1):c.450T>C (p.Tyr150=) single nucleotide variant not specified [RCV000605820] Chr5:126582918 [GRCh38]
Chr5:125918610 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.1163C>G (p.Ala388Gly) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000685562] Chr5:126554324 [GRCh38]
Chr5:125890016 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.50dup (p.Leu18fs) duplication Pyridoxine-dependent epilepsy [RCV001205653]|Seizures [RCV000717417] Chr5:126595148..126595149 [GRCh38]
Chr5:125930840..125930841 [GRCh37]
Chr5:5q23.2
pathogenic|uncertain significance
NM_001182.5(ALDH7A1):c.283G>A (p.Ala95Thr) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000700221] Chr5:126592693 [GRCh38]
Chr5:125928385 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1356A>C (p.Lys452Asn) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000704231] Chr5:126550255 [GRCh38]
Chr5:125885947 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.119C>G (p.Ala40Gly) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000690210] Chr5:126595080 [GRCh38]
Chr5:125930772 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.936C>G (p.Ser312Arg) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000706038] Chr5:126559312 [GRCh38]
Chr5:125895004 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.16C>T (p.Arg6Cys) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000685628] Chr5:126595183 [GRCh38]
Chr5:125930875 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1451A>G (p.Asn484Ser) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000703988] Chr5:126549967 [GRCh38]
Chr5:125885659 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.995C>G (p.Thr332Ser) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000692344]|Seizures [RCV000717787] Chr5:126559253 [GRCh38]
Chr5:125894945 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.952G>A (p.Ala318Thr) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000690374] Chr5:126559296 [GRCh38]
Chr5:125894988 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.987G>T (p.Arg329Ser) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000690451] Chr5:126559261 [GRCh38]
Chr5:125894953 [GRCh37]
Chr5:5q23.2
likely pathogenic|uncertain significance
NM_001182.5(ALDH7A1):c.20C>T (p.Ala7Val) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000693222] Chr5:126595179 [GRCh38]
Chr5:125930871 [GRCh37]
Chr5:5q23.2
uncertain significance
NC_000005.10:g.(?_126575400)_(126575484_?)del deletion Pyridoxine-dependent epilepsy [RCV000708356] Chr5:126575400..126575484 [GRCh38]
Chr5:125911092..125911176 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.43_46dup (p.Ser16fs) duplication Pyridoxine-dependent epilepsy [RCV000697020] Chr5:126595152..126595153 [GRCh38]
Chr5:125930844..125930845 [GRCh37]
Chr5:5q23.2
pathogenic|uncertain significance
NM_001182.5(ALDH7A1):c.247G>A (p.Ala83Thr) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000703644] Chr5:126592729 [GRCh38]
Chr5:125928421 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.267A>G (p.Glu89=) single nucleotide variant not provided [RCV000710500] Chr5:126592709 [GRCh38]
Chr5:125928401 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.651-5T>C single nucleotide variant Seizures [RCV000718382] Chr5:126575469 [GRCh38]
Chr5:125911161 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.947dup (p.Ser317fs) duplication Seizures [RCV000720713]|not provided [RCV000730244] Chr5:126559300..126559301 [GRCh38]
Chr5:125894992..125894993 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.394-5T>C single nucleotide variant Seizures [RCV000720079] Chr5:126582979 [GRCh38]
Chr5:125918671 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.623C>T (p.Ala208Val) single nucleotide variant Seizures [RCV000720718] Chr5:126577106 [GRCh38]
Chr5:125912798 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.726G>A (p.Lys242=) single nucleotide variant Seizures [RCV000720063] Chr5:126570829 [GRCh38]
Chr5:125906521 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.452T>C (p.Val151Ala) single nucleotide variant Seizures [RCV000720174] Chr5:126582916 [GRCh38]
Chr5:125918608 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1073G>T (p.Arg358Leu) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001042818]|Seizures [RCV000720906] Chr5:126555951 [GRCh38]
Chr5:125891643 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.139C>T (p.Leu47Phe) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001052169] Chr5:126595060 [GRCh38]
Chr5:125930752 [GRCh37]
Chr5:5q23.2
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_001182.5(ALDH7A1):c.246+9G>C single nucleotide variant Pyridoxine-dependent epilepsy [RCV000861590] Chr5:126593342 [GRCh38]
Chr5:125929034 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.1461A>G (p.Thr487=) single nucleotide variant not provided [RCV000862779] Chr5:126549957 [GRCh38]
Chr5:125885649 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.914-4T>G single nucleotide variant Pyridoxine-dependent epilepsy [RCV000863094] Chr5:126559338 [GRCh38]
Chr5:125895030 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000761480] Chr5:126546333 [GRCh38]
Chr5:125882025 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.683T>C (p.Val228Ala) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001060088] Chr5:126575432 [GRCh38]
Chr5:125911124 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.66G>C (p.Trp22Cys) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001057728] Chr5:126595133 [GRCh38]
Chr5:125930825 [GRCh37]
Chr5:5q23.2
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_001182.5(ALDH7A1):c.1293G>A (p.Pro431=) single nucleotide variant not provided [RCV000924125] Chr5:126552045 [GRCh38]
Chr5:125887737 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.597A>G (p.Ala199=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000981242] Chr5:126577132 [GRCh38]
Chr5:125912824 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.1068G>A (p.Gln356=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000863747] Chr5:126555956 [GRCh38]
Chr5:125891648 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.732T>C (p.Pro244=) single nucleotide variant not provided [RCV000943722] Chr5:126570823 [GRCh38]
Chr5:125906515 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.1029T>C (p.His343=) single nucleotide variant not provided [RCV000865883] Chr5:126555995 [GRCh38]
Chr5:125891687 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.321T>C (p.Ala107=) single nucleotide variant not provided [RCV000937979] Chr5:126584004 [GRCh38]
Chr5:125919696 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.85A>G (p.Met29Val) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001044259] Chr5:126595114 [GRCh38]
Chr5:125930806 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.259G>C (p.Asp87His) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001044331] Chr5:126592717 [GRCh38]
Chr5:125928409 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.494G>T (p.Gly165Val) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001050658]|not provided [RCV001268456] Chr5:126582874 [GRCh38]
Chr5:125918566 [GRCh37]
Chr5:5q23.2
pathogenic|uncertain significance
NM_001182.5(ALDH7A1):c.898A>G (p.Asn300Asp) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001052854] Chr5:126561098 [GRCh38]
Chr5:125896790 [GRCh37]
Chr5:5q23.2
likely pathogenic
NM_001182.5(ALDH7A1):c.14C>T (p.Pro5Leu) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001044840] Chr5:126595185 [GRCh38]
Chr5:125930877 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.322C>T (p.Pro108Ser) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001068665] Chr5:126584003 [GRCh38]
Chr5:125919695 [GRCh37]
Chr5:5q23.2
uncertain significance
NC_000005.10:g.(?_126582831)_(126584032_?)del deletion Pyridoxine-dependent epilepsy [RCV001032907] Chr5:125918523..125919724 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.873G>T (p.Gly291=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001048417] Chr5:126561123 [GRCh38]
Chr5:125896815 [GRCh37]
Chr5:5q23.2
uncertain significance
NC_000005.10:g.(?_126575400)_(126575484_?)dup duplication Pyridoxine-dependent epilepsy [RCV001033085] Chr5:125911092..125911176 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.995C>T (p.Thr332Ile) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000767891] Chr5:126559253 [GRCh38]
Chr5:125894945 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.843G>C (p.Gln281His) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000809670] Chr5:126568287 [GRCh38]
Chr5:125903979 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.866_871+2dup duplication Pyridoxine-dependent epilepsy [RCV000818647] Chr5:126568256..126568257 [GRCh38]
Chr5:125903948..125903949 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.244del (p.Gln82fs) deletion Pyridoxine-dependent epilepsy [RCV000778746] Chr5:126593353 [GRCh38]
Chr5:125929045 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.141_142insA (p.Arg48fs) insertion Pyridoxine-dependent epilepsy [RCV000778747]|not provided [RCV001090283] Chr5:126595057..126595058 [GRCh38]
Chr5:125930749..125930750 [GRCh37]
Chr5:5q23.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001182.5(ALDH7A1):c.807G>A (p.Leu269=) single nucleotide variant not provided [RCV000920878] Chr5:126568323 [GRCh38]
Chr5:125904015 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.930C>T (p.Asp310=) single nucleotide variant not provided [RCV000978038] Chr5:126559318 [GRCh38]
Chr5:125895010 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.528T>C (p.His176=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000864206] Chr5:126577201 [GRCh38]
Chr5:125912893 [GRCh37]
Chr5:5q23.2
likely benign|conflicting interpretations of pathogenicity
NM_001182.5(ALDH7A1):c.99C>T (p.Leu33=) single nucleotide variant not provided [RCV000943943] Chr5:126595100 [GRCh38]
Chr5:125930792 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.872-6T>C single nucleotide variant not provided [RCV000875777] Chr5:126561130 [GRCh38]
Chr5:125896822 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.393+264C>G single nucleotide variant not provided [RCV000827753] Chr5:126583668 [GRCh38]
Chr5:125919360 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.394-59_394-55del microsatellite not provided [RCV000833795] Chr5:126583029..126583033 [GRCh38]
Chr5:125918721..125918725 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.1489+116del deletion not provided [RCV000835273] Chr5:126549813 [GRCh38]
Chr5:125885505 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.1547A>G (p.Tyr516Cys) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000802615] Chr5:126546342 [GRCh38]
Chr5:125882034 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.853A>G (p.Met285Val) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000823174] Chr5:126568277 [GRCh38]
Chr5:125903969 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.193-91C>A single nucleotide variant not provided [RCV000832449] Chr5:126593495 [GRCh38]
Chr5:125929187 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.246+306G>A single nucleotide variant not provided [RCV000827988] Chr5:126593045 [GRCh38]
Chr5:125928737 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.192G>C (p.Glu64Asp) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000801149] Chr5:126595007 [GRCh38]
Chr5:125930699 [GRCh37]
Chr5:5q23.2
likely pathogenic|uncertain significance
NM_001182.5(ALDH7A1):c.518-110del deletion not provided [RCV000834382] Chr5:126577321 [GRCh38]
Chr5:125913013 [GRCh37]
Chr5:5q23.2
benign
NC_000005.10:g.126595607C>T single nucleotide variant not provided [RCV000828842] Chr5:126595607 [GRCh38]
Chr5:125931299 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.656G>C (p.Gly219Ala) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000806912] Chr5:126575459 [GRCh38]
Chr5:125911151 [GRCh37]
Chr5:5q23.2
uncertain significance
NC_000005.10:g.126595671G>C single nucleotide variant not provided [RCV000832039] Chr5:126595671 [GRCh38]
Chr5:125931363 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.1003C>T (p.Arg335Ter) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000807892] Chr5:126559245 [GRCh38]
Chr5:125894937 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.18C>T (p.Arg6=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000791528] Chr5:126595181 [GRCh38]
Chr5:125930873 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.781A>G (p.Met261Val) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000811899] Chr5:126568349 [GRCh38]
Chr5:125904041 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.914-118dup duplication Pyridoxine-dependent epilepsy [RCV000987594] Chr5:126559434..126559435 [GRCh38]
Chr5:125895126..125895127 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.1124A>G (p.Lys375Arg) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000803812] Chr5:126554363 [GRCh38]
Chr5:125890055 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1318-86G>A single nucleotide variant not provided [RCV000829990] Chr5:126550379 [GRCh38]
Chr5:125886071 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.1094-224T>G single nucleotide variant not provided [RCV000836977] Chr5:126554617 [GRCh38]
Chr5:125890309 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.621C>T (p.Ile207=) single nucleotide variant not provided [RCV000826962] Chr5:126577108 [GRCh38]
Chr5:125912800 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.1270G>A (p.Ala424Thr) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000800652] Chr5:126552068 [GRCh38]
Chr5:125887760 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1094-184C>T single nucleotide variant not provided [RCV000838960] Chr5:126554577 [GRCh38]
Chr5:125890269 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.1565+167del deletion not provided [RCV000836982] Chr5:126546157 [GRCh38]
Chr5:125881849 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.914-2A>C single nucleotide variant Pyridoxine-dependent epilepsy [RCV000816313] Chr5:126559336 [GRCh38]
Chr5:125895028 [GRCh37]
Chr5:5q23.2
likely pathogenic
NM_001182.5(ALDH7A1):c.913+5G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000813909] Chr5:126561078 [GRCh38]
Chr5:125896770 [GRCh37]
Chr5:5q23.2
uncertain significance
NC_000005.10:g.126595645G>C single nucleotide variant not provided [RCV000827729] Chr5:126595645 [GRCh38]
Chr5:125931337 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.872-102G>T single nucleotide variant not provided [RCV000834024] Chr5:126561226 [GRCh38]
Chr5:125896918 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.1093+107A>T single nucleotide variant not provided [RCV000834537] Chr5:126555824 [GRCh38]
Chr5:125891516 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.129A>G (p.Lys43=) single nucleotide variant not provided [RCV000841235] Chr5:126595070 [GRCh38]
Chr5:125930762 [GRCh37]
Chr5:5q23.2
likely benign
NC_000005.10:g.126595498A>T single nucleotide variant not provided [RCV000836124] Chr5:126595498 [GRCh38]
Chr5:125931190 [GRCh37]
Chr5:5q23.2
likely benign
NC_000005.10:g.126595485A>T single nucleotide variant not provided [RCV000832447] Chr5:126595485 [GRCh38]
Chr5:125931177 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.193-92T>A single nucleotide variant not provided [RCV000832448] Chr5:126593496 [GRCh38]
Chr5:125929188 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.1093+123G>A single nucleotide variant not provided [RCV000839761] Chr5:126555808 [GRCh38]
Chr5:125891500 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.1129G>A (p.Ala377Thr) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000814857] Chr5:126554358 [GRCh38]
Chr5:125890050 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.332G>A (p.Gly111Glu) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000824644] Chr5:126583993 [GRCh38]
Chr5:125919685 [GRCh37]
Chr5:5q23.2
likely pathogenic
NM_001182.5(ALDH7A1):c.1094-280dup duplication not provided [RCV000826738] Chr5:126554665..126554666 [GRCh38]
Chr5:125890357..125890358 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.1490-243_1490-240del microsatellite not provided [RCV000837194] Chr5:126546639..126546642 [GRCh38]
Chr5:125882331..125882334 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.773+130A>G single nucleotide variant not provided [RCV000837541] Chr5:126570652 [GRCh38]
Chr5:125906344 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.871+196T>G single nucleotide variant not provided [RCV000837542] Chr5:126568063 [GRCh38]
Chr5:125903755 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.1200+178T>G single nucleotide variant not provided [RCV000837543] Chr5:126554109 [GRCh38]
Chr5:125889801 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.1490-283C>T single nucleotide variant not provided [RCV000830254] Chr5:126546682 [GRCh38]
Chr5:125882374 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.242G>T (p.Arg81Leu) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001058752] Chr5:126593355 [GRCh38]
Chr5:125929047 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.246+7GT[16] microsatellite Pyridoxine-dependent epilepsy [RCV000987595] Chr5:126593309..126593312 [GRCh38]
Chr5:125929001..125929004 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.1292C>T (p.Pro431Leu) single nucleotide variant not provided [RCV001090281] Chr5:126552046 [GRCh38]
Chr5:125887738 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.914-287A>G single nucleotide variant not provided [RCV000826737] Chr5:126559621 [GRCh38]
Chr5:125895313 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.*319T>G single nucleotide variant Pyridoxine-dependent epilepsy [RCV001151273] Chr5:126544646 [GRCh38]
Chr5:125880338 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.232G>A (p.Ala78Thr) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001151407] Chr5:126593365 [GRCh38]
Chr5:125929057 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.671C>T (p.Ser224Phe) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001054727] Chr5:126575444 [GRCh38]
Chr5:125911136 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.774-256C>G single nucleotide variant not provided [RCV000827989] Chr5:126568612 [GRCh38]
Chr5:125904304 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.359C>A (p.Ala120Asp) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000812172] Chr5:126583966 [GRCh38]
Chr5:125919658 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1490-47A>G single nucleotide variant not provided [RCV000833042] Chr5:126546446 [GRCh38]
Chr5:125882138 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.1318-261T>C single nucleotide variant not provided [RCV000830931] Chr5:126550554 [GRCh38]
Chr5:125886246 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.1566-156del deletion not provided [RCV000837202] Chr5:126545175 [GRCh38]
Chr5:125880867 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.650+198G>A single nucleotide variant not provided [RCV000837265] Chr5:126576881 [GRCh38]
Chr5:125912573 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.1201-27T>C single nucleotide variant not provided [RCV000829787] Chr5:126552164 [GRCh38]
Chr5:125887856 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.1415+85A>C single nucleotide variant not provided [RCV000829788] Chr5:126550111 [GRCh38]
Chr5:125885803 [GRCh37]
Chr5:5q23.2
benign
NC_000005.10:g.126595676A>T single nucleotide variant not provided [RCV000832036] Chr5:126595676 [GRCh38]
Chr5:125931368 [GRCh37]
Chr5:5q23.2
benign
NC_000005.10:g.126595684G>T single nucleotide variant not provided [RCV000827728] Chr5:126595684 [GRCh38]
Chr5:125931376 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.394-333A>G single nucleotide variant not provided [RCV000827730] Chr5:126583307 [GRCh38]
Chr5:125918999 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.650+300C>A single nucleotide variant not provided [RCV000827754] Chr5:126576779 [GRCh38]
Chr5:125912471 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.430G>A (p.Val144Met) single nucleotide variant Pyridoxine-dependent epilepsy [RCV000793210] Chr5:126582938 [GRCh38]
Chr5:125918630 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.696-56T>C single nucleotide variant not provided [RCV000832778] Chr5:126570915 [GRCh38]
Chr5:125906607 [GRCh37]
Chr5:5q23.2
likely benign
GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3 copy number gain not provided [RCV000849289] Chr5:89949118..129317455 [GRCh37]
Chr5:5q14.3-23.3
pathogenic
NM_001182.5(ALDH7A1):c.1317+6A>G single nucleotide variant Pyridoxine-dependent epilepsy [RCV001056845] Chr5:126552015 [GRCh38]
Chr5:125887707 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.438A>C (p.Glu146Asp) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001231068] Chr5:126582930 [GRCh38]
Chr5:125918622 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.44C>T (p.Thr15Ile) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001215569] Chr5:126595155 [GRCh38]
Chr5:125930847 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.58G>A (p.Gly20Arg) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001240628] Chr5:126595141 [GRCh38]
Chr5:125930833 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.902A>G (p.Asn301Ser) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001226686] Chr5:126561094 [GRCh38]
Chr5:125896786 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1280A>G (p.Glu427Gly) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001214504] Chr5:126552058 [GRCh38]
Chr5:125887750 [GRCh37]
Chr5:5q23.2
likely pathogenic
NM_001182.5(ALDH7A1):c.1196G>T (p.Gly399Val) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001052728] Chr5:126554291 [GRCh38]
Chr5:125889983 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.651-3_651-1del deletion Pyridoxine-dependent epilepsy [RCV001218708] Chr5:126575465..126575467 [GRCh38]
Chr5:125911157..125911159 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.1384A>G (p.Lys462Glu) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001247498] Chr5:126550227 [GRCh38]
Chr5:125885919 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*3081C>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV001156516] Chr5:126541884 [GRCh38]
Chr5:125877576 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1139T>C (p.Met380Thr) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001212696] Chr5:126554348 [GRCh38]
Chr5:125890040 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.566G>A (p.Gly189Glu) single nucleotide variant not provided [RCV001090282] Chr5:126577163 [GRCh38]
Chr5:125912855 [GRCh37]
Chr5:5q23.2
likely pathogenic
NM_001182.5(ALDH7A1):c.1240G>A (p.Val414Met) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001061550] Chr5:126552098 [GRCh38]
Chr5:125887790 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1008+1G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV001061586] Chr5:126559239 [GRCh38]
Chr5:125894931 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.*2190T>C single nucleotide variant Pyridoxine-dependent epilepsy [RCV001154943] Chr5:126542775 [GRCh38]
Chr5:125878467 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*1492G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV001151147] Chr5:126543473 [GRCh38]
Chr5:125879165 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*1475C>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV001151148] Chr5:126543490 [GRCh38]
Chr5:125879182 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*1446G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV001151149] Chr5:126543519 [GRCh38]
Chr5:125879211 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.*1290C>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV001151151] Chr5:126543675 [GRCh38]
Chr5:125879367 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*2575T>C single nucleotide variant Pyridoxine-dependent epilepsy [RCV001152831] Chr5:126542390 [GRCh38]
Chr5:125878082 [GRCh37]
Chr5:5q23.2
benign
NM_001182.5(ALDH7A1):c.114G>A (p.Gln38=) single nucleotide variant not provided [RCV000978034] Chr5:126595085 [GRCh38]
Chr5:125930777 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.871+7G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV000872796] Chr5:126568252 [GRCh38]
Chr5:125903944 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.9C>A (p.Arg3=) single nucleotide variant not provided [RCV000926330] Chr5:126595190 [GRCh38]
Chr5:125930882 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.1566-14dup duplication not provided [RCV000977682] Chr5:126545027..126545028 [GRCh38]
Chr5:125880719..125880720 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.1466G>A (p.Gly489Glu) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001225689] Chr5:126549952 [GRCh38]
Chr5:125885644 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1549A>G (p.Met517Val) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001205583] Chr5:126546340 [GRCh38]
Chr5:125882032 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1301_1302del (p.Tyr434fs) deletion Pyridoxine-dependent epilepsy [RCV001070994] Chr5:126552036..126552037 [GRCh38]
Chr5:125887728..125887729 [GRCh37]
Chr5:5q23.2
pathogenic|likely pathogenic
NM_001182.5(ALDH7A1):c.1210C>T (p.Arg404Cys) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001155172] Chr5:126552128 [GRCh38]
Chr5:125887820 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.917T>C (p.Phe306Ser) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001205955] Chr5:126559331 [GRCh38]
Chr5:125895023 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1156G>A (p.Glu386Lys) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001224505] Chr5:126554331 [GRCh38]
Chr5:125890023 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.500C>T (p.Pro167Leu) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001156821] Chr5:126582868 [GRCh38]
Chr5:125918560 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.442C>G (p.Gln148Glu) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001241366] Chr5:126582926 [GRCh38]
Chr5:125918618 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1265C>G (p.Ser422Cys) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001235044] Chr5:126552073 [GRCh38]
Chr5:125887765 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.574A>G (p.Thr192Ala) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001210094] Chr5:126577155 [GRCh38]
Chr5:125912847 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*2603G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV001152830] Chr5:126542362 [GRCh38]
Chr5:125878054 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.1575C>G (p.Asn525Lys) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001210348] Chr5:126545010 [GRCh38]
Chr5:125880702 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.808C>T (p.Leu270=) single nucleotide variant not provided [RCV000935683] Chr5:126568322 [GRCh38]
Chr5:125904014 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.1410G>A (p.Trp470Ter) single nucleotide variant not provided [RCV001008016] Chr5:126550201 [GRCh38]
Chr5:125885893 [GRCh37]
Chr5:5q23.2
likely pathogenic
NM_001182.5(ALDH7A1):c.*2914A>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV001156518] Chr5:126542051 [GRCh38]
Chr5:125877743 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*2967T>C single nucleotide variant Pyridoxine-dependent epilepsy [RCV001156517] Chr5:126541998 [GRCh38]
Chr5:125877690 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.576G>A (p.Thr192=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001069379] Chr5:126577153 [GRCh38]
Chr5:125912845 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.982C>T (p.Gln328Ter) single nucleotide variant not provided [RCV001172166] Chr5:126559266 [GRCh38]
Chr5:125894958 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.*325A>G single nucleotide variant Pyridoxine-dependent epilepsy [RCV001151272] Chr5:126544640 [GRCh38]
Chr5:125880332 [GRCh37]
Chr5:5q23.2
likely benign
NM_001182.5(ALDH7A1):c.*21C>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV001151275] Chr5:126544944 [GRCh38]
Chr5:125880636 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*2564G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV001152832] Chr5:126542401 [GRCh38]
Chr5:125878093 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.19_32delinsCACATACTGAGCC (p.Ala7fs) indel Pyridoxine-dependent epilepsy [RCV001062835] Chr5:126595167..126595180 [GRCh38]
Chr5:125930859..125930872 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*931A>G single nucleotide variant Pyridoxine-dependent epilepsy [RCV001155061] Chr5:126544034 [GRCh38]
Chr5:125879726 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*1156C>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV001154221] Chr5:126543809 [GRCh38]
Chr5:125879501 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1566-4C>G single nucleotide variant Pyridoxine-dependent epilepsy [RCV001154335] Chr5:126545023 [GRCh38]
Chr5:125880715 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1554A>G (p.Arg518=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001154336] Chr5:126546335 [GRCh38]
Chr5:125882027 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*1058C>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV001155059] Chr5:126543907 [GRCh38]
Chr5:125879599 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.365G>A (p.Arg122Gln) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001067268] Chr5:126583960 [GRCh38]
Chr5:125919652 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.286A>G (p.Arg96Gly) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001064840] Chr5:126592690 [GRCh38]
Chr5:125928382 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.53T>C (p.Leu18Pro) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001047801] Chr5:126595146 [GRCh38]
Chr5:125930838 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1411C>T (p.Leu471Phe) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001048891] Chr5:126550200 [GRCh38]
Chr5:125885892 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1098T>G (p.Asn366Lys) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001050221] Chr5:126554389 [GRCh38]
Chr5:125890081 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1144C>T (p.Leu382Phe) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001230342] Chr5:126554343 [GRCh38]
Chr5:125890035 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.788A>G (p.Lys263Arg) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001069862] Chr5:126568342 [GRCh38]
Chr5:125904034 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.871G>T (p.Gly291Trp) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001069863] Chr5:126568259 [GRCh38]
Chr5:125903951 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*1053G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV001155060] Chr5:126543912 [GRCh38]
Chr5:125879604 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1347T>A (p.Asn449Lys) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001219881] Chr5:126550264 [GRCh38]
Chr5:125885956 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.907A>G (p.Ile303Val) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001051820] Chr5:126561089 [GRCh38]
Chr5:125896781 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.832G>T (p.Val278Leu) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001071798] Chr5:126568298 [GRCh38]
Chr5:125903990 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*1416A>C single nucleotide variant Pyridoxine-dependent epilepsy [RCV001151150] Chr5:126543549 [GRCh38]
Chr5:125879241 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.848G>A (p.Gly283Asp) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001236062] Chr5:126568282 [GRCh38]
Chr5:125903974 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.10C>T (p.Leu4Phe) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001218050] Chr5:126595189 [GRCh38]
Chr5:125930881 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1235C>T (p.Thr412Ile) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001036964]|Seizures [RCV001095642] Chr5:126552103 [GRCh38]
Chr5:125887795 [GRCh37]
Chr5:5q23.2
likely pathogenic|uncertain significance
NM_001182.5(ALDH7A1):c.1532A>G (p.Asp511Gly) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001045127] Chr5:126546357 [GRCh38]
Chr5:125882049 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*1288A>G single nucleotide variant Pyridoxine-dependent epilepsy [RCV001154219] Chr5:126543677 [GRCh38]
Chr5:125879369 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1244C>T (p.Thr415Ile) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001039017] Chr5:126552094 [GRCh38]
Chr5:125887786 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1348G>T (p.Glu450Ter) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001039106] Chr5:126550263 [GRCh38]
Chr5:125885955 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.1515C>A (p.Gly505=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001154338] Chr5:126546374 [GRCh38]
Chr5:125882066 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*1844A>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV001154944] Chr5:126543121 [GRCh38]
Chr5:125878813 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*2498C>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV001154108] Chr5:126542467 [GRCh38]
Chr5:125878159 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*2494T>C single nucleotide variant Pyridoxine-dependent epilepsy [RCV001154109] Chr5:126542471 [GRCh38]
Chr5:125878163 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*2370A>G single nucleotide variant Pyridoxine-dependent epilepsy [RCV001154110] Chr5:126542595 [GRCh38]
Chr5:125878287 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1608C>G (p.Ile536Met) single nucleotide variant not provided [RCV001092770] Chr5:126544977 [GRCh38]
Chr5:125880669 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1536C>T (p.Ala512=) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001154337] Chr5:126546353 [GRCh38]
Chr5:125882045 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1415+15A>G single nucleotide variant Pyridoxine-dependent epilepsy [RCV001154339] Chr5:126550181 [GRCh38]
Chr5:125885873 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.170G>C (p.Gly57Ala) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001154432] Chr5:126595029 [GRCh38]
Chr5:125930721 [GRCh37]
Chr5:5q23.2
uncertain significance
NC_000005.10:g.126595260C>T single nucleotide variant Pyridoxine-dependent epilepsy [RCV001155266] Chr5:126595260 [GRCh38]
Chr5:125930952 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.647T>C (p.Leu216Pro) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001063179] Chr5:126577082 [GRCh38]
Chr5:125912774 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*156G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV001151274] Chr5:126544809 [GRCh38]
Chr5:125880501 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.91_92del (p.Thr31fs) deletion Pyridoxine-dependent epilepsy [RCV001231545] Chr5:126595107..126595108 [GRCh38]
Chr5:125930799..125930800 [GRCh37]
Chr5:5q23.2
pathogenic
NM_001182.5(ALDH7A1):c.*704G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV001156720] Chr5:126544261 [GRCh38]
Chr5:125879953 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*352G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV001156721] Chr5:126544613 [GRCh38]
Chr5:125880305 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1579A>G (p.Ser527Gly) single nucleotide variant Pyridoxine-dependent epilepsy [RCV001204272] Chr5:126545006 [GRCh38]
Chr5:125880698 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1489+6T>C single nucleotide variant Pyridoxine-dependent epilepsy [RCV001229505] Chr5:126549923 [GRCh38]
Chr5:125885615 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.*1287G>A single nucleotide variant Pyridoxine-dependent epilepsy [RCV001154220] Chr5:126543678 [GRCh38]
Chr5:125879370 [GRCh37]
Chr5:5q23.2
uncertain significance
NM_001182.5(ALDH7A1):c.1507G>A (p.Gly503Ser) single nucleotide variant Intellectual disability [RCV001252143] Chr5:126546382 [GRCh38]
Chr5:125882074 [GRCh37]
Chr5:5q23.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:877 AgrOrtholog
COSMIC ALDH7A1 COSMIC
Ensembl Genes ENSG00000164904 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000387123 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000403929 UniProtKB/TrEMBL
  ENSP00000414536 UniProtKB/TrEMBL
  ENSP00000447388 UniProtKB/TrEMBL
  ENSP00000448593 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000449318 UniProtKB/TrEMBL
  ENSP00000487936 UniProtKB/TrEMBL
  ENSP00000487998 UniProtKB/TrEMBL
  ENSP00000488032 UniProtKB/TrEMBL
  ENSP00000489686 UniProtKB/TrEMBL
  ENSP00000489725 UniProtKB/TrEMBL
  ENSP00000489895 UniProtKB/TrEMBL
  ENSP00000490024 UniProtKB/TrEMBL
  ENSP00000490291 UniProtKB/TrEMBL
  ENSP00000490371 UniProtKB/TrEMBL
  ENSP00000490400 UniProtKB/TrEMBL
  ENSP00000490655 UniProtKB/TrEMBL
  ENSP00000490797 UniProtKB/TrEMBL
  ENSP00000490811 UniProtKB/TrEMBL
  ENSP00000490819 UniProtKB/TrEMBL
  ENSP00000490833 UniProtKB/TrEMBL
  ENSP00000490919 UniProtKB/TrEMBL
Ensembl Transcript ENST00000409134 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000412186 UniProtKB/TrEMBL
  ENST00000413020 UniProtKB/TrEMBL
  ENST00000458249 UniProtKB/TrEMBL
  ENST00000503281 UniProtKB/TrEMBL
  ENST00000509270 UniProtKB/TrEMBL
  ENST00000509459 UniProtKB/TrEMBL
  ENST00000510111 UniProtKB/TrEMBL
  ENST00000553117 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000635851 UniProtKB/TrEMBL
  ENST00000636225 UniProtKB/TrEMBL
  ENST00000636743 UniProtKB/TrEMBL
  ENST00000636808 UniProtKB/TrEMBL
  ENST00000636872 UniProtKB/TrEMBL
  ENST00000636879 UniProtKB/TrEMBL
  ENST00000636886 UniProtKB/TrEMBL
  ENST00000637206 UniProtKB/TrEMBL
  ENST00000637272 UniProtKB/TrEMBL
  ENST00000637292 UniProtKB/TrEMBL
  ENST00000637782 UniProtKB/TrEMBL
  ENST00000637964 UniProtKB/TrEMBL
  ENST00000638008 UniProtKB/TrEMBL
Gene3D-CATH 3.40.309.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.605.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000164904 GTEx
HGNC ID HGNC:877 ENTREZGENE
Human Proteome Map ALDH7A1 Human Proteome Map
InterPro Ald_DH/histidinol_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_DH_C 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:501 UniProtKB/Swiss-Prot
NCBI Gene 501 ENTREZGENE
OMIM 107323 OMIM
  266100 OMIM
Pfam Aldedh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24704 PharmGKB
PROSITE ALDEHYDE_DEHYDR_GLU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53720 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0J9YWF7_HUMAN UniProtKB/TrEMBL
  A0A0J9YWK1_HUMAN UniProtKB/TrEMBL
  A0A0J9YWM6_HUMAN UniProtKB/TrEMBL
  A0A1B0GTG2_HUMAN UniProtKB/TrEMBL
  A0A1B0GTJ4_HUMAN UniProtKB/TrEMBL
  A0A1B0GTY9_HUMAN UniProtKB/TrEMBL
  A0A1B0GUA1_HUMAN UniProtKB/TrEMBL
  A0A1B0GUY0_HUMAN UniProtKB/TrEMBL
  A0A1B0GV49_HUMAN UniProtKB/TrEMBL
  A0A1B0GVU0_HUMAN UniProtKB/TrEMBL
  A0A1B0GW65_HUMAN UniProtKB/TrEMBL
  A0A1B0GW77_HUMAN UniProtKB/TrEMBL
  A0A1B0GW82_HUMAN UniProtKB/TrEMBL
  AL7A1_HUMAN UniProtKB/Swiss-Prot
  F8VVF2_HUMAN UniProtKB/TrEMBL
  F8WD33_HUMAN UniProtKB/TrEMBL
  F8WDY6_HUMAN UniProtKB/TrEMBL
  H0YHM6_HUMAN UniProtKB/TrEMBL
  P49419 ENTREZGENE
UniProt Secondary B2R669 UniProtKB/Swiss-Prot
  B4DIC7 UniProtKB/Swiss-Prot
  B4DMA0 UniProtKB/Swiss-Prot
  E7EPT3 UniProtKB/Swiss-Prot
  O14619 UniProtKB/Swiss-Prot
  Q6IPU8 UniProtKB/Swiss-Prot
  Q9BUL4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 ALDH7A1  aldehyde dehydrogenase 7 family member A1    aldehyde dehydrogenase 7 family, member A1  Symbol and/or name change 5135510 APPROVED