ASL (argininosuccinate lyase) - Rat Genome Database

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Gene: ASL (argininosuccinate lyase) Homo sapiens
Analyze
Symbol: ASL
Name: argininosuccinate lyase
RGD ID: 731559
HGNC Page HGNC:746
Description: Enables argininosuccinate lyase activity and identical protein binding activity. Involved in arginine biosynthetic process and positive regulation of nitric oxide biosynthetic process. Located in extracellular exosome. Implicated in amino acid metabolic disorder and argininosuccinic aciduria. Biomarker of argininosuccinic aciduria; hepatocellular carcinoma; and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: argininosuccinase; arginosuccinase; ASAL
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: ASLP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38766,075,819 - 66,093,576 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl766,075,800 - 66,094,697 (+)EnsemblGRCh38hg38GRCh38
GRCh37765,540,806 - 65,558,563 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36765,178,211 - 65,195,765 (+)NCBINCBI36Build 36hg18NCBI36
Build 34764,984,963 - 65,002,090NCBI
Celera766,555,388 - 66,572,941 (-)NCBICelera
Cytogenetic Map7q11.21ENTREZGENE
HuRef761,727,625 - 61,745,174 (+)NCBIHuRef
CHM1_1765,636,440 - 65,653,994 (+)NCBICHM1_1
T2T-CHM13v2.0767,297,906 - 67,315,665 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2764,878,281 - 64,895,827 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (EXP)
acetylsalicylic acid  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
ammonium acetate  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bromobenzene  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroform  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
copper(II) sulfate  (EXP,ISO)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
diazinon  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (EXP)
dorsomorphin  (EXP)
elemental selenium  (EXP)
epoxiconazole  (ISO)
fenthion  (ISO)
folic acid  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
indometacin  (EXP)
isoniazide  (ISO)
ivermectin  (EXP)
lead diacetate  (ISO)
lipopolysaccharide  (ISO)
metformin  (ISO)
methamphetamine  (ISO)
methotrexate  (ISO)
N-nitrosomorpholine  (ISO)
nickel dichloride  (ISO)
ochratoxin A  (ISO)
oxycodone  (ISO)
ozone  (ISO)
paracetamol  (ISO)
parathion  (ISO)
perfluorooctanoic acid  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
pirinixic acid  (EXP,ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
quercetin  (ISO)
rac-lactic acid  (EXP)
rotenone  (ISO)
sarin  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
sevoflurane  (ISO)
silibinin  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
tetrachloromethane  (ISO)
tetracycline  (ISO)
theophylline  (ISO)
thioacetamide  (ISO)
triphenyl phosphate  (ISO)
Triptolide  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
zidovudine  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Decreased urea synthesis in cafeteria-diet-induced obesity in the rat. Barber T, etal., Biochem J. 1985 Sep 15;230(3):675-81.
2. Transient ischemia increases neuronal nitric oxide synthase, argininosuccinate synthetase and argininosuccinate lyase co-expression in rat striatal neurons. Bizzoco E, etal., Exp Neurol. 2006 Dec 30;.
3. Hyperammonemia: regulation of argininosuccinate synthetase and argininosuccinate lyase genes in aggregating cell cultures of fetal rat brain. Braissant O, etal., Neurosci Lett. 1999 May 7;266(2):89-92.
4. Significant Down-Regulation of Urea Cycle Generates Clinically Relevant Proteomic Signature in Hepatocellular Carcinoma Patients with Macrovascular Invasion. Cao Y, etal., J Proteome Res. 2019 May 3;18(5):2032-2044. doi: 10.1021/acs.jproteome.8b00921. Epub 2019 Mar 29.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
7. Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. Kleijer WJ, etal., J Inherit Metab Dis 2002 Sep;25(5):399-410.
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
11. Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. Rao PV, etal., J Assoc Physicians India. 2005 Jun;53:521-6.
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
15. Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria. Saheki T, etal., Enzyme. 1987;38(1-4):227-32.
16. Nitric oxide (no), citrulline - no cycle enzymes, glutamine synthetase and oxidative stress in anoxia (hypobaric hypoxia) and reperfusion in rat brain. Swamy M, etal., Int J Med Sci. 2010 May 31;7(3):147-54.
17. Regulation of genes for inducible nitric oxide synthase and urea cycle enzymes in rat liver in endotoxin shock. Tabuchi S, etal., Biochem Biophys Res Commun. 2000 Feb 5;268(1):221-4.
18. Messenger RNA profiles in liver injury and stress: a comparison of lethal and nonlethal rat models. Tygstrup N, etal., Biochem Biophys Res Commun 2002 Jan 11;290(1):518-25.
19. L-Citrulline attenuates arrested alveolar growth and pulmonary hypertension in oxygen-induced lung injury in newborn rats. Vadivel A, etal., Pediatr Res. 2010 Aug 27.
20. Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region. Walker DC, etal., Proc Natl Acad Sci U S A 1990 Dec;87(24):9625-9.
Additional References at PubMed
PMID:282632   PMID:1302001   PMID:1705937   PMID:2045097   PMID:2644168   PMID:3368457   PMID:3391281   PMID:3463959   PMID:6784763   PMID:9045711   PMID:9256435   PMID:11747432  
PMID:11747433   PMID:12384776   PMID:12477932   PMID:12512996   PMID:15489334   PMID:16189514   PMID:17326097   PMID:19056867   PMID:19703900   PMID:20167786   PMID:20301396   PMID:20739017  
PMID:20937351   PMID:21290785   PMID:21667091   PMID:21873635   PMID:21988832   PMID:22081021   PMID:22531684   PMID:22863883   PMID:23824909   PMID:24136197   PMID:24166829   PMID:24927999  
PMID:25416956   PMID:25502805   PMID:25778938   PMID:26167880   PMID:26397737   PMID:26871637   PMID:27840980   PMID:28035420   PMID:28981931   PMID:28986522   PMID:31018905   PMID:31183366  
PMID:31515488   PMID:31943503   PMID:32296183   PMID:32410394   PMID:33846069   PMID:33851512   PMID:35256949   PMID:35831314   PMID:36215168   PMID:36470425   PMID:37490345  


Genomics

Comparative Map Data
ASL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38766,075,819 - 66,093,576 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl766,075,800 - 66,094,697 (+)EnsemblGRCh38hg38GRCh38
GRCh37765,540,806 - 65,558,563 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36765,178,211 - 65,195,765 (+)NCBINCBI36Build 36hg18NCBI36
Build 34764,984,963 - 65,002,090NCBI
Celera766,555,388 - 66,572,941 (-)NCBICelera
Cytogenetic Map7q11.21ENTREZGENE
HuRef761,727,625 - 61,745,174 (+)NCBIHuRef
CHM1_1765,636,440 - 65,653,994 (+)NCBICHM1_1
T2T-CHM13v2.0767,297,906 - 67,315,665 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2764,878,281 - 64,895,827 (+)NCBI
Asl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395130,040,099 - 130,053,222 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5130,040,099 - 130,058,088 (-)EnsemblGRCm39 Ensembl
GRCm385130,011,258 - 130,024,381 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5130,011,258 - 130,029,247 (-)EnsemblGRCm38mm10GRCm38
MGSCv375130,487,373 - 130,500,201 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365130,296,206 - 130,309,034 (-)NCBIMGSCv36mm8
Celera5127,015,654 - 127,028,488 (-)NCBICelera
Cytogenetic Map5G1.3NCBI
cM Map568.37NCBI
Asl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81232,295,779 - 32,313,257 (+)NCBIGRCr8
mRatBN7.21226,659,664 - 26,677,136 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1226,659,565 - 26,679,662 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1227,807,557 - 27,824,901 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01228,418,086 - 28,435,430 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01227,479,553 - 27,496,930 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01230,160,922 - 30,178,348 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1230,165,694 - 30,178,341 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01232,097,760 - 32,115,110 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41227,702,882 - 27,720,230 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11227,570,168 - 27,583,445 (+)NCBI
Celera1228,373,639 - 28,390,987 (+)NCBICelera
Cytogenetic Map12q12NCBI
Asl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554568,411,220 - 8,416,992 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554568,409,767 - 8,419,915 (-)NCBIChiLan1.0ChiLan1.0
ASL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2681,389,044 - 81,406,476 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17129,716,194 - 129,736,310 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0759,908,648 - 59,948,822 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1773,181,115 - 73,219,243 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl773,142,842 - 73,157,472 (+)Ensemblpanpan1.1panPan2
PanPan1.1 Ensembl773,181,170 - 73,219,243 (+)NCBIpanpan1.1panPan2
PanPan1.1 Ensembl773,181,170 - 73,219,243 (+)Ensemblpanpan1.1panPan2
ASL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.16768,522 - 779,144 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl6730,358 - 779,424 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha62,468,962 - 2,479,644 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.06573,409 - 584,014 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl6565,544 - 584,326 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.16517,146 - 527,808 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.06511,138 - 521,729 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.06682,422 - 693,029 (-)NCBIUU_Cfam_GSD_1.0
Asl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344126,336,725 - 126,347,816 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365437,688,741 - 7,699,851 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365437,688,788 - 7,699,842 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ASL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl316,637,481 - 16,646,867 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1316,637,481 - 16,646,869 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2316,889,701 - 16,899,549 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ASL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1281,782,434 - 1,800,581 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl281,782,553 - 1,802,517 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607014,846,508 - 14,865,029 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Asl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247408,414,733 - 8,423,777 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247408,414,664 - 8,423,797 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ASL
576 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000048.4(ASL):c.135C>T (p.Tyr45=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000526631] Chr7:66081925 [GRCh38]
Chr7:65546912 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.740C>T (p.Ser247Leu) single nucleotide variant Argininosuccinate lyase deficiency [RCV000554882]|not provided [RCV001562220] Chr7:66088828 [GRCh38]
Chr7:65553815 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic|uncertain significance
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter) single nucleotide variant Argininosuccinate lyase deficiency [RCV000020415]|not provided [RCV000078007] Chr7:66089693 [GRCh38]
Chr7:65554680 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.346C>T (p.Gln116Ter) single nucleotide variant Argininosuccinate lyase deficiency [RCV000020416] Chr7:66082934 [GRCh38]
Chr7:65547921 [GRCh37]
Chr7:7q11.21
pathogenic|not provided
NM_000048.4(ASL):c.283C>T (p.Arg95Cys) single nucleotide variant Argininosuccinate lyase deficiency [RCV000002499] Chr7:66082443 [GRCh38]
Chr7:65547430 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.857A>G (p.Gln286Arg) single nucleotide variant Argininosuccinate lyase deficiency [RCV000002500]|not provided [RCV000078017] Chr7:66089114 [GRCh38]
Chr7:65554101 [GRCh37]
Chr7:7q11.21
pathogenic
ASL, IVS5DS, G-A, +1 single nucleotide variant Argininosuccinate lyase deficiency [RCV000002501] Chr7cen-:7cen-q11.2 pathogenic
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) single nucleotide variant Argininosuccinate lyase deficiency [RCV000002502] Chr7:66092566 [GRCh38]
Chr7:65557553 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000048.4(ASL):c.532G>A (p.Val178Met) single nucleotide variant Argininosuccinate lyase deficiency [RCV000002503]|not provided [RCV000723377] Chr7:66086751 [GRCh38]
Chr7:65551738 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys) single nucleotide variant Argininosuccinate lyase deficiency [RCV000002504]|not provided [RCV000185769] Chr7:66092078 [GRCh38]
Chr7:65557065 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 7q11.21-11.22(chr7:62570287-67823956)x3 copy number gain See cases [RCV000050687] Chr7:62570287..67823956 [GRCh38]
Chr7:62030665..67288943 [GRCh37]
Chr7:61668100..66926378 [NCBI36]
Chr7:7q11.21-11.22
pathogenic
GRCh38/hg38 7q11.21-11.22(chr7:64657050-72243063)x1 copy number loss See cases [RCV000050606] Chr7:64657050..72243063 [GRCh38]
Chr7:64117428..71708048 [GRCh37]
Chr7:63754863..71345984 [NCBI36]
Chr7:7q11.21-11.22
pathogenic
GRCh38/hg38 7q11.21-21.11(chr7:64560824-79186156)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|See cases [RCV000052318] Chr7:64560824..79186156 [GRCh38]
Chr7:64021202..78815472 [GRCh37]
Chr7:63658637..78653408 [NCBI36]
Chr7:7q11.21-21.11
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q11.21(chr7:65906534-66769743)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053442]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053442]|See cases [RCV000053442] Chr7:65906534..66769743 [GRCh38]
Chr7:65371521..66234730 [GRCh37]
Chr7:65008956..65872165 [NCBI36]
Chr7:7q11.21
uncertain significance
GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3 copy number gain See cases [RCV000053534] Chr7:53274059..68576213 [GRCh38]
Chr7:53341752..68041200 [GRCh37]
Chr7:53309246..67679136 [NCBI36]
Chr7:7p12.1-q11.22
pathogenic
NM_000048.4(ASL):c.1164C>T (p.His388=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000331556]|not provided [RCV000421545]|not specified [RCV000116419] Chr7:66092577 [GRCh38]
Chr7:65557564 [GRCh37]
Chr7:7q11.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.280C>T (p.Arg94Cys) single nucleotide variant Argininosuccinate lyase deficiency [RCV000178026]|not provided [RCV000790828] Chr7:66082440 [GRCh38]
Chr7:65547427 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) single nucleotide variant ASL-related condition [RCV003415843]|Argininosuccinate lyase deficiency [RCV000193312]|Inborn genetic diseases [RCV002514370]|not provided [RCV000078010] Chr7:66081825 [GRCh38]
Chr7:65546812 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000048.4(ASL):c.446+1G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV000409952]|not provided [RCV000078011] Chr7:66083175 [GRCh38]
Chr7:65548162 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.544C>T (p.Arg182Ter) single nucleotide variant Argininosuccinate lyase deficiency [RCV000194332]|not provided [RCV000078012] Chr7:66086763 [GRCh38]
Chr7:65551750 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.576G>A (p.Lys192=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000634857]|not provided [RCV001535399]|not specified [RCV000078013] Chr7:66086795 [GRCh38]
Chr7:65551782 [GRCh37]
Chr7:7q11.21
benign|likely benign|conflicting interpretations of pathogenicity
NM_000048.4(ASL):c.602+13C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV000362818]|not provided [RCV001647047]|not specified [RCV000078014] Chr7:66086834 [GRCh38]
Chr7:65551821 [GRCh37]
Chr7:7q11.21
benign|likely benign
NM_000048.4(ASL):c.602+1G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV000672800]|not provided [RCV000078015] Chr7:66086822 [GRCh38]
Chr7:65551809 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.846C>G (p.Ser282Arg) single nucleotide variant not provided [RCV000078016] Chr7:66089103 [GRCh38]
Chr7:65554090 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.976C>A (p.Gln326Lys) single nucleotide variant Argininosuccinate lyase deficiency [RCV001342759]|not provided [RCV000078018] Chr7:66089333 [GRCh38]
Chr7:65554320 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.556C>A (p.Arg186=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001084648]|not provided [RCV000425778]|not specified [RCV000123693] Chr7:66086775 [GRCh38]
Chr7:65551762 [GRCh37]
Chr7:7q11.21
benign|likely benign
NM_000048.4(ASL):c.978+63C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV001554121]|not provided [RCV001655888] Chr7:66089398 [GRCh38]
Chr7:65554385 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.837G>C (p.Thr279=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001432385]|not provided [RCV000174210] Chr7:66089094 [GRCh38]
Chr7:65554081 [GRCh37]
Chr7:7q11.21
likely benign|uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q11.21(chr7:65835271-66837033)x3 copy number gain See cases [RCV000139628] Chr7:65835271..66837033 [GRCh38]
Chr7:65300258..66302020 [GRCh37]
Chr7:64937693..65939455 [NCBI36]
Chr7:7q11.21
likely benign
GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3 copy number gain See cases [RCV000142242] Chr7:62977085..75415352 [GRCh38]
Chr7:62437463..75044630 [GRCh37]
Chr7:62074898..74882566 [NCBI36]
Chr7:7q11.21-11.23
pathogenic
GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1 copy number loss See cases [RCV000142528] Chr7:62736364..75432710 [GRCh38]
Chr7:62196742..75061986 [GRCh37]
Chr7:61834177..74899922 [NCBI36]
Chr7:7q11.21-11.23
pathogenic
GRCh38/hg38 7q11.21(chr7:62977012-66848675) copy number gain See cases [RCV000143449] Chr7:62977012..66848675 [GRCh38]
Chr7:62437390..66313662 [GRCh37]
Chr7:62074825..65951097 [NCBI36]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.503G>A (p.Arg168His) single nucleotide variant Argininosuccinate lyase deficiency [RCV000667843]|not provided [RCV000152800] Chr7:66086641 [GRCh38]
Chr7:65551628 [GRCh37]
Chr7:7q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.1204G>T (p.Gly402Trp) single nucleotide variant Argininosuccinate lyase deficiency [RCV001303415]|not provided [RCV000152801]|not specified [RCV003317100] Chr7:66092617 [GRCh38]
Chr7:65557604 [GRCh37]
Chr7:7q11.21
pathogenic|uncertain significance
NM_000048.4(ASL):c.467C>T (p.Pro156Leu) single nucleotide variant Argininosuccinate lyase deficiency [RCV001239790]|not provided [RCV000179702] Chr7:66086605 [GRCh38]
Chr7:65551592 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic|uncertain significance
NM_000048.4(ASL):c.502C>T (p.Arg168Cys) single nucleotide variant not provided [RCV000179703] Chr7:66086640 [GRCh38]
Chr7:65551627 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.640G>C (p.Glu214Gln) single nucleotide variant not provided [RCV000180457] Chr7:66087371 [GRCh38]
Chr7:65552358 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.614C>T (p.Ala205Val) single nucleotide variant Argininosuccinate lyase deficiency [RCV000634853] Chr7:66087345 [GRCh38]
Chr7:65552332 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic|uncertain significance
NM_000048.4(ASL):c.688A>G (p.Met230Val) single nucleotide variant Argininosuccinate lyase deficiency [RCV001998138] Chr7:66087761 [GRCh38]
Chr7:65552748 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic|uncertain significance
NM_000048.3(ASL):c.979G>A (p.Glu327Lys) single nucleotide variant not specified [RCV000185768] Chr7:66089612 [GRCh38]
Chr7:65554599 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.3(ASL):c.1348T>G (p.Trp450Gly) single nucleotide variant not specified [RCV000185773] Chr7:66092865 [GRCh38]
Chr7:65557852 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.392C>T (p.Thr131Met) single nucleotide variant Argininosuccinate lyase deficiency [RCV000987893]|not specified [RCV000185776] Chr7:66083120 [GRCh38]
Chr7:65548107 [GRCh37]
Chr7:7q11.21
benign|likely benign|uncertain significance
NM_000048.4(ASL):c.571C>T (p.Arg191Trp) single nucleotide variant Argininosuccinate lyase deficiency [RCV001805129]|not provided [RCV000514327] Chr7:66086790 [GRCh38]
Chr7:65551777 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic|uncertain significance
NM_000048.4(ASL):c.507G>C (p.Trp169Cys) single nucleotide variant Argininosuccinate lyase deficiency [RCV000674567] Chr7:66086645 [GRCh38]
Chr7:65551632 [GRCh37]
Chr7:7q11.21
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) single nucleotide variant Argininosuccinate lyase deficiency [RCV000454306] Chr7:66086764 [GRCh38]
Chr7:65551751 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.649C>T (p.Arg217Ter) single nucleotide variant Argininosuccinate lyase deficiency [RCV000668606]|not provided [RCV000185765] Chr7:66087380 [GRCh38]
Chr7:65552367 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.925G>A (p.Gly309Arg) single nucleotide variant Argininosuccinate lyase deficiency [RCV003230904] Chr7:66089282 [GRCh38]
Chr7:65554269 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.1193C>A (p.Ala398Asp) single nucleotide variant Argininosuccinate lyase deficiency [RCV001892645] Chr7:66092606 [GRCh38]
Chr7:65557593 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.3(ASL):c.1247T>C (p.Ile416Thr) single nucleotide variant not provided [RCV000185771] Chr7:66092660 [GRCh38]
Chr7:65557647 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.1297A>C (p.Ser433Arg) single nucleotide variant Argininosuccinate lyase deficiency [RCV000669888] Chr7:66092814 [GRCh38]
Chr7:65557801 [GRCh37]
Chr7:7q11.21
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000048.3(ASL):c.1369G>C (p.Ala457Pro) single nucleotide variant not provided [RCV000185774] Chr7:66092886 [GRCh38]
Chr7:65557873 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.291+1G>T single nucleotide variant Argininosuccinate lyase deficiency [RCV000411012] Chr7:66082452 [GRCh38]
Chr7:65547439 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.436C>T (p.Arg146Trp) single nucleotide variant ASL-related condition [RCV003422083]|Argininosuccinate lyase deficiency [RCV001047877] Chr7:66083164 [GRCh38]
Chr7:65548151 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.437G>A (p.Arg146Gln) single nucleotide variant Argininosuccinate lyase deficiency [RCV000673353] Chr7:66083165 [GRCh38]
Chr7:65548152 [GRCh37]
Chr7:7q11.21
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.533_557dup (p.Arg186_Leu187insGlyThrAspProArgLeuTer) duplication Argininosuccinate lyase deficiency [RCV001852415]|not provided [RCV000185779] Chr7:66086749..66086750 [GRCh38]
Chr7:65551736..65551737 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.1045_1057del (p.Val349fs) deletion Argininosuccinate lyase deficiency [RCV000668476]|Neurodevelopmental disorder [RCV001375026]|not provided [RCV000185780] Chr7:66089676..66089688 [GRCh38]
Chr7:65554663..65554675 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.1079T>C (p.Met360Thr) single nucleotide variant Argininosuccinate lyase deficiency [RCV000211672] Chr7:66092022 [GRCh38]
Chr7:65557009 [GRCh37]
Chr7:7q11.21
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.1122dup (p.Tyr375fs) duplication Argininosuccinate lyase deficiency [RCV000210546] Chr7:66092063..66092064 [GRCh38]
Chr7:65557050..65557051 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.524+2T>G single nucleotide variant Argininosuccinate lyase deficiency [RCV000210554] Chr7:66086664 [GRCh38]
Chr7:65551651 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.461T>C (p.Leu154Pro) single nucleotide variant Argininosuccinate lyase deficiency [RCV000210597] Chr7:66086599 [GRCh38]
Chr7:65551586 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.175G>A (p.Glu59Lys) single nucleotide variant Argininosuccinate lyase deficiency [RCV000210603]|not provided [RCV000489282] Chr7:66081965 [GRCh38]
Chr7:65546952 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.762C>A (p.Ser254Arg) single nucleotide variant Argininosuccinate lyase deficiency [RCV000210606] Chr7:66088850 [GRCh38]
Chr7:65553837 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.1360C>T (p.Gln454Ter) single nucleotide variant Argininosuccinate lyase deficiency [RCV000210614] Chr7:66092877 [GRCh38]
Chr7:65557864 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.257A>C (p.Glu86Ala) single nucleotide variant Argininosuccinate lyase deficiency [RCV000210647] Chr7:66082417 [GRCh38]
Chr7:65547404 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.575_580dup (p.Lys192_Arg193dup) duplication Argininosuccinate lyase deficiency [RCV000210669] Chr7:66086788..66086789 [GRCh38]
Chr7:65551775..65551776 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.889C>T (p.Arg297Trp) single nucleotide variant Argininosuccinate lyase deficiency [RCV000210677] Chr7:66089146 [GRCh38]
Chr7:65554133 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.718+5G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV000210713] Chr7:66087796 [GRCh38]
Chr7:65552783 [GRCh37]
Chr7:7q11.21
pathogenic|conflicting interpretations of pathogenicity
NM_000048.3(ASL):c.292delG deletion Argininosuccinate lyase deficiency [RCV000210718] Chr7:66082879 [GRCh38]
Chr7:65547866 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.292G>T (p.Glu98Ter) single nucleotide variant Argininosuccinate lyase deficiency [RCV000668876] Chr7:66082880 [GRCh38]
Chr7:65547867 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.916C>T (p.Arg306Trp) single nucleotide variant Argininosuccinate lyase deficiency [RCV000668950] Chr7:66089173 [GRCh38]
Chr7:65554160 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.446+2T>C single nucleotide variant Argininosuccinate lyase deficiency [RCV000669012] Chr7:66083176 [GRCh38]
Chr7:65548163 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.1164C>G (p.His388Gln) single nucleotide variant Argininosuccinate lyase deficiency [RCV000668951] Chr7:66092577 [GRCh38]
Chr7:65557564 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.918+5G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV000669803] Chr7:66089180 [GRCh38]
Chr7:65554167 [GRCh37]
Chr7:7q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.890G>A (p.Arg297Gln) single nucleotide variant Argininosuccinate lyase deficiency [RCV000669909] Chr7:66089147 [GRCh38]
Chr7:65554134 [GRCh37]
Chr7:7q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.*265C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV000280591]|not provided [RCV001675872] Chr7:66093177 [GRCh38]
Chr7:65558164 [GRCh37]
Chr7:7q11.21
benign|likely benign
NM_000048.4(ASL):c.718+14A>T single nucleotide variant Argininosuccinate lyase deficiency [RCV000309244]|not provided [RCV001723830]|not specified [RCV000244466] Chr7:66087805 [GRCh38]
Chr7:65552792 [GRCh37]
Chr7:7q11.21
benign|likely benign
NM_000048.4(ASL):c.*323G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV000284003]|not provided [RCV001675873] Chr7:66093235 [GRCh38]
Chr7:65558222 [GRCh37]
Chr7:7q11.21
benign|likely benign
NM_000048.4(ASL):c.-44+9G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV000300896]|not specified [RCV000602830] Chr7:66075865 [GRCh38]
Chr7:65540852 [GRCh37]
Chr7:7q11.21
likely benign|uncertain significance
NM_000048.4(ASL):c.1278C>T (p.Cys426=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000315821] Chr7:66092795 [GRCh38]
Chr7:65557782 [GRCh37]
Chr7:7q11.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.*11A>G single nucleotide variant Argininosuccinate lyase deficiency [RCV000372755] Chr7:66092923 [GRCh38]
Chr7:65557910 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.656-5C>A single nucleotide variant Argininosuccinate lyase deficiency [RCV000270532]|not specified [RCV000615463] Chr7:66087724 [GRCh38]
Chr7:65552711 [GRCh37]
Chr7:7q11.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.*268G>C single nucleotide variant Argininosuccinate lyase deficiency [RCV000337858]|not provided [RCV001636993] Chr7:66093180 [GRCh38]
Chr7:65558167 [GRCh37]
Chr7:7q11.21
benign|likely benign
NM_000048.4(ASL):c.*287C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV000376164]|not provided [RCV001613202] Chr7:66093199 [GRCh38]
Chr7:65558186 [GRCh37]
Chr7:7q11.21
benign|likely benign
NM_000048.4(ASL):c.1270G>A (p.Val424Met) single nucleotide variant Argininosuccinate lyase deficiency [RCV000277140] Chr7:66092787 [GRCh38]
Chr7:65557774 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.-31G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV000339407]|not specified [RCV000444828] Chr7:66076051 [GRCh38]
Chr7:65541038 [GRCh37]
Chr7:7q11.21
likely benign|uncertain significance
NM_000048.4(ASL):c.1026G>C (p.Val342=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000366385] Chr7:66089659 [GRCh38]
Chr7:65554646 [GRCh37]
Chr7:7q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.332G>A (p.Arg111Gln) single nucleotide variant Argininosuccinate lyase deficiency [RCV000668710]|not provided [RCV000493464] Chr7:66082920 [GRCh38]
Chr7:65547907 [GRCh37]
Chr7:7q11.21
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.207G>A (p.Lys69=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001328963]|not provided [RCV000385331] Chr7:66081997 [GRCh38]
Chr7:65546984 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1124A>G (p.Tyr375Cys) single nucleotide variant Argininosuccinate lyase deficiency [RCV000274099]|not specified [RCV003230485] Chr7:66092067 [GRCh38]
Chr7:65557054 [GRCh37]
Chr7:7q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.839G>A (p.Gly280Glu) single nucleotide variant Argininosuccinate lyase deficiency [RCV000669138]|not provided [RCV000489046] Chr7:66089096 [GRCh38]
Chr7:65554083 [GRCh37]
Chr7:7q11.21
likely pathogenic|uncertain significance
NM_000048.4(ASL):c.637C>T (p.Arg213Ter) single nucleotide variant Argininosuccinate lyase deficiency [RCV000588753]|not provided [RCV000489563] Chr7:66087368 [GRCh38]
Chr7:65552355 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.978G>C (p.Gln326His) single nucleotide variant Argininosuccinate lyase deficiency [RCV001836830]|not provided [RCV000489610] Chr7:66089335 [GRCh38]
Chr7:65554322 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.530C>G (p.Ala177Gly) single nucleotide variant Argininosuccinate lyase deficiency [RCV001559202] Chr7:66086749 [GRCh38]
Chr7:65551736 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.155C>T (p.Ala52Val) single nucleotide variant Argininosuccinate lyase deficiency [RCV000305746] Chr7:66081945 [GRCh38]
Chr7:65546932 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.978+46G>T single nucleotide variant not provided [RCV001672889]|not specified [RCV000592700] Chr7:66089381 [GRCh38]
Chr7:65554368 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.299T>C (p.Ile100Thr) single nucleotide variant Argininosuccinate lyase deficiency [RCV000587929]|not provided [RCV001576060] Chr7:66082887 [GRCh38]
Chr7:65547874 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.722A>C (p.Glu241Ala) single nucleotide variant Argininosuccinate lyase deficiency [RCV000634854] Chr7:66088810 [GRCh38]
Chr7:65553797 [GRCh37]
Chr7:7q11.21
pathogenic|uncertain significance
NM_000048.4(ASL):c.539T>G (p.Leu180Arg) single nucleotide variant not provided [RCV000414625] Chr7:66086758 [GRCh38]
Chr7:65551745 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.675C>G (p.Ile225Met) single nucleotide variant Argininosuccinate lyase deficiency [RCV000539996] Chr7:66087748 [GRCh38]
Chr7:65552735 [GRCh37]
Chr7:7q11.21
likely pathogenic|uncertain significance
NM_000048.4(ASL):c.578G>A (p.Arg193Gln) single nucleotide variant Argininosuccinate lyase deficiency [RCV000609637]|not provided [RCV000413440] Chr7:66086797 [GRCh38]
Chr7:65551784 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000048.4(ASL):c.291+7C>G single nucleotide variant Argininosuccinate lyase deficiency [RCV000915319]|not specified [RCV000427329] Chr7:66082458 [GRCh38]
Chr7:65547445 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.524+12G>T single nucleotide variant Argininosuccinate lyase deficiency [RCV002059735]|not specified [RCV000434168] Chr7:66086674 [GRCh38]
Chr7:65551661 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1345G>A (p.Asp449Asn) single nucleotide variant Argininosuccinate lyase deficiency [RCV001828397]|not provided [RCV000444615] Chr7:66092862 [GRCh38]
Chr7:65557849 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.718+3G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV002522584]|not provided [RCV001696764] Chr7:66087794 [GRCh38]
Chr7:65552781 [GRCh37]
Chr7:7q11.21
likely benign|uncertain significance
NM_000048.4(ASL):c.656-14T>A single nucleotide variant not specified [RCV000421564] Chr7:66087715 [GRCh38]
Chr7:65552702 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1143+13C>A single nucleotide variant Argininosuccinate lyase deficiency [RCV002519563]|not specified [RCV000435993] Chr7:66092099 [GRCh38]
Chr7:65557086 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.-44+10C>T single nucleotide variant not specified [RCV000425673] Chr7:66075866 [GRCh38]
Chr7:65540853 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1062+16C>G single nucleotide variant Argininosuccinate lyase deficiency [RCV001519262]|not specified [RCV000429318] Chr7:66089711 [GRCh38]
Chr7:65554698 [GRCh37]
Chr7:7q11.21
benign|likely benign
NM_000048.4(ASL):c.162C>T (p.Leu54=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000873168]|not provided [RCV001311281]|not specified [RCV000443487] Chr7:66081952 [GRCh38]
Chr7:65546939 [GRCh37]
Chr7:7q11.21
benign|likely benign
NM_000048.4(ASL):c.183C>T (p.Asp61=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000541521]|not provided [RCV001704464] Chr7:66081973 [GRCh38]
Chr7:65546960 [GRCh37]
Chr7:7q11.21
benign|likely benign
NM_000048.4(ASL):c.833+4A>G single nucleotide variant Argininosuccinate lyase deficiency [RCV002522465]|not specified [RCV000444409] Chr7:66088925 [GRCh38]
Chr7:65553912 [GRCh37]
Chr7:7q11.21
likely benign|uncertain significance
NM_000048.4(ASL):c.927G>T (p.Gly309=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000876074]|not provided [RCV001721345] Chr7:66089284 [GRCh38]
Chr7:65554271 [GRCh37]
Chr7:7q11.21
benign|likely benign
NM_000048.4(ASL):c.399G>A (p.Ser133=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000872948]|not specified [RCV000430810] Chr7:66083127 [GRCh38]
Chr7:65548114 [GRCh37]
Chr7:7q11.21
likely benign|conflicting interpretations of pathogenicity
NM_000048.4(ASL):c.309G>A (p.Thr103=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000634863]|not provided [RCV001721376] Chr7:66082897 [GRCh38]
Chr7:65547884 [GRCh37]
Chr7:7q11.21
benign|likely benign
NM_000048.4(ASL):c.978+15dup duplication Argininosuccinate lyase deficiency [RCV002063687]|not specified [RCV000483751] Chr7:66089345..66089346 [GRCh38]
Chr7:65554332..65554333 [GRCh37]
Chr7:7q11.21
benign|likely benign
NM_000048.4(ASL):c.978+15_978+17delinsAA indel not specified [RCV000482461] Chr7:66089350..66089352 [GRCh38]
Chr7:65554337..65554339 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1141G>C (p.Gly381Arg) single nucleotide variant not provided [RCV000498761]|not specified [RCV003403152] Chr7:66092084 [GRCh38]
Chr7:65557071 [GRCh37]
Chr7:7q11.21
likely pathogenic|uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q11.21-11.22(chr7:63583563-71047246)x1 copy number loss See cases [RCV000511553] Chr7:63583563..71047246 [GRCh37]
Chr7:7q11.21-11.22
pathogenic
GRCh37/hg19 7q11.21(chr7:65470729-66599216)x3 copy number gain See cases [RCV000511704] Chr7:65470729..66599216 [GRCh37]
Chr7:7q11.21
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000048.4(ASL):c.94_100del (p.Arg32fs) deletion Argininosuccinate lyase deficiency [RCV000533317] Chr7:66081883..66081889 [GRCh38]
Chr7:65546870..65546876 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.90C>T (p.Tyr30=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000634862]|not provided [RCV003432671] Chr7:66081880 [GRCh38]
Chr7:65546867 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.693T>C (p.Asp231=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000634859] Chr7:66087766 [GRCh38]
Chr7:65552753 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.656-4C>G single nucleotide variant Argininosuccinate lyase deficiency [RCV000634858] Chr7:66087725 [GRCh38]
Chr7:65552712 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.159G>A (p.Gly53=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001431902]|not specified [RCV000609515] Chr7:66081949 [GRCh38]
Chr7:65546936 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1194C>T (p.Ala398=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000864673]|not specified [RCV000609880] Chr7:66092607 [GRCh38]
Chr7:65557594 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1293G>A (p.Gly431=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001450288]|not specified [RCV000615837] Chr7:66092810 [GRCh38]
Chr7:65557797 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.13-1G>C single nucleotide variant Argininosuccinate lyase deficiency [RCV000668958] Chr7:66081802 [GRCh38]
Chr7:65546789 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.242T>C (p.Leu81Pro) single nucleotide variant Argininosuccinate lyase deficiency [RCV000634856] Chr7:66082402 [GRCh38]
Chr7:65547389 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1045_1062+7del deletion Argininosuccinate lyase deficiency [RCV000634855] Chr7:66089677..66089701 [GRCh38]
Chr7:65554664..65554688 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.338G>A (p.Arg113Gln) single nucleotide variant Argininosuccinate lyase deficiency [RCV000670964] Chr7:66082926 [GRCh38]
Chr7:65547913 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.973_976del (p.Leu325fs) deletion Argininosuccinate lyase deficiency [RCV000673588] Chr7:66089328..66089331 [GRCh38]
Chr7:65554315..65554318 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.1105del (p.Leu369fs) deletion Argininosuccinate lyase deficiency [RCV000673655] Chr7:66092048 [GRCh38]
Chr7:65557035 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.707G>A (p.Arg236Gln) single nucleotide variant Argininosuccinate lyase deficiency [RCV000671416]|not provided [RCV002260659] Chr7:66087780 [GRCh38]
Chr7:65552767 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.122G>A (p.Gly41Asp) single nucleotide variant Argininosuccinate lyase deficiency [RCV000700063] Chr7:66081912 [GRCh38]
Chr7:65546899 [GRCh37]
Chr7:7q11.21
pathogenic|uncertain significance
NM_000048.4(ASL):c.785T>C (p.Leu262Pro) single nucleotide variant Argininosuccinate lyase deficiency [RCV000671829] Chr7:66088873 [GRCh38]
Chr7:65553860 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.772G>A (p.Glu258Lys) single nucleotide variant Argininosuccinate lyase deficiency [RCV000670293] Chr7:66088860 [GRCh38]
Chr7:65553847 [GRCh37]
Chr7:7q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.735G>A (p.Trp245Ter) single nucleotide variant Argininosuccinate lyase deficiency [RCV000667947] Chr7:66088823 [GRCh38]
Chr7:65553810 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.447-1G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV000668088]|not provided [RCV001584537] Chr7:66086584 [GRCh38]
Chr7:65551571 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs) deletion Argininosuccinate lyase deficiency [RCV000670933]|not provided [RCV003156280] Chr7:66092772..66092773 [GRCh38]
Chr7:65557759..65557760 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.485A>G (p.Gln162Arg) single nucleotide variant Argininosuccinate lyase deficiency [RCV000674019] Chr7:66086623 [GRCh38]
Chr7:65551610 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1249_1250+12del deletion Argininosuccinate lyase deficiency [RCV000671616] Chr7:66092657..66092670 [GRCh38]
Chr7:65557644..65557657 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.337C>T (p.Arg113Trp) single nucleotide variant Argininosuccinate lyase deficiency [RCV000668492] Chr7:66082925 [GRCh38]
Chr7:65547912 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.577C>T (p.Arg193Trp) single nucleotide variant Argininosuccinate lyase deficiency [RCV000668596] Chr7:66086796 [GRCh38]
Chr7:65551783 [GRCh37]
Chr7:7q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.377G>A (p.Arg126Gln) single nucleotide variant Argininosuccinate lyase deficiency [RCV000672435] Chr7:66083105 [GRCh38]
Chr7:65548092 [GRCh37]
Chr7:7q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.1311T>G (p.Tyr437Ter) single nucleotide variant Argininosuccinate lyase deficiency [RCV000672953] Chr7:66092828 [GRCh38]
Chr7:65557815 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.1062+1G>T single nucleotide variant Argininosuccinate lyase deficiency [RCV000674647] Chr7:66089696 [GRCh38]
Chr7:65554683 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln) single nucleotide variant Argininosuccinate lyase deficiency [RCV000666207] Chr7:66092884 [GRCh38]
Chr7:65557871 [GRCh37]
Chr7:7q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.283_285delinsGGCG (p.Arg95fs) indel Argininosuccinate lyase deficiency [RCV000671050] Chr7:66082443..66082445 [GRCh38]
Chr7:65547430..65547432 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.209T>C (p.Val70Ala) single nucleotide variant Argininosuccinate lyase deficiency [RCV000665127] Chr7:66082369 [GRCh38]
Chr7:65547356 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.686G>C (p.Ser229Thr) single nucleotide variant Argininosuccinate lyase deficiency [RCV000674458] Chr7:66087759 [GRCh38]
Chr7:65552746 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.111_133del (p.Asp38fs) deletion Argininosuccinate lyase deficiency [RCV000670972] Chr7:66081900..66081922 [GRCh38]
Chr7:65546887..65546909 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.1325del (p.Gly442fs) deletion Argininosuccinate lyase deficiency [RCV000671122] Chr7:66092841 [GRCh38]
Chr7:65557828 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.566A>G (p.Glu189Gly) single nucleotide variant Argininosuccinate lyase deficiency [RCV000671347] Chr7:66086785 [GRCh38]
Chr7:65551772 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.1300G>T (p.Val434Leu) single nucleotide variant Argininosuccinate lyase deficiency [RCV000674177]|Inborn genetic diseases [RCV002531346] Chr7:66092817 [GRCh38]
Chr7:65557804 [GRCh37]
Chr7:7q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.133T>A (p.Tyr45Asn) single nucleotide variant Argininosuccinate lyase deficiency [RCV000666421] Chr7:66081923 [GRCh38]
Chr7:65546910 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.91G>A (p.Asp31Asn) single nucleotide variant Argininosuccinate lyase deficiency [RCV000665993] Chr7:66081881 [GRCh38]
Chr7:65546868 [GRCh37]
Chr7:7q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.638G>A (p.Arg213Gln) single nucleotide variant Argininosuccinate lyase deficiency [RCV000674987]|not provided [RCV002466559] Chr7:66087369 [GRCh38]
Chr7:65552356 [GRCh37]
Chr7:7q11.21
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.281G>A (p.Arg94His) single nucleotide variant Argininosuccinate lyase deficiency [RCV000665518]|not provided [RCV001756123] Chr7:66082441 [GRCh38]
Chr7:65547428 [GRCh37]
Chr7:7q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.284G>A (p.Arg95His) single nucleotide variant Argininosuccinate lyase deficiency [RCV000674562] Chr7:66082444 [GRCh38]
Chr7:65547431 [GRCh37]
Chr7:7q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.260A>G (p.Asp87Gly) single nucleotide variant Argininosuccinate lyase deficiency [RCV000673369] Chr7:66082420 [GRCh38]
Chr7:65547407 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.1102A>G (p.Met368Val) single nucleotide variant Argininosuccinate lyase deficiency [RCV000673583] Chr7:66092045 [GRCh38]
Chr7:65557032 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1154G>A (p.Arg385His) single nucleotide variant Argininosuccinate lyase deficiency [RCV000667516] Chr7:66092567 [GRCh38]
Chr7:65557554 [GRCh37]
Chr7:7q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.631_647del (p.Val211fs) deletion Argininosuccinate lyase deficiency [RCV000667640] Chr7:66087361..66087377 [GRCh38]
Chr7:65552348..65552364 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.1207del (p.Val403fs) deletion Argininosuccinate lyase deficiency [RCV000667660] Chr7:66092616 [GRCh38]
Chr7:65557603 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.1045G>A (p.Val349Ile) single nucleotide variant Argininosuccinate lyase deficiency [RCV000693502]|Inborn genetic diseases [RCV002531470] Chr7:66089678 [GRCh38]
Chr7:65554665 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.765dup (p.Met256fs) duplication Argininosuccinate lyase deficiency [RCV000695618] Chr7:66088851..66088852 [GRCh38]
Chr7:65553838..65553839 [GRCh37]
Chr7:7q11.21
pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q11.21(chr7:65515276-65709988)x3 copy number gain not provided [RCV000746757] Chr7:65515276..65709988 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.1144-80del deletion not provided [RCV001611138] Chr7:66092462 [GRCh38]
Chr7:65557449 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.741G>A (p.Ser247=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000872586] Chr7:66088829 [GRCh38]
Chr7:65553816 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.603-90GT[18] microsatellite not provided [RCV001534641] Chr7:66087244..66087247 [GRCh38]
Chr7:65552231..65552234 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.231C>T (p.Gly77=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001559161] Chr7:66082391 [GRCh38]
Chr7:65547378 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1095C>T (p.Ser365=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001559203] Chr7:66092038 [GRCh38]
Chr7:65557025 [GRCh37]
Chr7:7q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.655+8G>T single nucleotide variant Argininosuccinate lyase deficiency [RCV001394968] Chr7:66087394 [GRCh38]
Chr7:65552381 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.603-39G>T single nucleotide variant not provided [RCV001569793] Chr7:66087295 [GRCh38]
Chr7:65552282 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.655G>C (p.Glu219Gln) single nucleotide variant Argininosuccinate lyase deficiency [RCV001044835] Chr7:66087386 [GRCh38]
Chr7:65552373 [GRCh37]
Chr7:7q11.21
likely pathogenic|uncertain significance
NC_000007.14:g.(?_66081783)_(66083194_?)del deletion Argininosuccinate lyase deficiency [RCV001031511] Chr7:65546770..65548181 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.603-90GT[21] microsatellite not provided [RCV001681352] Chr7:66087243..66087244 [GRCh38]
Chr7:65552230..65552231 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.979-8C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV001467592] Chr7:66089604 [GRCh38]
Chr7:65554591 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.207+10G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV001462698] Chr7:66082007 [GRCh38]
Chr7:65546994 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.258G>A (p.Glu86=) single nucleotide variant not provided [RCV000924194] Chr7:66082418 [GRCh38]
Chr7:65547405 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.348+8A>T single nucleotide variant Argininosuccinate lyase deficiency [RCV000901068] Chr7:66082944 [GRCh38]
Chr7:65547931 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1275C>T (p.Ile425=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001477401] Chr7:66092792 [GRCh38]
Chr7:65557779 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1063-8G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV000928317] Chr7:66091998 [GRCh38]
Chr7:65556985 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.655+7C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV002545971] Chr7:66087393 [GRCh38]
Chr7:65552380 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.540G>C (p.Leu180=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001467205] Chr7:66086759 [GRCh38]
Chr7:65551746 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1143+9G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV001492701] Chr7:66092095 [GRCh38]
Chr7:65557082 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1077C>G (p.Asn359Lys) single nucleotide variant Argininosuccinate lyase deficiency [RCV001043220] Chr7:66092020 [GRCh38]
Chr7:65557007 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1285G>T (p.Asp429Tyr) single nucleotide variant Argininosuccinate lyase deficiency [RCV001053630] Chr7:66092802 [GRCh38]
Chr7:65557789 [GRCh37]
Chr7:7q11.21
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NC_000007.14:g.(?_66076062)_(66092932_?)dup duplication Argininosuccinate lyase deficiency [RCV001032629] Chr7:65541049..65557919 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.72C>T (p.Phe24=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000876220] Chr7:66081862 [GRCh38]
Chr7:65546849 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.531C>A (p.Ala177=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000876490] Chr7:66086750 [GRCh38]
Chr7:65551737 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.13-4C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV000970769] Chr7:66081799 [GRCh38]
Chr7:65546786 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.354C>T (p.Val118=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000876655] Chr7:66083082 [GRCh38]
Chr7:65548069 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.1113T>G (p.Thr371=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001410921] Chr7:66092056 [GRCh38]
Chr7:65557043 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.243G>C (p.Leu81=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001159590] Chr7:66082403 [GRCh38]
Chr7:65547390 [GRCh37]
Chr7:7q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.1383A>C (p.Ala461=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000897654] Chr7:66092900 [GRCh38]
Chr7:65557887 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.708G>C (p.Arg236=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001415408] Chr7:66087781 [GRCh38]
Chr7:65552768 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.75C>T (p.Asn25=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000924242] Chr7:66081865 [GRCh38]
Chr7:65546852 [GRCh37]
Chr7:7q11.21
likely benign|conflicting interpretations of pathogenicity
NM_000048.4(ASL):c.330A>G (p.Gly110=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001086661]|not provided [RCV000941072] Chr7:66082918 [GRCh38]
Chr7:65547905 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.291+8C>A single nucleotide variant Argininosuccinate lyase deficiency [RCV001487621] Chr7:66082459 [GRCh38]
Chr7:65547446 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1029C>T (p.Leu343=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000876175]|not provided [RCV003424419] Chr7:66089662 [GRCh38]
Chr7:65554649 [GRCh37]
Chr7:7q11.21
likely benign
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000048.4(ASL):c.401G>A (p.Gly134Asp) single nucleotide variant Argininosuccinate lyase deficiency [RCV000796865] Chr7:66083129 [GRCh38]
Chr7:65548116 [GRCh37]
Chr7:7q11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000007.13:g.(?_65556973)_(65557919_?)dup duplication Argininosuccinate lyase deficiency [RCV000793476] Chr7:66091986..66092932 [GRCh38]
Chr7:65556973..65557919 [GRCh37]
Chr7:7q11.21
likely pathogenic|uncertain significance
NM_000048.4(ASL):c.656-102T>C single nucleotide variant Argininosuccinate lyase deficiency [RCV001532813]|not provided [RCV000834590] Chr7:66087627 [GRCh38]
Chr7:65552614 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.12+227C>G single nucleotide variant not provided [RCV000840323] Chr7:66076320 [GRCh38]
Chr7:65541307 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.327G>A (p.Thr109=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001485760] Chr7:66082915 [GRCh38]
Chr7:65547902 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1127A>G (p.Tyr376Cys) single nucleotide variant Argininosuccinate lyase deficiency [RCV000817140] Chr7:66092070 [GRCh38]
Chr7:65557057 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1366C>T (p.Arg456Trp) single nucleotide variant ASL-related condition [RCV003411805]|Argininosuccinate lyase deficiency [RCV000817170] Chr7:66092883 [GRCh38]
Chr7:65557870 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.602+123T>C single nucleotide variant not provided [RCV000835493] Chr7:66086944 [GRCh38]
Chr7:65551931 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.376C>T (p.Arg126Trp) single nucleotide variant Argininosuccinate lyase deficiency [RCV000797180]|not provided [RCV001759511] Chr7:66083104 [GRCh38]
Chr7:65548091 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic|uncertain significance
NM_000048.4(ASL):c.326C>T (p.Thr109Met) single nucleotide variant Argininosuccinate lyase deficiency [RCV000815132] Chr7:66082914 [GRCh38]
Chr7:65547901 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.603-1G>C single nucleotide variant Argininosuccinate lyase deficiency [RCV000809927] Chr7:66087333 [GRCh38]
Chr7:65552320 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.3(ASL):c.979delG deletion Argininosuccinate lyase deficiency [RCV000804912] Chr7:66089611 [GRCh38]
Chr7:65554598 [GRCh37]
Chr7:7q11.21
pathogenic
NC_000007.14:g.(?_66091986)_(66092932_?)del deletion Argininosuccinate lyase deficiency [RCV000813318] Chr7:66091986..66092932 [GRCh38]
Chr7:65556973..65557919 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.1344C>T (p.Val448=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000978281] Chr7:66092861 [GRCh38]
Chr7:65557848 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.99C>G (p.His33Gln) single nucleotide variant Argininosuccinate lyase deficiency [RCV000894441] Chr7:66081889 [GRCh38]
Chr7:65546876 [GRCh37]
Chr7:7q11.21
likely benign|conflicting interpretations of pathogenicity
NM_000048.4(ASL):c.655+8G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV000873339] Chr7:66087394 [GRCh38]
Chr7:65552381 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.938C>A (p.Thr313Asn) single nucleotide variant Argininosuccinate lyase deficiency [RCV000794911]|Inborn genetic diseases [RCV002536988] Chr7:66089295 [GRCh38]
Chr7:65554282 [GRCh37]
Chr7:7q11.21
uncertain significance
NC_000007.14:g.(?_66076062)_(66092932_?)del deletion Argininosuccinate lyase deficiency [RCV000807933] Chr7:66076062..66092932 [GRCh38]
Chr7:65541049..65557919 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.1056G>C (p.Thr352=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001501005] Chr7:66089689 [GRCh38]
Chr7:65554676 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.951T>A (p.Leu317=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000975273] Chr7:66089308 [GRCh38]
Chr7:65554295 [GRCh37]
Chr7:7q11.21
likely benign
GRCh37/hg19 7q11.21(chr7:65501886-65597039)x1 copy number loss not provided [RCV000846864] Chr7:65501886..65597039 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.917G>C (p.Arg306Pro) single nucleotide variant Argininosuccinate lyase deficiency [RCV001162565] Chr7:66089174 [GRCh38]
Chr7:65554161 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1230G>C (p.Leu410=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001162566] Chr7:66092643 [GRCh38]
Chr7:65557630 [GRCh37]
Chr7:7q11.21
conflicting interpretations of pathogenicity|uncertain significance
NC_000007.14:g.(?_66086565)_(66092932_?)dup duplication Argininosuccinate lyase deficiency [RCV001031139] Chr7:65551552..65557919 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1136G>A (p.Arg379His) single nucleotide variant Argininosuccinate lyase deficiency [RCV001239019] Chr7:66092079 [GRCh38]
Chr7:65557066 [GRCh37]
Chr7:7q11.21
likely pathogenic|uncertain significance
NM_000048.4(ASL):c.551_552del (p.Asp183_Ser184insTer) microsatellite Argininosuccinate lyase deficiency [RCV001227318] Chr7:66086768..66086769 [GRCh38]
Chr7:65551755..65551756 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.719-1G>C single nucleotide variant Argininosuccinate lyase deficiency [RCV001210624] Chr7:66088806 [GRCh38]
Chr7:65553793 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.893G>T (p.Ser298Ile) single nucleotide variant not provided [RCV001200180] Chr7:66089150 [GRCh38]
Chr7:65554137 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.571C>G (p.Arg191Gly) single nucleotide variant Argininosuccinate lyase deficiency [RCV000853343] Chr7:66086790 [GRCh38]
Chr7:65551777 [GRCh37]
Chr7:7q11.21
likely pathogenic|conflicting interpretations of pathogenicity
NM_000048.4(ASL):c.-16C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV001159588] Chr7:66076066 [GRCh38]
Chr7:65541053 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.*286T>A single nucleotide variant Argininosuccinate lyase deficiency [RCV001159699] Chr7:66093198 [GRCh38]
Chr7:65558185 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1172_1173delinsAA (p.Ser391Ter) indel Argininosuccinate lyase deficiency [RCV001229057] Chr7:66092585..66092586 [GRCh38]
Chr7:65557572..65557573 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.486G>A (p.Gln162=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001160971] Chr7:66086624 [GRCh38]
Chr7:65551611 [GRCh37]
Chr7:7q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.159del (p.Leu54fs) deletion Argininosuccinate lyase deficiency [RCV001245689] Chr7:66081947 [GRCh38]
Chr7:65546934 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.208-72G>T single nucleotide variant not provided [RCV001577581] Chr7:66082296 [GRCh38]
Chr7:65547283 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1144-35C>A single nucleotide variant not provided [RCV001549386] Chr7:66092522 [GRCh38]
Chr7:65557509 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.602+42C>A single nucleotide variant not provided [RCV001588612] Chr7:66086863 [GRCh38]
Chr7:65551850 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.13-209del deletion not provided [RCV001556019] Chr7:66081580 [GRCh38]
Chr7:65546567 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.603-90GT[22] microsatellite not provided [RCV001556745] Chr7:66087243..66087244 [GRCh38]
Chr7:65552230..65552231 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1144-96G>A single nucleotide variant not provided [RCV001549392] Chr7:66092461 [GRCh38]
Chr7:65557448 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1165G>A (p.Glu389Lys) single nucleotide variant Argininosuccinate lyase deficiency [RCV001580627]|Inborn genetic diseases [RCV002570823] Chr7:66092578 [GRCh38]
Chr7:65557565 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.718+101G>A single nucleotide variant not provided [RCV001552825] Chr7:66087892 [GRCh38]
Chr7:65552879 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.655+124A>G single nucleotide variant Argininosuccinate lyase deficiency [RCV001532812]|not provided [RCV001713106] Chr7:66087510 [GRCh38]
Chr7:65552497 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.1063-57G>C single nucleotide variant Argininosuccinate lyase deficiency [RCV001532814]|not provided [RCV001647368] Chr7:66091949 [GRCh38]
Chr7:65556936 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.1056G>A (p.Thr352=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000885329] Chr7:66089689 [GRCh38]
Chr7:65554676 [GRCh37]
Chr7:7q11.21
likely benign|conflicting interpretations of pathogenicity
NM_000048.4(ASL):c.1200C>G (p.Thr400=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000872890] Chr7:66092613 [GRCh38]
Chr7:65557600 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.393G>A (p.Thr131=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000979954] Chr7:66083121 [GRCh38]
Chr7:65548108 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1242G>A (p.Gln414=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000930893] Chr7:66092655 [GRCh38]
Chr7:65557642 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.924C>T (p.Ala308=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000980285] Chr7:66089281 [GRCh38]
Chr7:65554268 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.195T>C (p.His65=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000931743] Chr7:66081985 [GRCh38]
Chr7:65546972 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.979-6T>C single nucleotide variant Argininosuccinate lyase deficiency [RCV001395426] Chr7:66089606 [GRCh38]
Chr7:65554593 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1263G>A (p.Ser421=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000895197] Chr7:66092780 [GRCh38]
Chr7:65557767 [GRCh37]
Chr7:7q11.21
benign|conflicting interpretations of pathogenicity
NM_000048.4(ASL):c.981G>A (p.Glu327=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001397203] Chr7:66089614 [GRCh38]
Chr7:65554601 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.656-4C>A single nucleotide variant Argininosuccinate lyase deficiency [RCV000928846] Chr7:66087725 [GRCh38]
Chr7:65552712 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.174C>T (p.Ala58=) single nucleotide variant Argininosuccinate lyase deficiency [RCV000898848] Chr7:66081964 [GRCh38]
Chr7:65546951 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.*218C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV001159698] Chr7:66093130 [GRCh38]
Chr7:65558117 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1262C>T (p.Ser421Leu) single nucleotide variant Argininosuccinate lyase deficiency [RCV001240679] Chr7:66092779 [GRCh38]
Chr7:65557766 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1358G>A (p.Arg453His) single nucleotide variant Argininosuccinate lyase deficiency [RCV001225309] Chr7:66092875 [GRCh38]
Chr7:65557862 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.446C>T (p.Ala149Val) single nucleotide variant Argininosuccinate lyase deficiency [RCV001068111] Chr7:66083174 [GRCh38]
Chr7:65548161 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.*36G>A single nucleotide variant not provided [RCV001562077] Chr7:66092948 [GRCh38]
Chr7:65557935 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.978+47C>T single nucleotide variant not provided [RCV001562298] Chr7:66089382 [GRCh38]
Chr7:65554369 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.602+41G>C single nucleotide variant not provided [RCV001557513] Chr7:66086862 [GRCh38]
Chr7:65551849 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.447-188G>A single nucleotide variant not provided [RCV001688927] Chr7:66086397 [GRCh38]
Chr7:65551384 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.208-127C>T single nucleotide variant not provided [RCV001593496] Chr7:66082241 [GRCh38]
Chr7:65547228 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1251-47G>A single nucleotide variant not provided [RCV001657648] Chr7:66092721 [GRCh38]
Chr7:65557708 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.603-90GT[16] microsatellite not provided [RCV001676794] Chr7:66087244..66087251 [GRCh38]
Chr7:65552231..65552238 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.720C>T (p.Ala240=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001162563] Chr7:66088808 [GRCh38]
Chr7:65553795 [GRCh37]
Chr7:7q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.1349G>A (p.Trp450Ter) single nucleotide variant Argininosuccinate lyase deficiency [RCV001071721] Chr7:66092866 [GRCh38]
Chr7:65557853 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.919-1G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV001044324] Chr7:66089275 [GRCh38]
Chr7:65554262 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.474C>T (p.Tyr158=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001160970] Chr7:66086612 [GRCh38]
Chr7:65551599 [GRCh37]
Chr7:7q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.656-6C>G single nucleotide variant Argininosuccinate lyase deficiency [RCV001160972] Chr7:66087723 [GRCh38]
Chr7:65552710 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.29G>A (p.Gly10Asp) single nucleotide variant Argininosuccinate lyase deficiency [RCV001159589] Chr7:66081819 [GRCh38]
Chr7:65546806 [GRCh37]
Chr7:7q11.21
uncertain significance
NC_000007.14:g.(?_65960877)_(66092932_?)del deletion Argininosuccinate lyase deficiency [RCV001033496]|Mucopolysaccharidosis type 7 [RCV001382802] Chr7:65425864..65557919 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.603-90GT[17] microsatellite not provided [RCV001588412] Chr7:66087244..66087249 [GRCh38]
Chr7:65552231..65552236 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1063-21C>T single nucleotide variant not provided [RCV001671476] Chr7:66091985 [GRCh38]
Chr7:65556972 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.451_452dup (p.Asp152fs) duplication Argininosuccinate lyase deficiency [RCV001036037] Chr7:66086588..66086589 [GRCh38]
Chr7:65551575..65551576 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.603-22C>T single nucleotide variant not provided [RCV001586805] Chr7:66087312 [GRCh38]
Chr7:65552299 [GRCh37]
Chr7:7q11.21
likely benign
NC_000007.14:g.(?_66076072)_(66092922_?)del deletion Argininosuccinate lyase deficiency [RCV001033892] Chr7:65541059..65557909 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.966_974dup (p.Asp324_Leu325insPheLysAsp) duplication Argininosuccinate lyase deficiency [RCV001530183] Chr7:66089322..66089323 [GRCh38]
Chr7:65554309..65554310 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.603-90GT[19] microsatellite not provided [RCV001651613] Chr7:66087244..66087245 [GRCh38]
Chr7:65552231..65552232 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.584A>G (p.Asn195Ser) single nucleotide variant Argininosuccinate lyase deficiency [RCV001068386] Chr7:66086803 [GRCh38]
Chr7:65551790 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.62T>C (p.Met21Thr) single nucleotide variant Argininosuccinate lyase deficiency [RCV001042384]|not specified [RCV003230623] Chr7:66081852 [GRCh38]
Chr7:65546839 [GRCh37]
Chr7:7q11.21
pathogenic|uncertain significance
NM_000048.4(ASL):c.748A>G (p.Met250Val) single nucleotide variant Argininosuccinate lyase deficiency [RCV001162564] Chr7:66088836 [GRCh38]
Chr7:65553823 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.706C>T (p.Arg236Trp) single nucleotide variant Argininosuccinate lyase deficiency [RCV001210762] Chr7:66087779 [GRCh38]
Chr7:65552766 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.1342G>A (p.Val448Ile) single nucleotide variant Argininosuccinate lyase deficiency [RCV001033969] Chr7:66092859 [GRCh38]
Chr7:65557846 [GRCh37]
Chr7:7q11.21
likely benign|conflicting interpretations of pathogenicity
NM_000048.4(ASL):c.*395C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV001159700] Chr7:66093307 [GRCh38]
Chr7:65558294 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.-34A>G single nucleotide variant Argininosuccinate lyase deficiency [RCV001164519] Chr7:66076048 [GRCh38]
Chr7:65541035 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1388A>G (p.Gln463Arg) single nucleotide variant Argininosuccinate lyase deficiency [RCV001164613] Chr7:66092905 [GRCh38]
Chr7:65557892 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.1395G>A (p.Ter465=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001164614] Chr7:66092912 [GRCh38]
Chr7:65557899 [GRCh37]
Chr7:7q11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_000048.4(ASL):c.*93C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV001164615] Chr7:66093005 [GRCh38]
Chr7:65557992 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.928C>T (p.Leu310Phe) single nucleotide variant Argininosuccinate lyase deficiency [RCV001037258] Chr7:66089285 [GRCh38]
Chr7:65554272 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.557G>A (p.Arg186Gln) single nucleotide variant Argininosuccinate lyase deficiency [RCV001201220] Chr7:66086776 [GRCh38]
Chr7:65551763 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.1047C>G (p.Val349=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001278589] Chr7:66089680 [GRCh38]
Chr7:65554667 [GRCh37]
Chr7:7q11.21
likely benign|uncertain significance
NM_000048.4(ASL):c.454G>A (p.Asp152Asn) single nucleotide variant Argininosuccinate lyase deficiency [RCV002001661] Chr7:66086592 [GRCh38]
Chr7:65551579 [GRCh37]
Chr7:7q11.21
likely pathogenic|uncertain significance
NM_000048.4(ASL):c.256G>T (p.Glu86Ter) single nucleotide variant Argininosuccinate lyase deficiency [RCV001264310] Chr7:66082416 [GRCh38]
Chr7:65547403 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.371G>A (p.Trp124Ter) single nucleotide variant Argininosuccinate lyase deficiency [RCV001264311] Chr7:66083099 [GRCh38]
Chr7:65548086 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.372G>A (p.Trp124Ter) single nucleotide variant Argininosuccinate lyase deficiency [RCV001264312] Chr7:66083100 [GRCh38]
Chr7:65548087 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.379C>T (p.Gln127Ter) single nucleotide variant Argininosuccinate lyase deficiency [RCV001264313] Chr7:66083107 [GRCh38]
Chr7:65548094 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.721G>T (p.Glu241Ter) single nucleotide variant Argininosuccinate lyase deficiency [RCV001264314] Chr7:66088809 [GRCh38]
Chr7:65553796 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.814C>T (p.Gln272Ter) single nucleotide variant Argininosuccinate lyase deficiency [RCV001264315] Chr7:66088902 [GRCh38]
Chr7:65553889 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.468G>A (p.Pro156=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001433241] Chr7:66086606 [GRCh38]
Chr7:65551593 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1020T>G (p.Ser340Arg) single nucleotide variant Argininosuccinate lyase deficiency [RCV001294782] Chr7:66089653 [GRCh38]
Chr7:65554640 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.470G>T (p.Gly157Val) single nucleotide variant not provided [RCV001311282] Chr7:66086608 [GRCh38]
Chr7:65551595 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.1098C>T (p.Pro366=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001414885] Chr7:66092041 [GRCh38]
Chr7:65557028 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1173C>T (p.Ser391=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001397300] Chr7:66092586 [GRCh38]
Chr7:65557573 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.656-5C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV001414922] Chr7:66087724 [GRCh38]
Chr7:65552711 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.402C>A (p.Gly134=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001278587] Chr7:66083130 [GRCh38]
Chr7:65548117 [GRCh37]
Chr7:7q11.21
likely benign|uncertain significance
NM_000048.4(ASL):c.919-4G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV001278588] Chr7:66089272 [GRCh38]
Chr7:65554259 [GRCh37]
Chr7:7q11.21
likely benign|uncertain significance
NM_000048.4(ASL):c.77C>T (p.Ala26Val) single nucleotide variant Argininosuccinate lyase deficiency [RCV001322099] Chr7:66081867 [GRCh38]
Chr7:65546854 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.287T>C (p.Leu96Pro) single nucleotide variant Argininosuccinate lyase deficiency [RCV001342693] Chr7:66082447 [GRCh38]
Chr7:65547434 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1080G>C (p.Met360Ile) single nucleotide variant Argininosuccinate lyase deficiency [RCV001344336] Chr7:66092023 [GRCh38]
Chr7:65557010 [GRCh37]
Chr7:7q11.21
likely pathogenic|uncertain significance
NM_000048.4(ASL):c.502C>A (p.Arg168Ser) single nucleotide variant Neurodevelopmental disorder [RCV001375027] Chr7:66086640 [GRCh38]
Chr7:65551627 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.602+1G>T single nucleotide variant Argininosuccinate lyase deficiency [RCV001328964] Chr7:66086822 [GRCh38]
Chr7:65551809 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.76G>A (p.Ala26Thr) single nucleotide variant Argininosuccinate lyase deficiency [RCV001278586] Chr7:66081866 [GRCh38]
Chr7:65546853 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.120A>G (p.Gln40=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001413382] Chr7:66081910 [GRCh38]
Chr7:65546897 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.291+7C>A single nucleotide variant Argininosuccinate lyase deficiency [RCV001396355] Chr7:66082458 [GRCh38]
Chr7:65547445 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.556C>T (p.Arg186Trp) single nucleotide variant Argininosuccinate lyase deficiency [RCV001358697]|not provided [RCV001820057] Chr7:66086775 [GRCh38]
Chr7:65551762 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.246C>T (p.Asn82=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001492156] Chr7:66082406 [GRCh38]
Chr7:65547393 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1101C>T (p.Asp367=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001416741] Chr7:66092044 [GRCh38]
Chr7:65557031 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.603-10G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV001486873] Chr7:66087324 [GRCh38]
Chr7:65552311 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.771C>A (p.Ala257=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001402080] Chr7:66088859 [GRCh38]
Chr7:65553846 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1377G>A (p.Leu459=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001427883] Chr7:66092894 [GRCh38]
Chr7:65557881 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1319T>C (p.Leu440Pro) single nucleotide variant Argininosuccinate lyase deficiency [RCV001424831] Chr7:66092836 [GRCh38]
Chr7:65557823 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.348+9G>T single nucleotide variant Argininosuccinate lyase deficiency [RCV001487378] Chr7:66082945 [GRCh38]
Chr7:65547932 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.960C>A (p.Thr320=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001482628] Chr7:66089317 [GRCh38]
Chr7:65554304 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1318C>T (p.Leu440=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001454765] Chr7:66092835 [GRCh38]
Chr7:65557822 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.984C>T (p.Asp328=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001461954] Chr7:66089617 [GRCh38]
Chr7:65554604 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1290C>T (p.Tyr430=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001502744] Chr7:66092807 [GRCh38]
Chr7:65557794 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.78G>C (p.Ala26=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001463076] Chr7:66081868 [GRCh38]
Chr7:65546855 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.795C>T (p.Thr265=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001418075] Chr7:66088883 [GRCh38]
Chr7:65553870 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1386G>A (p.Gln462=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001491537] Chr7:66092903 [GRCh38]
Chr7:65557890 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.312A>G (p.Ala104=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001492793] Chr7:66082900 [GRCh38]
Chr7:65547887 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.918+11_918+14dup duplication Argininosuccinate lyase deficiency [RCV001400478] Chr7:66089182..66089183 [GRCh38]
Chr7:65554169..65554170 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.285C>T (p.Arg95=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001489127] Chr7:66082445 [GRCh38]
Chr7:65547432 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.303T>C (p.Gly101=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001483865] Chr7:66082891 [GRCh38]
Chr7:65547878 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.573G>C (p.Arg191=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001415635] Chr7:66086792 [GRCh38]
Chr7:65551779 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.771C>T (p.Ala257=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001493168] Chr7:66088859 [GRCh38]
Chr7:65553846 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.13-8C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV001429341] Chr7:66081795 [GRCh38]
Chr7:65546782 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1059G>T (p.Leu353=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001491935] Chr7:66089692 [GRCh38]
Chr7:65554679 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1269C>T (p.Asp423=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001457042] Chr7:66092786 [GRCh38]
Chr7:65557773 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.54C>T (p.Asp18=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001498689] Chr7:66081844 [GRCh38]
Chr7:65546831 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.585T>C (p.Asn195=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001488530] Chr7:66086804 [GRCh38]
Chr7:65551791 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.594C>G (p.Pro198=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001506792] Chr7:66086813 [GRCh38]
Chr7:65551800 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1323C>T (p.Gly441=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001498929] Chr7:66092840 [GRCh38]
Chr7:65557827 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1317C>T (p.Ala439=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001498953] Chr7:66092834 [GRCh38]
Chr7:65557821 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.789C>T (p.Tyr263=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001467744] Chr7:66088877 [GRCh38]
Chr7:65553864 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.369G>A (p.Leu123=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001401661] Chr7:66083097 [GRCh38]
Chr7:65548084 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.741G>T (p.Ser247=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001424520] Chr7:66088829 [GRCh38]
Chr7:65553816 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.719-272A>G single nucleotide variant not provided [RCV001539283] Chr7:66088535 [GRCh38]
Chr7:65553522 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.833+10G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV001446016] Chr7:66088931 [GRCh38]
Chr7:65553918 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1035G>A (p.Val345=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001448712] Chr7:66089668 [GRCh38]
Chr7:65554655 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1023C>T (p.Ala341=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001446283] Chr7:66089656 [GRCh38]
Chr7:65554643 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1239G>T (p.Leu413=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001430386] Chr7:66092652 [GRCh38]
Chr7:65557639 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.831C>T (p.Tyr277=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001435736] Chr7:66088919 [GRCh38]
Chr7:65553906 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.294G>A (p.Glu98=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001410023] Chr7:66082882 [GRCh38]
Chr7:65547869 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1170C>A (p.Ala390=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001427979] Chr7:66092583 [GRCh38]
Chr7:65557570 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.78G>T (p.Ala26=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001403430] Chr7:66081868 [GRCh38]
Chr7:65546855 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.843C>T (p.Ser281=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001405210] Chr7:66089100 [GRCh38]
Chr7:65554087 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.405C>T (p.Leu135=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001430804] Chr7:66083133 [GRCh38]
Chr7:65548120 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.12+10A>T single nucleotide variant Argininosuccinate lyase deficiency [RCV001397734] Chr7:66076103 [GRCh38]
Chr7:65541090 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.625C>T (p.Leu209=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001426656] Chr7:66087356 [GRCh38]
Chr7:65552343 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.978+10C>G single nucleotide variant Argininosuccinate lyase deficiency [RCV001430642] Chr7:66089345 [GRCh38]
Chr7:65554332 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.729G>A (p.Leu243=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001418206] Chr7:66088817 [GRCh38]
Chr7:65553804 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.12+105C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV001532811]|not provided [RCV001655814] Chr7:66076198 [GRCh38]
Chr7:65541185 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.1266C>A (p.Gly422=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001417357] Chr7:66092783 [GRCh38]
Chr7:65557770 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.903G>A (p.Gly301=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001403113] Chr7:66089160 [GRCh38]
Chr7:65554147 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.446+7C>A single nucleotide variant Argininosuccinate lyase deficiency [RCV001407954] Chr7:66083181 [GRCh38]
Chr7:65548168 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.891G>T (p.Arg297=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001408710] Chr7:66089148 [GRCh38]
Chr7:65554135 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.221G>A (p.Trp74Ter) single nucleotide variant Argininosuccinate lyase deficiency [RCV001388903] Chr7:66082381 [GRCh38]
Chr7:65547368 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.834-5C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV001440541] Chr7:66089086 [GRCh38]
Chr7:65554073 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1251-10C>G single nucleotide variant Argininosuccinate lyase deficiency [RCV001447777] Chr7:66092758 [GRCh38]
Chr7:65557745 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.396C>T (p.Leu132=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001431998] Chr7:66083124 [GRCh38]
Chr7:65548111 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.349-1G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV001377366] Chr7:66083076 [GRCh38]
Chr7:65548063 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.78G>A (p.Ala26=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001393786] Chr7:66081868 [GRCh38]
Chr7:65546855 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.978+30C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV001554120]|not provided [RCV001597312] Chr7:66089365 [GRCh38]
Chr7:65554352 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.292-7C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV001408970] Chr7:66082873 [GRCh38]
Chr7:65547860 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.660C>T (p.Leu220=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001502355] Chr7:66087733 [GRCh38]
Chr7:65552720 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1197G>A (p.Glu399=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001473053] Chr7:66092610 [GRCh38]
Chr7:65557597 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.219G>A (p.Glu73=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001451096] Chr7:66082379 [GRCh38]
Chr7:65547366 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1134C>T (p.Val378=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001490643] Chr7:66092077 [GRCh38]
Chr7:65557064 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1341C>T (p.Ser447=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001451668] Chr7:66092858 [GRCh38]
Chr7:65557845 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.462C>T (p.Leu154=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001455105] Chr7:66086600 [GRCh38]
Chr7:65551587 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.720C>G (p.Ala240=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001499842] Chr7:66088808 [GRCh38]
Chr7:65553795 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.718+303G>A single nucleotide variant not provided [RCV001615882] Chr7:66088094 [GRCh38]
Chr7:65553081 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.1008A>G (p.Ser336=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001483492] Chr7:66089641 [GRCh38]
Chr7:65554628 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.531C>T (p.Ala177=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001476801] Chr7:66086750 [GRCh38]
Chr7:65551737 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1371G>A (p.Ala457=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001497226] Chr7:66092888 [GRCh38]
Chr7:65557875 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.60C>T (p.Ile20=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001455783] Chr7:66081850 [GRCh38]
Chr7:65546837 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1332G>A (p.Ala444=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001503784] Chr7:66092849 [GRCh38]
Chr7:65557836 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1144-5C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV001460055] Chr7:66092552 [GRCh38]
Chr7:65557539 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.426del (p.Met143fs) deletion Argininosuccinate lyase deficiency [RCV001580628] Chr7:66083153 [GRCh38]
Chr7:65548140 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.552T>C (p.Ser184=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001489054] Chr7:66086771 [GRCh38]
Chr7:65551758 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.603-244G>A single nucleotide variant not provided [RCV001687476] Chr7:66087090 [GRCh38]
Chr7:65552077 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.612T>C (p.Ile204=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001472230] Chr7:66087343 [GRCh38]
Chr7:65552330 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1005G>C (p.Val335=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001479878] Chr7:66089638 [GRCh38]
Chr7:65554625 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.656-3dup duplication Argininosuccinate lyase deficiency [RCV001519305] Chr7:66087719..66087720 [GRCh38]
Chr7:65552706..65552707 [GRCh37]
Chr7:7q11.21
benign|likely benign
NM_000048.4(ASL):c.308C>T (p.Thr103Met) single nucleotide variant Argininosuccinate lyase deficiency [RCV001425297] Chr7:66082896 [GRCh38]
Chr7:65547883 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.208-4A>G single nucleotide variant Argininosuccinate lyase deficiency [RCV001457070] Chr7:66082364 [GRCh38]
Chr7:65547351 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.399G>C (p.Ser133=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001486023] Chr7:66083127 [GRCh38]
Chr7:65548114 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.933G>A (p.Leu311=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001471154] Chr7:66089290 [GRCh38]
Chr7:65554277 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1372C>T (p.Leu458=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001464474] Chr7:66092889 [GRCh38]
Chr7:65557876 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1209C>T (p.Val403=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001443068] Chr7:66092622 [GRCh38]
Chr7:65557609 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.609C>A (p.Ala203=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001476628] Chr7:66087340 [GRCh38]
Chr7:65552327 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.207+9C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV001443176] Chr7:66082006 [GRCh38]
Chr7:65546993 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1302G>A (p.Val434=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001459093] Chr7:66092819 [GRCh38]
Chr7:65557806 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.279G>A (p.Glu93=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001461410] Chr7:66082439 [GRCh38]
Chr7:65547426 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.204C>T (p.Asp68=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001496807] Chr7:66081994 [GRCh38]
Chr7:65546981 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1308G>A (p.Gln436=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001496961] Chr7:66092825 [GRCh38]
Chr7:65557812 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1143+8T>C single nucleotide variant Argininosuccinate lyase deficiency [RCV001479269] Chr7:66092094 [GRCh38]
Chr7:65557081 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.919-5C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV001480792] Chr7:66089271 [GRCh38]
Chr7:65554258 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.498C>T (p.Pro166=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001393638] Chr7:66086636 [GRCh38]
Chr7:65551623 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1044C>T (p.Gly348=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001416417] Chr7:66089677 [GRCh38]
Chr7:65554664 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1170C>T (p.Ala390=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001426347] Chr7:66092583 [GRCh38]
Chr7:65557570 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.927G>C (p.Gly309=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001430713] Chr7:66089284 [GRCh38]
Chr7:65554271 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.870C>G (p.Pro290=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001497249] Chr7:66089127 [GRCh38]
Chr7:65554114 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1327del (p.Thr443fs) deletion Congenital myasthenic syndrome 4C [RCV001729996] Chr7:66092844 [GRCh38]
Chr7:65557831 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.719-13C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV003104910] Chr7:66088794 [GRCh38]
Chr7:65553781 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1133T>G (p.Val378Gly) single nucleotide variant not provided [RCV001727401] Chr7:66092076 [GRCh38]
Chr7:65557063 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.496C>T (p.Pro166Ser) single nucleotide variant not provided [RCV001756572] Chr7:66086634 [GRCh38]
Chr7:65551621 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.979-34G>A single nucleotide variant not provided [RCV001787022] Chr7:66089578 [GRCh38]
Chr7:65554565 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.998T>C (p.Phe333Ser) single nucleotide variant not provided [RCV001768964] Chr7:66089631 [GRCh38]
Chr7:65554618 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1143+2T>G single nucleotide variant Argininosuccinate lyase deficiency [RCV001795615] Chr7:66092088 [GRCh38]
Chr7:65557075 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.758T>C (p.Leu253Pro) single nucleotide variant not provided [RCV001787589] Chr7:66088846 [GRCh38]
Chr7:65553833 [GRCh37]
Chr7:7q11.21
uncertain significance
GRCh37/hg19 7q11.21(chr7:65498293-65778546)x3 copy number gain not provided [RCV001834445] Chr7:65498293..65778546 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1218C>G (p.Asn406Lys) single nucleotide variant Argininosuccinate lyase deficiency [RCV002043913] Chr7:66092631 [GRCh38]
Chr7:65557618 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1143+6T>A single nucleotide variant Argininosuccinate lyase deficiency [RCV002008287] Chr7:66092092 [GRCh38]
Chr7:65557079 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.671C>T (p.Ala224Val) single nucleotide variant Argininosuccinate lyase deficiency [RCV002025285] Chr7:66087744 [GRCh38]
Chr7:65552731 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.400G>A (p.Gly134Ser) single nucleotide variant Argininosuccinate lyase deficiency [RCV002006804] Chr7:66083128 [GRCh38]
Chr7:65548115 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1219C>T (p.Gln407Ter) single nucleotide variant Argininosuccinate lyase deficiency [RCV001913957] Chr7:66092632 [GRCh38]
Chr7:65557619 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.437G>C (p.Arg146Pro) single nucleotide variant Argininosuccinate lyase deficiency [RCV002045721] Chr7:66083165 [GRCh38]
Chr7:65548152 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NC_000007.13:g.(?_65556983)_(66460414_?)dup duplication Argininosuccinate lyase deficiency [RCV002009185] Chr7:65556983..66460414 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.1210G>A (p.Ala404Thr) single nucleotide variant Argininosuccinate lyase deficiency [RCV001947960] Chr7:66092623 [GRCh38]
Chr7:65557610 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1267G>A (p.Asp423Asn) single nucleotide variant not specified [RCV001844500] Chr7:66092784 [GRCh38]
Chr7:65557771 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.440C>A (p.Ala147Glu) single nucleotide variant Argininosuccinate lyase deficiency [RCV001965080] Chr7:66083168 [GRCh38]
Chr7:65548155 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.377G>C (p.Arg126Pro) single nucleotide variant Argininosuccinate lyase deficiency [RCV001964192] Chr7:66083105 [GRCh38]
Chr7:65548092 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.34C>T (p.Arg12Trp) single nucleotide variant Argininosuccinate lyase deficiency [RCV002024216] Chr7:66081824 [GRCh38]
Chr7:65546811 [GRCh37]
Chr7:7q11.21
likely pathogenic
GRCh37/hg19 7q11.21(chr7:64651626-66010636)x1 copy number loss not provided [RCV001827870] Chr7:64651626..66010636 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.690G>A (p.Met230Ile) single nucleotide variant Argininosuccinate lyase deficiency [RCV002042436] Chr7:66087763 [GRCh38]
Chr7:65552750 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.698C>G (p.Thr233Ser) single nucleotide variant Argininosuccinate lyase deficiency [RCV002005683] Chr7:66087771 [GRCh38]
Chr7:65552758 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1357C>T (p.Arg453Cys) single nucleotide variant Argininosuccinate lyase deficiency [RCV001983162] Chr7:66092874 [GRCh38]
Chr7:65557861 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.918_919-31del deletion Argininosuccinate lyase deficiency [RCV002003797] Chr7:66089174..66089244 [GRCh38]
Chr7:65554161..65554231 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.919-10C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV001912938] Chr7:66089266 [GRCh38]
Chr7:65554253 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1078A>G (p.Met360Val) single nucleotide variant Argininosuccinate lyase deficiency [RCV002039297] Chr7:66092021 [GRCh38]
Chr7:65557008 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.291+4C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV002017513] Chr7:66082455 [GRCh38]
Chr7:65547442 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.521T>C (p.Leu174Pro) single nucleotide variant Argininosuccinate lyase deficiency [RCV002038979] Chr7:66086659 [GRCh38]
Chr7:65551646 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1204G>A (p.Gly402Arg) single nucleotide variant Argininosuccinate lyase deficiency [RCV002018824] Chr7:66092617 [GRCh38]
Chr7:65557604 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.509G>A (p.Ser170Asn) single nucleotide variant Argininosuccinate lyase deficiency [RCV001963084] Chr7:66086647 [GRCh38]
Chr7:65551634 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.404T>G (p.Leu135Arg) single nucleotide variant Argininosuccinate lyase deficiency [RCV001879511] Chr7:66083132 [GRCh38]
Chr7:65548119 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.746G>T (p.Cys249Phe) single nucleotide variant Argininosuccinate lyase deficiency [RCV002036139] Chr7:66088834 [GRCh38]
Chr7:65553821 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.95G>A (p.Arg32Gln) single nucleotide variant Argininosuccinate lyase deficiency [RCV001952668] Chr7:66081885 [GRCh38]
Chr7:65546872 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.719-1G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV001972780] Chr7:66088806 [GRCh38]
Chr7:65553793 [GRCh37]
Chr7:7q11.21
pathogenic
NC_000007.13:g.(?_65557534)_(65557909_?)del deletion Argininosuccinate lyase deficiency [RCV001956395] Chr7:65557534..65557909 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.613G>A (p.Ala205Thr) single nucleotide variant Argininosuccinate lyase deficiency [RCV001920803] Chr7:66087344 [GRCh38]
Chr7:65552331 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.348+1G>T single nucleotide variant Argininosuccinate lyase deficiency [RCV002013281] Chr7:66082937 [GRCh38]
Chr7:65547924 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.306A>G (p.Ala102=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001981668] Chr7:66082894 [GRCh38]
Chr7:65547881 [GRCh37]
Chr7:7q11.21
likely benign
NC_000007.13:g.(?_65541069)_(65541100_?)del deletion Argininosuccinate lyase deficiency [RCV001936044] Chr7:65541069..65541100 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.1136G>T (p.Arg379Leu) single nucleotide variant Argininosuccinate lyase deficiency [RCV001998774] Chr7:66092079 [GRCh38]
Chr7:65557066 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.1128C>A (p.Tyr376Ter) single nucleotide variant Argininosuccinate lyase deficiency [RCV001959859] Chr7:66092071 [GRCh38]
Chr7:65557058 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.131C>G (p.Ala44Gly) single nucleotide variant Argininosuccinate lyase deficiency [RCV002009667] Chr7:66081921 [GRCh38]
Chr7:65546908 [GRCh37]
Chr7:7q11.21
uncertain significance
NC_000007.13:g.(?_65546932)_(65549932_?)del deletion Argininosuccinate lyase deficiency [RCV001939481] Chr7:65546932..65549932 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.1299T>C (p.Ser433=) single nucleotide variant Argininosuccinate lyase deficiency [RCV001972380] Chr7:66092816 [GRCh38]
Chr7:65557803 [GRCh37]
Chr7:7q11.21
likely benign
NC_000007.13:g.(?_65425661)_(65557909_?)del deletion Argininosuccinate lyase deficiency [RCV001972501] Chr7:65425661..65557909 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.599G>T (p.Gly200Val) single nucleotide variant Argininosuccinate lyase deficiency [RCV002034148] Chr7:66086818 [GRCh38]
Chr7:65551805 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.713T>A (p.Phe238Tyr) single nucleotide variant Argininosuccinate lyase deficiency [RCV001933904] Chr7:66087786 [GRCh38]
Chr7:65552773 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1290C>A (p.Tyr430Ter) single nucleotide variant Argininosuccinate lyase deficiency [RCV001975016] Chr7:66092807 [GRCh38]
Chr7:65557794 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.331C>T (p.Arg111Trp) single nucleotide variant Argininosuccinate lyase deficiency [RCV001978315] Chr7:66082919 [GRCh38]
Chr7:65547906 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.333G>T (p.Arg111=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002169671] Chr7:66082921 [GRCh38]
Chr7:65547908 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1062+7C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV002085191] Chr7:66089702 [GRCh38]
Chr7:65554689 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.918+13G>C single nucleotide variant Argininosuccinate lyase deficiency [RCV002106061] Chr7:66089188 [GRCh38]
Chr7:65554175 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.603-20A>G single nucleotide variant Argininosuccinate lyase deficiency [RCV002106062] Chr7:66087314 [GRCh38]
Chr7:65552301 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.349-6G>T single nucleotide variant Argininosuccinate lyase deficiency [RCV002106440] Chr7:66083071 [GRCh38]
Chr7:65548058 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.741G>C (p.Ser247=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002166208] Chr7:66088829 [GRCh38]
Chr7:65553816 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.633G>T (p.Val211=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002090051] Chr7:66087364 [GRCh38]
Chr7:65552351 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1062+14C>A single nucleotide variant Argininosuccinate lyase deficiency [RCV002111833] Chr7:66089709 [GRCh38]
Chr7:65554696 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1224G>A (p.Leu408=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002091489] Chr7:66092637 [GRCh38]
Chr7:65557624 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.861G>A (p.Lys287=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002205647] Chr7:66089118 [GRCh38]
Chr7:65554105 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1311T>C (p.Tyr437=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002130207] Chr7:66092828 [GRCh38]
Chr7:65557815 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1063-18G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV002075161] Chr7:66091988 [GRCh38]
Chr7:65556975 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.286C>T (p.Leu96=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002112143] Chr7:66082446 [GRCh38]
Chr7:65547433 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.603-5T>C single nucleotide variant Argininosuccinate lyase deficiency [RCV002128477] Chr7:66087329 [GRCh38]
Chr7:65552316 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.276T>C (p.Asn92=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002185823] Chr7:66082436 [GRCh38]
Chr7:65547423 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.141G>A (p.Arg47=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002108202] Chr7:66081931 [GRCh38]
Chr7:65546918 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.348+10C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV002164894] Chr7:66082946 [GRCh38]
Chr7:65547933 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.833+16C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV002192136] Chr7:66088937 [GRCh38]
Chr7:65553924 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1169C>T (p.Ala390Val) single nucleotide variant Argininosuccinate lyase deficiency [RCV002108050] Chr7:66092582 [GRCh38]
Chr7:65557569 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.978+10C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV002088292] Chr7:66089345 [GRCh38]
Chr7:65554332 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.524+14G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV002186531] Chr7:66086676 [GRCh38]
Chr7:65551663 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.528C>T (p.His176=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002215988] Chr7:66086747 [GRCh38]
Chr7:65551734 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.81C>T (p.Ser27=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002193235] Chr7:66081871 [GRCh38]
Chr7:65546858 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.855C>G (p.Pro285=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002174993] Chr7:66089112 [GRCh38]
Chr7:65554099 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.99C>T (p.His33=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002211929] Chr7:66081889 [GRCh38]
Chr7:65546876 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.655+10C>G single nucleotide variant Argininosuccinate lyase deficiency [RCV002106846] Chr7:66087396 [GRCh38]
Chr7:65552383 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.918+12A>G single nucleotide variant Argininosuccinate lyase deficiency [RCV002089834] Chr7:66089187 [GRCh38]
Chr7:65554174 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.615A>G (p.Ala205=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002078597] Chr7:66087346 [GRCh38]
Chr7:65552333 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.642G>A (p.Glu214=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002113665] Chr7:66087373 [GRCh38]
Chr7:65552360 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.589C>T (p.Leu197=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002093885] Chr7:66086808 [GRCh38]
Chr7:65551795 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.656-10del deletion Argininosuccinate lyase deficiency [RCV002215737] Chr7:66087719 [GRCh38]
Chr7:65552706 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.45T>C (p.Gly15=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002078919] Chr7:66081835 [GRCh38]
Chr7:65546822 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.603-20A>T single nucleotide variant Argininosuccinate lyase deficiency [RCV002150507] Chr7:66087314 [GRCh38]
Chr7:65552301 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.582C>T (p.Ile194=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002172253] Chr7:66086801 [GRCh38]
Chr7:65551788 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1250+13C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV002094738] Chr7:66092676 [GRCh38]
Chr7:65557663 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1254C>T (p.Pro418=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002197596] Chr7:66092771 [GRCh38]
Chr7:65557758 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.282C>T (p.Arg94=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002212140] Chr7:66082442 [GRCh38]
Chr7:65547429 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.367C>T (p.Leu123=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002194603] Chr7:66083095 [GRCh38]
Chr7:65548082 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.606G>T (p.Gly202=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002212109] Chr7:66087337 [GRCh38]
Chr7:65552324 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.834-14A>G single nucleotide variant Argininosuccinate lyase deficiency [RCV002078911] Chr7:66089077 [GRCh38]
Chr7:65554064 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.349-5C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV002170391] Chr7:66083072 [GRCh38]
Chr7:65548059 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1062+17del deletion Argininosuccinate lyase deficiency [RCV002149195] Chr7:66089707 [GRCh38]
Chr7:65554694 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.1014T>C (p.Thr338=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002095762] Chr7:66089647 [GRCh38]
Chr7:65554634 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1176G>C (p.Gly392=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002193713] Chr7:66092589 [GRCh38]
Chr7:65557576 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1389G>A (p.Gln463=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002077102] Chr7:66092906 [GRCh38]
Chr7:65557893 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.656-4C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV002108259] Chr7:66087725 [GRCh38]
Chr7:65552712 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.13-10T>C single nucleotide variant Argininosuccinate lyase deficiency [RCV002193248] Chr7:66081793 [GRCh38]
Chr7:65546780 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.849G>C (p.Leu283=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002110268] Chr7:66089106 [GRCh38]
Chr7:65554093 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.96G>C (p.Arg32=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002153279] Chr7:66081886 [GRCh38]
Chr7:65546873 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.288G>C (p.Leu96=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002145540] Chr7:66082448 [GRCh38]
Chr7:65547435 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.919-4G>T single nucleotide variant Argininosuccinate lyase deficiency [RCV002212431] Chr7:66089272 [GRCh38]
Chr7:65554259 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.306A>C (p.Ala102=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002085368] Chr7:66082894 [GRCh38]
Chr7:65547881 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.255T>C (p.Asp85=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002092478] Chr7:66082415 [GRCh38]
Chr7:65547402 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.597G>C (p.Leu199=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002140062] Chr7:66086816 [GRCh38]
Chr7:65551803 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.348+13dup duplication Argininosuccinate lyase deficiency [RCV002119273] Chr7:66082945..66082946 [GRCh38]
Chr7:65547932..65547933 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.833+7C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV002081383] Chr7:66088928 [GRCh38]
Chr7:65553915 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.241C>T (p.Leu81=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002137510] Chr7:66082401 [GRCh38]
Chr7:65547388 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.447-20C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV002083569] Chr7:66086565 [GRCh38]
Chr7:65551552 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.979-9G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV002141596] Chr7:66089603 [GRCh38]
Chr7:65554590 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.261C>T (p.Asp87=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002156428] Chr7:66082421 [GRCh38]
Chr7:65547408 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.870C>T (p.Pro290=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002083846] Chr7:66089127 [GRCh38]
Chr7:65554114 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.579G>C (p.Arg193=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002162698] Chr7:66086798 [GRCh38]
Chr7:65551785 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.292-14C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV002097861] Chr7:66082866 [GRCh38]
Chr7:65547853 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.588C>T (p.Val196=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002158236] Chr7:66086807 [GRCh38]
Chr7:65551794 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1260C>T (p.Phe420=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002221080] Chr7:66092777 [GRCh38]
Chr7:65557764 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.978+15del deletion Argininosuccinate lyase deficiency [RCV002143202] Chr7:66089346 [GRCh38]
Chr7:65554333 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.978+17G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV002179951] Chr7:66089352 [GRCh38]
Chr7:65554339 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.719-12C>A single nucleotide variant Argininosuccinate lyase deficiency [RCV002104159] Chr7:66088795 [GRCh38]
Chr7:65553782 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1077C>T (p.Asn359=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002139772] Chr7:66092020 [GRCh38]
Chr7:65557007 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1222C>T (p.Leu408=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002198807] Chr7:66092635 [GRCh38]
Chr7:65557622 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.718+8C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV002201007] Chr7:66087799 [GRCh38]
Chr7:65552786 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.974T>G (p.Leu325Ter) single nucleotide variant Argininosuccinate lyase deficiency [RCV003115297] Chr7:66089331 [GRCh38]
Chr7:65554318 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NC_000007.13:g.(?_65547857)_(65548171_?)del deletion Argininosuccinate lyase deficiency [RCV003119143] Chr7:65547857..65548171 [GRCh37]
Chr7:7q11.21
pathogenic
NC_000007.13:g.(?_65541069)_(65557899_?)dup duplication Argininosuccinate lyase deficiency [RCV003119144] Chr7:65541069..65557899 [GRCh37]
Chr7:7q11.21
uncertain significance
NC_000007.13:g.(?_65546770)_(65557899_?)dup duplication Argininosuccinate lyase deficiency [RCV003119145] Chr7:65546770..65557899 [GRCh37]
Chr7:7q11.21
uncertain significance
NC_000007.13:g.(?_65551562)_(65557909_?)dup duplication Argininosuccinate lyase deficiency [RCV003119146] Chr7:65551562..65557909 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1340G>A (p.Ser447Asn) single nucleotide variant Argininosuccinate lyase deficiency [RCV003475538]|not provided [RCV003156631] Chr7:66092857 [GRCh38]
Chr7:65557844 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.299T>A (p.Ile100Asn) single nucleotide variant Argininosuccinate lyase deficiency [RCV002248971] Chr7:66082887 [GRCh38]
Chr7:65547874 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.525-26A>C single nucleotide variant not provided [RCV002276169] Chr7:66086718 [GRCh38]
Chr7:65551705 [GRCh37]
Chr7:7q11.21
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance
NM_000048.4(ASL):c.646C>T (p.Leu216Phe) single nucleotide variant not provided [RCV002261820] Chr7:66087377 [GRCh38]
Chr7:65552364 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1175G>A (p.Gly392Glu) single nucleotide variant not provided [RCV002283076] Chr7:66092588 [GRCh38]
Chr7:65557575 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.252T>C (p.Asn84=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002837617] Chr7:66082412 [GRCh38]
Chr7:65547399 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.13-19T>C single nucleotide variant Argininosuccinate lyase deficiency [RCV003011959] Chr7:66081784 [GRCh38]
Chr7:65546771 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.143del (p.Gly48fs) deletion Argininosuccinate lyase deficiency [RCV002309326] Chr7:66081930 [GRCh38]
Chr7:65546917 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.698_699delinsA (p.Thr233fs) indel Argininosuccinate lyase deficiency [RCV002309253] Chr7:66087771..66087772 [GRCh38]
Chr7:65552758..65552759 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.118_119del (p.Gln40fs) deletion Argininosuccinate lyase deficiency [RCV002308086] Chr7:66081908..66081909 [GRCh38]
Chr7:65546895..65546896 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.57del (p.Ile20fs) deletion Argininosuccinate lyase deficiency [RCV002308109] Chr7:66081844 [GRCh38]
Chr7:65546831 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.403_404insCAAG (p.Leu135fs) insertion Argininosuccinate lyase deficiency [RCV002308203] Chr7:66083131..66083132 [GRCh38]
Chr7:65548118..65548119 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.736del (p.Ala246fs) deletion Argininosuccinate lyase deficiency [RCV002307865] Chr7:66088822 [GRCh38]
Chr7:65553809 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.117del (p.Gln40fs) deletion Argininosuccinate lyase deficiency [RCV002309155] Chr7:66081906 [GRCh38]
Chr7:65546893 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.398C>A (p.Ser133Ter) single nucleotide variant Argininosuccinate lyase deficiency [RCV002308045] Chr7:66083126 [GRCh38]
Chr7:65548113 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.493C>T (p.Gln165Ter) single nucleotide variant Argininosuccinate lyase deficiency [RCV002306544] Chr7:66086631 [GRCh38]
Chr7:65551618 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.999_1000del (p.Phe333fs) deletion Argininosuccinate lyase deficiency [RCV002310370] Chr7:66089632..66089633 [GRCh38]
Chr7:65554619..65554620 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.243_244del (p.Asn82fs) deletion Argininosuccinate lyase deficiency [RCV002307340] Chr7:66082403..66082404 [GRCh38]
Chr7:65547390..65547391 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.1374A>G (p.Leu458=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002881035] Chr7:66092891 [GRCh38]
Chr7:65557878 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1334G>A (p.Arg445His) single nucleotide variant Argininosuccinate lyase deficiency [RCV003074786]|Inborn genetic diseases [RCV003078931] Chr7:66092851 [GRCh38]
Chr7:65557838 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1371G>T (p.Ala457=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002771370] Chr7:66092888 [GRCh38]
Chr7:65557875 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.583A>G (p.Asn195Asp) single nucleotide variant Inborn genetic diseases [RCV002907211] Chr7:66086802 [GRCh38]
Chr7:65551789 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.888C>T (p.Ile296=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002994572] Chr7:66089145 [GRCh38]
Chr7:65554132 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.425_426insAGCTCCCAGCT (p.Met143fs) insertion Argininosuccinate lyase deficiency [RCV002616834] Chr7:66083153..66083154 [GRCh38]
Chr7:65548140..65548141 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.1174G>A (p.Gly392Arg) single nucleotide variant Argininosuccinate lyase deficiency [RCV003099065]|Inborn genetic diseases [RCV003092146] Chr7:66092587 [GRCh38]
Chr7:65557574 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1063-10G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV002909113] Chr7:66091996 [GRCh38]
Chr7:65556983 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.976C>T (p.Gln326Ter) single nucleotide variant Argininosuccinate lyase deficiency [RCV002996425] Chr7:66089333 [GRCh38]
Chr7:65554320 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.302G>A (p.Gly101Asp) single nucleotide variant Argininosuccinate lyase deficiency [RCV002690401] Chr7:66082890 [GRCh38]
Chr7:65547877 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.1366C>A (p.Arg456=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002750390] Chr7:66092883 [GRCh38]
Chr7:65557870 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.723G>A (p.Glu241=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002614753] Chr7:66088811 [GRCh38]
Chr7:65553798 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.834-5C>A single nucleotide variant Argininosuccinate lyase deficiency [RCV003075893] Chr7:66089086 [GRCh38]
Chr7:65554073 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1279G>A (p.Val427Met) single nucleotide variant Argininosuccinate lyase deficiency [RCV002756007] Chr7:66092796 [GRCh38]
Chr7:65557783 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.208-5T>C single nucleotide variant Argininosuccinate lyase deficiency [RCV003013640] Chr7:66082363 [GRCh38]
Chr7:65547350 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.736G>A (p.Ala246Thr) single nucleotide variant Argininosuccinate lyase deficiency [RCV002843400] Chr7:66088824 [GRCh38]
Chr7:65553811 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.291+3A>G single nucleotide variant Argininosuccinate lyase deficiency [RCV002771639] Chr7:66082454 [GRCh38]
Chr7:65547441 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.280_281insTGAAG (p.Arg94fs) insertion Argininosuccinate lyase deficiency [RCV003035600] Chr7:66082440..66082441 [GRCh38]
Chr7:65547427..65547428 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.1049T>C (p.Ile350Thr) single nucleotide variant Argininosuccinate lyase deficiency [RCV002740242] Chr7:66089682 [GRCh38]
Chr7:65554669 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.697A>T (p.Thr233Ser) single nucleotide variant Argininosuccinate lyase deficiency [RCV002623163] Chr7:66087770 [GRCh38]
Chr7:65552757 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.58del (p.Ile20fs) deletion Argininosuccinate lyase deficiency [RCV002825470] Chr7:66081848 [GRCh38]
Chr7:65546835 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.1154G>T (p.Arg385Leu) single nucleotide variant Argininosuccinate lyase deficiency [RCV003037232] Chr7:66092567 [GRCh38]
Chr7:65557554 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.918+19G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV002619818] Chr7:66089194 [GRCh38]
Chr7:65554181 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.492C>T (p.Ala164=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002694897] Chr7:66086630 [GRCh38]
Chr7:65551617 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.834-9T>C single nucleotide variant Argininosuccinate lyase deficiency [RCV002910093] Chr7:66089082 [GRCh38]
Chr7:65554069 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.611T>C (p.Ile204Thr) single nucleotide variant Inborn genetic diseases [RCV003001208] Chr7:66087342 [GRCh38]
Chr7:65552329 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.978+11G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV002620286] Chr7:66089346 [GRCh38]
Chr7:65554333 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.12+8G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV002843916] Chr7:66076101 [GRCh38]
Chr7:65541088 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.231_243del (p.Phe79fs) deletion Argininosuccinate lyase deficiency [RCV003018626] Chr7:66082390..66082402 [GRCh38]
Chr7:65547377..65547389 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.207+8C>A single nucleotide variant Argininosuccinate lyase deficiency [RCV002622517] Chr7:66082005 [GRCh38]
Chr7:65546992 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.918+8A>G single nucleotide variant Argininosuccinate lyase deficiency [RCV002659416] Chr7:66089183 [GRCh38]
Chr7:65554170 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.5C>A (p.Ala2Asp) single nucleotide variant Argininosuccinate lyase deficiency [RCV002611686]|Inborn genetic diseases [RCV002636844] Chr7:66076086 [GRCh38]
Chr7:65541073 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.834-20G>T single nucleotide variant Argininosuccinate lyase deficiency [RCV002913019] Chr7:66089071 [GRCh38]
Chr7:65554058 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.406del (p.Leu136fs) deletion Argininosuccinate lyase deficiency [RCV003019527] Chr7:66083133 [GRCh38]
Chr7:65548120 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.446+1G>C single nucleotide variant Argininosuccinate lyase deficiency [RCV003036281] Chr7:66083175 [GRCh38]
Chr7:65548162 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.385T>A (p.Cys129Ser) single nucleotide variant Argininosuccinate lyase deficiency [RCV003038842] Chr7:66083113 [GRCh38]
Chr7:65548100 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.687C>T (p.Ser229=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002590542] Chr7:66087760 [GRCh38]
Chr7:65552747 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.564G>A (p.Leu188=) single nucleotide variant Argininosuccinate lyase deficiency [RCV003018432] Chr7:66086783 [GRCh38]
Chr7:65551770 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1063-3del deletion Argininosuccinate lyase deficiency [RCV002847069] Chr7:66091999 [GRCh38]
Chr7:65556986 [GRCh37]
Chr7:7q11.21
benign
NM_000048.4(ASL):c.309G>C (p.Thr103=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002894337] Chr7:66082897 [GRCh38]
Chr7:65547884 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.979-3C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV002664142] Chr7:66089609 [GRCh38]
Chr7:65554596 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.963C>T (p.Tyr321=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002851137] Chr7:66089320 [GRCh38]
Chr7:65554307 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.655+20C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV002644399] Chr7:66087406 [GRCh38]
Chr7:65552393 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.656-12C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV002829300] Chr7:66087717 [GRCh38]
Chr7:65552704 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.18G>A (p.Gly6=) single nucleotide variant Argininosuccinate lyase deficiency [RCV003008214] Chr7:66081808 [GRCh38]
Chr7:65546795 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.811G>T (p.Val271Leu) single nucleotide variant Argininosuccinate lyase deficiency [RCV002624136] Chr7:66088899 [GRCh38]
Chr7:65553886 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.723G>C (p.Glu241Asp) single nucleotide variant Argininosuccinate lyase deficiency [RCV002828337] Chr7:66088811 [GRCh38]
Chr7:65553798 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.398C>G (p.Ser133Trp) single nucleotide variant Argininosuccinate lyase deficiency [RCV002828355] Chr7:66083126 [GRCh38]
Chr7:65548113 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1206G>A (p.Gly402=) single nucleotide variant Argininosuccinate lyase deficiency [RCV003056278] Chr7:66092619 [GRCh38]
Chr7:65557606 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1215C>T (p.Leu405=) single nucleotide variant Argininosuccinate lyase deficiency [RCV003025273] Chr7:66092628 [GRCh38]
Chr7:65557615 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.348+8dup duplication Argininosuccinate lyase deficiency [RCV003023734] Chr7:66082943..66082944 [GRCh38]
Chr7:65547930..65547931 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1135C>G (p.Arg379Gly) single nucleotide variant Argininosuccinate lyase deficiency [RCV002624490] Chr7:66092078 [GRCh38]
Chr7:65557065 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.251A>G (p.Asn84Ser) single nucleotide variant Inborn genetic diseases [RCV002875379] Chr7:66082411 [GRCh38]
Chr7:65547398 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1221G>A (p.Gln407=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002596305] Chr7:66092634 [GRCh38]
Chr7:65557621 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.990A>G (p.Glu330=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002853061] Chr7:66089623 [GRCh38]
Chr7:65554610 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.681C>T (p.Leu227=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002875787] Chr7:66087754 [GRCh38]
Chr7:65552741 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.291G>A (p.Lys97=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002640684] Chr7:66082451 [GRCh38]
Chr7:65547438 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1296C>T (p.His432=) single nucleotide variant Argininosuccinate lyase deficiency [RCV003043380] Chr7:66092813 [GRCh38]
Chr7:65557800 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.229G>C (p.Gly77Arg) single nucleotide variant Argininosuccinate lyase deficiency [RCV002667519] Chr7:66082389 [GRCh38]
Chr7:65547376 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.465C>T (p.Phe155=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002871827] Chr7:66086603 [GRCh38]
Chr7:65551590 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.348+5T>C single nucleotide variant Inborn genetic diseases [RCV002873366] Chr7:66082941 [GRCh38]
Chr7:65547928 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.603-7C>G single nucleotide variant Argininosuccinate lyase deficiency [RCV002894372] Chr7:66087327 [GRCh38]
Chr7:65552314 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.717G>A (p.Val239=) single nucleotide variant Argininosuccinate lyase deficiency [RCV003041172] Chr7:66087790 [GRCh38]
Chr7:65552777 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.919-12C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV002711669] Chr7:66089264 [GRCh38]
Chr7:65554251 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.813G>A (p.Val271=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002649393] Chr7:66088901 [GRCh38]
Chr7:65553888 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.447-10T>C single nucleotide variant Argininosuccinate lyase deficiency [RCV003026410] Chr7:66086575 [GRCh38]
Chr7:65551562 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1062+13C>A single nucleotide variant Argininosuccinate lyase deficiency [RCV003087031] Chr7:66089708 [GRCh38]
Chr7:65554695 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.99C>A (p.His33Gln) single nucleotide variant Argininosuccinate lyase deficiency [RCV002988376] Chr7:66081889 [GRCh38]
Chr7:65546876 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.837G>A (p.Thr279=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002629143] Chr7:66089094 [GRCh38]
Chr7:65554081 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.656-6C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV002898626] Chr7:66087723 [GRCh38]
Chr7:65552710 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1368G>A (p.Arg456=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002895552] Chr7:66092885 [GRCh38]
Chr7:65557872 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.849G>A (p.Leu283=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002671345] Chr7:66089106 [GRCh38]
Chr7:65554093 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.1358G>T (p.Arg453Leu) single nucleotide variant Argininosuccinate lyase deficiency [RCV002598737] Chr7:66092875 [GRCh38]
Chr7:65557862 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1354A>T (p.Ile452Phe) single nucleotide variant Argininosuccinate lyase deficiency [RCV002806261] Chr7:66092871 [GRCh38]
Chr7:65557858 [GRCh37]
Chr7:7q11.21
likely pathogenic|conflicting interpretations of pathogenicity
NM_000048.4(ASL):c.562C>T (p.Leu188=) single nucleotide variant Argininosuccinate lyase deficiency [RCV003029057] Chr7:66086781 [GRCh38]
Chr7:65551768 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.719-13C>A single nucleotide variant Argininosuccinate lyase deficiency [RCV003088183] Chr7:66088794 [GRCh38]
Chr7:65553781 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.691G>C (p.Asp231His) single nucleotide variant Argininosuccinate lyase deficiency [RCV002597891] Chr7:66087764 [GRCh38]
Chr7:65552751 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.866A>C (p.Asn289Thr) single nucleotide variant Inborn genetic diseases [RCV002831185] Chr7:66089123 [GRCh38]
Chr7:65554110 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1267G>C (p.Asp423His) single nucleotide variant Argininosuccinate lyase deficiency [RCV003060118] Chr7:66092784 [GRCh38]
Chr7:65557771 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.1382C>T (p.Ala461Val) single nucleotide variant Argininosuccinate lyase deficiency [RCV003086200] Chr7:66092899 [GRCh38]
Chr7:65557886 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1040C>T (p.Thr347Ile) single nucleotide variant Argininosuccinate lyase deficiency [RCV002631589] Chr7:66089673 [GRCh38]
Chr7:65554660 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.656-6C>A single nucleotide variant Argininosuccinate lyase deficiency [RCV002646732] Chr7:66087723 [GRCh38]
Chr7:65552710 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.932T>C (p.Leu311Pro) single nucleotide variant Argininosuccinate lyase deficiency [RCV003087594] Chr7:66089289 [GRCh38]
Chr7:65554276 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.1345G>C (p.Asp449His) single nucleotide variant Inborn genetic diseases [RCV002832282] Chr7:66092862 [GRCh38]
Chr7:65557849 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.398C>T (p.Ser133Leu) single nucleotide variant Argininosuccinate lyase deficiency [RCV002630024] Chr7:66083126 [GRCh38]
Chr7:65548113 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.978+5G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV003091621] Chr7:66089340 [GRCh38]
Chr7:65554327 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.907G>A (p.Val303Met) single nucleotide variant Argininosuccinate lyase deficiency [RCV003068435] Chr7:66089164 [GRCh38]
Chr7:65554151 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.452G>A (p.Arg151His) single nucleotide variant Argininosuccinate lyase deficiency [RCV003050869] Chr7:66086590 [GRCh38]
Chr7:65551577 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.225C>A (p.Ala75=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002634679] Chr7:66082385 [GRCh38]
Chr7:65547372 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.979-18C>G single nucleotide variant Argininosuccinate lyase deficiency [RCV003067098] Chr7:66089594 [GRCh38]
Chr7:65554581 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.467C>A (p.Pro156Gln) single nucleotide variant Argininosuccinate lyase deficiency [RCV002725527] Chr7:66086605 [GRCh38]
Chr7:65551592 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.1185G>C (p.Val395=) single nucleotide variant Argininosuccinate lyase deficiency [RCV003051098] Chr7:66092598 [GRCh38]
Chr7:65557585 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.627G>A (p.Leu209=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002609446] Chr7:66087358 [GRCh38]
Chr7:65552345 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.94C>T (p.Arg32Trp) single nucleotide variant Argininosuccinate lyase deficiency [RCV003071561] Chr7:66081884 [GRCh38]
Chr7:65546871 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.767T>C (p.Met256Thr) single nucleotide variant Argininosuccinate lyase deficiency [RCV002943663]|not specified [RCV003388135] Chr7:66088855 [GRCh38]
Chr7:65553842 [GRCh37]
Chr7:7q11.21
likely pathogenic|uncertain significance
NM_000048.4(ASL):c.656-9C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV002585453] Chr7:66087720 [GRCh38]
Chr7:65552707 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.388T>C (p.Ser130Pro) single nucleotide variant Argininosuccinate lyase deficiency [RCV003032120] Chr7:66083116 [GRCh38]
Chr7:65548103 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.656-5C>G single nucleotide variant Argininosuccinate lyase deficiency [RCV003071145] Chr7:66087724 [GRCh38]
Chr7:65552711 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.446+14G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV002610864] Chr7:66083188 [GRCh38]
Chr7:65548175 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.834-13C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV002633544] Chr7:66089078 [GRCh38]
Chr7:65554065 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.909G>A (p.Val303=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002942630] Chr7:66089166 [GRCh38]
Chr7:65554153 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.586G>A (p.Val196Ile) single nucleotide variant Argininosuccinate lyase deficiency [RCV002634945] Chr7:66086805 [GRCh38]
Chr7:65551792 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.165C>T (p.Leu55=) single nucleotide variant Argininosuccinate lyase deficiency [RCV002611403] Chr7:66081955 [GRCh38]
Chr7:65546942 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.52G>A (p.Asp18Asn) single nucleotide variant Inborn genetic diseases [RCV002655969] Chr7:66081842 [GRCh38]
Chr7:65546829 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.978+1G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV003155643] Chr7:66089336 [GRCh38]
Chr7:65554323 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.478del (p.His160fs) deletion Argininosuccinate lyase deficiency [RCV003159555] Chr7:66086614 [GRCh38]
Chr7:65551601 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.436C>G (p.Arg146Gly) single nucleotide variant Argininosuccinate lyase deficiency [RCV003324325] Chr7:66083164 [GRCh38]
Chr7:65548151 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.687C>G (p.Ser229Arg) single nucleotide variant not specified [RCV003324330] Chr7:66087760 [GRCh38]
Chr7:65552747 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.208-6C>G single nucleotide variant not provided [RCV003334291] Chr7:66082362 [GRCh38]
Chr7:65547349 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.35G>T (p.Arg12Leu) single nucleotide variant not specified [RCV003331669] Chr7:66081825 [GRCh38]
Chr7:65546812 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.434A>G (p.Asp145Gly) single nucleotide variant Argininosuccinate lyase deficiency [RCV003475563]|not specified [RCV003331818] Chr7:66083162 [GRCh38]
Chr7:65548149 [GRCh37]
Chr7:7q11.21
likely pathogenic|uncertain significance
NM_000048.4(ASL):c.83T>C (p.Ile28Thr) single nucleotide variant Inborn genetic diseases [RCV003354164] Chr7:66081873 [GRCh38]
Chr7:65546860 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.1331C>T (p.Ala444Val) single nucleotide variant Argininosuccinate lyase deficiency [RCV003472630] Chr7:66092848 [GRCh38]
Chr7:65557835 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.1143+1G>T single nucleotide variant Argininosuccinate lyase deficiency [RCV003472682] Chr7:66092087 [GRCh38]
Chr7:65557074 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.106G>T (p.Glu36Ter) single nucleotide variant Argininosuccinate lyase deficiency [RCV003472758] Chr7:66081896 [GRCh38]
Chr7:65546883 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.1063-12C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV003873361] Chr7:66091994 [GRCh38]
Chr7:65556981 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.822A>G (p.Ser274=) single nucleotide variant Argininosuccinate lyase deficiency [RCV003875173] Chr7:66088910 [GRCh38]
Chr7:65553897 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.48A>G (p.Ala16=) single nucleotide variant Argininosuccinate lyase deficiency [RCV003874407] Chr7:66081838 [GRCh38]
Chr7:65546825 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.603-2A>G single nucleotide variant Argininosuccinate lyase deficiency [RCV003472713] Chr7:66087332 [GRCh38]
Chr7:65552319 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.617G>T (p.Gly206Val) single nucleotide variant Argininosuccinate lyase deficiency [RCV003472620] Chr7:66087348 [GRCh38]
Chr7:65552335 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.348+1G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV003472721] Chr7:66082937 [GRCh38]
Chr7:65547924 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.834-1G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV003472784] Chr7:66089090 [GRCh38]
Chr7:65554077 [GRCh37]
Chr7:7q11.21
pathogenic|likely pathogenic
NM_000048.4(ASL):c.1062+5G>C single nucleotide variant Argininosuccinate lyase deficiency [RCV003472650] Chr7:66089700 [GRCh38]
Chr7:65554687 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.638G>C (p.Arg213Pro) single nucleotide variant Argininosuccinate lyase deficiency [RCV003872708] Chr7:66087369 [GRCh38]
Chr7:65552356 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.1143+1G>C single nucleotide variant Argininosuccinate lyase deficiency [RCV003472697] Chr7:66092087 [GRCh38]
Chr7:65557074 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.721G>A (p.Glu241Lys) single nucleotide variant Argininosuccinate lyase deficiency [RCV003472729] Chr7:66088809 [GRCh38]
Chr7:65553796 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.305dup (p.Thr103fs) duplication Argininosuccinate lyase deficiency [RCV003472779] Chr7:66082892..66082893 [GRCh38]
Chr7:65547879..65547880 [GRCh37]
Chr7:7q11.21
likely pathogenic
GRCh37/hg19 7q11.21(chr7:65521172-65716867)x1 copy number loss not provided [RCV003482958] Chr7:65521172..65716867 [GRCh37]
Chr7:7q11.21
uncertain significance
NM_000048.4(ASL):c.656-1G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV003472639] Chr7:66087728 [GRCh38]
Chr7:65552715 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.870del (p.Asp291fs) deletion Argininosuccinate lyase deficiency [RCV003472641] Chr7:66089124 [GRCh38]
Chr7:65554111 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.803del (p.Phe268fs) deletion Argininosuccinate lyase deficiency [RCV003472795] Chr7:66088890 [GRCh38]
Chr7:65553877 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.208-1G>T single nucleotide variant Argininosuccinate lyase deficiency [RCV003472645] Chr7:66082367 [GRCh38]
Chr7:65547354 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.311C>T (p.Ala104Val) single nucleotide variant Argininosuccinate lyase deficiency [RCV003472661] Chr7:66082899 [GRCh38]
Chr7:65547886 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.29del (p.Gly10fs) deletion Argininosuccinate lyase deficiency [RCV003472617] Chr7:66081816 [GRCh38]
Chr7:65546803 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.226C>T (p.Gln76Ter) single nucleotide variant Argininosuccinate lyase deficiency [RCV003472644] Chr7:66082386 [GRCh38]
Chr7:65547373 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.629del (p.Gly210fs) deletion Argininosuccinate lyase deficiency [RCV003472700] Chr7:66087358 [GRCh38]
Chr7:65552345 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.569_573dup (p.Lys192fs) duplication Argininosuccinate lyase deficiency [RCV003472708] Chr7:66086785..66086786 [GRCh38]
Chr7:65551772..65551773 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.329dup (p.Arg111fs) duplication Argininosuccinate lyase deficiency [RCV003472776] Chr7:66082914..66082915 [GRCh38]
Chr7:65547901..65547902 [GRCh37]
Chr7:7q11.21
likely pathogenic
NM_000048.4(ASL):c.374T>C (p.Met125Thr) single nucleotide variant Neurodevelopmental disorder [RCV003389212] Chr7:66083102 [GRCh38]
Chr7:65548089 [GRCh37]
Chr7:7q11.21
likely pathogenic
GRCh37/hg19 7q11.21(chr7:65546790-65548161)x0 copy number loss not provided [RCV003457531] Chr7:65546790..65548161 [GRCh37]
Chr7:7q11.21
pathogenic
NM_000048.4(ASL):c.978+15G>A single nucleotide variant Argininosuccinate lyase deficiency [RCV003878511] Chr7:66089350 [GRCh38]
Chr7:65554337 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.718+7C>T single nucleotide variant Argininosuccinate lyase deficiency [RCV003876510] Chr7:66087798 [GRCh38]
Chr7:65552785 [GRCh37]
Chr7:7q11.21
likely benign
NM_000048.4(ASL):c.979-13A>G single nucleotide variant Argininosuccinate lyase deficiency [RCV003879531] Chr7:66089599 [GRCh38]
Chr7:65554586 [GRCh37]
Chr7:7q11.21
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4111
Count of miRNA genes:844
Interacting mature miRNAs:1025
Transcripts:ENST00000304874, ENST00000362000, ENST00000380839, ENST00000395331, ENST00000395332, ENST00000464970, ENST00000487982, ENST00000488343, ENST00000493708, ENST00000496336
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-144290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372223,998,515 - 23,998,841UniSTSGRCh37
GRCh37765,542,758 - 65,543,084UniSTSGRCh37
Build 36765,180,193 - 65,180,519RGDNCBI36
Celera766,570,633 - 66,570,959RGD
Celera227,837,603 - 7,837,929UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map7q11.21UniSTS
HuRef761,729,607 - 61,729,933UniSTS
HuRef226,987,764 - 6,988,090UniSTS
CRA_TCAGchr7v2764,880,263 - 64,880,589UniSTS
TNG Radiation Hybrid Map729088.0UniSTS
ASL  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37765,553,823 - 65,554,295UniSTSGRCh37
GRCh37765,546,789 - 65,546,989UniSTSGRCh37
Build 36765,184,224 - 65,184,424RGDNCBI36
Celera766,559,423 - 66,559,895UniSTS
Celera766,566,727 - 66,566,927RGD
Cytogenetic Map7q11.21UniSTS
HuRef761,733,639 - 61,733,839UniSTS
HuRef761,740,671 - 61,741,143UniSTS
CRA_TCAGchr7v2764,891,323 - 64,891,795UniSTS
CRA_TCAGchr7v2764,884,294 - 64,884,494UniSTS
RH46913  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372223,991,435 - 23,991,680UniSTSGRCh37
GRCh37765,557,583 - 65,557,860UniSTSGRCh37
Build 36765,195,018 - 65,195,295RGDNCBI36
Celera766,555,858 - 66,556,135RGD
Celera227,830,523 - 7,830,768UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map7q11.21UniSTS
HuRef761,744,427 - 61,744,704UniSTS
HuRef226,980,690 - 6,980,935UniSTS
CRA_TCAGchr7v2764,895,080 - 64,895,357UniSTS
GeneMap99-GB4 RH Map2251.14UniSTS
WI-22687  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372223,990,848 - 23,990,973UniSTSGRCh37
GRCh37765,558,331 - 65,558,456UniSTSGRCh37
Build 36765,195,766 - 65,195,891RGDNCBI36
Celera227,829,936 - 7,830,061UniSTS
Celera766,555,262 - 66,555,387RGD
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map22q11.23UniSTS
HuRef226,980,103 - 6,980,228UniSTS
HuRef761,745,175 - 61,745,300UniSTS
CRA_TCAGchr7v2764,895,828 - 64,895,953UniSTS
GeneMap99-GB4 RH Map2245.75UniSTS
Whitehead-RH Map2246.7UniSTS
NCBI RH Map2262.1UniSTS
GDB:434012  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q31.2-q33.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p21.3-p13.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map10p11.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map14q31UniSTS
RH79831  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q11.21UniSTS
HuRef761,744,783 - 61,745,020UniSTS


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 2412 2144 1690 615 1690 460 3508 1021 2088 389 1101 1570 169 1202 1990 3
Low 27 846 36 9 261 5 848 1175 1645 30 359 43 6 1 2 798 3 2
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001024943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001024944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001024946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC068533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF376770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH001422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI469765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY203938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ949510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU634268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX328836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M14218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M38439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M38440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M57638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y00753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000304874   ⟹   ENSP00000307188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl766,075,819 - 66,093,576 (+)Ensembl
RefSeq Acc Id: ENST00000362000   ⟹   ENSP00000354710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl766,075,937 - 66,092,955 (+)Ensembl
RefSeq Acc Id: ENST00000380839   ⟹   ENSP00000370219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl766,075,847 - 66,093,334 (+)Ensembl
RefSeq Acc Id: ENST00000395331   ⟹   ENSP00000378740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl766,075,944 - 66,092,917 (+)Ensembl
RefSeq Acc Id: ENST00000395332   ⟹   ENSP00000378741
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl766,075,889 - 66,092,932 (+)Ensembl
RefSeq Acc Id: ENST00000464970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl766,089,239 - 66,092,954 (+)Ensembl
RefSeq Acc Id: ENST00000487982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl766,075,834 - 66,087,160 (+)Ensembl
RefSeq Acc Id: ENST00000488343   ⟹   ENSP00000500864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl766,088,920 - 66,092,954 (+)Ensembl
RefSeq Acc Id: ENST00000493708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl766,087,693 - 66,092,921 (+)Ensembl
RefSeq Acc Id: ENST00000496336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl766,075,841 - 66,083,343 (+)Ensembl
RefSeq Acc Id: ENST00000671817   ⟹   ENSP00000500462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl766,075,945 - 66,092,063 (+)Ensembl
RefSeq Acc Id: ENST00000672498   ⟹   ENSP00000500227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl766,075,834 - 66,094,697 (+)Ensembl
RefSeq Acc Id: ENST00000672586
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl766,075,800 - 66,092,930 (+)Ensembl
RefSeq Acc Id: ENST00000672676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl766,075,912 - 66,092,934 (+)Ensembl
RefSeq Acc Id: ENST00000673149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl766,082,684 - 66,092,926 (+)Ensembl
RefSeq Acc Id: ENST00000673350
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl766,075,834 - 66,092,920 (+)Ensembl
RefSeq Acc Id: ENST00000673518   ⟹   ENSP00000499889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl766,075,822 - 66,092,953 (+)Ensembl
RefSeq Acc Id: ENST00000673594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl766,081,942 - 66,087,637 (+)Ensembl
RefSeq Acc Id: NM_000048   ⟹   NP_000039
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38766,075,819 - 66,093,576 (+)NCBI
GRCh37765,540,776 - 65,558,330 (+)ENTREZGENE
GRCh37765,540,776 - 65,558,330 (+)NCBI
Build 36765,178,211 - 65,195,765 (+)NCBI Archive
HuRef761,727,625 - 61,745,174 (+)ENTREZGENE
CHM1_1765,636,440 - 65,653,994 (+)NCBI
T2T-CHM13v2.0767,297,906 - 67,315,665 (+)NCBI
CRA_TCAGchr7v2764,878,281 - 64,895,827 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001024943   ⟹   NP_001020114
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38766,075,819 - 66,093,576 (+)NCBI
GRCh37765,540,776 - 65,558,330 (+)ENTREZGENE
GRCh37765,540,776 - 65,558,330 (+)NCBI
Build 36765,178,269 - 65,195,765 (+)NCBI Archive
HuRef761,727,625 - 61,745,174 (+)ENTREZGENE
CHM1_1765,636,498 - 65,653,994 (+)NCBI
T2T-CHM13v2.0767,297,906 - 67,315,665 (+)NCBI
CRA_TCAGchr7v2764,878,281 - 64,895,827 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001024944   ⟹   NP_001020115
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38766,075,819 - 66,093,576 (+)NCBI
GRCh37765,540,776 - 65,558,330 (+)ENTREZGENE
Build 36765,178,269 - 65,195,765 (+)NCBI Archive
HuRef761,727,625 - 61,745,174 (+)ENTREZGENE
CHM1_1765,636,498 - 65,653,994 (+)NCBI
T2T-CHM13v2.0767,297,906 - 67,315,665 (+)NCBI
CRA_TCAGchr7v2764,878,281 - 64,895,827 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001024946   ⟹   NP_001020117
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38766,075,819 - 66,093,576 (+)NCBI
GRCh37765,540,776 - 65,558,330 (+)ENTREZGENE
Build 36765,178,269 - 65,195,765 (+)NCBI Archive
HuRef761,727,625 - 61,745,174 (+)ENTREZGENE
CHM1_1765,636,498 - 65,653,994 (+)NCBI
T2T-CHM13v2.0767,297,906 - 67,315,665 (+)NCBI
CRA_TCAGchr7v2764,878,281 - 64,895,827 (+)ENTREZGENE
Sequence:
Protein Sequences
Protein RefSeqs NP_000039 (Get FASTA)   NCBI Sequence Viewer  
  NP_001020114 (Get FASTA)   NCBI Sequence Viewer  
  NP_001020115 (Get FASTA)   NCBI Sequence Viewer  
  NP_001020117 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35566 (Get FASTA)   NCBI Sequence Viewer  
  AAA51786 (Get FASTA)   NCBI Sequence Viewer  
  AAA51787 (Get FASTA)   NCBI Sequence Viewer  
  AAA51788 (Get FASTA)   NCBI Sequence Viewer  
  AAH08195 (Get FASTA)   NCBI Sequence Viewer  
  AAH33146 (Get FASTA)   NCBI Sequence Viewer  
  AAL57276 (Get FASTA)   NCBI Sequence Viewer  
  AAP34461 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33378 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33379 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33380 (Get FASTA)   NCBI Sequence Viewer  
  BAG62231 (Get FASTA)   NCBI Sequence Viewer  
  BAH14705 (Get FASTA)   NCBI Sequence Viewer  
  CAA68722 (Get FASTA)   NCBI Sequence Viewer  
  EAX07944 (Get FASTA)   NCBI Sequence Viewer  
  EAX07945 (Get FASTA)   NCBI Sequence Viewer  
  EAX07946 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000307188
  ENSP00000307188.9
  ENSP00000354710.6
  ENSP00000370219
  ENSP00000370219.4
  ENSP00000378740
  ENSP00000378740.3
  ENSP00000378741
  ENSP00000378741.3
  ENSP00000499889.1
  ENSP00000500227.1
  ENSP00000500462.1
  ENSP00000500864.1
GenBank Protein P04424 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000039   ⟸   NM_000048
- Peptide Label: isoform 1
- UniProtKB: Q6LDS5 (UniProtKB/Swiss-Prot),   E9PE48 (UniProtKB/Swiss-Prot),   E7EMI0 (UniProtKB/Swiss-Prot),   Q96HS2 (UniProtKB/Swiss-Prot),   P04424 (UniProtKB/Swiss-Prot),   A0A024RDL8 (UniProtKB/TrEMBL),   F8W943 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001020114   ⟸   NM_001024943
- Peptide Label: isoform 1
- UniProtKB: Q6LDS5 (UniProtKB/Swiss-Prot),   E9PE48 (UniProtKB/Swiss-Prot),   E7EMI0 (UniProtKB/Swiss-Prot),   Q96HS2 (UniProtKB/Swiss-Prot),   P04424 (UniProtKB/Swiss-Prot),   A0A024RDL8 (UniProtKB/TrEMBL),   F8W943 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001020115   ⟸   NM_001024944
- Peptide Label: isoform 2
- UniProtKB: F8W943 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001020117   ⟸   NM_001024946
- Peptide Label: isoform 3
- UniProtKB: A0A0S2Z316 (UniProtKB/TrEMBL),   A0A0S2Z3B0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000499889   ⟸   ENST00000673518
RefSeq Acc Id: ENSP00000354710   ⟸   ENST00000362000
RefSeq Acc Id: ENSP00000370219   ⟸   ENST00000380839
RefSeq Acc Id: ENSP00000500864   ⟸   ENST00000488343
RefSeq Acc Id: ENSP00000378740   ⟸   ENST00000395331
RefSeq Acc Id: ENSP00000378741   ⟸   ENST00000395332
RefSeq Acc Id: ENSP00000500462   ⟸   ENST00000671817
RefSeq Acc Id: ENSP00000307188   ⟸   ENST00000304874
RefSeq Acc Id: ENSP00000500227   ⟸   ENST00000672498
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P04424-F1-model_v2 AlphaFold P04424 1-464 view protein structure

Promoters
RGD ID:6805254
Promoter ID:HG_KWN:57782
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000380839,   ENST00000395331,   ENST00000395332,   OTTHUMT00000251695,   OTTHUMT00000345100,   OTTHUMT00000345105,   UC010KZX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36765,178,046 - 65,178,546 (+)MPROMDB
RGD ID:6813141
Promoter ID:HG_ACW:72503
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:ASLANDRCP9.NAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36765,202,179 - 65,202,679 (+)MPROMDB
RGD ID:7210689
Promoter ID:EPDNEW_H11091
Type:initiation region
Name:ASL_1
Description:argininosuccinate lyase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11092  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38766,075,834 - 66,075,894EPDNEW
RGD ID:7210697
Promoter ID:EPDNEW_H11092
Type:initiation region
Name:ASL_2
Description:argininosuccinate lyase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11091  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38766,075,937 - 66,075,997EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:746 AgrOrtholog
COSMIC ASL COSMIC
Ensembl Genes ENSG00000126522 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000304874 ENTREZGENE
  ENST00000304874.14 UniProtKB/Swiss-Prot
  ENST00000362000.10 UniProtKB/TrEMBL
  ENST00000380839 ENTREZGENE
  ENST00000380839.9 UniProtKB/Swiss-Prot
  ENST00000395331 ENTREZGENE
  ENST00000395331.4 UniProtKB/Swiss-Prot
  ENST00000395332 ENTREZGENE
  ENST00000395332.8 UniProtKB/Swiss-Prot
  ENST00000488343.2 UniProtKB/TrEMBL
  ENST00000671817.1 UniProtKB/TrEMBL
  ENST00000672498.1 UniProtKB/TrEMBL
  ENST00000673518.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.275.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fumarase/aspartase (C-terminal domain) UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fumarase/aspartase (Central domain) UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000126522 GTEx
HGNC ID HGNC:746 ENTREZGENE
Human Proteome Map ASL Human Proteome Map
InterPro Arg_succ_lyase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Argininosuccinate_lyase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fumarase/histidase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fumarate_lyase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fumarate_lyase_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fumarate_lyase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L-Aspartase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:435 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 435 ENTREZGENE
OMIM 608310 OMIM
PANTHER ARGININOSUCCINATE LYASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR43814 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ASL_C2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lyase_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25046 PharmGKB
PRINTS ARGSUCLYASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FUMRATELYASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FUMARATE_LYASES UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48557 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RDL8 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z316 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z3B0 ENTREZGENE, UniProtKB/TrEMBL
  A0A5F9ZHC6_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHM8_HUMAN UniProtKB/TrEMBL
  A0A5F9ZI35_HUMAN UniProtKB/TrEMBL
  ARLY_HUMAN UniProtKB/Swiss-Prot
  E7EMI0 ENTREZGENE
  E9PE48 ENTREZGENE
  F8W943 ENTREZGENE, UniProtKB/TrEMBL
  P04424 ENTREZGENE
  Q6LDS5 ENTREZGENE
  Q96HS2 ENTREZGENE
UniProt Secondary E7EMI0 UniProtKB/Swiss-Prot
  E9PE48 UniProtKB/Swiss-Prot
  Q6LDS5 UniProtKB/Swiss-Prot
  Q96HS2 UniProtKB/Swiss-Prot