AHCY (adenosylhomocysteinase) - Rat Genome Database

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Advanced Search (OLGA)
Gene: AHCY (adenosylhomocysteinase) Homo sapiens
Analyze
Symbol: AHCY
Name: adenosylhomocysteinase
RGD ID: 731745
HGNC Page HGNC:343
Description: Enables adenosylhomocysteinase activity. Predicted to be involved in S-adenosylmethionine cycle. Predicted to act upstream of or within S-adenosylhomocysteine catabolic process. Located in cytosol. Implicated in abdominal aortic aneurysm and hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: adoHcyase; S-adenosyl-L-homocysteine hydrolase; S-adenosylhomocysteine hydrolase; SAHH
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AHCYP1   AHCYP2   AHCYP3   AHCYP4   AHCYP5   AHCYP6   AHCYP7   AHCYP8  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382034,231,981 - 34,311,836 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2034,280,268 - 34,311,802 (-)EnsemblGRCh38hg38GRCh38
GRCh372032,868,074 - 32,899,608 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362032,331,737 - 32,354,784 (-)NCBINCBI36Build 36hg18NCBI36
Build 342032,331,736 - 32,354,784NCBI
Celera2029,617,551 - 29,649,079 (-)NCBICelera
Cytogenetic Map20q11.22ENTREZGENE
HuRef2029,649,874 - 29,681,357 (-)NCBIHuRef
CHM1_12032,769,165 - 32,800,706 (-)NCBICHM1_1
T2T-CHM13v2.02035,953,425 - 36,034,942 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrabromodibenzodioxine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-hydroxypropanoic acid  (EXP)
2-palmitoylglycerol  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
actinomycin D  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
azoxystrobin  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP)
benzo[b]fluoranthene  (ISO)
benzoates  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
buspirone  (ISO)
buta-1,3-diene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
carbon nanotube  (ISO)
ceruletide  (ISO)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
CU-O LINKAGE  (EXP)
D-penicillamine  (ISO)
diarsenic trioxide  (EXP)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
flavonoids  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fumonisin B1  (ISO)
glafenine  (ISO)
glycine betaine  (ISO)
homocysteine  (EXP)
isoprenaline  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
leflunomide  (ISO)
lipopolysaccharide  (EXP)
lovastatin  (ISO)
methapyrilene  (ISO)
methidathion  (ISO)
methotrexate  (ISO)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nitrofen  (ISO)
Nonylphenol  (ISO)
Nutlin-3  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
parathion  (ISO)
PCB138  (ISO)
perfluorododecanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
Propiverine  (ISO)
pyrimidifen  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rotenone  (EXP)
S-adenosyl-L-homocysteine  (EXP)
sarin  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP)
streptozocin  (ISO)
T-2 toxin  (EXP)
tetrachloromethane  (ISO)
tetrahydrocurcumin  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
Triptolide  (ISO)
tungsten  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
warfarin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal aortic aneurysm  (IAGP)
Abnormal circulating homocysteine concentration  (IAGP)
Abnormal circulating methionine concentration  (IAGP)
Abnormal facial shape  (IAGP)
Abnormality of coagulation  (IAGP)
Abnormality of hair texture  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the liver  (IAGP)
Atypical behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Cardiomyopathy  (IAGP)
Cerebellar hypoplasia  (IAGP)
CNS hypomyelination  (IAGP)
Decreased hepatic echogenicity  (IAGP)
Decreased tissue S-adenosylhomocysteine hydrolase activity  (IAGP)
Delayed myelination  (IAGP)
Developmental regression  (IAGP)
Elevated circulating alanine aminotransferase concentration  (IAGP)
Elevated circulating aspartate aminotransferase concentration  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Elevated coagulation factor V activity  (IAGP)
Esodeviation  (IAGP)
Esotropia  (IAGP)
Failure to thrive  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hepatocellular carcinoma  (IAGP)
Hydrops fetalis  (IAGP)
Hyperhomocystinemia  (IAGP)
Hyperintensity of cerebral white matter on MRI  (IAGP)
Hypermethioninemia  (IAGP)
Hypoalbuminemia  (IAGP)
Hypofibrinogenemia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the pons  (IAGP)
Hypotonia  (IAGP)
Increased circulating creatine kinase MM isoform  (IAGP)
Increased variability in muscle fiber diameter  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Microcephaly  (IAGP)
Motor delay  (IAGP)
Muscle weakness  (IAGP)
Muscular dystrophy  (IAGP)
Pes planus  (IAGP)
Poor head control  (IAGP)
Prolonged prothrombin time  (IAGP)
Prolonged QT interval  (IAGP)
Reduced antithrombin III activity  (IAGP)
Reduced factor VII activity  (IAGP)
Reduced glutathione synthetase level  (IAGP)
Respiratory failure  (IAGP)
Rhabdomyolysis  (IAGP)
Sensorimotor neuropathy  (IAGP)
Short attention span  (IAGP)
Strabismus  (IAGP)
Ventriculomegaly  (IAGP)
Widened subarachnoid space  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. Baric I, etal., Proc Natl Acad Sci U S A 2004 Mar 23;101(12):4234-9. Epub 2004 Mar 15.
2. Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects. Blom HJ and Smulders Y, J Inherit Metab Dis. 2011 Feb;34(1):75-81. doi: 10.1007/s10545-010-9177-4. Epub 2010 Sep 4.
3. Effect of hyperhomocysteinemia on plasma or tissue adenosine levels and renal function. Chen YF, etal., Circulation. 2002 Sep 3;106(10):1275-81.
4. Aminooxy analogues of spermidine as inhibitors of spermine synthase and substrates of hepatic polyamine acetylating activity. Eloranta TO, etal., J Biochem. 1990 Oct;108(4):593-8.
5. Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm. Giusti B, etal., J Med Genet. 2008 Nov;45(11):721-30. doi: 10.1136/jmg.2008.057851. Epub 2008 Jul 17.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. Inhibition of S-adenosylhomocysteine hydrolase by acyclic sugar adenosine analogue D-eritadenine. Crystal structure of S-adenosylhomocysteine hydrolase complexed with D-eritadenine. Huang Y, etal., J Biol Chem 2002 Mar 1;277(9):7477-82.
8. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
9. S-adenosylmethionine in liver health, injury, and cancer. Lu SC and Mato JM, Physiol Rev. 2012 Oct;92(4):1515-42. doi: 10.1152/physrev.00047.2011.
10. Effect of vitamin B6 deficiency on the synthesis and accumulation of S-adenosylhomocysteine and S-adenosylmethionine in rat tissues. Nguyen TT, etal., J Nutr Sci Vitaminol (Tokyo). 2001 Jun;47(3):188-94.
11. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
12. 3-Deazaadenosine mitigates arterial remodeling and hypertension in hyperhomocysteinemic mice. Ovechkin AV, etal., Am J Physiol Lung Cell Mol Physiol. 2006 Nov;291(5):L905-11. Epub 2006 Jun 30.
13. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
14. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
15. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
16. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
17. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
18. S-Adenosyl-L-homocysteine hydrolase inhibitor mediates immunosuppressive effects in vivo: suppression of delayed type hypersensitivity ear swelling and peptidoglycan polysaccharide-induced arthritis. Saso Y, etal., J Pharmacol Exp Ther. 2001 Jan;296(1):106-12.
19. Tetrahydrocurcumin ameliorates homocysteinylated cytochrome-c mediated autophagy in hyperhomocysteinemia mice after cerebral ischemia. Tyagi N, etal., J Mol Neurosci. 2012 May;47(1):128-38. doi: 10.1007/s12031-011-9695-z. Epub 2012 Jan 3.
Additional References at PubMed
PMID:309884   PMID:715439   PMID:2574561   PMID:2596825   PMID:6580258   PMID:6586634   PMID:7079734   PMID:7608178   PMID:7786017   PMID:9586999   PMID:10933798   PMID:11780052  
PMID:12063172   PMID:12069606   PMID:12369977   PMID:12477932   PMID:12590576   PMID:14702039   PMID:15161933   PMID:15241484   PMID:15489334   PMID:16344560   PMID:17081065   PMID:17097637  
PMID:17164794   PMID:17172447   PMID:17353931   PMID:17447732   PMID:17688412   PMID:17892301   PMID:18211827   PMID:18393535   PMID:18427977   PMID:18522500   PMID:18683034   PMID:18713839  
PMID:18769049   PMID:18978678   PMID:19048631   PMID:19056867   PMID:19135240   PMID:19161160   PMID:19619139   PMID:19683694   PMID:19913121   PMID:20308539   PMID:20360068   PMID:20391533  
PMID:20392501   PMID:20458337   PMID:20458436   PMID:20615890   PMID:20628086   PMID:20634891   PMID:21044950   PMID:21081666   PMID:21145461   PMID:21319273   PMID:21516116   PMID:21653829  
PMID:21873635   PMID:21988832   PMID:22023331   PMID:22190034   PMID:22268729   PMID:22304920   PMID:22323290   PMID:22863883   PMID:22939629   PMID:23079506   PMID:23376485   PMID:23533145  
PMID:24163370   PMID:24337577   PMID:24430301   PMID:24654937   PMID:24711643   PMID:24755837   PMID:24981860   PMID:24999758   PMID:25147182   PMID:25192599   PMID:25248746   PMID:25416956  
PMID:25437307   PMID:25609649   PMID:25910212   PMID:25921289   PMID:25959826   PMID:25963833   PMID:26186194   PMID:26344197   PMID:26527160   PMID:26618866   PMID:26638075   PMID:26687445  
PMID:26831064   PMID:27342126   PMID:27455993   PMID:27576135   PMID:27684187   PMID:28137758   PMID:28302793   PMID:28380382   PMID:28514442   PMID:28515276   PMID:28533090   PMID:28581483  
PMID:28647132   PMID:29128334   PMID:29149599   PMID:29229926   PMID:29395067   PMID:29467281   PMID:29467282   PMID:29758262   PMID:29772428   PMID:29791485   PMID:29845934   PMID:29955894  
PMID:30110629   PMID:30196744   PMID:30274258   PMID:30455355   PMID:30575818   PMID:30773093   PMID:30884312   PMID:30948266   PMID:31067453   PMID:31091453   PMID:31180492   PMID:31300519  
PMID:31324722   PMID:31409639   PMID:31436131   PMID:31501420   PMID:31515488   PMID:31594818   PMID:31995728   PMID:32020847   PMID:32041737   PMID:32144268   PMID:32296183   PMID:32492698  
PMID:32529326   PMID:32545848   PMID:32552912   PMID:32687490   PMID:32689861   PMID:32698014   PMID:32707033   PMID:32807901   PMID:32963011   PMID:33138824   PMID:33417871   PMID:33545068  
PMID:33753854   PMID:33762435   PMID:33915303   PMID:33916271   PMID:33961781   PMID:34189442   PMID:34265304   PMID:34326469   PMID:34349018   PMID:34373451   PMID:34551306   PMID:34591612  
PMID:34597346   PMID:34728620   PMID:34732716   PMID:34795231   PMID:34857952   PMID:34901782   PMID:35013218   PMID:35032548   PMID:35063084   PMID:35211260   PMID:35253629   PMID:35256949  
PMID:35271311   PMID:35384245   PMID:35446349   PMID:35509820   PMID:35546148   PMID:35562734   PMID:35676659   PMID:35831314   PMID:35914814   PMID:35944360   PMID:36057605   PMID:36114006  
PMID:36180891   PMID:36215168   PMID:36225252   PMID:36244648   PMID:36282215   PMID:36339263   PMID:36517590   PMID:36526897   PMID:36604567   PMID:36610398   PMID:36736316   PMID:37059091  
PMID:37223481   PMID:37536630   PMID:37580540   PMID:37689310   PMID:37774976   PMID:37827155   PMID:37866880   PMID:38003292   PMID:38064408   PMID:38113892   PMID:38172120   PMID:38496616  
PMID:38803224  


Genomics

Comparative Map Data
AHCY
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382034,231,981 - 34,311,836 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2034,280,268 - 34,311,802 (-)EnsemblGRCh38hg38GRCh38
GRCh372032,868,074 - 32,899,608 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362032,331,737 - 32,354,784 (-)NCBINCBI36Build 36hg18NCBI36
Build 342032,331,736 - 32,354,784NCBI
Celera2029,617,551 - 29,649,079 (-)NCBICelera
Cytogenetic Map20q11.22ENTREZGENE
HuRef2029,649,874 - 29,681,357 (-)NCBIHuRef
CHM1_12032,769,165 - 32,800,706 (-)NCBICHM1_1
T2T-CHM13v2.02035,953,425 - 36,034,942 (-)NCBIT2T-CHM13v2.0
Ahcy
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392154,901,230 - 154,916,417 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2154,901,230 - 154,916,417 (-)EnsemblGRCm39 Ensembl
GRCm382155,059,310 - 155,074,497 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2155,059,310 - 155,074,497 (-)EnsemblGRCm38mm10GRCm38
MGSCv372154,885,046 - 154,900,233 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362154,750,751 - 154,765,867 (-)NCBIMGSCv36mm8
Celera2160,986,232 - 161,001,420 (-)NCBICelera
Cytogenetic Map2H1NCBI
cM Map276.94NCBI
Ahcy
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83164,029,338 - 164,044,562 (-)NCBIGRCr8
mRatBN7.23143,569,134 - 143,584,359 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3143,569,094 - 143,584,393 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3147,436,772 - 147,451,996 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03156,054,058 - 156,069,282 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03153,793,593 - 153,808,817 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03150,587,833 - 150,603,057 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3150,587,833 - 150,603,082 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03156,957,240 - 156,972,464 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43145,544,834 - 145,560,058 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13145,450,455 - 145,465,680 (-)NCBI
Celera3142,299,485 - 142,314,709 (-)NCBICelera
Cytogenetic Map3q41NCBI
Ahcy
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542226,992,295 - 27,013,100 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542226,992,295 - 27,013,100 (+)NCBIChiLan1.0ChiLan1.0
AHCY
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22139,981,145 - 40,031,255 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12039,980,593 - 40,024,358 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02030,603,701 - 30,626,835 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12031,738,007 - 31,760,803 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2031,738,007 - 31,760,803 (-)Ensemblpanpan1.1panPan2
AHCY
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12423,410,553 - 23,423,494 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2423,411,140 - 23,419,767 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2423,058,324 - 23,071,803 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02424,101,284 - 24,114,771 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2424,100,998 - 24,114,735 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12423,389,987 - 23,403,460 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02423,484,066 - 23,497,508 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02423,923,430 - 23,937,131 (-)NCBIUU_Cfam_GSD_1.0
Ahcy
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640172,415,357 - 172,434,758 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365616,314,705 - 6,334,439 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365616,314,797 - 6,333,961 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AHCY
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1737,726,084 - 37,744,461 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11737,726,084 - 37,744,378 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21742,693,955 - 42,706,644 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap17q21NCBI
AHCY
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1238,579,254 - 38,601,218 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl238,579,024 - 38,601,208 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605088,256,407 - 88,278,319 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ahcy
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248425,053,280 - 5,072,679 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248425,053,336 - 5,071,902 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AHCY
267 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000687.4(AHCY):c.97A>G (p.Met33Val) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000557978] Chr20:34295517 [GRCh38]
Chr20:32883323 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.336G>A (p.Trp112Ter) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000013818] Chr20:34292467 [GRCh38]
Chr20:32880273 [GRCh37]
Chr20:20q11.22		 pathogenic
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000013819]|Inborn genetic diseases [RCV000624639]|Rhabdomyolysis [RCV000662292]|not provided [RCV000224240] Chr20:34292375 [GRCh38]
Chr20:32880181 [GRCh37]
Chr20:20q11.22		 pathogenic|likely pathogenic
GRCh38/hg38 20q11.22-13.11(chr20:34249453-43359749)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|See cases [RCV000053002] Chr20:34249453..43359749 [GRCh38]
Chr20:32837259..41988389 [GRCh37]
Chr20:32300920..41421803 [NCBI36]
Chr20:20q11.22-13.11		 pathogenic
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 copy number gain See cases [RCV000052999] Chr20:9811433..39316956 [GRCh38]
Chr20:9792081..37945599 [GRCh37]
Chr20:9740081..37379013 [NCBI36]
Chr20:20p12.2-q12		 pathogenic
NM_001161766.1(AHCY):c.114C>T (p.Thr38=) single nucleotide variant Malignant melanoma [RCV000072591] Chr20:34295416 [GRCh38]
Chr20:32883222 [GRCh37]
Chr20:32346883 [NCBI36]
Chr20:20q11.22		 not provided
NM_001161766.1(AHCY):c.135+32C>T single nucleotide variant Malignant melanoma [RCV000063718] Chr20:34295363 [GRCh38]
Chr20:32883169 [GRCh37]
Chr20:32346830 [NCBI36]
Chr20:20q11.22		 not provided
NM_000687.4(AHCY):c.1142T>C (p.Val381Ala) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001069004] Chr20:34285465 [GRCh38]
Chr20:32873271 [GRCh37]
Chr20:20q11.22		 uncertain significance
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1 copy number loss See cases [RCV000135440] Chr20:33432363..36821881 [GRCh38]
Chr20:32020169..35450284 [GRCh37]
Chr20:31483830..34883698 [NCBI36]
Chr20:20q11.21-11.23		 pathogenic
NM_000687.4(AHCY):c.-34C>T single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000554380]|not specified [RCV000202779] Chr20:34303304 [GRCh38]
Chr20:32891110 [GRCh37]
Chr20:20q11.22		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000687.4(AHCY):c.110A>T (p.Glu37Val) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000812554]|not specified [RCV000202818] Chr20:34295504 [GRCh38]
Chr20:32883310 [GRCh37]
Chr20:20q11.22		 uncertain significance
GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3 copy number gain See cases [RCV000141833] Chr20:32062768..35906606 [GRCh38]
Chr20:30650571..34494528 [GRCh37]
Chr20:30114232..33957942 [NCBI36]
Chr20:20q11.21-11.23		 pathogenic
NM_001672.3(ASIP):c.*25A>G single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR [RCV000009892] Chr20:34269192 [GRCh38]
Chr20:32856998 [GRCh37]
Chr20:20q11.22		 pathogenic|association
NC_000020.11:g.34251427C>A single nucleotide variant Lung cancer [RCV000101542] Chr20:34251427 [GRCh38]
Chr20:32839233 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.274A>G (p.Ile92Val) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001080974]|Inborn genetic diseases [RCV002516235]|not provided [RCV000224699] Chr20:34294102 [GRCh38]
Chr20:32881908 [GRCh37]
Chr20:20q11.22		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000687.4(AHCY):c.293C>T (p.Pro98Leu) single nucleotide variant Inborn genetic diseases [RCV001267457]|not provided [RCV000223995] Chr20:34294083 [GRCh38]
Chr20:32881889 [GRCh37]
Chr20:20q11.22		 pathogenic|likely pathogenic
NM_000687.4(AHCY):c.744C>T (p.Asn248=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000954190]|not provided [RCV003430860] Chr20:34290753 [GRCh38]
Chr20:32878559 [GRCh37]
Chr20:20q11.22		 benign|likely benign|uncertain significance
NM_000687.4(AHCY):c.973-7C>T single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000543151]|not provided [RCV001660706] Chr20:34285641 [GRCh38]
Chr20:32873447 [GRCh37]
Chr20:20q11.22		 benign
NM_000687.4(AHCY):c.918C>T (p.Ile306=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000309210] Chr20:34290386 [GRCh38]
Chr20:32878192 [GRCh37]
Chr20:20q11.22		 conflicting interpretations of pathogenicity|uncertain significance
NM_000687.4(AHCY):c.855-8C>T single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000363924] Chr20:34290457 [GRCh38]
Chr20:32878263 [GRCh37]
Chr20:20q11.22		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000687.4(AHCY):c.559-13C>G single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000275374] Chr20:34290951 [GRCh38]
Chr20:32878757 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.29-4G>A single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000372515] Chr20:34295589 [GRCh38]
Chr20:32883395 [GRCh37]
Chr20:20q11.22		 conflicting interpretations of pathogenicity|uncertain significance
NM_000687.4(AHCY):c.219+7C>G single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000955840] Chr20:34295388 [GRCh38]
Chr20:32883194 [GRCh37]
Chr20:20q11.22		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000687.4(AHCY):c.219+8C>T single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000375966] Chr20:34295387 [GRCh38]
Chr20:32883193 [GRCh37]
Chr20:20q11.22		 conflicting interpretations of pathogenicity|uncertain significance
NM_000687.4(AHCY):c.28+7C>T single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000539487]|not provided [RCV003430861] Chr20:34303236 [GRCh38]
Chr20:32891042 [GRCh37]
Chr20:20q11.22		 benign|likely benign|uncertain significance
NM_000687.4(AHCY):c.445+11C>T single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000330506] Chr20:34292347 [GRCh38]
Chr20:32880153 [GRCh37]
Chr20:20q11.22		 conflicting interpretations of pathogenicity|uncertain significance
NM_000687.4(AHCY):c.663T>C (p.Tyr221=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000966427] Chr20:34290834 [GRCh38]
Chr20:32878640 [GRCh37]
Chr20:20q11.22		 benign|likely benign|uncertain significance
NM_000687.4(AHCY):c.-50A>C single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000341284] Chr20:34303320 [GRCh38]
Chr20:32891126 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.*679A>T single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000393770] Chr20:34280355 [GRCh38]
Chr20:32868161 [GRCh37]
Chr20:20q11.22		 benign
NM_000687.4(AHCY):c.*678C>T single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000298341] Chr20:34280356 [GRCh38]
Chr20:32868162 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.*301T>G single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000403519] Chr20:34280733 [GRCh38]
Chr20:32868539 [GRCh37]
Chr20:20q11.22		 benign|likely benign
NM_000687.4(AHCY):c.61G>A (p.Ala21Thr) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000317883]|not provided [RCV004694600] Chr20:34295553 [GRCh38]
Chr20:32883359 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.578A>G (p.Tyr193Cys) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000388599] Chr20:34290919 [GRCh38]
Chr20:32878725 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.3(AHCY):c.-124C>A single nucleotide variant Hypermethioninemia [RCV000348058]|Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001548859]|not provided [RCV001660707] Chr20:34303394 [GRCh38]
Chr20:32891200 [GRCh37]
Chr20:20q11.22		 benign
NM_000687.4(AHCY):c.-63A>G single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000407704] Chr20:34303333 [GRCh38]
Chr20:32891139 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.1188A>T (p.Glu396Asp) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000303548] Chr20:34281145 [GRCh38]
Chr20:32868951 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.3(AHCY):c.-107G>A single nucleotide variant Hypermethioninemia [RCV000283737] Chr20:34303377 [GRCh38]
Chr20:32891183 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.1170G>A (p.Leu390=) single nucleotide variant Hypermethioninemia [RCV000358309] Chr20:34281163 [GRCh38]
Chr20:32868969 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.*621T>C single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000343200] Chr20:34280413 [GRCh38]
Chr20:32868219 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.266C>T (p.Ala89Val) single nucleotide variant Inborn genetic diseases [RCV000622679]|Rhabdomyolysis [RCV000662291] Chr20:34294110 [GRCh38]
Chr20:32881916 [GRCh37]
Chr20:20q11.22		 likely pathogenic|uncertain significance
NM_000687.4(AHCY):c.382A>T (p.Ile128Phe) single nucleotide variant not provided [RCV000521474] Chr20:34292421 [GRCh38]
Chr20:32880227 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.1025G>T (p.Gly342Val) single nucleotide variant not provided [RCV000435992] Chr20:34285582 [GRCh38]
Chr20:32873388 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.639C>T (p.Gly213=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV003525902]|not provided [RCV000429246] Chr20:34290858 [GRCh38]
Chr20:32878664 [GRCh37]
Chr20:20q11.22		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000687.4(AHCY):c.1273T>G (p.Phe425Val) single nucleotide variant not provided [RCV000522952] Chr20:34281060 [GRCh38]
Chr20:32868866 [GRCh37]
Chr20:20q11.22		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20q11.22(chr20:32815819-33046013)x4 copy number gain See cases [RCV000510835] Chr20:32815819..33046013 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.112C>T (p.Arg38Trp) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000529181] Chr20:34295502 [GRCh38]
Chr20:32883308 [GRCh37]
Chr20:20q11.22		 benign|likely benign
NM_000687.4(AHCY):c.1045T>A (p.Cys349Ser) single nucleotide variant Inborn genetic diseases [RCV003293792] Chr20:34285562 [GRCh38]
Chr20:32873368 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.767-37C>G single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000532787]|not provided [RCV001683578] Chr20:34290675 [GRCh38]
Chr20:32878481 [GRCh37]
Chr20:20q11.22		 benign
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_000687.4(AHCY):c.367G>A (p.Gly123Arg) single nucleotide variant AHCY-related disorder [RCV003918056]|Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000648703]|Inborn genetic diseases [RCV002533358] Chr20:34292436 [GRCh38]
Chr20:32880242 [GRCh37]
Chr20:20q11.22		 likely benign
GRCh37/hg19 20q11.22(chr20:32436483-33276757)x3 copy number gain not provided [RCV000684124] Chr20:32436483..33276757 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.468G>C (p.Glu156Asp) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000685707] Chr20:34291509 [GRCh38]
Chr20:32879315 [GRCh37]
Chr20:20q11.22		 uncertain significance
NC_000020.10:g.(?_31996293)_(33761838_?)del deletion Long QT syndrome [RCV000708204] Chr20:31996293..33761838 [GRCh37]
Chr20:20q11.21-11.22		 uncertain significance
NC_000020.10:g.(?_31996293)_(33338342_?)del deletion Long QT syndrome [RCV000708495] Chr20:31996293..33338342 [GRCh37]
Chr20:20q11.21-11.22		 uncertain significance
NM_000687.4(AHCY):c.28+1345G>A single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001548858] Chr20:34301898 [GRCh38]
Chr20:32889704 [GRCh37]
Chr20:20q11.22		 benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_000687.4(AHCY):c.29-5C>T single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002539460]|Inborn genetic diseases [RCV002539461] Chr20:34295590 [GRCh38]
Chr20:32883396 [GRCh37]
Chr20:20q11.22		 likely benign|uncertain significance
NM_000687.4(AHCY):c.390C>T (p.Asp130=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000970537] Chr20:34292413 [GRCh38]
Chr20:32880219 [GRCh37]
Chr20:20q11.22		 likely benign|conflicting interpretations of pathogenicity
NM_000687.4(AHCY):c.979C>T (p.Arg327Trp) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001058531] Chr20:34285628 [GRCh38]
Chr20:32873434 [GRCh37]
Chr20:20q11.22		 uncertain significance
GRCh37/hg19 20q11.22(chr20:32854720-32914371)x3 copy number gain Intellectual disability [RCV000787292] Chr20:32854720..32914371 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.766+2T>G single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000778629] Chr20:34290729 [GRCh38]
Chr20:32878535 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.257A>G (p.Asp86Gly) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000778630]|Inborn genetic diseases [RCV001266439] Chr20:34294119 [GRCh38]
Chr20:32881925 [GRCh37]
Chr20:20q11.22		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000687.4(AHCY):c.1008C>T (p.Ile336=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000970545] Chr20:34285599 [GRCh38]
Chr20:32873405 [GRCh37]
Chr20:20q11.22		 likely benign|conflicting interpretations of pathogenicity
NM_000687.4(AHCY):c.882C>G (p.Ala294=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000917422] Chr20:34290422 [GRCh38]
Chr20:32878228 [GRCh37]
Chr20:20q11.22		 likely benign|conflicting interpretations of pathogenicity
NM_000687.4(AHCY):c.966G>A (p.Lys322=) single nucleotide variant not provided [RCV000930909] Chr20:34290338 [GRCh38]
Chr20:32878144 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.1015C>T (p.Leu339=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV003525982] Chr20:34285592 [GRCh38]
Chr20:32873398 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.393C>T (p.Asp131=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001402891] Chr20:34292410 [GRCh38]
Chr20:32880216 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.831C>G (p.Gly277=) single nucleotide variant not provided [RCV000927051] Chr20:34290574 [GRCh38]
Chr20:32878380 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.1003C>T (p.Arg335Cys) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002539410] Chr20:34285604 [GRCh38]
Chr20:32873410 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.1000C>T (p.Arg334Cys) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000809173]|not provided [RCV001655603] Chr20:34285607 [GRCh38]
Chr20:32873413 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.72T>C (p.Ile24=) single nucleotide variant not provided [RCV000918432] Chr20:34295542 [GRCh38]
Chr20:32883348 [GRCh37]
Chr20:20q11.22		 likely benign
GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3 copy number gain not provided [RCV000849735] Chr20:29833608..35087952 [GRCh37]
Chr20:20q11.21-11.23		 pathogenic
NM_000687.4(AHCY):c.100C>T (p.Arg34Cys) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001876268]|Inborn genetic diseases [RCV002560199]|not specified [RCV001195413] Chr20:34295514 [GRCh38]
Chr20:32883320 [GRCh37]
Chr20:20q11.22		 likely benign|uncertain significance
NM_000687.4(AHCY):c.685G>A (p.Ala229Thr) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001230537] Chr20:34290812 [GRCh38]
Chr20:32878618 [GRCh37]
Chr20:20q11.22		 uncertain significance
NC_000020.10:g.(?_32891029)_(32891076_?)dup duplication Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV003105281] Chr20:32891029..32891076 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.141C>T (p.Gly47=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV003106387] Chr20:34295473 [GRCh38]
Chr20:32883279 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.1168-64C>G single nucleotide variant not provided [RCV001684050] Chr20:34281229 [GRCh38]
Chr20:32869035 [GRCh37]
Chr20:20q11.22		 benign
NM_000687.4(AHCY):c.945C>T (p.Ala315=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002539438] Chr20:34290359 [GRCh38]
Chr20:32878165 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.853C>T (p.Arg285Trp) single nucleotide variant AHCY-related disorder [RCV003955940]|Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000887948] Chr20:34290552 [GRCh38]
Chr20:32878358 [GRCh37]
Chr20:20q11.22		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000687.4(AHCY):c.942C>T (p.Asn314=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000909975] Chr20:34290362 [GRCh38]
Chr20:32878168 [GRCh37]
Chr20:20q11.22		 likely benign
NM_001672.3(ASIP):c.264C>A (p.Pro88=) single nucleotide variant not provided [RCV000955225] Chr20:34269032 [GRCh38]
Chr20:32856838 [GRCh37]
Chr20:20q11.22		 benign
NM_000687.4(AHCY):c.18C>T (p.Pro6=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001464457] Chr20:34303253 [GRCh38]
Chr20:32891059 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.1062C>T (p.Pro354=) single nucleotide variant not provided [RCV000931389] Chr20:34285545 [GRCh38]
Chr20:32873351 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.767-8_767-7del microsatellite Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV000887803] Chr20:34290645..34290646 [GRCh38]
Chr20:32878451..32878452 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.-40C>T single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001140271] Chr20:34303310 [GRCh38]
Chr20:32891116 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.1167+15C>A single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001143814] Chr20:34285425 [GRCh38]
Chr20:32873231 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.1019C>G (p.Ala340Gly) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001143815] Chr20:34285588 [GRCh38]
Chr20:32873394 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.973-154G>A single nucleotide variant not provided [RCV001637420] Chr20:34285788 [GRCh38]
Chr20:32873594 [GRCh37]
Chr20:20q11.22		 benign
NM_000687.4(AHCY):c.662A>G (p.Tyr221Cys) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV003106615] Chr20:34290835 [GRCh38]
Chr20:32878641 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.446-147C>T single nucleotide variant not provided [RCV001616127] Chr20:34291678 [GRCh38]
Chr20:32879484 [GRCh37]
Chr20:20q11.22		 benign
NM_000687.4(AHCY):c.*417A>T single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001143811] Chr20:34280617 [GRCh38]
Chr20:32868423 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.*181C>T single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001143812]|not provided [RCV004694887] Chr20:34280853 [GRCh38]
Chr20:32868659 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.*112G>A single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001143813] Chr20:34280922 [GRCh38]
Chr20:32868728 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.241A>G (p.Ile81Val) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001139505] Chr20:34294135 [GRCh38]
Chr20:32881941 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.985C>T (p.Arg329Trp) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001050147] Chr20:34285622 [GRCh38]
Chr20:32873428 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.104T>C (p.Met35Thr) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001204728] Chr20:34295510 [GRCh38]
Chr20:32883316 [GRCh37]
Chr20:20q11.22		 uncertain significance
GRCh37/hg19 20q11.21-11.22(chr20:31966407-33169058)x3 copy number gain not provided [RCV001007091] Chr20:31966407..33169058 [GRCh37]
Chr20:20q11.21-11.22		 uncertain significance
NM_000687.4(AHCY):c.936C>T (p.Asn312=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001137251] Chr20:34290368 [GRCh38]
Chr20:32878174 [GRCh37]
Chr20:20q11.22		 conflicting interpretations of pathogenicity|uncertain significance
NM_000687.4(AHCY):c.698G>A (p.Arg233Gln) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001207774] Chr20:34290799 [GRCh38]
Chr20:32878605 [GRCh37]
Chr20:20q11.22		 uncertain significance
NC_000020.11:g.(?_34281014)_(34325729_?)dup duplication Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001033076] Chr20:32868820..32913535 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.*583G>C single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001141996] Chr20:34280451 [GRCh38]
Chr20:32868257 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.*427T>C single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001141997] Chr20:34280607 [GRCh38]
Chr20:32868413 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.145C>T (p.Arg49Cys) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001813819]|Inborn genetic diseases [RCV001266438] Chr20:34295469 [GRCh38]
Chr20:32883275 [GRCh37]
Chr20:20q11.22		 pathogenic|likely pathogenic
NM_000687.4(AHCY):c.473C>T (p.Thr158Met) single nucleotide variant Inborn genetic diseases [RCV001267458] Chr20:34291504 [GRCh38]
Chr20:32879310 [GRCh37]
Chr20:20q11.22		 likely pathogenic
NC_000020.10:g.(?_31996293)_(33761838_?)del deletion Long QT syndrome [RCV001300227] Chr20:31996293..33761838 [GRCh37]
Chr20:20q11.21-11.22		 uncertain significance
NM_000687.4(AHCY):c.546C>T (p.Asp182=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001421350] Chr20:34291431 [GRCh38]
Chr20:32879237 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.1001G>A (p.Arg334His) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001349866] Chr20:34285606 [GRCh38]
Chr20:32873412 [GRCh37]
Chr20:20q11.22		 uncertain significance
NC_000020.10:g.(?_32868820)_(32913535_?)dup duplication Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency [RCV001322408] Chr20:32868820..32913535 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.1228A>T (p.Thr410Ser) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001341114]|Inborn genetic diseases [RCV002546923] Chr20:34281105 [GRCh38]
Chr20:32868911 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.981G>A (p.Arg327=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001405360] Chr20:34285626 [GRCh38]
Chr20:32873432 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.973-179C>T single nucleotide variant not provided [RCV001612621] Chr20:34285813 [GRCh38]
Chr20:32873619 [GRCh37]
Chr20:20q11.22		 benign
NM_000687.4(AHCY):c.972+143C>T single nucleotide variant not provided [RCV001654044] Chr20:34290189 [GRCh38]
Chr20:32877995 [GRCh37]
Chr20:20q11.22		 benign
NM_000687.4(AHCY):c.471C>T (p.Thr157=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001481346] Chr20:34291506 [GRCh38]
Chr20:32879312 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.636C>T (p.Ala212=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001482904] Chr20:34290861 [GRCh38]
Chr20:32878667 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.29-16C>T single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001478145] Chr20:34295601 [GRCh38]
Chr20:32883407 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.1168-14T>C single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001520032] Chr20:34281179 [GRCh38]
Chr20:32868985 [GRCh37]
Chr20:20q11.22		 benign
NM_000687.4(AHCY):c.982T>G (p.Tyr328Asp) single nucleotide variant not provided [RCV001756745] Chr20:34285625 [GRCh38]
Chr20:32873431 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.139G>A (p.Gly47Ser) single nucleotide variant not provided [RCV001774040] Chr20:34295475 [GRCh38]
Chr20:32883281 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.688C>T (p.Gln230Ter) single nucleotide variant not provided [RCV001765909] Chr20:34290809 [GRCh38]
Chr20:32878615 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.739A>G (p.Ile247Val) single nucleotide variant not provided [RCV001814807] Chr20:34290758 [GRCh38]
Chr20:32878564 [GRCh37]
Chr20:20q11.22		 uncertain significance
GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550) copy number gain not specified [RCV002052709] Chr20:25442597..33761550 [GRCh37]
Chr20:20p11.21-q11.22		 pathogenic
NM_000687.4(AHCY):c.802G>A (p.Glu268Lys) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002008460] Chr20:34290603 [GRCh38]
Chr20:32878409 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.808A>G (p.Asn270Asp) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001911356] Chr20:34290597 [GRCh38]
Chr20:32878403 [GRCh37]
Chr20:20q11.22		 uncertain significance
GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3 copy number gain not provided [RCV001829151] Chr20:18665879..33903216 [GRCh37]
Chr20:20p11.23-q11.22		 likely pathogenic
NM_000687.4(AHCY):c.586C>T (p.Arg196Trp) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002004695] Chr20:34290911 [GRCh38]
Chr20:32878717 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.1190C>T (p.Ala397Val) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002036111]|Inborn genetic diseases [RCV004044776] Chr20:34281143 [GRCh38]
Chr20:32868949 [GRCh37]
Chr20:20q11.22		 uncertain significance
NC_000020.10:g.(?_31189994)_(34287210_?)del deletion not provided [RCV001956104] Chr20:31189994..34287210 [GRCh37]
Chr20:20q11.21-11.22		 pathogenic
NM_000687.4(AHCY):c.875A>G (p.Asp292Gly) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001957926] Chr20:34290429 [GRCh38]
Chr20:32878235 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.718A>G (p.Ile240Val) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001877047] Chr20:34290779 [GRCh38]
Chr20:32878585 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.317C>T (p.Thr106Met) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001907026] Chr20:34292486 [GRCh38]
Chr20:32880292 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.1009A>G (p.Ile337Val) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001917369]|Inborn genetic diseases [RCV002554140] Chr20:34285598 [GRCh38]
Chr20:32873404 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.769T>C (p.Tyr257His) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001905684]|Inborn genetic diseases [RCV002552938] Chr20:34290636 [GRCh38]
Chr20:32878442 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.366C>G (p.Asp122Glu) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV001902651] Chr20:34292437 [GRCh38]
Chr20:32880243 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.309G>A (p.Lys103=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002207904] Chr20:34292494 [GRCh38]
Chr20:32880300 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.219+18A>G single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002189413] Chr20:34295377 [GRCh38]
Chr20:32883183 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.558+13G>T single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002107436] Chr20:34291406 [GRCh38]
Chr20:32879212 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.321C>T (p.Asp107=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002086940] Chr20:34292482 [GRCh38]
Chr20:32880288 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.1168-16C>T single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002212702] Chr20:34281181 [GRCh38]
Chr20:32868987 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.854+19dup duplication Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002156098] Chr20:34290531..34290532 [GRCh38]
Chr20:32878337..32878338 [GRCh37]
Chr20:20q11.22		 benign
NM_000687.4(AHCY):c.1168-9T>C single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002176142] Chr20:34281174 [GRCh38]
Chr20:32868980 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.836T>A (p.Ile279Asn) single nucleotide variant See cases [RCV002252431] Chr20:34290569 [GRCh38]
Chr20:32878375 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.1236G>A (p.Lys412=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002180005] Chr20:34281097 [GRCh38]
Chr20:32868903 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.1167+14_1167+16del microsatellite Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002138695] Chr20:34285424..34285426 [GRCh38]
Chr20:32873230..32873232 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.1296C>G (p.Tyr432Ter) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV003117041] Chr20:34281037 [GRCh38]
Chr20:32868843 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.1104G>A (p.Ala368=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV003112740] Chr20:34285503 [GRCh38]
Chr20:32873309 [GRCh37]
Chr20:20q11.22		 likely benign
NC_000020.10:g.(?_32868840)_(33033286_?)dup duplication Syndromic multisystem autoimmune disease due to ITCH deficiency [RCV003122816] Chr20:32868840..33033286 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.1280C>T (p.Pro427Leu) single nucleotide variant Inborn genetic diseases [RCV003308084]|not provided [RCV002267537] Chr20:34281053 [GRCh38]
Chr20:32868859 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.115_121del (p.Tyr39fs) deletion not provided [RCV002293642] Chr20:34295493..34295499 [GRCh38]
Chr20:32883299..32883305 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.172G>T (p.Val58Leu) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002296876] Chr20:34295442 [GRCh38]
Chr20:32883248 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.526C>T (p.Pro176Ser) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002297453] Chr20:34291451 [GRCh38]
Chr20:32879257 [GRCh37]
Chr20:20q11.22		 uncertain significance
GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3 copy number gain not provided [RCV002474532] Chr20:29833535..34815537 [GRCh37]
Chr20:20q11.21-11.23		 likely pathogenic
NM_000687.4(AHCY):c.82G>A (p.Glu28Lys) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002301129] Chr20:34295532 [GRCh38]
Chr20:32883338 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.659G>T (p.Gly220Val) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002295604] Chr20:34290838 [GRCh38]
Chr20:32878644 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.793G>A (p.Ala265Thr) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV003015466] Chr20:34290612 [GRCh38]
Chr20:32878418 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.705C>T (p.Phe235=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV003074598] Chr20:34290792 [GRCh38]
Chr20:32878598 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.714C>T (p.Arg238=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002794844]|not provided [RCV003435825] Chr20:34290783 [GRCh38]
Chr20:32878589 [GRCh37]
Chr20:20q11.22		 likely benign
NM_001672.3(ASIP):c.124G>T (p.Val42Leu) single nucleotide variant not specified [RCV004101603] Chr20:34260498 [GRCh38]
Chr20:32848304 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.1261T>C (p.Cys421Arg) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002947834] Chr20:34281072 [GRCh38]
Chr20:32868878 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.1223A>T (p.Lys408Met) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV003017699] Chr20:34281110 [GRCh38]
Chr20:32868916 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.614G>A (p.Arg205Gln) single nucleotide variant Inborn genetic diseases [RCV002733485] Chr20:34290883 [GRCh38]
Chr20:32878689 [GRCh37]
Chr20:20q11.22		 uncertain significance
GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3 copy number gain not provided [RCV002475651] Chr20:29652122..35603726 [GRCh37]
Chr20:20q11.21-11.23		 likely pathogenic
NM_000687.4(AHCY):c.549C>T (p.Ser183=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV003077047] Chr20:34291428 [GRCh38]
Chr20:32879234 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.910G>T (p.Val304Leu) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002750680] Chr20:34290394 [GRCh38]
Chr20:32878200 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_001672.3(ASIP):c.134T>C (p.Leu45Pro) single nucleotide variant not specified [RCV004208409] Chr20:34260508 [GRCh38]
Chr20:32848314 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.184G>A (p.Val62Ile) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002993864]|Inborn genetic diseases [RCV003250685] Chr20:34295430 [GRCh38]
Chr20:32883236 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.943G>T (p.Ala315Ser) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002991545] Chr20:34290361 [GRCh38]
Chr20:32878167 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.910G>A (p.Val304Met) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002972174] Chr20:34290394 [GRCh38]
Chr20:32878200 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.120G>A (p.Ser40=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002618059] Chr20:34295494 [GRCh38]
Chr20:32883300 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.1103C>T (p.Ala368Val) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002755521] Chr20:34285504 [GRCh38]
Chr20:32873310 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.559-13_559-12dup duplication Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002730233] Chr20:34290949..34290950 [GRCh38]
Chr20:32878755..32878756 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.854G>A (p.Arg285Gln) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002908293] Chr20:34290551 [GRCh38]
Chr20:32878357 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.943G>A (p.Ala315Thr) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002751425] Chr20:34290361 [GRCh38]
Chr20:32878167 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.67G>C (p.Asp23His) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002756417] Chr20:34295547 [GRCh38]
Chr20:32883353 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.335G>T (p.Trp112Leu) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002819046] Chr20:34292468 [GRCh38]
Chr20:32880274 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.394G>A (p.Gly132Arg) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV003081616] Chr20:34292409 [GRCh38]
Chr20:32880215 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.446-17T>C single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002761223] Chr20:34291548 [GRCh38]
Chr20:32879354 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.1168-5C>T single nucleotide variant Inborn genetic diseases [RCV002707984] Chr20:34281170 [GRCh38]
Chr20:32868976 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.987G>A (p.Arg329=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002735767] Chr20:34285620 [GRCh38]
Chr20:32873426 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.1210G>A (p.Val404Met) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002975824] Chr20:34281123 [GRCh38]
Chr20:32868929 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.264G>A (p.Ala88=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002998805] Chr20:34294112 [GRCh38]
Chr20:32881918 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.443C>T (p.Pro148Leu) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002949486] Chr20:34292360 [GRCh38]
Chr20:32880166 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.63C>T (p.Ala21=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV003053166] Chr20:34295551 [GRCh38]
Chr20:32883357 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.706G>A (p.Gly236Arg) single nucleotide variant Inborn genetic diseases [RCV002845731] Chr20:34290791 [GRCh38]
Chr20:32878597 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.731T>C (p.Ile244Thr) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002622696] Chr20:34290766 [GRCh38]
Chr20:32878572 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.318G>A (p.Thr106=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002886276] Chr20:34292485 [GRCh38]
Chr20:32880291 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.1140C>T (p.Pro380=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV003079483] Chr20:34285467 [GRCh38]
Chr20:32873273 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.1223A>G (p.Lys408Arg) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002979380] Chr20:34281110 [GRCh38]
Chr20:32868916 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.980G>A (p.Arg327Gln) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002590831] Chr20:34285627 [GRCh38]
Chr20:32873433 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.29-15T>C single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002591977] Chr20:34295600 [GRCh38]
Chr20:32883406 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.142G>A (p.Ala48Thr) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV003336813]|Inborn genetic diseases [RCV002757342] Chr20:34295472 [GRCh38]
Chr20:32883278 [GRCh37]
Chr20:20q11.22		 likely pathogenic|uncertain significance
NM_000687.4(AHCY):c.883A>G (p.Ile295Val) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002999702] Chr20:34290421 [GRCh38]
Chr20:32878227 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.90G>C (p.Pro30=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV003002251] Chr20:34295524 [GRCh38]
Chr20:32883330 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.841A>G (p.Ile281Val) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002847317] Chr20:34290564 [GRCh38]
Chr20:32878370 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_000687.4(AHCY):c.963C>A (p.Ile321=) single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002761204] Chr20:34290341 [GRCh38]
Chr20:32878147 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.882del (p.Ile295fs) deletion Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002829264] Chr20:34290422 [GRCh38]
Chr20:32878228 [GRCh37]
Chr20:20q11.22		 pathogenic
NM_000687.4(AHCY):c.28+14C>T single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002645763] Chr20:34303229 [GRCh38]
Chr20:32891035 [GRCh37]
Chr20:20q11.22		 likely benign
NM_000687.4(AHCY):c.295+11C>T single nucleotide variant Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [RCV002700814] Chr20:34294070 [GRCh38]
Chr20:32881876 [GRCh37]
Chr20:20q11.22		 likely benign
NM_00068