VAMP1 (vesicle associated membrane protein 1) - Rat Genome Database

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Gene: VAMP1 (vesicle associated membrane protein 1) Homo sapiens
Analyze
Symbol: VAMP1
Name: vesicle associated membrane protein 1
RGD ID: 736120
HGNC Page HGNC:12642
Description: Predicted to enable SNAP receptor activity and syntaxin binding activity. Predicted to be involved in SNARE complex assembly; regulation of synaptic vesicle fusion to presynaptic active zone membrane; and synaptic vesicle priming. Located in specific granule membrane and tertiary granule membrane. Implicated in congenital myasthenic syndrome and spastic ataxia 1.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CMS25; DKFZp686H12131; SAX1; spastic ataxia 1 (autosomal dominant); spastic ataxia 1 (dominant); SPAX1; SYB1; synaptobrevin 1; synaptobrevin-1; VAMP-1; vesicle-associated membrane protein 1; vesicle-associated membrane protein 1 (synaptobrevin 1)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38126,462,237 - 6,470,677 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl126,462,237 - 6,470,677 (-)EnsemblGRCh38hg38GRCh38
GRCh37126,571,403 - 6,579,843 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36126,441,664 - 6,450,104 (-)NCBINCBI36Build 36hg18NCBI36
Build 34126,441,666 - 6,450,104NCBI
Celera128,188,292 - 8,196,732 (-)NCBICelera
Cytogenetic Map12p13.31NCBI
HuRef126,425,592 - 6,434,004 (-)NCBIHuRef
CHM1_1126,570,277 - 6,578,717 (-)NCBICHM1_1
T2T-CHM13v2.0126,472,621 - 6,481,015 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(2,4,5-trichlorophenoxy)acetic acid  (ISO)
1,2-dichloroethane  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-methylcholine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
6-propyl-2-thiouracil  (ISO)
acetylsalicylic acid  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucosamine  (ISO)
aldrin  (ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
beta-D-glucosamine  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (ISO)
chloroethene  (ISO)
choline  (ISO)
cisplatin  (EXP)
clozapine  (ISO)
copper(II) sulfate  (ISO)
coumarin  (EXP)
Cuprizon  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dorsomorphin  (EXP)
ethanol  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
gamma-tocopherol  (ISO)
gentamycin  (ISO)
haloperidol  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
leflunomide  (EXP)
lipopolysaccharide  (EXP)
MeIQx  (EXP)
methimazole  (ISO)
methylisothiazolinone  (EXP)
nickel sulfate  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
phenylmercury acetate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
tert-butyl hydroperoxide  (EXP)
tocopherol  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (EXP)
venlafaxine hydrochloride  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebrospinal fluid morphology  (IAGP)
Abnormal eyelid morphology  (IAGP)
Abnormality of eye movement  (IAGP)
Anti-acetylcholine receptor antibody positivity  (IAGP)
Apneic episodes precipitated by illness, fatigue, stress  (IAGP)
Areflexia  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Bulbar palsy  (IAGP)
Central sleep apnea  (IAGP)
Choking episodes  (IAGP)
Congenital hip dislocation  (IAGP)
Cyanosis  (IAGP)
Decreased compound muscle action potential amplitude  (IAGP)
Decreased fetal movement  (IAGP)
Delayed ability to sit  (IAGP)
Difficulty walking  (IAGP)
Diplopia  (IAGP)
Distal amyotrophy  (IAGP)
Distal lower limb muscle weakness  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Dysphonia  (IAGP)
Dystonia  (IAGP)
Easy fatigability  (IAGP)
EEG with polyspike wave complexes  (IAGP)
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation  (IAGP)
EMG: impaired neuromuscular transmission  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Episodic respiratory distress  (IAGP)
Esotropia  (IAGP)
Fatigable weakness  (IAGP)
Feeding difficulties  (IAGP)
Flexion contracture  (IAGP)
Frontalis muscle weakness  (IAGP)
Gait disturbance  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized amyotrophy  (IAGP)
Generalized muscle weakness  (IAGP)
High palate  (IAGP)
Hypernasal speech  (IAGP)
Hyperreflexia  (IAGP)
Hypertonia  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Impaired proprioception  (IAGP)
Impaired vibration sensation in the lower limbs  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intermittent episodes of respiratory insufficiency due to muscle weakness  (IAGP)
Jerky head movements  (IAGP)
Joint hypermobility  (IAGP)
Juvenile onset  (IAGP)
Kyphoscoliosis  (IAGP)
Kyphosis  (IAGP)
Leg muscle stiffness  (IAGP)
Limb ataxia  (IAGP)
Limb-girdle muscle weakness  (IAGP)
Limited extraocular movements  (IAGP)
Long face  (IAGP)
Low-set ears  (IAGP)
Lower limb spasticity  (IAGP)
Memory impairment  (IAGP)
Microretrognathia  (IAGP)
Motor delay  (IAGP)
Motor polyneuropathy  (IAGP)
Muscle fiber atrophy  (IAGP)
Myopathic facies  (IAGP)
Myopathy  (IAGP)
Narrow jaw  (IAGP)
Nasal regurgitation  (IAGP)
Neck muscle weakness  (IAGP)
Neonatal onset  (IAGP)
Neuropathic spinal arthropathy  (IAGP)
Nystagmus  (IAGP)
Obstructive sleep apnea  (IAGP)
Ophthalmoplegia  (IAGP)
Pectus carinatum  (IAGP)
Pes cavus  (IAGP)
Polyhydramnios  (IAGP)
Poor head control  (IAGP)
Poor suck  (IAGP)
Proximal muscle weakness  (IAGP)
Ptosis  (IAGP)
Recurrent respiratory infections  (IAGP)
Respiratory arrest  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe muscular hypotonia  (IAGP)
Slow saccadic eye movements  (IAGP)
Spastic ataxia  (IAGP)
Spastic dysarthria  (IAGP)
Spastic gait  (IAGP)
Spastic paraplegia  (IAGP)
Spinal rigidity  (IAGP)
Staring gaze  (IAGP)
Strabismus  (IAGP)
Stridor  (IAGP)
Sudden episodic apnea  (IAGP)
Supranuclear gaze palsy  (IAGP)
Tip-toe gait  (IAGP)
Tremor  (IAGP)
Waddling gait  (IAGP)
Weak cry  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1976629   PMID:8663154   PMID:8760387   PMID:9396746   PMID:9657962   PMID:9658161   PMID:9920726   PMID:10544008   PMID:11391393   PMID:11774073   PMID:12093152   PMID:12477932  
PMID:12878157   PMID:16341674   PMID:17255364   PMID:17903296   PMID:18457912   PMID:20301317   PMID:20877624   PMID:21330375   PMID:21873635   PMID:22289120   PMID:22958904   PMID:24152687  
PMID:24534378   PMID:24623722   PMID:25010769   PMID:25416956   PMID:25881291   PMID:26760575   PMID:27229929   PMID:28253535   PMID:28986522   PMID:29997244   PMID:30021884   PMID:32296183  
PMID:32393512   PMID:33631708   PMID:34349018   PMID:34454100   PMID:36949045   PMID:38355957  


Genomics

Comparative Map Data
VAMP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38126,462,237 - 6,470,677 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl126,462,237 - 6,470,677 (-)EnsemblGRCh38hg38GRCh38
GRCh37126,571,403 - 6,579,843 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36126,441,664 - 6,450,104 (-)NCBINCBI36Build 36hg18NCBI36
Build 34126,441,666 - 6,450,104NCBI
Celera128,188,292 - 8,196,732 (-)NCBICelera
Cytogenetic Map12p13.31NCBI
HuRef126,425,592 - 6,434,004 (-)NCBIHuRef
CHM1_1126,570,277 - 6,578,717 (-)NCBICHM1_1
T2T-CHM13v2.0126,472,621 - 6,481,015 (-)NCBIT2T-CHM13v2.0
Vamp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396125,192,544 - 125,199,269 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6125,192,514 - 125,222,927 (+)EnsemblGRCm39 Ensembl
GRCm386125,215,581 - 125,222,306 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6125,215,551 - 125,245,964 (+)EnsemblGRCm38mm10GRCm38
MGSCv376125,165,599 - 125,172,324 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366125,181,200 - 125,187,922 (+)NCBIMGSCv36mm8
Celera6126,885,383 - 126,892,110 (+)NCBICelera
Cytogenetic Map6F3NCBI
cM Map659.32NCBI
Vamp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84159,698,894 - 159,705,582 (+)NCBIGRCr8
mRatBN7.24158,012,634 - 158,019,350 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4158,012,663 - 158,019,349 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4164,241,975 - 164,248,577 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04160,024,891 - 160,031,493 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04158,660,913 - 158,667,515 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04157,726,941 - 157,733,644 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4157,726,941 - 157,733,643 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04224,743,851 - 224,750,440 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44161,333,661 - 161,340,447 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14161,578,698 - 161,583,642 (+)NCBI
Celera4146,749,782 - 146,756,446 (+)NCBICelera
RH 3.4 Map41003.9RGD
Cytogenetic Map4q42NCBI
Vamp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554134,117,367 - 4,124,149 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554134,117,367 - 4,124,149 (-)NCBIChiLan1.0ChiLan1.0
VAMP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21012,023,662 - 12,032,366 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11212,020,416 - 12,029,162 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0126,592,688 - 6,601,317 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1126,486,475 - 6,518,459 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl126,509,762 - 6,518,459 (-)Ensemblpanpan1.1panPan2
VAMP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12738,518,978 - 38,526,361 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2738,518,974 - 38,559,455 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha278,090,305 - 8,097,691 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02738,872,706 - 38,880,082 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2738,872,951 - 38,880,078 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12738,745,477 - 38,752,859 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02738,786,894 - 38,794,280 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0277,569,199 - 7,576,586 (-)NCBIUU_Cfam_GSD_1.0
Vamp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945102,630,494 - 102,637,244 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367091,297,743 - 1,304,899 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367091,297,820 - 1,304,793 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
VAMP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1564,181,496 - 64,188,275 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2566,643,057 - 66,649,800 (+)NCBISscrofa10.2Sscrofa10.2susScr3
VAMP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1116,510,717 - 6,520,429 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660631,711,975 - 1,721,326 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Vamp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248603,213,474 - 3,219,359 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248603,212,549 - 3,219,354 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in VAMP1
90 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22		 pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121055-7272606)x3 copy number gain See cases [RCV000053663] Chr12:121055..7272606 [GRCh38]
Chr12:282465..7425202 [GRCh37]
Chr12:100482..7316469 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|See cases [RCV000053664] Chr12:121255..8361746 [GRCh38]
Chr12:282465..8514342 [GRCh37]
Chr12:100682..8405609 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
VAMP1, IVS4AS, T-G, +2 single nucleotide variant Ataxia, spastic, 1, autosomal dominant [RCV000128446] Chr12:12p13.31 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3 copy number gain See cases [RCV000135350] Chr12:45740..6945196 [GRCh38]
Chr12:147099..7054359 [GRCh37]
Chr12:17360..6924620 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 copy number gain See cases [RCV000137694] Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
NM_014231.5(VAMP1):c.340+2T>G single nucleotide variant Spastic ataxia 1 [RCV000128446]|Spastic paraplegia [RCV000233592]|not provided [RCV000255544] Chr12:6464888 [GRCh38]
Chr12:6574054 [GRCh37]
Chr12:12p13.31		 pathogenic
NM_014231.5(VAMP1):c.122T>A (p.Val41Glu) single nucleotide variant not provided [RCV000519689] Chr12:6466232 [GRCh38]
Chr12:6575398 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_014231.5(VAMP1):c.65del (p.Pro22fs) deletion Spastic paraplegia [RCV002518926]|not provided [RCV000362183] Chr12:6466289 [GRCh38]
Chr12:6575455 [GRCh37]
Chr12:12p13.31		 pathogenic|uncertain significance
NM_014231.5(VAMP1):c.335T>C (p.Ile112Thr) single nucleotide variant Spastic paraplegia [RCV001851474]|not specified [RCV000516773] Chr12:6464895 [GRCh38]
Chr12:6574061 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.*1630C>T single nucleotide variant not provided [RCV000517386] Chr12:6462840 [GRCh38]
Chr12:6572006 [GRCh37]
Chr12:12p13.31		 benign|likely benign|uncertain significance
NM_014231.5(VAMP1):c.230C>A (p.Ser77Ter) single nucleotide variant not provided [RCV000585509] Chr12:6465900 [GRCh38]
Chr12:6575066 [GRCh37]
Chr12:12p13.31		 likely pathogenic
NM_014231.5(VAMP1):c.340del (p.Ile114fs) deletion Myasthenic syndrome, congenital, 25, presynaptic [RCV000757907]|Spastic ataxia 1 [RCV002279727]|Spastic paraplegia [RCV001855899]|not provided [RCV001549899] Chr12:6464890 [GRCh38]
Chr12:6574056 [GRCh37]
Chr12:12p13.31		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8257049)x3 copy number gain See cases [RCV000446749] Chr12:173786..8257049 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.31(chr12:6571397-6574057)x1 copy number loss See cases [RCV000448079] Chr12:6571397..6574057 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1		 likely pathogenic
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3 copy number gain See cases [RCV000510853] Chr12:173786..11677456 [GRCh37]
Chr12:12p13.33-13.2		 pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22		 pathogenic
NC_000012.12:g.(?_6462812)_(6470551_?)del deletion Spastic paraplegia [RCV000633118] Chr12:6462812..6470551 [GRCh38]
Chr12:6571978..6579717 [GRCh37]
Chr12:12p13.31		 pathogenic|uncertain significance
NM_014231.5(VAMP1):c.146G>C (p.Arg49Pro) single nucleotide variant Congenital myasthenic syndrome [RCV000664239]|Myasthenic syndrome, congenital, 25, presynaptic [RCV000757909] Chr12:6465984 [GRCh38]
Chr12:6575150 [GRCh37]
Chr12:12p13.31		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3 copy number gain not provided [RCV000683477] Chr12:191242..8122785 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_014231.5(VAMP1):c.299T>C (p.Met100Thr) single nucleotide variant Spastic paraplegia [RCV002532963]|not provided [RCV000714169] Chr12:6464931 [GRCh38]
Chr12:6574097 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.129+1G>A single nucleotide variant Myasthenic syndrome, congenital, 25, presynaptic [RCV000757910] Chr12:6466224 [GRCh38]
Chr12:6575390 [GRCh37]
Chr12:12p13.31		 pathogenic
NM_014231.5(VAMP1):c.128_129del (p.Glu43fs) deletion Myasthenic syndrome, congenital, 25, presynaptic [RCV000757911] Chr12:6466225..6466226 [GRCh38]
Chr12:6575391..6575392 [GRCh37]
Chr12:12p13.31		 pathogenic
NM_014231.5(VAMP1):c.51_64del (p.Gly18fs) deletion Myasthenic syndrome, congenital, 25, presynaptic [RCV000757908] Chr12:6466290..6466303 [GRCh38]
Chr12:6575456..6575469 [GRCh37]
Chr12:12p13.31		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21		 pathogenic
NM_014231.5(VAMP1):c.114G>A (p.Gln38=) single nucleotide variant Spastic paraplegia [RCV000863577] Chr12:6466240 [GRCh38]
Chr12:6575406 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.3-6C>T single nucleotide variant Myasthenic syndrome, congenital, 25, presynaptic [RCV002272376]|Spastic paraplegia [RCV002064517] Chr12:6466357 [GRCh38]
Chr12:6575523 [GRCh37]
Chr12:12p13.31		 likely benign|uncertain significance
NC_000012.11:g.(?_6438458)_(7362839_?)dup duplication Peroxisome biogenesis disorder 2B [RCV001031288] Chr12:6438458..7362839 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292) copy number gain not provided [RCV000767818] Chr12:237588..8278292 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NC_000012.12:g.(1_3750000)_(5250000_9000000)del deletion Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697] Chr12:3750000..5250000 [GRCh38]
Chr12:12p13.33-13.31		 pathogenic|not provided
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497) copy number gain not provided [RCV000767819] Chr12:189216..8185497 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.31(chr12:6070459-6737675)x3 copy number gain not provided [RCV000848085] Chr12:6070459..6737675 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NM_014231.5(VAMP1):c.325G>A (p.Val109Met) single nucleotide variant Spastic paraplegia [RCV001053892] Chr12:6464905 [GRCh38]
Chr12:6574071 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3 copy number gain not provided [RCV000846343] Chr12:173786..8393815 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NC_000012.11:g.(?_4368352)_(9027607_?)dup duplication Lymphoproliferative syndrome 2 [RCV003105682] Chr12:4368352..9027607 [GRCh37]
Chr12:12p13.32-13.31		 uncertain significance
NM_014231.5(VAMP1):c.203G>A (p.Arg68Gln) single nucleotide variant Spastic paraplegia [RCV003107180]|not provided [RCV003140244] Chr12:6465927 [GRCh38]
Chr12:6575093 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.341-97G>A single nucleotide variant not provided [RCV001670934] Chr12:6464583 [GRCh38]
Chr12:6573749 [GRCh37]
Chr12:12p13.31		 benign
NM_014231.5(VAMP1):c.130-25T>A single nucleotide variant Myasthenic syndrome, congenital, 25, presynaptic [RCV002243423]|Spastic ataxia 1 [RCV002243422]|not provided [RCV001695243] Chr12:6466025 [GRCh38]
Chr12:6575191 [GRCh37]
Chr12:12p13.31		 benign
NM_014231.5(VAMP1):c.150G>C (p.Val50=) single nucleotide variant not provided [RCV000941743] Chr12:6465980 [GRCh38]
Chr12:6575146 [GRCh37]
Chr12:12p13.31		 likely benign
GRCh37/hg19 12p13.31(chr12:6523329-6606738)x1 copy number loss not provided [RCV001006479] Chr12:6523329..6606738 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.31(chr12:6528194-6606738)x1 copy number loss not provided [RCV001006480] Chr12:6528194..6606738 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.*1588T>C single nucleotide variant Myasthenic syndrome, congenital, 25, presynaptic [RCV002243336]|Spastic ataxia 1 [RCV002243335]|not provided [RCV001621632] Chr12:6462882 [GRCh38]
Chr12:6572048 [GRCh37]
Chr12:12p13.31		 benign
NM_014231.5(VAMP1):c.2+131T>C single nucleotide variant not provided [RCV001608359] Chr12:6470399 [GRCh38]
Chr12:6579565 [GRCh37]
Chr12:12p13.31		 benign
NM_014231.5(VAMP1):c.341-64A>G single nucleotide variant not provided [RCV001723090] Chr12:6464550 [GRCh38]
Chr12:6573716 [GRCh37]
Chr12:12p13.31		 benign
NM_014231.5(VAMP1):c.129+90_129+92del deletion not provided [RCV001717808] Chr12:6466133..6466135 [GRCh38]
Chr12:6575299..6575301 [GRCh37]
Chr12:12p13.31		 benign
NM_014231.5(VAMP1):c.340+146G>A single nucleotide variant not provided [RCV001677552] Chr12:6464744 [GRCh38]
Chr12:6573910 [GRCh37]
Chr12:12p13.31		 benign
NM_014231.5(VAMP1):c.289-194C>A single nucleotide variant not provided [RCV001620438] Chr12:6465135 [GRCh38]
Chr12:6574301 [GRCh37]
Chr12:12p13.31		 benign
NC_000012.12:g.6470901del deletion not provided [RCV001698549] Chr12:6470901 [GRCh38]
Chr12:6580067 [GRCh37]
Chr12:12p13.31		 benign
NM_014231.5(VAMP1):c.-115A>G single nucleotide variant not provided [RCV001620546] Chr12:6470646 [GRCh38]
Chr12:6579812 [GRCh37]
Chr12:12p13.31		 benign
NM_014231.5(VAMP1):c.340+200C>A single nucleotide variant not provided [RCV001652949] Chr12:6464690 [GRCh38]
Chr12:6573856 [GRCh37]
Chr12:12p13.31		 benign
NM_014231.5(VAMP1):c.341-65C>T single nucleotide variant not provided [RCV001695739] Chr12:6464551 [GRCh38]
Chr12:6573717 [GRCh37]
Chr12:12p13.31		 benign
NM_014231.5(VAMP1):c.307G>A (p.Ala103Thr) single nucleotide variant Spastic paraplegia [RCV001205550] Chr12:6464923 [GRCh38]
Chr12:6574089 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.315T>A (p.Cys105Ter) single nucleotide variant Spastic paraplegia [RCV002539646]|not provided [RCV001663540] Chr12:6464915 [GRCh38]
Chr12:6574081 [GRCh37]
Chr12:12p13.31		 likely pathogenic|uncertain significance
NM_014231.5(VAMP1):c.34A>T (p.Thr12Ser) single nucleotide variant Spastic paraplegia [RCV001304653] Chr12:6466320 [GRCh38]
Chr12:6575486 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.252C>A (p.Ala84=) single nucleotide variant Myasthenic syndrome, congenital, 25, presynaptic [RCV002245945]|Spastic ataxia 1 [RCV002245944]|Spastic paraplegia [RCV001519990]|not provided [RCV001664803]|not specified [RCV001289416] Chr12:6465878 [GRCh38]
Chr12:6575044 [GRCh37]
Chr12:12p13.31		 benign
GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3 copy number gain not provided [RCV001537906] Chr12:189145..7730395 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NC_000012.11:g.(?_6438478)_(7362819_?)dup duplication Temtamy syndrome [RCV001365174] Chr12:6438478..7362819 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.*1445A>G single nucleotide variant not provided [RCV001650619] Chr12:6463025 [GRCh38]
Chr12:6572191 [GRCh37]
Chr12:12p13.31		 benign
NM_014231.5(VAMP1):c.26C>G (p.Ala9Gly) single nucleotide variant Spastic paraplegia [RCV001868642]|not provided [RCV001764116] Chr12:6466328 [GRCh38]
Chr12:6575494 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3 copy number gain Obesity [RCV001801197] Chr12:146240..8330229 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NC_000012.11:g.(?_6438478)_(8248686_?)dup duplication Temtamy syndrome [RCV003120743]|not provided [RCV001913769] Chr12:6438478..8248686 [GRCh37]
Chr12:12p13.31		 uncertain significance|no classifications from unflagged records
NC_000012.11:g.(?_6438478)_(8756953_?)dup duplication not provided [RCV001970781] Chr12:6438478..8756953 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.2+3G>A single nucleotide variant Spastic paraplegia [RCV001947902] Chr12:6470527 [GRCh38]
Chr12:6579693 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.340+9C>T single nucleotide variant Spastic paraplegia [RCV001983757] Chr12:6464881 [GRCh38]
Chr12:6574047 [GRCh37]
Chr12:12p13.31		 likely benign
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NM_014231.5(VAMP1):c.130-6C>G single nucleotide variant Spastic paraplegia [RCV001894589] Chr12:6466006 [GRCh38]
Chr12:6575172 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.31(chr12:6530146-7376398) copy number gain not specified [RCV002052968] Chr12:6530146..7376398 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.97C>T (p.Arg33Ter) single nucleotide variant Spastic paraplegia [RCV001982906] Chr12:6466257 [GRCh38]
Chr12:6575423 [GRCh37]
Chr12:12p13.31		 pathogenic
NM_014231.5(VAMP1):c.58G>A (p.Gly20Ser) single nucleotide variant Spastic paraplegia [RCV001946457] Chr12:6466296 [GRCh38]
Chr12:6575462 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.98G>A (p.Arg33Gln) single nucleotide variant Spastic paraplegia [RCV001887437] Chr12:6466256 [GRCh38]
Chr12:6575422 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.353C>T (p.Thr118Ile) single nucleotide variant Spastic paraplegia [RCV001937004] Chr12:6464474 [GRCh38]
Chr12:6573640 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_6438478)_(9027607_?)dup duplication not provided [RCV001943267] Chr12:6438478..9027607 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.59del (p.Gly20fs) deletion Spastic paraplegia [RCV001958880] Chr12:6466295 [GRCh38]
Chr12:6575461 [GRCh37]
Chr12:12p13.31		 pathogenic
NM_014231.5(VAMP1):c.341T>C (p.Ile114Thr) single nucleotide variant Spastic paraplegia [RCV001899890] Chr12:6464486 [GRCh38]
Chr12:6573652 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.74C>T (p.Pro25Leu) single nucleotide variant Spastic paraplegia [RCV001994262] Chr12:6466280 [GRCh38]
Chr12:6575446 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.19C>T (p.Pro7Ser) single nucleotide variant Spastic paraplegia [RCV001882151] Chr12:6466335 [GRCh38]
Chr12:6575501 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_6573636)_(6579697_?)dup duplication Spastic paraplegia [RCV001939180] Chr12:6573636..6579697 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.130-15C>G single nucleotide variant Spastic paraplegia [RCV002085303] Chr12:6466015 [GRCh38]
Chr12:6575181 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.2+17G>A single nucleotide variant Spastic paraplegia [RCV002127003] Chr12:6470513 [GRCh38]
Chr12:6579679 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.341-21_341-19delinsAAA indel Spastic paraplegia [RCV002112496] Chr12:6464505..6464507 [GRCh38]
Chr12:6573671..6573673 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.222A>G (p.Ala74=) single nucleotide variant Spastic paraplegia [RCV002186922] Chr12:6465908 [GRCh38]
Chr12:6575074 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.258A>G (p.Leu86=) single nucleotide variant Spastic paraplegia [RCV002148123] Chr12:6465872 [GRCh38]
Chr12:6575038 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.341-18_341-16del deletion Spastic paraplegia [RCV002096234] Chr12:6464502..6464504 [GRCh38]
Chr12:6573668..6573670 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.289-13C>T single nucleotide variant Spastic paraplegia [RCV002132411] Chr12:6464954 [GRCh38]
Chr12:6574120 [GRCh37]
Chr12:12p13.31		 benign
NM_014231.5(VAMP1):c.288+15C>T single nucleotide variant Spastic paraplegia [RCV002132030] Chr12:6465827 [GRCh38]
Chr12:6574993 [GRCh37]
Chr12:12p13.31		 benign
NM_014231.5(VAMP1):c.2+15G>A single nucleotide variant Spastic paraplegia [RCV002153468] Chr12:6470515 [GRCh38]
Chr12:6579681 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.186G>A (p.Leu62=) single nucleotide variant Spastic paraplegia [RCV002107866] Chr12:6465944 [GRCh38]
Chr12:6575110 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.341-19T>G single nucleotide variant Spastic paraplegia [RCV002094173] Chr12:6464505 [GRCh38]
Chr12:6573671 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.340+10G>A single nucleotide variant Spastic paraplegia [RCV002097854] Chr12:6464880 [GRCh38]
Chr12:6574046 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.340+16G>A single nucleotide variant Spastic paraplegia [RCV002198274] Chr12:6464874 [GRCh38]
Chr12:6574040 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.288+16C>T single nucleotide variant Spastic paraplegia [RCV002217037] Chr12:6465826 [GRCh38]
Chr12:6574992 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.2+12C>T single nucleotide variant Spastic paraplegia [RCV002081588] Chr12:6470518 [GRCh38]
Chr12:6579684 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.111C>T (p.Thr37=) single nucleotide variant Spastic paraplegia [RCV002141757] Chr12:6466243 [GRCh38]
Chr12:6575409 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.2+8G>A single nucleotide variant Spastic paraplegia [RCV002159431] Chr12:6470522 [GRCh38]
Chr12:6579688 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.55G>C (p.Gly19Arg) single nucleotide variant Spastic paraplegia [RCV003115552] Chr12:6466299 [GRCh38]
Chr12:6575465 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.2+10C>T single nucleotide variant not provided [RCV002474383] Chr12:6470520 [GRCh38]
Chr12:6579686 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.66del (p.Gly23fs) deletion Spastic paraplegia [RCV002574694]|not provided [RCV002474381] Chr12:6466288 [GRCh38]
Chr12:6575454 [GRCh37]
Chr12:12p13.31		 pathogenic
NM_014231.5(VAMP1):c.172A>G (p.Arg58Gly) single nucleotide variant not provided [RCV002474382] Chr12:6465958 [GRCh38]
Chr12:6575124 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.340+2T>A single nucleotide variant Spastic paraplegia [RCV002571516]|not provided [RCV002474384] Chr12:6464888 [GRCh38]
Chr12:6574054 [GRCh37]
Chr12:12p13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_014231.5(VAMP1):c.232_233del (p.Gln78fs) microsatellite not provided [RCV003233148] Chr12:6465897..6465898 [GRCh38]
Chr12:6575063..6575064 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3 copy number gain not provided [RCV002472514] Chr12:173787..8320544 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_014231.5(VAMP1):c.311T>C (p.Ile104Thr) single nucleotide variant Spastic paraplegia [RCV002775748] Chr12:6464919 [GRCh38]
Chr12:6574085 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.3-19T>C single nucleotide variant Spastic paraplegia [RCV002882285] Chr12:6466370 [GRCh38]
Chr12:6575536 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.340+20C>T single nucleotide variant Spastic paraplegia [RCV002927660] Chr12:6464870 [GRCh38]
Chr12:6574036 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.129+19C>T single nucleotide variant Spastic paraplegia [RCV003078135] Chr12:6466206 [GRCh38]
Chr12:6575372 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.340+12T>G single nucleotide variant Spastic paraplegia [RCV002923203] Chr12:6464878 [GRCh38]
Chr12:6574044 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.346T>C (p.Phe116Leu) single nucleotide variant Spastic paraplegia [RCV002639294] Chr12:6464481 [GRCh38]
Chr12:6573647 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.20C>T (p.Pro7Leu) single nucleotide variant Spastic paraplegia [RCV002927386] Chr12:6466334 [GRCh38]
Chr12:6575500 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.195G>A (p.Leu65=) single nucleotide variant Spastic paraplegia [RCV003052888] Chr12:6465935 [GRCh38]
Chr12:6575101 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.129G>C (p.Glu43Asp) single nucleotide variant Spastic paraplegia [RCV002852751] Chr12:6466225 [GRCh38]
Chr12:6575391 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.289-20T>G single nucleotide variant Spastic paraplegia [RCV003040803] Chr12:6464961 [GRCh38]
Chr12:6574127 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.351T>C (p.Phe117=) single nucleotide variant Spastic paraplegia [RCV002941914] Chr12:6464476 [GRCh38]
Chr12:6573642 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.288+12T>G single nucleotide variant Spastic paraplegia [RCV003091847] Chr12:6465830 [GRCh38]
Chr12:6574996 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.338dup (p.Ile114fs) duplication Spastic paraplegia [RCV002922652] Chr12:6464891..6464892 [GRCh38]
Chr12:6574057..6574058 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.341-18C>A single nucleotide variant Spastic paraplegia [RCV002898868] Chr12:6464504 [GRCh38]
Chr12:6573670 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.105G>A (p.Gln35=) single nucleotide variant Spastic paraplegia [RCV003050994] Chr12:6466249 [GRCh38]
Chr12:6575415 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.336T>C (p.Ile112=) single nucleotide variant Spastic paraplegia [RCV002605150] Chr12:6464894 [GRCh38]
Chr12:6574060 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.152dup (p.Asn51fs) duplication Spastic ataxia 1 [RCV003320009] Chr12:6465977..6465978 [GRCh38]
Chr12:6575143..6575144 [GRCh37]
Chr12:12p13.31		 likely pathogenic
NM_014231.5(VAMP1):c.16C>G (p.Gln6Glu) single nucleotide variant Spastic paraplegia [RCV003874597] Chr12:6466338 [GRCh38]
Chr12:6575504 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.338T>G (p.Val113Gly) single nucleotide variant not provided [RCV003482599] Chr12:6464892 [GRCh38]
Chr12:6574058 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.230C>T (p.Ser77Leu) single nucleotide variant VAMP1-related condition [RCV003400352] Chr12:6465900 [GRCh38]
Chr12:6575066 [GRCh37]
Chr12:12p13.31		 uncertain significance
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_014231.5(VAMP1):c.71C>A (p.Pro24His) single nucleotide variant Spastic paraplegia [RCV003829976] Chr12:6466283 [GRCh38]
Chr12:6575449 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.2+19G>C single nucleotide variant Spastic paraplegia [RCV003751623] Chr12:6470511 [GRCh38]
Chr12:6579677 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.3-12G>A single nucleotide variant Spastic paraplegia [RCV003751493] Chr12:6466363 [GRCh38]
Chr12:6575529 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.159C>G (p.Asp53Glu) single nucleotide variant Spastic paraplegia [RCV003750582] Chr12:6465971 [GRCh38]
Chr12:6575137 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.146G>A (p.Arg49His) single nucleotide variant Spastic paraplegia [RCV003751449] Chr12:6465984 [GRCh38]
Chr12:6575150 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.289-16G>A single nucleotide variant Spastic paraplegia [RCV003750717] Chr12:6464957 [GRCh38]
Chr12:6574123 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.3-9T>C single nucleotide variant Spastic paraplegia [RCV003751203] Chr12:6466360 [GRCh38]
Chr12:6575526 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.324C>T (p.Ile108=) single nucleotide variant Spastic paraplegia [RCV003590958] Chr12:6464906 [GRCh38]
Chr12:6574072 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.289-6C>T single nucleotide variant Spastic paraplegia [RCV003853938] Chr12:6464947 [GRCh38]
Chr12:6574113 [GRCh37]
Chr12:12p13.31		 likely benign
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 copy number gain not specified [RCV003986979] Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_014231.5(VAMP1):c.17A>C (p.Gln6Pro) single nucleotide variant Spastic paraplegia [RCV003588173] Chr12:6466337 [GRCh38]
Chr12:6575503 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.291G>C (p.Met97Ile) single nucleotide variant Spastic paraplegia [RCV003589351] Chr12:6464939 [GRCh38]
Chr12:6574105 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.3-14_3-13del deletion Spastic paraplegia [RCV003588137] Chr12:6466364..6466365 [GRCh38]
Chr12:6575530..6575531 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.341-10C>T single nucleotide variant Spastic paraplegia [RCV003588451] Chr12:6464496 [GRCh38]
Chr12:6573662 [GRCh37]
Chr12:12p13.31		 likely benign
NM_014231.5(VAMP1):c.263G>A (p.Arg88Lys) single nucleotide variant Inborn genetic diseases [RCV004480030] Chr12:6465867 [GRCh38]
Chr12:6575033 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_014231.5(VAMP1):c.341-2A>G single nucleotide variant Myasthenic syndrome, congenital, 25, presynaptic [RCV003327350]|Spastic paraplegia [RCV003588890] Chr12:6464488 [GRCh38]
Chr12:6573654 [GRCh37]
Chr12:12p13.31		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3349
Count of miRNA genes:961
Interacting mature miRNAs:1175
Transcripts:ENST00000361716, ENST00000396308, ENST00000400911, ENST00000535180, ENST00000535927, ENST00000538970, ENST00000539047, ENST00000544432
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D12S111E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37126,572,892 - 6,573,069UniSTSGRCh37
GRCh37126,572,865 - 6,572,939UniSTSGRCh37
GRCh37126,572,863 - 6,572,971UniSTSGRCh37
Build 36126,443,126 - 6,443,200RGDNCBI36
Celera128,189,781 - 8,189,958UniSTS
Celera128,189,754 - 8,189,828RGD
Celera128,189,752 - 8,189,860UniSTS
Cytogenetic Map12pUniSTS
HuRef126,427,054 - 6,427,128UniSTS
HuRef126,427,052 - 6,427,160UniSTS
HuRef126,427,081 - 6,427,258UniSTS
TNG Radiation Hybrid Map122477.0UniSTS
Stanford-G3 RH Map12453.0UniSTS
Whitehead-RH Map1273.5UniSTS
NCBI RH Map12101.2UniSTS
GeneMap99-G3 RH Map12453.0UniSTS
RH44502  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37126,571,240 - 6,571,392UniSTSGRCh37
Build 36126,441,501 - 6,441,653RGDNCBI36
Celera128,188,129 - 8,188,281RGD
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map12pUniSTS
HuRef126,425,429 - 6,425,581UniSTS
GeneMap99-GB4 RH Map1238.85UniSTS
NCBI RH Map1294.1UniSTS
RH80806  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37126,573,383 - 6,573,620UniSTSGRCh37
Build 36126,443,644 - 6,443,881RGDNCBI36
Celera128,190,272 - 8,190,509RGD
Cytogenetic Map12pUniSTS
HuRef126,427,572 - 6,427,809UniSTS
GeneMap99-GB4 RH Map1241.61UniSTS
D12S900  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37126,574,430 - 6,574,690UniSTSGRCh37
Build 36126,444,691 - 6,444,951RGDNCBI36
Celera128,191,319 - 8,191,579RGD
Cytogenetic Map12pUniSTS
HuRef126,428,619 - 6,428,851UniSTS
GDB:214816  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37126,573,259 - 6,573,623UniSTSGRCh37
Build 36126,443,520 - 6,443,884RGDNCBI36
Celera128,190,148 - 8,190,512RGD
Cytogenetic Map12pUniSTS
HuRef126,427,448 - 6,427,812UniSTS
GDB:384731  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37126,579,893 - 6,580,117UniSTSGRCh37
Build 36126,450,154 - 6,450,378RGDNCBI36
Celera128,196,782 - 8,197,006RGD
Cytogenetic Map12pUniSTS
HuRef126,434,054 - 6,434,278UniSTS
VAMP1_2267  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37126,571,317 - 6,572,079UniSTSGRCh37
Build 36126,441,578 - 6,442,340RGDNCBI36
Celera128,188,206 - 8,188,968RGD
HuRef126,425,506 - 6,426,268UniSTS
STS-M36200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37126,573,260 - 6,573,451UniSTSGRCh37
Build 36126,443,521 - 6,443,712RGDNCBI36
Celera128,190,149 - 8,190,340RGD
Cytogenetic Map12pUniSTS
HuRef126,427,449 - 6,427,640UniSTS
GeneMap99-GB4 RH Map1239.81UniSTS
NCBI RH Map1294.1UniSTS
G41275  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37126,580,505 - 6,580,693UniSTSGRCh37
Build 36126,450,766 - 6,450,954RGDNCBI36
Celera128,197,394 - 8,197,582RGD
Cytogenetic Map12pUniSTS
HuRef126,434,666 - 6,434,854UniSTS
D12S1215E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37126,571,580 - 6,571,694UniSTSGRCh37
Build 36126,441,841 - 6,441,955RGDNCBI36
Celera128,188,469 - 8,188,583RGD
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map12pUniSTS
HuRef126,425,769 - 6,425,883UniSTS
GeneMap99-GB4 RH Map1239.88UniSTS
NCBI RH Map1294.1UniSTS
D12S111E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12pUniSTS
D12S111E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12pUniSTS
TNG Radiation Hybrid Map122477.0UniSTS
Stanford-G3 RH Map12453.0UniSTS
NCBI RH Map12101.2UniSTS
GeneMap99-G3 RH Map12453.0UniSTS


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 2101 2045 1315 273 1748 133 2618 1008 3328 115 1234 1384 144 718 1709
Low 336 942 409 349 202 331 1737 1187 404 301 222 225 28 1 486 1079 4 1
Below cutoff 2 1 2 1 1 1 2 3 4 3 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001297438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_199245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_123717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF060538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU279974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE246448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE797045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF338798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF341451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI838752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM837373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ717992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB215628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR989458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R83084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z48924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000361716   ⟹   ENSP00000355122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,462,237 - 6,470,677 (-)Ensembl
RefSeq Acc Id: ENST00000396308   ⟹   ENSP00000379602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,462,237 - 6,470,677 (-)Ensembl
RefSeq Acc Id: ENST00000400911   ⟹   ENSP00000383702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,462,237 - 6,470,653 (-)Ensembl
RefSeq Acc Id: ENST00000535180   ⟹   ENSP00000444181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,462,677 - 6,470,645 (-)Ensembl
RefSeq Acc Id: ENST00000535927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,464,671 - 6,470,677 (-)Ensembl
RefSeq Acc Id: ENST00000538970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,464,582 - 6,466,272 (-)Ensembl
RefSeq Acc Id: ENST00000539047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,465,203 - 6,470,677 (-)Ensembl
RefSeq Acc Id: ENST00000544432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,462,380 - 6,470,614 (-)Ensembl
RefSeq Acc Id: NM_001297438   ⟹   NP_001284367
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,462,237 - 6,470,677 (-)NCBI
CHM1_1126,570,277 - 6,578,939 (-)NCBI
T2T-CHM13v2.0126,472,621 - 6,481,015 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014231   ⟹   NP_055046
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,462,237 - 6,470,677 (-)NCBI
GRCh37126,571,403 - 6,579,843 (-)RGD
Build 36126,441,664 - 6,450,104 (-)NCBI Archive
Celera128,188,292 - 8,196,732 (-)RGD
HuRef126,425,592 - 6,434,004 (-)RGD
CHM1_1126,570,277 - 6,578,939 (-)NCBI
T2T-CHM13v2.0126,472,621 - 6,481,015 (-)NCBI
Sequence:
RefSeq Acc Id: NM_016830   ⟹   NP_058439
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,462,237 - 6,470,677 (-)NCBI
GRCh37126,571,403 - 6,579,843 (-)RGD
Build 36126,441,664 - 6,450,104 (-)NCBI Archive
Celera128,188,292 - 8,196,732 (-)RGD
HuRef126,425,592 - 6,434,004 (-)RGD
CHM1_1126,570,277 - 6,578,939 (-)NCBI
T2T-CHM13v2.0126,472,621 - 6,481,015 (-)NCBI
Sequence:
RefSeq Acc Id: NM_199245   ⟹   NP_954740
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,462,237 - 6,470,677 (-)NCBI
GRCh37126,571,403 - 6,579,843 (-)RGD
Build 36126,441,664 - 6,450,104 (-)NCBI Archive
Celera128,188,292 - 8,196,732 (-)RGD
HuRef126,425,592 - 6,434,004 (-)RGD
CHM1_1126,570,277 - 6,578,939 (-)NCBI
T2T-CHM13v2.0126,472,621 - 6,481,015 (-)NCBI
Sequence:
RefSeq Acc Id: NR_123717
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,462,237 - 6,470,677 (-)NCBI
CHM1_1126,570,277 - 6,578,939 (-)NCBI
T2T-CHM13v2.0126,472,621 - 6,481,015 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_954740   ⟸   NM_199245
- Peptide Label: isoform 2
- UniProtKB: A8K0D3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_055046   ⟸   NM_014231
- Peptide Label: isoform 1
- UniProtKB: Q6FG94 (UniProtKB/Swiss-Prot),   Q15857 (UniProtKB/Swiss-Prot),   O75468 (UniProtKB/Swiss-Prot),   D3DUR3 (UniProtKB/Swiss-Prot),   A8MVP3 (UniProtKB/Swiss-Prot),   Q8IVC9 (UniProtKB/Swiss-Prot),   P23763 (UniProtKB/Swiss-Prot),   A8K0D3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_058439   ⟸   NM_016830
- Peptide Label: isoform 3
- UniProtKB: A8K0D3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001284367   ⟸   NM_001297438
- Peptide Label: isoform 4
- UniProtKB: F5GZV7 (UniProtKB/TrEMBL),   A8K0D3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000355122   ⟸   ENST00000361716
RefSeq Acc Id: ENSP00000383702   ⟸   ENST00000400911
RefSeq Acc Id: ENSP00000444181   ⟸   ENST00000535180
RefSeq Acc Id: ENSP00000379602   ⟸   ENST00000396308
Protein Domains
v-SNARE coiled-coil homology

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P23763-F1-model_v2 AlphaFold P23763 1-118 view protein structure

Promoters
RGD ID:6789946
Promoter ID:HG_KWN:14813
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000355479,   ENST00000361716,   NM_014231,   NM_016830
Position:
Human AssemblyChrPosition (strand)Source
Build 36126,449,879 - 6,450,379 (-)MPROMDB
RGD ID:7222867
Promoter ID:EPDNEW_H17178
Type:initiation region
Name:VAMP1_1
Description:vesicle associated membrane protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17179  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,470,677 - 6,470,737EPDNEW
RGD ID:7222865
Promoter ID:EPDNEW_H17179
Type:initiation region
Name:VAMP1_2
Description:vesicle associated membrane protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17178  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,470,943 - 6,471,003EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12642 AgrOrtholog
COSMIC VAMP1 COSMIC
Ensembl Genes ENSG00000139190 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000361716 ENTREZGENE
  ENST00000361716.8 UniProtKB/Swiss-Prot
  ENST00000396308 ENTREZGENE
  ENST00000396308.4 UniProtKB/Swiss-Prot
  ENST00000400911 ENTREZGENE
  ENST00000400911.7 UniProtKB/Swiss-Prot
  ENST00000535180 ENTREZGENE
  ENST00000535180.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.5.110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000139190 GTEx
HGNC ID HGNC:12642 ENTREZGENE
Human Proteome Map VAMP1 Human Proteome Map
InterPro Synaptobrevin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synaptobrevin/VAMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  V_SNARE_CC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6843 UniProtKB/Swiss-Prot
NCBI Gene 6843 ENTREZGENE
OMIM 185880 OMIM
PANTHER PTHR45701 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VESICLE-ASSOCIATED MEMBRANE PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Synaptobrevin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37266 PharmGKB
PIRSF Synaptobrevin_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS SYNAPTOBREVN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SYNAPTOBREVIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  V_SNARE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SNARE fusion complex UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K0D3 ENTREZGENE, UniProtKB/TrEMBL
  A8MVP3 ENTREZGENE
  D3DUR3 ENTREZGENE
  F5GZV7 ENTREZGENE, UniProtKB/TrEMBL
  O75468 ENTREZGENE
  P23763 ENTREZGENE
  Q15857 ENTREZGENE
  Q6FG94 ENTREZGENE
  Q8IVC9 ENTREZGENE
  VAMP1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8MVP3 UniProtKB/Swiss-Prot
  D3DUR3 UniProtKB/Swiss-Prot
  O75468 UniProtKB/Swiss-Prot
  Q15857 UniProtKB/Swiss-Prot
  Q6FG94 UniProtKB/Swiss-Prot
  Q8IVC9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-15 VAMP1  vesicle associated membrane protein 1  SAX1  spastic ataxia 1 (dominant)  Data merged from RGD:1351939 737654 PROVISIONAL
2015-11-10 VAMP1  vesicle associated membrane protein 1    vesicle-associated membrane protein 1 (synaptobrevin 1)  Symbol and/or name change 5135510 APPROVED