NECAP1 (NECAP endocytosis associated 1) - Rat Genome Database

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Gene: NECAP1 (NECAP endocytosis associated 1) Homo sapiens
Analyze
Symbol: NECAP1
Name: NECAP endocytosis associated 1
RGD ID: 1603669
HGNC Page HGNC:24539
Description: Predicted to be involved in presynaptic endocytosis. Predicted to be located in cytosol. Predicted to be part of clathrin vesicle coat. Predicted to be active in presynapse. Implicated in developmental and epileptic encephalopathy 21.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: adaptin ear-binding coat-associated protein 1; adaptin-ear-binding coat-associated protein 1; DEE21; DKFZP566B183; EIEE21; MGC131900; NECAP endocytosis-associated protein 1; NECAP-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: NECAP1P1   NECAP1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38128,082,274 - 8,097,881 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl128,076,939 - 8,097,881 (+)EnsemblGRCh38hg38GRCh38
GRCh37128,234,870 - 8,250,477 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36127,989,001 - 8,141,634 (+)NCBINCBI36Build 36hg18NCBI36
Celera129,811,877 - 9,827,432 (+)NCBICelera
Cytogenetic Map12p13.31NCBI
HuRef128,046,534 - 8,062,074 (+)NCBIHuRef
CHM1_1128,234,026 - 8,249,598 (+)NCBICHM1_1
T2T-CHM13v2.0128,095,874 - 8,111,478 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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 corpus callosum morphology  (IAGP)
Abnormal involuntary eye movements  (IAGP)
Abnormal myelination  (IAGP)
Abnormality of coordination  (IAGP)
Abnormality of vision  (IAGP)
Ataxia  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial hypotonia  (IAGP)
Brain atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Congenital onset  (IAGP)
Decreased fetal movement  (IAGP)
Delayed speech and language development  (IAGP)
Developmental regression  (IAGP)
Difficulty walking  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dyskinesia  (IAGP)
EEG with multifocal slow activity  (IAGP)
Encephalopathy  (IAGP)
Epileptic encephalopathy  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Generalized tonic seizure  (IAGP)
Global developmental delay  (IAGP)
High forehead  (IAGP)
Hypodontia  (IAGP)
Hyporeflexia  (IAGP)
Hypsarrhythmia  (IAGP)
Impulsivity  (IAGP)
Intellectual disability  (IAGP)
Interictal epileptiform activity  (IAGP)
Involuntary movements  (IAGP)
Limb hypertonia  (IAGP)
Mental deterioration  (IAGP)
Microcephaly  (IAGP)
Multifocal seizures  (IAGP)
Myoclonus  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Poor head control  (IAGP)
Profound global developmental delay  (IAGP)
Ptosis  (IAGP)
Reduced tendon reflexes  (IAGP)
Retinal degeneration  (IAGP)
Rigidity  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Spasticity  (IAGP)
Status epilepticus  (IAGP)
Tremor  (IAGP)
Unsteady gait  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:12477932   PMID:14555962   PMID:14665628   PMID:14702039   PMID:14973137   PMID:15292237   PMID:15489334   PMID:15494011   PMID:16344560   PMID:16879712   PMID:19380743   PMID:20237496  
PMID:21832049   PMID:21873635   PMID:24399846   PMID:25416956   PMID:26186194   PMID:26344197   PMID:26496610   PMID:28514442   PMID:29229926   PMID:29513927   PMID:29997244   PMID:31430451  
PMID:32296183   PMID:33001583   PMID:33961781   PMID:34597346   PMID:35271311   PMID:35831314   PMID:36232890   PMID:36398662  


Genomics

Comparative Map Data
NECAP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38128,082,274 - 8,097,881 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl128,076,939 - 8,097,881 (+)EnsemblGRCh38hg38GRCh38
GRCh37128,234,870 - 8,250,477 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36127,989,001 - 8,141,634 (+)NCBINCBI36Build 36hg18NCBI36
Celera129,811,877 - 9,827,432 (+)NCBICelera
Cytogenetic Map12p13.31NCBI
HuRef128,046,534 - 8,062,074 (+)NCBIHuRef
CHM1_1128,234,026 - 8,249,598 (+)NCBICHM1_1
T2T-CHM13v2.0128,095,874 - 8,111,478 (+)NCBIT2T-CHM13v2.0
Necap1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396122,851,516 - 122,865,902 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6122,851,433 - 122,865,900 (+)EnsemblGRCm39 Ensembl
GRCm386122,874,557 - 122,888,943 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6122,874,474 - 122,888,941 (+)EnsemblGRCm38mm10GRCm38
MGSCv376122,824,575 - 122,838,959 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366122,840,176 - 122,854,560 (+)NCBIMGSCv36mm8
Celera6124,676,728 - 124,691,173 (+)NCBICelera
Cytogenetic Map6F2NCBI
cM Map657.96NCBI
Necap1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84157,775,890 - 157,790,992 (+)NCBIGRCr8
mRatBN7.24156,103,935 - 156,119,068 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4156,103,988 - 156,119,068 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4162,373,641 - 162,388,733 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04158,156,863 - 158,171,955 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04156,801,946 - 156,817,038 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04155,709,712 - 155,724,801 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4155,709,613 - 155,724,790 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04222,730,478 - 222,745,567 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44159,354,507 - 159,369,596 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14159,599,461 - 159,614,524 (+)NCBI
Celera4144,924,247 - 144,939,336 (+)NCBICelera
Cytogenetic Map4q42NCBI
Necap1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554136,737,785 - 6,754,162 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554136,737,785 - 6,751,672 (+)NCBIChiLan1.0ChiLan1.0
NECAP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21013,635,763 - 13,653,693 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11213,632,524 - 13,654,420 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0128,201,908 - 8,217,043 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1128,244,137 - 8,259,247 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl128,243,785 - 8,282,647 (+)Ensemblpanpan1.1panPan2
NECAP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12737,460,545 - 37,472,512 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2737,460,607 - 37,507,052 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha279,143,445 - 9,155,412 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02737,814,521 - 37,826,493 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2737,814,508 - 37,864,273 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12737,689,204 - 37,701,156 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02737,730,473 - 37,742,640 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0278,630,216 - 8,642,197 (-)NCBIUU_Cfam_GSD_1.0
Necap1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494599,188,170 - 99,200,553 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936892372,284 - 385,202 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936892372,743 - 385,127 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NECAP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl563,122,335 - 63,139,664 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1563,122,280 - 63,135,550 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
NECAP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1118,155,432 - 8,170,873 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl118,154,976 - 8,171,025 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666089251,027 - 267,789 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Necap1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248605,223,610 - 5,237,451 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248605,224,170 - 5,237,235 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NECAP1
161 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 12p13.33-11.1(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
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(chr12:121255-8361746)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
NM_015509.4(NECAP1):c.142C>T (p.Arg48Ter) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV000119841] Chr12:8089982 [GRCh38]
Chr12:8242578 [GRCh37]
Chr12:12p13.31
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
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 12p13.31(chr12:7850905-8455624)x1 copy number loss See cases [RCV000139476] Chr12:7850905..8455624 [GRCh38]
Chr12:8003501..8608220 [GRCh37]
Chr12:7894768..8499487 [NCBI36]
Chr12:12p13.31
likely benign
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
NM_015509.4(NECAP1):c.301+1G>A single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001194672] Chr12:8090300 [GRCh38]
Chr12:8242896 [GRCh37]
Chr12:12p13.31
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_015509.4(NECAP1):c.268C>T (p.Arg90Cys) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV000547050] Chr12:8090266 [GRCh38]
Chr12:8242862 [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_015509.4(NECAP1):c.791A>G (p.Asn264Ser) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV000550257] Chr12:8096053 [GRCh38]
Chr12:8248649 [GRCh37]
Chr12:12p13.31
uncertain significance
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
NM_015509.4(NECAP1):c.670G>A (p.Asp224Asn) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV000535781]|Seizure [RCV001255118] Chr12:8093049 [GRCh38]
Chr12:8245645 [GRCh37]
Chr12:12p13.31
benign|uncertain significance
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(chr12:7770670-8646662)x3 copy number gain See cases [RCV000448032] Chr12:7770670..8646662 [GRCh37]
Chr12:12p13.31
likely benign
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 12p13.33-11.1(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-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-13.2(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
NM_015509.4(NECAP1):c.751T>G (p.Leu251Val) single nucleotide variant Inborn genetic diseases [RCV003292468] Chr12:8095675 [GRCh38]
Chr12:8248271 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.251C>T (p.Thr84Met) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV000536844]|Inborn genetic diseases [RCV002526707]|not provided [RCV003392401] Chr12:8090249 [GRCh38]
Chr12:8242845 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.581A>G (p.Lys194Arg) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV000557465]|Inborn genetic diseases [RCV002526708] Chr12:8092960 [GRCh38]
Chr12:8245556 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.134G>C (p.Gly45Ala) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV000652189] Chr12:8089974 [GRCh38]
Chr12:8242570 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.10G>A (p.Glu4Lys) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV000652190] Chr12:8082298 [GRCh38]
Chr12:8234894 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.715A>T (p.Thr239Ser) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV000652191] Chr12:8095639 [GRCh38]
Chr12:8248235 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.383+3G>T single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV000652192] Chr12:8091853 [GRCh38]
Chr12:8244449 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.252G>A (p.Thr84=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV000652193] Chr12:8090250 [GRCh38]
Chr12:8242846 [GRCh37]
Chr12:12p13.31
likely benign
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-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)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_015509.4(NECAP1):c.56T>C (p.Val19Ala) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV000697456] Chr12:8082344 [GRCh38]
Chr12:8234940 [GRCh37]
Chr12:12p13.31
uncertain significance
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 12p13.31(chr12:8029351-8705395)x3 copy number gain not provided [RCV000737754] Chr12:8029351..8705395 [GRCh37]
Chr12:12p13.31
benign
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
GRCh37/hg19 12p13.31(chr12:6911437-9381254)x3 copy number gain not provided [RCV000750277] Chr12:6911437..9381254 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.780-6T>C single nucleotide variant not provided [RCV000900770] Chr12:8096036 [GRCh38]
Chr12:8248632 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.114A>G (p.Leu38=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV000950539]|not provided [RCV003392707] Chr12:8089954 [GRCh38]
Chr12:8242550 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.417A>G (p.Glu139=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001472795] Chr12:8092709 [GRCh38]
Chr12:8245305 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.95+9C>T single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001447508] Chr12:8082392 [GRCh38]
Chr12:8234988 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.214G>T (p.Ala72Ser) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001052354] Chr12:8090212 [GRCh38]
Chr12:8242808 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.794A>T (p.Gln265Leu) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001051205] Chr12:8096056 [GRCh38]
Chr12:8248652 [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
NM_015509.4(NECAP1):c.69G>A (p.Pro23=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV000964595]|not provided [RCV002066384] Chr12:8082357 [GRCh38]
Chr12:8234953 [GRCh37]
Chr12:12p13.31
benign|likely benign
NM_015509.4(NECAP1):c.727A>G (p.Thr243Ala) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV000817637] Chr12:8095651 [GRCh38]
Chr12:8248247 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.442A>G (p.Lys148Glu) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV000808615] Chr12:8092734 [GRCh38]
Chr12:8245330 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.96-4C>T single nucleotide variant not provided [RCV000994844] Chr12:8089932 [GRCh38]
Chr12:8242528 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.569C>G (p.Pro190Arg) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV000804559] Chr12:8092948 [GRCh38]
Chr12:8245544 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.11:g.(?_6945914)_(8248706_?)dup duplication Temtamy syndrome [RCV001031096] Chr12:6945914..8248706 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.546G>A (p.Gly182=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001499313] Chr12:8092925 [GRCh38]
Chr12:8245521 [GRCh37]
Chr12:12p13.31
likely benign
NC_000012.11:g.(?_6945914)_(9027627_?)dup duplication Temtamy syndrome [RCV000816630] Chr12:6945914..9027627 [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
GRCh37/hg19 12p13.31(chr12:8242561-8264933)x1 copy number loss not provided [RCV000849611] Chr12:8242561..8264933 [GRCh37]
Chr12:12p13.31
pathogenic
NM_015509.4(NECAP1):c.629T>C (p.Val210Ala) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001202655] Chr12:8093008 [GRCh38]
Chr12:8245604 [GRCh37]
Chr12:12p13.31
uncertain significance
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_015509.4(NECAP1):c.437G>T (p.Arg146Leu) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001239086] Chr12:8092729 [GRCh38]
Chr12:8245325 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.436C>T (p.Arg146Cys) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001242361] Chr12:8092728 [GRCh38]
Chr12:8245324 [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
NC_000012.12:g.(?_7689858)_(8096110_?)dup duplication Developmental and epileptic encephalopathy, 21 [RCV001032640] Chr12:7842454..8248706 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.11:g.(?_4368352)_(9027607_?)dup duplication Lymphoproliferative syndrome 2 [RCV003105682] Chr12:4368352..9027607 [GRCh37]
Chr12:12p13.32-13.31
uncertain significance
NM_015509.4(NECAP1):c.579C>A (p.Gly193=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV003107032] Chr12:8092958 [GRCh38]
Chr12:8245554 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.709G>C (p.Val237Leu) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV000896908] Chr12:8095633 [GRCh38]
Chr12:8248229 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.570G>T (p.Pro190=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV000937015] Chr12:8092949 [GRCh38]
Chr12:8245545 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.487A>G (p.Ile163Val) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001245637] Chr12:8092779 [GRCh38]
Chr12:8245375 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.492+7A>G single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001459990] Chr12:8092791 [GRCh38]
Chr12:8245387 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.489C>T (p.Ile163=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001416589]|not provided [RCV003392681] Chr12:8092781 [GRCh38]
Chr12:8245377 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.753G>T (p.Leu251Phe) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001247386] Chr12:8095677 [GRCh38]
Chr12:8248273 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.352G>A (p.Asp118Asn) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001204276]|not provided [RCV003129732] Chr12:8091819 [GRCh38]
Chr12:8244415 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.88G>A (p.Gly30Ser) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001253048] Chr12:8082376 [GRCh38]
Chr12:8234972 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.11:g.(?_6945914)_(9027627_?)dup duplication Developmental and epileptic encephalopathy, 21 [RCV001325295]|Klippel-Feil syndrome 3, autosomal dominant [RCV001301079]|Temtamy syndrome [RCV000816630]|not provided [RCV001859243] Chr12:6945914..9027627 [GRCh37]
Chr12:12p13.31
uncertain significance|no classifications from unflagged records
GRCh37/hg19 12p13.31(chr12:7755907-8436318)x3 copy number gain not provided [RCV001259128] Chr12:7755907..8436318 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.305G>A (p.Arg102His) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001319978]|Inborn genetic diseases [RCV002546072] Chr12:8091772 [GRCh38]
Chr12:8244368 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.569C>T (p.Pro190Leu) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001301972]|not provided [RCV001509421] Chr12:8092948 [GRCh38]
Chr12:8245544 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.797C>T (p.Ala266Val) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001351977] Chr12:8096059 [GRCh38]
Chr12:8248655 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.136C>T (p.Arg46Cys) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001326641] Chr12:8089976 [GRCh38]
Chr12:8242572 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.746A>G (p.Asn249Ser) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001360133] Chr12:8095670 [GRCh38]
Chr12:8248266 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.812A>G (p.Asn271Ser) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001345720] Chr12:8096074 [GRCh38]
Chr12:8248670 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.734T>C (p.Val245Ala) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001368719] Chr12:8095658 [GRCh38]
Chr12:8248254 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.83A>T (p.Asn28Ile) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001324305] Chr12:8082371 [GRCh38]
Chr12:8234967 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.758G>A (p.Gly253Glu) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001323734] Chr12:8095682 [GRCh38]
Chr12:8248278 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.244G>A (p.Val82Met) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001327420] Chr12:8090242 [GRCh38]
Chr12:8242838 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.13T>C (p.Leu5=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001487669] Chr12:8082301 [GRCh38]
Chr12:8234897 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.516T>C (p.Gly172=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001455774] Chr12:8092895 [GRCh38]
Chr12:8245491 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.714G>A (p.Thr238=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001407773] Chr12:8095638 [GRCh38]
Chr12:8248234 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.804G>A (p.Gln268=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001429173] Chr12:8096066 [GRCh38]
Chr12:8248662 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.18G>A (p.Glu6=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001429385] Chr12:8082306 [GRCh38]
Chr12:8234902 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.648G>T (p.Pro216=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001445810] Chr12:8093027 [GRCh38]
Chr12:8245623 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.594C>T (p.Pro198=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001502001] Chr12:8092973 [GRCh38]
Chr12:8245569 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.315C>T (p.Phe105=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001439237] Chr12:8091782 [GRCh38]
Chr12:8244378 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.180C>T (p.Leu60=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001454720] Chr12:8090020 [GRCh38]
Chr12:8242616 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.383+10G>C single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001479256] Chr12:8091860 [GRCh38]
Chr12:8244456 [GRCh37]
Chr12:12p13.31
likely benign
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
NM_015509.4(NECAP1):c.581A>T (p.Lys194Ile) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002045339] Chr12:8092960 [GRCh38]
Chr12:8245556 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.137G>A (p.Arg46His) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001949089] Chr12:8089977 [GRCh38]
Chr12:8242573 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
NM_015509.4(NECAP1):c.653C>T (p.Ser218Phe) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001971175] Chr12:8093032 [GRCh38]
Chr12:8245628 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.11:g.(?_6438478)_(8756953_?)dup duplication not provided [RCV001970781] Chr12:6438478..8756953 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.653C>A (p.Ser218Tyr) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001909839] Chr12:8093032 [GRCh38]
Chr12:8245628 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.772G>A (p.Ala258Thr) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001907731] Chr12:8095696 [GRCh38]
Chr12:8248292 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.449A>G (p.Asp150Gly) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001966720] Chr12:8092741 [GRCh38]
Chr12:8245337 [GRCh37]
Chr12:12p13.31
uncertain significance
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 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_015509.4(NECAP1):c.131C>A (p.Thr44Asn) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001872932] Chr12:8089971 [GRCh38]
Chr12:8242567 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.492+3G>A single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002044533] Chr12:8092787 [GRCh38]
Chr12:8245383 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.647C>T (p.Pro216Leu) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001986691] Chr12:8093026 [GRCh38]
Chr12:8245622 [GRCh37]
Chr12:12p13.31
uncertain significance
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
NM_015509.4(NECAP1):c.430G>A (p.Asp144Asn) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002044158] Chr12:8092722 [GRCh38]
Chr12:8245318 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.196+12G>A single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001912312] Chr12:8090048 [GRCh38]
Chr12:8242644 [GRCh37]
Chr12:12p13.31
likely benign|uncertain significance
NM_015509.4(NECAP1):c.422A>G (p.Gln141Arg) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002005539] Chr12:8092714 [GRCh38]
Chr12:8245310 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.95+16C>T single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001894749] Chr12:8082399 [GRCh38]
Chr12:8234995 [GRCh37]
Chr12:12p13.31
likely benign|uncertain significance
NM_015509.4(NECAP1):c.595C>T (p.Pro199Ser) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002042378] Chr12:8092974 [GRCh38]
Chr12:8245570 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.779G>A (p.Ser260Asn) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002038537] Chr12:8095703 [GRCh38]
Chr12:8248299 [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_015509.4(NECAP1):c.178C>T (p.Leu60Phe) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001961692] Chr12:8090018 [GRCh38]
Chr12:8242614 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.818T>C (p.Val273Ala) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002013331] Chr12:8096080 [GRCh38]
Chr12:8248676 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.539G>A (p.Arg180Lys) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002047347] Chr12:8092918 [GRCh38]
Chr12:8245514 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.217C>T (p.Pro73Ser) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001999566] Chr12:8090215 [GRCh38]
Chr12:8242811 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.68C>T (p.Pro23Leu) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002018795] Chr12:8082356 [GRCh38]
Chr12:8234952 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.674C>G (p.Ala225Gly) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002038813] Chr12:8093053 [GRCh38]
Chr12:8245649 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.11:g.(?_8248177)_(8248319_?)del deletion Developmental and epileptic encephalopathy, 21 [RCV001923011] Chr12:8248177..8248319 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.11:g.(?_6978008)_(9010204_?)dup duplication Peroxisome biogenesis disorder 2B [RCV001877402] Chr12:6978008..9010204 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.713C>T (p.Thr238Met) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001916589] Chr12:8095637 [GRCh38]
Chr12:8248233 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.562C>A (p.Pro188Thr) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001933957] Chr12:8092941 [GRCh38]
Chr12:8245537 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.437G>A (p.Arg146His) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001899928]|Inborn genetic diseases [RCV003355578] Chr12:8092729 [GRCh38]
Chr12:8245325 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.11A>G (p.Glu4Gly) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001917394] Chr12:8082299 [GRCh38]
Chr12:8234895 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.77C>T (p.Ala26Val) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001973808] Chr12:8082365 [GRCh38]
Chr12:8234961 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.518C>T (p.Ala173Val) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001878744]|Inborn genetic diseases [RCV002551638] Chr12:8092897 [GRCh38]
Chr12:8245493 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.161A>C (p.Lys54Thr) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001922445] Chr12:8090001 [GRCh38]
Chr12:8242597 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.376C>T (p.His126Tyr) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002014403]|Inborn genetic diseases [RCV002545568] Chr12:8091843 [GRCh38]
Chr12:8244439 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.346G>T (p.Ala116Ser) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001981187] Chr12:8091813 [GRCh38]
Chr12:8244409 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.790A>G (p.Asn264Asp) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002048326] Chr12:8096052 [GRCh38]
Chr12:8248648 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.331A>G (p.Thr111Ala) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002035660] Chr12:8091798 [GRCh38]
Chr12:8244394 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.782C>G (p.Ser261Cys) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002009506] Chr12:8096044 [GRCh38]
Chr12:8248640 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.640C>T (p.Pro214Ser) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001978384] Chr12:8093019 [GRCh38]
Chr12:8245615 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.100T>A (p.Ser34Thr) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001996084] Chr12:8089940 [GRCh38]
Chr12:8242536 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.195A>G (p.Ser65=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV001974839] Chr12:8090035 [GRCh38]
Chr12:8242631 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.197-12C>T single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002089769] Chr12:8090183 [GRCh38]
Chr12:8242779 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.302-11G>T single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002125222] Chr12:8091758 [GRCh38]
Chr12:8244354 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.196+20C>G single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002208794] Chr12:8090056 [GRCh38]
Chr12:8242652 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.196+12G>C single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002170199] Chr12:8090048 [GRCh38]
Chr12:8242644 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.302-11G>A single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002107754] Chr12:8091758 [GRCh38]
Chr12:8244354 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.676+18A>G single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002072653] Chr12:8093073 [GRCh38]
Chr12:8245669 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.648G>A (p.Pro216=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002111158] Chr12:8093027 [GRCh38]
Chr12:8245623 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.301+14G>A single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002108005] Chr12:8090313 [GRCh38]
Chr12:8242909 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.196+11C>T single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002091658] Chr12:8090047 [GRCh38]
Chr12:8242643 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.95+11C>T single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002104366] Chr12:8082394 [GRCh38]
Chr12:8234990 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.93C>T (p.Tyr31=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002188284] Chr12:8082381 [GRCh38]
Chr12:8234977 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.723A>G (p.Ala241=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002213114] Chr12:8095647 [GRCh38]
Chr12:8248243 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.197-8T>C single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002133171] Chr12:8090187 [GRCh38]
Chr12:8242783 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.126T>C (p.Asp42=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002145339] Chr12:8089966 [GRCh38]
Chr12:8242562 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.492+19A>G single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002079111] Chr12:8092803 [GRCh38]
Chr12:8245399 [GRCh37]
Chr12:12p13.31
benign
NM_015509.4(NECAP1):c.196+19C>T single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002094749] Chr12:8090055 [GRCh38]
Chr12:8242651 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.372G>A (p.Gln124=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002134824] Chr12:8091839 [GRCh38]
Chr12:8244435 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.302-13A>G single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002145783] Chr12:8091756 [GRCh38]
Chr12:8244352 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.39G>T (p.Val13=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002177084] Chr12:8082327 [GRCh38]
Chr12:8234923 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.383+11dup duplication Developmental and epileptic encephalopathy, 21 [RCV002104088] Chr12:8091860..8091861 [GRCh38]
Chr12:8244456..8244457 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.780-13T>C single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002098460] Chr12:8096029 [GRCh38]
Chr12:8248625 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.492+15T>C single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002158948] Chr12:8092799 [GRCh38]
Chr12:8245395 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.492+18A>T single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002120891] Chr12:8092802 [GRCh38]
Chr12:8245398 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.570G>A (p.Pro190=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002183433] Chr12:8092949 [GRCh38]
Chr12:8245545 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.301+15A>C single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002217286] Chr12:8090314 [GRCh38]
Chr12:8242910 [GRCh37]
Chr12:12p13.31
likely benign
NC_000012.11:g.(?_8211333)_(8248686_?)dup duplication Developmental and epileptic encephalopathy, 21 [RCV003119612] Chr12:8211333..8248686 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.515G>T (p.Gly172Val) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002297538] Chr12:8092894 [GRCh38]
Chr12:8245490 [GRCh37]
Chr12:12p13.31
uncertain significance
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
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_015509.4(NECAP1):c.384-12G>A single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002838333] Chr12:8092664 [GRCh38]
Chr12:8245260 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.95+10C>G single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV003032750] Chr12:8082393 [GRCh38]
Chr12:8234989 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.258_273del (p.Asp87fs) deletion Developmental and epileptic encephalopathy, 21 [RCV002819076] Chr12:8090254..8090269 [GRCh38]
Chr12:8242850..8242865 [GRCh37]
Chr12:12p13.31
pathogenic
NM_015509.4(NECAP1):c.95+4C>T single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002690526] Chr12:8082387 [GRCh38]
Chr12:8234983 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.586A>C (p.Thr196Pro) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002903624] Chr12:8092965 [GRCh38]
Chr12:8245561 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.383+13del deletion Developmental and epileptic encephalopathy, 21 [RCV002816215] Chr12:8091862 [GRCh38]
Chr12:8244458 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.479A>C (p.Lys160Thr) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002755506] Chr12:8092771 [GRCh38]
Chr12:8245367 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.706C>T (p.Pro236Ser) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002730911]|Inborn genetic diseases [RCV002730912] Chr12:8095630 [GRCh38]
Chr12:8248226 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.21C>T (p.Tyr7=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002904884] Chr12:8082309 [GRCh38]
Chr12:8234905 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.383+13T>A single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002816216] Chr12:8091863 [GRCh38]
Chr12:8244459 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.555C>T (p.Ser185=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002889661] Chr12:8092934 [GRCh38]
Chr12:8245530 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.765C>T (p.Phe255=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002871012] Chr12:8095689 [GRCh38]
Chr12:8248285 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.117C>T (p.Asp39=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV003002643] Chr12:8089957 [GRCh38]
Chr12:8242553 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.30G>A (p.Val10=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002847261] Chr12:8082318 [GRCh38]
Chr12:8234914 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.26C>G (p.Ser9Cys) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002932284] Chr12:8082314 [GRCh38]
Chr12:8234910 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.197-19T>C single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002918480] Chr12:8090176 [GRCh38]
Chr12:8242772 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.197-16T>C single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002668093] Chr12:8090179 [GRCh38]
Chr12:8242775 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.337C>T (p.Arg113Trp) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002643693] Chr12:8091804 [GRCh38]
Chr12:8244400 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.228A>G (p.Gln76=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002802031] Chr12:8090226 [GRCh38]
Chr12:8242822 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.398A>G (p.Glu133Gly) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002828087] Chr12:8092690 [GRCh38]
Chr12:8245286 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.542G>C (p.Gly181Ala) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV003005972] Chr12:8092921 [GRCh38]
Chr12:8245517 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.302-5C>T single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002642407] Chr12:8091764 [GRCh38]
Chr12:8244360 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.12G>A (p.Glu4=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV003057294] Chr12:8082300 [GRCh38]
Chr12:8234896 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.427A>G (p.Met143Val) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV003059132] Chr12:8092719 [GRCh38]
Chr12:8245315 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.8C>G (p.Thr3Ser) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002676555] Chr12:8082296 [GRCh38]
Chr12:8234892 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.236G>A (p.Gly79Asp) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV003048715] Chr12:8090234 [GRCh38]
Chr12:8242830 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.88G>C (p.Gly30Arg) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV003026854] Chr12:8082376 [GRCh38]
Chr12:8234972 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.241G>T (p.Ala81Ser) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002628605] Chr12:8090239 [GRCh38]
Chr12:8242835 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.301+13G>A single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV003064525] Chr12:8090312 [GRCh38]
Chr12:8242908 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.676+10G>A single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002922354] Chr12:8093065 [GRCh38]
Chr12:8245661 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.197-5G>C single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002671303] Chr12:8090190 [GRCh38]
Chr12:8242786 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.677-17del deletion Developmental and epileptic encephalopathy, 21 [RCV002898756] Chr12:8095581 [GRCh38]
Chr12:8248177 [GRCh37]
Chr12:12p13.31
benign
NM_015509.4(NECAP1):c.531G>A (p.Arg177=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002676453] Chr12:8092910 [GRCh38]
Chr12:8245506 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.81C>T (p.Ser27=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV003090102] Chr12:8082369 [GRCh38]
Chr12:8234965 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.302-12C>G single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV003091479] Chr12:8091757 [GRCh38]
Chr12:8244353 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.677-12C>T single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV003086132] Chr12:8095589 [GRCh38]
Chr12:8248185 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.95+3A>T single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV003070212] Chr12:8082386 [GRCh38]
Chr12:8234982 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.515G>A (p.Gly172Asp) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV003052403] Chr12:8092894 [GRCh38]
Chr12:8245490 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.573A>G (p.Pro191=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV003071545] Chr12:8092952 [GRCh38]
Chr12:8245548 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.51C>T (p.Val17=) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002943392] Chr12:8082339 [GRCh38]
Chr12:8234935 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.700C>T (p.Pro234Ser) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV003049735] Chr12:8095624 [GRCh38]
Chr12:8248220 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.664G>A (p.Gly222Ser) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV003070134] Chr12:8093043 [GRCh38]
Chr12:8245639 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.338G>A (p.Arg113Gln) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV003073066] Chr12:8091805 [GRCh38]
Chr12:8244401 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.709G>A (p.Val237Ile) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV002653957] Chr12:8095633 [GRCh38]
Chr12:8248229 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.38_39dup (p.Lys14Ter) microsatellite Developmental and epileptic encephalopathy, 21 [RCV003140599] Chr12:8082319..8082320 [GRCh38]
Chr12:8234915..8234916 [GRCh37]
Chr12:12p13.31
likely pathogenic
NM_015509.4(NECAP1):c.205T>C (p.Phe69Leu) single nucleotide variant Inborn genetic diseases [RCV003203484] Chr12:8090203 [GRCh38]
Chr12:8242799 [GRCh37]
Chr12:12p13.31
uncertain significance
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_015509.4(NECAP1):c.456C>G (p.Gly152=) single nucleotide variant not provided [RCV003396200] Chr12:8092748 [GRCh38]
Chr12:8245344 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.717A>G (p.Thr239=) single nucleotide variant not provided [RCV003396201] Chr12:8095641 [GRCh38]
Chr12:8248237 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.565C>A (p.Pro189Thr) single nucleotide variant NECAP1-related condition [RCV003421096] Chr12:8092944 [GRCh38]
Chr12:8245540 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.84C>T (p.Asn28=) single nucleotide variant not provided [RCV003396199] Chr12:8082372 [GRCh38]
Chr12:8234968 [GRCh37]
Chr12:12p13.31
likely benign
NM_015509.4(NECAP1):c.291G>T (p.Gln97His) single nucleotide variant not specified [RCV003489585] Chr12:8090289 [GRCh38]
Chr12:8242885 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.822G>C (p.Gln274His) single nucleotide variant Developmental and epileptic encephalopathy, 21 [RCV003831209] Chr12:8096084 [GRCh38]
Chr12:8248680 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_015509.4(NECAP1):c.780-12_780-10del deletion Developmental and epileptic encephalopathy, 21 [RCV003879025] Chr12:8096028..8096030 [GRCh38]
Chr12:8248624..8248626 [GRCh37]
Chr12:12p13.31
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2252
Count of miRNA genes:922
Interacting mature miRNAs:1097
Transcripts:ENST00000339754, ENST00000450991, ENST00000537796, ENST00000540083, ENST00000541948, ENST00000542095, ENST00000544891, ENST00000545807, ENST00000546181
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
RH103823  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37128,233,080 - 8,233,204UniSTSGRCh37
Build 36128,124,347 - 8,124,471RGDNCBI36
Celera129,810,150 - 9,810,274RGD
Cytogenetic Map12p13.31UniSTS
HuRef128,044,807 - 8,044,931UniSTS
GeneMap99-GB4 RH Map1249.28UniSTS
G20881  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37737,624,972 - 37,625,199UniSTSGRCh37
Build 36737,591,497 - 37,591,724RGDNCBI36
Celera744,061,099 - 44,061,327UniSTS
Celera737,609,405 - 37,609,632RGD
Cytogenetic Map12p13.31UniSTS
HuRef737,504,995 - 37,505,222UniSTS
CRA_TCAGchr7v2737,662,586 - 37,662,813UniSTS
A006J36  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37737,624,972 - 37,625,199UniSTSGRCh37
Build 36737,591,497 - 37,591,724RGDNCBI36
Celera737,609,405 - 37,609,632RGD
Celera744,061,099 - 44,061,327UniSTS
Cytogenetic Map12p13.31UniSTS
HuRef737,504,995 - 37,505,222UniSTS
CRA_TCAGchr7v2737,662,586 - 37,662,813UniSTS
GeneMap99-GB4 RH Map7168.09UniSTS
NCBI RH Map7559.0UniSTS


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 2389 2131 1503 407 1493 251 3641 1059 3442 345 1429 1608 172 1 1200 2074 5 2
Low 50 860 223 217 458 214 716 1138 292 74 31 5 3 4 714 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_024260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC006511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI688397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC084551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110876 (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
  CQ782887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ784000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA496321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000339754   ⟹   ENSP00000341737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,082,274 - 8,097,881 (+)Ensembl
RefSeq Acc Id: ENST00000450991   ⟹   ENSP00000401963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,082,268 - 8,097,769 (+)Ensembl
RefSeq Acc Id: ENST00000537796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,082,280 - 8,097,759 (+)Ensembl
RefSeq Acc Id: ENST00000540083   ⟹   ENSP00000439319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,082,787 - 8,095,700 (+)Ensembl
RefSeq Acc Id: ENST00000541948   ⟹   ENSP00000440658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,082,281 - 8,095,656 (+)Ensembl
RefSeq Acc Id: ENST00000542095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,082,255 - 8,093,818 (+)Ensembl
RefSeq Acc Id: ENST00000544891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,082,280 - 8,097,771 (+)Ensembl
RefSeq Acc Id: ENST00000545807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,082,308 - 8,097,411 (+)Ensembl
RefSeq Acc Id: ENST00000546181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,082,228 - 8,090,815 (+)Ensembl
RefSeq Acc Id: ENST00000638237   ⟹   ENSP00000492254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,082,266 - 8,097,768 (+)Ensembl
RefSeq Acc Id: ENST00000638334   ⟹   ENSP00000492472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,092,881 - 8,096,153 (+)Ensembl
RefSeq Acc Id: ENST00000638787   ⟹   ENSP00000491384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,082,280 - 8,097,511 (+)Ensembl
RefSeq Acc Id: ENST00000638883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,082,291 - 8,097,735 (+)Ensembl
RefSeq Acc Id: ENST00000639038   ⟹   ENSP00000492452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,082,271 - 8,097,738 (+)Ensembl
RefSeq Acc Id: ENST00000639071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,082,274 - 8,097,738 (+)Ensembl
RefSeq Acc Id: ENST00000639167   ⟹   ENSP00000490999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,082,280 - 8,097,738 (+)Ensembl
RefSeq Acc Id: ENST00000639276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,082,268 - 8,097,729 (+)Ensembl
RefSeq Acc Id: ENST00000639595   ⟹   ENSP00000492560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,082,271 - 8,097,738 (+)Ensembl
RefSeq Acc Id: ENST00000639811   ⟹   ENSP00000492554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,082,280 - 8,097,531 (+)Ensembl
RefSeq Acc Id: ENST00000639841   ⟹   ENSP00000491786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,091,842 - 8,097,727 (+)Ensembl
RefSeq Acc Id: ENST00000639955   ⟹   ENSP00000491067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,076,939 - 8,097,859 (+)Ensembl
RefSeq Acc Id: ENST00000640072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,088,890 - 8,097,767 (+)Ensembl
RefSeq Acc Id: ENST00000640091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,095,278 - 8,097,730 (+)Ensembl
RefSeq Acc Id: ENST00000640099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,082,277 - 8,097,738 (+)Ensembl
RefSeq Acc Id: ENST00000640209   ⟹   ENSP00000492613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,082,277 - 8,097,761 (+)Ensembl
RefSeq Acc Id: ENST00000640481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,082,300 - 8,097,735 (+)Ensembl
RefSeq Acc Id: ENST00000640648
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl128,081,895 - 8,097,740 (+)Ensembl
RefSeq Acc Id: NM_015509   ⟹   NP_056324
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38128,082,274 - 8,097,881 (+)NCBI
GRCh37128,234,807 - 8,250,373 (+)RGD
Build 36127,989,001 - 8,141,634 (+)NCBI Archive
Celera129,811,877 - 9,827,432 (+)RGD
HuRef128,046,534 - 8,062,074 (+)RGD
CHM1_1128,234,026 - 8,249,598 (+)NCBI
T2T-CHM13v2.0128,095,874 - 8,111,478 (+)NCBI
Sequence:
RefSeq Acc Id: NR_024260
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38128,082,274 - 8,097,881 (+)NCBI
GRCh37128,234,807 - 8,250,373 (+)RGD
Celera129,811,877 - 9,827,432 (+)RGD
HuRef128,046,534 - 8,062,074 (+)RGD
CHM1_1128,234,026 - 8,249,598 (+)NCBI
T2T-CHM13v2.0128,095,874 - 8,111,478 (+)NCBI
Sequence:
RefSeq Acc Id: NP_056324   ⟸   NM_015509
- UniProtKB: Q9BU52 (UniProtKB/Swiss-Prot),   Q8NCB0 (UniProtKB/Swiss-Prot),   Q8N153 (UniProtKB/Swiss-Prot),   Q6NWY6 (UniProtKB/Swiss-Prot),   Q5XG95 (UniProtKB/Swiss-Prot),   Q2NL73 (UniProtKB/Swiss-Prot),   Q9Y407 (UniProtKB/Swiss-Prot),   Q8NC96 (UniProtKB/Swiss-Prot),   A0A1W2PR09 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000440658   ⟸   ENST00000541948
RefSeq Acc Id: ENSP00000401963   ⟸   ENST00000450991
RefSeq Acc Id: ENSP00000491384   ⟸   ENST00000638787
RefSeq Acc Id: ENSP00000492472   ⟸   ENST00000638334
RefSeq Acc Id: ENSP00000492254   ⟸   ENST00000638237
RefSeq Acc Id: ENSP00000491067   ⟸   ENST00000639955
RefSeq Acc Id: ENSP00000492554   ⟸   ENST00000639811
RefSeq Acc Id: ENSP00000491786   ⟸   ENST00000639841
RefSeq Acc Id: ENSP00000490999   ⟸   ENST00000639167
RefSeq Acc Id: ENSP00000492452   ⟸   ENST00000639038
RefSeq Acc Id: ENSP00000492560   ⟸   ENST00000639595
RefSeq Acc Id: ENSP00000341737   ⟸   ENST00000339754
RefSeq Acc Id: ENSP00000492613   ⟸   ENST00000640209
RefSeq Acc Id: ENSP00000439319   ⟸   ENST00000540083
Protein Domains
NECAP PHear

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NC96-F1-model_v2 AlphaFold Q8NC96 1-275 view protein structure

Promoters
RGD ID:7223063
Promoter ID:EPDNEW_H17276
Type:initiation region
Name:NECAP1_1
Description:NECAP endocytosis associated 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38128,082,277 - 8,082,337EPDNEW
RGD ID:6790592
Promoter ID:HG_KWN:14924
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:NM_015509,   NR_024260,   UC001QTW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36128,125,206 - 8,126,222 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24539 AgrOrtholog
COSMIC NECAP1 COSMIC
Ensembl Genes ENSG00000089818 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000339754 ENTREZGENE
  ENST00000339754.11 UniProtKB/Swiss-Prot
  ENST00000450991 ENTREZGENE
  ENST00000450991.6 UniProtKB/Swiss-Prot
  ENST00000540083.1 UniProtKB/TrEMBL
  ENST00000541948.2 UniProtKB/TrEMBL
  ENST00000638237.1 UniProtKB/TrEMBL
  ENST00000638334.1 UniProtKB/TrEMBL
  ENST00000638787.1 UniProtKB/TrEMBL
  ENST00000639038.1 UniProtKB/TrEMBL
  ENST00000639167.1 UniProtKB/TrEMBL
  ENST00000639595.1 UniProtKB/TrEMBL
  ENST00000639811.1 UniProtKB/TrEMBL
  ENST00000639841.1 UniProtKB/TrEMBL
  ENST00000639955.1 UniProtKB/Swiss-Prot
  ENST00000640209.1 UniProtKB/TrEMBL
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000089818 GTEx
HGNC ID HGNC:24539 ENTREZGENE
Human Proteome Map NECAP1 Human Proteome Map
InterPro NECAP_PHear UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:25977 UniProtKB/Swiss-Prot
NCBI Gene 25977 ENTREZGENE
OMIM 611623 OMIM
PANTHER ADAPTIN EAR-BINDING COAT-ASSOCIATED PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP-BINDING CASSETTE ABC TRANSPORTER-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF1681 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671267 PharmGKB
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1W2PNT6_HUMAN UniProtKB/TrEMBL
  A0A1W2PPF5_HUMAN UniProtKB/TrEMBL
  A0A1W2PQK9_HUMAN UniProtKB/TrEMBL
  A0A1W2PR09 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PR27_HUMAN UniProtKB/TrEMBL
  A0A1W2PRL5_HUMAN UniProtKB/TrEMBL
  A0A1W2PRM0_HUMAN UniProtKB/TrEMBL
  A0A1W2PRQ7_HUMAN UniProtKB/TrEMBL
  A0A1W2PRW5_HUMAN UniProtKB/TrEMBL
  A8K3C2_HUMAN UniProtKB/TrEMBL
  F5GYH1_HUMAN UniProtKB/TrEMBL
  F5H2U7_HUMAN UniProtKB/TrEMBL
  NECP1_HUMAN UniProtKB/Swiss-Prot
  Q2NL73 ENTREZGENE
  Q5XG95 ENTREZGENE
  Q6NWY6 ENTREZGENE
  Q8N153 ENTREZGENE
  Q8NC96 ENTREZGENE
  Q8NCB0 ENTREZGENE
  Q9BU52 ENTREZGENE
  Q9Y407 ENTREZGENE
UniProt Secondary Q2NL73 UniProtKB/Swiss-Prot
  Q5XG95 UniProtKB/Swiss-Prot
  Q6NWY6 UniProtKB/Swiss-Prot
  Q8N153 UniProtKB/Swiss-Prot
  Q8NCB0 UniProtKB/Swiss-Prot
  Q9BU52 UniProtKB/Swiss-Prot
  Q9Y407 UniProtKB/Swiss-Prot