Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | developmental and epileptic encephalopathy 21 | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
|
Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | developmental and epileptic encephalopathy 21 | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
|
|
|
|
|
|
|
|
|
|
|
# | 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 |
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 |
NECAP1 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Necap1 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Necap1 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Necap1 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
NECAP1 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
NECAP1 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Necap1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
NECAP1 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
NECAP1 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Necap1 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in NECAP1
161 total 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 |
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. |
RH103823 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
G20881 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
A006J36 |
|
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 |
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: |
|
RefSeq Acc Id: | ENST00000450991 ⟹ ENSP00000401963 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000537796 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000540083 ⟹ ENSP00000439319 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000541948 ⟹ ENSP00000440658 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000542095 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000544891 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000545807 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000546181 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000638237 ⟹ ENSP00000492254 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000638334 ⟹ ENSP00000492472 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000638787 ⟹ ENSP00000491384 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000638883 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000639038 ⟹ ENSP00000492452 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000639071 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000639167 ⟹ ENSP00000490999 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000639276 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000639595 ⟹ ENSP00000492560 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000639811 ⟹ ENSP00000492554 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000639841 ⟹ ENSP00000491786 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000639955 ⟹ ENSP00000491067 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000640072 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000640091 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000640099 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000640209 ⟹ ENSP00000492613 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000640481 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000640648 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_015509 ⟹ NP_056324 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_024260 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_056324 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAH02888 | (Get FASTA) | NCBI Sequence Viewer |
AAH67367 | (Get FASTA) | NCBI Sequence Viewer | |
AAH84551 | (Get FASTA) | NCBI Sequence Viewer | |
AAI10877 | (Get FASTA) | NCBI Sequence Viewer | |
BAC11250 | (Get FASTA) | NCBI Sequence Viewer | |
BAC11264 | (Get FASTA) | NCBI Sequence Viewer | |
BAC11296 | (Get FASTA) | NCBI Sequence Viewer | |
BAC11352 | (Get FASTA) | NCBI Sequence Viewer | |
BAF83226 | (Get FASTA) | NCBI Sequence Viewer | |
BAG64672 | (Get FASTA) | NCBI Sequence Viewer | |
CAB43373 | (Get FASTA) | NCBI Sequence Viewer | |
CAF86114 | (Get FASTA) | NCBI Sequence Viewer | |
CAF86963 | (Get FASTA) | NCBI Sequence Viewer | |
EAW88636 | (Get FASTA) | NCBI Sequence Viewer | |
EAW88637 | (Get FASTA) | NCBI Sequence Viewer | |
EAW88638 | (Get FASTA) | NCBI Sequence Viewer | |
EAW88639 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000341737 | ||
ENSP00000341737.5 | |||
ENSP00000401963.2 | |||
ENSP00000439319.1 | |||
ENSP00000440658.2 | |||
ENSP00000490999.1 | |||
ENSP00000491067.1 | |||
ENSP00000491384.1 | |||
ENSP00000491786.1 | |||
ENSP00000492254.1 | |||
ENSP00000492452.1 | |||
ENSP00000492472.1 | |||
ENSP00000492554.1 | |||
ENSP00000492560.1 | |||
ENSP00000492613.1 | |||
GenBank Protein | Q8NC96 | (Get FASTA) | NCBI Sequence Viewer |
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 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8NC96-F1-model_v2 | AlphaFold | Q8NC96 | 1-275 | view protein structure |
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: |
|
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: |
|
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 |