NBAS (NBAS subunit of NRZ tethering complex) - Rat Genome Database

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Gene: NBAS (NBAS subunit of NRZ tethering complex) Homo sapiens
Analyze
Symbol: NBAS
Name: NBAS subunit of NRZ tethering complex
RGD ID: 1604810
HGNC Page HGNC
Description: Enables SNARE binding activity. Involved in negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; nuclear-transcribed mRNA catabolic process; and retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum. Located in endoplasmic reticulum. Part of Dsl1/NZR complex. Implicated in infantile liver failure syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp586G1219; FLJ40407; ILFS2; NAG; NAG/BC035112 fusion; NAG/FAM49A fusion; neuroblastoma amplified sequence; neuroblastoma-amplified gene protein; neuroblastoma-amplified protein; neuroblastoma-amplified sequence; SOPH
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl215,166,914 - 15,561,334 (-)EnsemblGRCh38hg38GRCh38
GRCh38214,998,067 - 15,561,344 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37215,307,040 - 15,701,458 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36215,224,483 - 15,618,905 (-)NCBINCBI36hg18NCBI36
Celera215,224,679 - 15,619,170 (-)NCBI
Cytogenetic Map2p24.3NCBI
HuRef215,157,911 - 15,552,718 (-)NCBIHuRef
CHM1_1215,236,546 - 15,631,326 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function
SNARE binding  (IBA,IDA)

References

Additional References at PubMed
PMID:9926938   PMID:11329013   PMID:11954550   PMID:12477932   PMID:12706883   PMID:14702039   PMID:16169070   PMID:17028906   PMID:19369418   PMID:19407829   PMID:19946888   PMID:20360068  
PMID:20379614   PMID:20462495   PMID:20577004   PMID:20585324   PMID:21697133   PMID:21844884   PMID:21873635   PMID:23828042   PMID:23991058   PMID:25277244   PMID:25921289   PMID:26073778  
PMID:26186194   PMID:26286438   PMID:26496610   PMID:27789416   PMID:28380382   PMID:28514442   PMID:28576691   PMID:28629372   PMID:28692057   PMID:29369590   PMID:29395067   PMID:29507755  
PMID:29509190   PMID:29929043   PMID:29955894   PMID:30021884   PMID:30575818   PMID:30825388   PMID:30833792   PMID:31006538   PMID:31056421   PMID:31091453   PMID:31586073   PMID:32146038  
PMID:32297715   PMID:32694731   PMID:32788342   PMID:32877691   PMID:33005030   PMID:33542026   PMID:33707149   PMID:33957083   PMID:34079125  


Genomics

Comparative Map Data
NBAS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl215,166,914 - 15,561,334 (-)EnsemblGRCh38hg38GRCh38
GRCh38214,998,067 - 15,561,344 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37215,307,040 - 15,701,458 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36215,224,483 - 15,618,905 (-)NCBINCBI36hg18NCBI36
Celera215,224,679 - 15,619,170 (-)NCBI
Cytogenetic Map2p24.3NCBI
HuRef215,157,911 - 15,552,718 (-)NCBIHuRef
CHM1_1215,236,546 - 15,631,326 (-)NCBICHM1_1
Nbas
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391213,319,102 - 13,687,381 (+)NCBIGRCm39mm39
GRCm39 Ensembl1213,319,134 - 13,633,812 (+)Ensembl
GRCm381213,269,101 - 13,637,380 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1213,269,133 - 13,583,811 (+)EnsemblGRCm38mm10GRCm38
MGSCv371213,275,933 - 13,590,617 (+)NCBIGRCm37mm9NCBIm37
MGSCv361213,331,037 - 13,645,575 (+)NCBImm8
Celera1213,613,765 - 13,933,105 (+)NCBICelera
Cytogenetic Map12A1.1NCBI
Nbas
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2636,048,357 - 36,353,206 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl636,048,191 - 36,352,984 (+)Ensembl
Rnor_6.0638,474,773 - 38,777,146 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl638,474,804 - 38,777,806 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0647,240,400 - 47,541,490 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0646,936,050 - 46,954,452 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4636,846,485 - 37,159,552 (+)NCBIRGSC3.4rn4RGSC3.4
Celera635,410,606 - 35,711,396 (+)NCBICelera
Cytogenetic Map6q15NCBI
Nbas
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554878,894,187 - 9,073,663 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554878,894,403 - 9,073,535 (-)NCBIChiLan1.0ChiLan1.0
NBAS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A15,293,512 - 15,685,820 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A15,293,512 - 15,685,820 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A15,159,193 - 15,552,121 (-)NCBIMhudiblu_PPA_v0panPan3
NBAS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11711,091,536 - 11,410,284 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1711,091,543 - 11,430,839 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1711,034,754 - 11,353,331 (-)NCBI
ROS_Cfam_1.01711,218,973 - 11,538,024 (-)NCBI
UMICH_Zoey_3.11711,079,978 - 11,397,685 (-)NCBI
UNSW_CanFamBas_1.01711,089,518 - 11,408,009 (-)NCBI
UU_Cfam_GSD_1.01711,112,793 - 11,432,313 (-)NCBI
Nbas
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629255,598,394 - 55,896,621 (-)NCBI
SpeTri2.0NW_00493649314,940,592 - 15,241,209 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NBAS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3121,882,743 - 122,242,327 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13121,882,734 - 122,242,325 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23130,558,729 - 130,705,844 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NBAS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11492,045,416 - 92,475,079 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1492,078,045 - 92,474,944 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604519,776,352 - 20,189,451 (-)NCBIVero_WHO_p1.0
Nbas
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624865937,495 - 1,208,663 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH66856  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,939,411 - 12,939,565UniSTSGRCh37
GRCh37215,446,941 - 15,447,094UniSTSGRCh37
Build 36215,364,392 - 15,364,545RGDNCBI36
Celera312,877,698 - 12,877,852UniSTS
Celera215,364,592 - 15,364,745RGD
Cytogenetic Map2p24UniSTS
Cytogenetic Map3p25.2UniSTS
HuRef312,873,314 - 12,873,468UniSTS
HuRef215,297,819 - 15,297,972UniSTS
RH12241  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37215,307,044 - 15,307,221UniSTSGRCh37
Build 36215,224,495 - 15,224,672RGDNCBI36
Celera215,224,691 - 15,224,868RGD
Cytogenetic Map2p24UniSTS
HuRef215,157,923 - 15,158,100UniSTS
GeneMap99-GB4 RH Map274.74UniSTS
HSC08G032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,939,401 - 12,939,603UniSTSGRCh37
GRCh37215,446,931 - 15,447,132UniSTSGRCh37
Build 36215,364,382 - 15,364,583RGDNCBI36
Celera215,364,582 - 15,364,783RGD
Celera312,877,688 - 12,877,890UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map2p24UniSTS
HuRef215,297,809 - 15,298,010UniSTS
HuRef312,873,304 - 12,873,506UniSTS
TNG Radiation Hybrid Map39056.0UniSTS
GeneMap99-GB4 RH Map354.92UniSTS
Whitehead-RH Map358.6UniSTS
NCBI RH Map3132.9UniSTS
D15S954  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,939,482 - 12,939,537UniSTSGRCh37
GRCh37215,447,012 - 15,447,066UniSTSGRCh37
Build 36215,364,463 - 15,364,517RGDNCBI36
Celera312,877,769 - 12,877,824UniSTS
Celera215,364,663 - 15,364,717RGD
Cytogenetic Map2p24UniSTS
Cytogenetic Map3p25.2UniSTS
HuRef312,873,385 - 12,873,440UniSTS
HuRef215,297,890 - 15,297,944UniSTS
SHGC-79906  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37215,498,107 - 15,498,380UniSTSGRCh37
Build 36215,415,558 - 15,415,831RGDNCBI36
Celera215,415,768 - 15,416,041RGD
Cytogenetic Map2p24UniSTS
HuRef215,348,984 - 15,349,257UniSTS
TNG Radiation Hybrid Map28798.0UniSTS
SHGC-84097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37215,417,051 - 15,417,336UniSTSGRCh37
Build 36215,334,502 - 15,334,787RGDNCBI36
Celera215,334,702 - 15,334,987RGD
Cytogenetic Map2p24UniSTS
HuRef215,267,931 - 15,268,214UniSTS
TNG Radiation Hybrid Map28813.0UniSTS
D2S2118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37215,307,115 - 15,307,223UniSTSGRCh37
Build 36215,224,566 - 15,224,674RGDNCBI36
Celera215,224,762 - 15,224,870RGD
Cytogenetic Map2p24UniSTS
HuRef215,157,994 - 15,158,102UniSTS
fj17b01.x1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37215,321,585 - 15,321,894UniSTSGRCh37
Build 36215,239,036 - 15,239,345RGDNCBI36
Celera215,239,231 - 15,239,540RGD
HuRef215,172,463 - 15,172,772UniSTS
D2S1968  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37215,307,039 - 15,307,263UniSTSGRCh37
Build 36215,224,490 - 15,224,714RGDNCBI36
Celera215,224,686 - 15,224,910RGD
Cytogenetic Map2p24UniSTS
HuRef215,157,918 - 15,158,142UniSTS
GeneMap99-GB4 RH Map255.04UniSTS
Whitehead-RH Map261.3UniSTS
Whitehead-YAC Contig Map2 UniSTS
D3S3825  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37312,939,405 - 12,939,537UniSTSGRCh37
GRCh37215,446,935 - 15,447,066UniSTSGRCh37
Build 36215,364,386 - 15,364,517RGDNCBI36
Celera215,364,586 - 15,364,717RGD
Celera312,877,692 - 12,877,824UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map2p24UniSTS
HuRef215,297,813 - 15,297,944UniSTS
HuRef312,873,308 - 12,873,440UniSTS
GeneMap99-GB4 RH Map352.69UniSTS
Whitehead-RH Map358.6UniSTS
NCBI RH Map3162.3UniSTS
B313ZH5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37215,491,826 - 15,492,087UniSTSGRCh37
Build 36215,409,277 - 15,409,538RGDNCBI36
Celera215,409,487 - 15,409,748RGD
Cytogenetic Map2p24UniSTS
HuRef215,342,713 - 15,342,964UniSTS
Whitehead-RH Map272.3UniSTS
NCBI RH Map289.0UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS
D1S1425  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map2p23-p22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic Map2p11.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map3q11.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map15q11-q12UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map4q31.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map15q24-q25UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6q16UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic MapXq21.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1636
Count of miRNA genes:696
Interacting mature miRNAs:783
Transcripts:ENST00000281513, ENST00000417461, ENST00000423602, ENST00000427792, ENST00000429842, ENST00000433283, ENST00000441750, ENST00000441755, ENST00000442506, ENST00000485694
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 2 1
Medium 1844 1459 1186 165 1063 99 3625 1294 2125 274 1319 1440 81 1 804 2291 5 2
Low 595 1524 540 459 881 366 732 902 1607 145 141 172 94 400 497 1
Below cutoff 8 7 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_052013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB621813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC074184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF056195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF388385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC131735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG195182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ878688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM243530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM243531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM243532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000281513   ⟹   ENSP00000281513
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,166,916 - 15,561,334 (-)Ensembl
RefSeq Acc Id: ENST00000417461   ⟹   ENSP00000392421
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,166,914 - 15,238,686 (-)Ensembl
RefSeq Acc Id: ENST00000423602   ⟹   ENSP00000403119
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,177,949 - 15,190,397 (-)Ensembl
RefSeq Acc Id: ENST00000427792   ⟹   ENSP00000402458
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,478,245 - 15,511,303 (-)Ensembl
RefSeq Acc Id: ENST00000429842   ⟹   ENSP00000391476
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,393,639 - 15,417,581 (-)Ensembl
RefSeq Acc Id: ENST00000433283   ⟹   ENSP00000390920
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,166,916 - 15,190,403 (-)Ensembl
RefSeq Acc Id: ENST00000441755   ⟹   ENSP00000396501
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,374,608 - 15,424,392 (-)Ensembl
RefSeq Acc Id: ENST00000442506   ⟹   ENSP00000398411
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,166,916 - 15,424,394 (-)Ensembl
RefSeq Acc Id: ENST00000485694
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl215,166,917 - 15,180,378 (-)Ensembl
RefSeq Acc Id: NM_015909   ⟹   NP_056993
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38215,166,916 - 15,561,334 (-)NCBI
GRCh37215,307,032 - 15,701,472 (-)NCBI
Build 36215,224,483 - 15,618,905 (-)NCBI Archive
Celera215,224,679 - 15,619,170 (-)RGD
HuRef215,157,911 - 15,552,718 (-)NCBI
CHM1_1215,236,546 - 15,631,326 (-)NCBI
Sequence:
RefSeq Acc Id: NR_052013
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38215,166,916 - 15,561,334 (-)NCBI
GRCh37215,307,032 - 15,701,472 (-)NCBI
HuRef215,157,911 - 15,552,718 (-)NCBI
CHM1_1215,236,546 - 15,631,326 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510357   ⟹   XP_011508659
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38215,166,913 - 15,561,344 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510358   ⟹   XP_011508660
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38215,166,913 - 15,561,344 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510360   ⟹   XP_011508662
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38215,166,913 - 15,452,249 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510361   ⟹   XP_011508663
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38215,166,913 - 15,452,249 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017004317   ⟹   XP_016859806
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38214,998,067 - 15,561,344 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452961   ⟹   XP_024308729
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38215,166,913 - 15,561,334 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_056993   ⟸   NM_015909
- UniProtKB: A2RRP1 (UniProtKB/Swiss-Prot),   G1UI26 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011508660   ⟸   XM_011510358
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011508659   ⟸   XM_011510357
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011508663   ⟸   XM_011510361
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011508662   ⟸   XM_011510360
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016859806   ⟸   XM_017004317
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024308729   ⟸   XM_024452961
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000403119   ⟸   ENST00000423602
RefSeq Acc Id: ENSP00000402458   ⟸   ENST00000427792
RefSeq Acc Id: ENSP00000281513   ⟸   ENST00000281513
RefSeq Acc Id: ENSP00000391476   ⟸   ENST00000429842
RefSeq Acc Id: ENSP00000396501   ⟸   ENST00000441755
RefSeq Acc Id: ENSP00000392421   ⟸   ENST00000417461
RefSeq Acc Id: ENSP00000398411   ⟸   ENST00000442506
RefSeq Acc Id: ENSP00000390920   ⟸   ENST00000433283
Protein Domains
Nbas_N   Sec39

Promoters
RGD ID:6859672
Promoter ID:EPDNEW_H3001
Type:initiation region
Name:NBAS_1
Description:neuroblastoma amplified sequence
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
GRCh38215,561,334 - 15,561,394EPDNEW
RGD ID:6797860
Promoter ID:HG_KWN:31588
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_015909,   UC002RCD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36215,618,619 - 15,619,119 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015909.4(NBAS):c.1549C>T (p.Arg517Cys) single nucleotide variant not provided [RCV000522155] Chr2:15474117 [GRCh38]
Chr2:15614241 [GRCh37]
Chr2:2p24.3
likely pathogenic
NM_015909.4(NBAS):c.2882T>G (p.Leu961Ter) single nucleotide variant not provided [RCV000523538] Chr2:15415601 [GRCh38]
Chr2:15555725 [GRCh37]
Chr2:2p24.3
pathogenic
NM_015909.4(NBAS):c.5129C>T (p.Thr1710Met) single nucleotide variant Short stature, optic nerve atrophy, and Pelger-Huet anomaly [RCV000655950] Chr2:15287082 [GRCh38]
Chr2:15427206 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.4680C>A (p.Cys1560Ter) single nucleotide variant not provided [RCV000521060] Chr2:15308333 [GRCh38]
Chr2:15448457 [GRCh37]
Chr2:2p24.3
likely pathogenic
NM_015909.4(NBAS):c.5741G>A (p.Arg1914His) single nucleotide variant Short stature, optic nerve atrophy, and Pelger-Huet anomaly [RCV000030702]|not provided [RCV000514330] Chr2:15238670 [GRCh38]
Chr2:15378794 [GRCh37]
Chr2:2p24.3
pathogenic
NM_015909.3(NBAS):c.5724+6552G>T single nucleotide variant Lung cancer [RCV000091566] Chr2:15268932 [GRCh38]
Chr2:15409056 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.3(NBAS):c.747-6534G>C single nucleotide variant Lung cancer [RCV000091585] Chr2:15517884 [GRCh38]
Chr2:15658008 [GRCh37]
Chr2:2p24.3
uncertain significance
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1
pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1
pathogenic
GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1 copy number loss See cases [RCV000053978] Chr2:6531172..16103799 [GRCh38]
Chr2:6671304..16243921 [GRCh37]
Chr2:6588755..16161372 [NCBI36]
Chr2:2p25.2-24.3
pathogenic
NM_015909.3(NBAS):c.5035G>C (p.Glu1679Gln) single nucleotide variant Malignant melanoma [RCV000060353] Chr2:15287176 [GRCh38]
Chr2:15427300 [GRCh37]
Chr2:15344751 [NCBI36]
Chr2:2p24.3
not provided
NM_015909.3(NBAS):c.3883C>T (p.His1295Tyr) single nucleotide variant Malignant melanoma [RCV000065120] Chr2:15356351 [GRCh38]
Chr2:15496475 [GRCh37]
Chr2:15413926 [NCBI36]
Chr2:2p24.3
not provided
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 copy number gain See cases [RCV000135398] Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2
pathogenic
GRCh38/hg38 2p24.3(chr2:14715345-16305738)x3 copy number gain See cases [RCV000134770] Chr2:14715345..16305738 [GRCh38]
Chr2:14855469..16487006 [GRCh37]
Chr2:14772920..16350487 [NCBI36]
Chr2:2p24.3
uncertain significance
GRCh38/hg38 2p24.3(chr2:15003826-15582823)x1 copy number loss See cases [RCV000135418] Chr2:15003826..15582823 [GRCh38]
Chr2:15143950..15722947 [GRCh37]
Chr2:15061401..15640398 [NCBI36]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.409C>T (p.Arg137Trp) single nucleotide variant Infantile liver failure syndrome 2 [RCV000202648] Chr2:15539327 [GRCh38]
Chr2:15679451 [GRCh37]
Chr2:2p24.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 2p24.3(chr2:13664310-16228425)x1 copy number loss See cases [RCV000137049] Chr2:13664310..16228425 [GRCh38]
Chr2:13804435..16409693 [GRCh37]
Chr2:13721886..16273174 [NCBI36]
Chr2:2p24.3
pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3 copy number gain See cases [RCV000137344] Chr2:17019..26318846 [GRCh38]
Chr2:17019..26541714 [GRCh37]
Chr2:7019..26395218 [NCBI36]
Chr2:2p25.3-23.3
pathogenic
GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3 copy number gain See cases [RCV000137913] Chr2:1664615..23664142 [GRCh38]
Chr2:1668387..23887012 [GRCh37]
Chr2:1647394..23740517 [NCBI36]
Chr2:2p25.3-24.1
pathogenic|likely pathogenic
NM_015909.4(NBAS):c.4822A>G (p.Met1608Val) single nucleotide variant not provided [RCV000910621]|not specified [RCV000202774] Chr2:15292742 [GRCh38]
Chr2:15432866 [GRCh37]
Chr2:2p24.3
likely pathogenic|benign|uncertain significance
NM_015909.4(NBAS):c.3348T>G (p.Asp1116Glu) single nucleotide variant not provided [RCV000514481] Chr2:15383227 [GRCh38]
Chr2:15523351 [GRCh37]
Chr2:2p24.3
uncertain significance
GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3 copy number gain See cases [RCV000141226] Chr2:17019..20001056 [GRCh38]
Chr2:17019..20200817 [GRCh37]
Chr2:7019..20064298 [NCBI36]
Chr2:2p25.3-24.1
pathogenic
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3
pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3 copy number gain See cases [RCV000141877] Chr2:12770..25039694 [GRCh38]
Chr2:12770..25262563 [GRCh37]
Chr2:2770..25116067 [NCBI36]
Chr2:2p25.3-23.3
pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21
pathogenic
NM_015909.4(NBAS):c.558_560del (p.Ile187del) deletion Infantile liver failure syndrome 2 [RCV000186577] Chr2:15536505..15536507 [GRCh38]
Chr2:15676629..15676631 [GRCh37]
Chr2:2p24.3
pathogenic
NM_015909.4(NBAS):c.686dup (p.Ser230fs) duplication Infantile liver failure syndrome 2 [RCV000186578]|not provided [RCV000487069] Chr2:15534602..15534603 [GRCh38]
Chr2:15674726..15674727 [GRCh37]
Chr2:2p24.3
pathogenic
NM_015909.4(NBAS):c.603_605del (p.Leu202del) deletion Infantile liver failure syndrome 2 [RCV000186580] Chr2:15536460..15536462 [GRCh38]
Chr2:15676584..15676586 [GRCh37]
Chr2:2p24.3
pathogenic
NM_015909.4(NBAS):c.3164T>C (p.Leu1055Pro) single nucleotide variant Infantile liver failure syndrome 2 [RCV000186581]|Short stature, optic nerve atrophy, and Pelger-Huet anomaly [RCV000761305] Chr2:15394320 [GRCh38]
Chr2:15534444 [GRCh37]
Chr2:2p24.3
pathogenic|likely pathogenic
NM_015909.4(NBAS):c.2708T>G (p.Leu903Arg) single nucleotide variant Infantile liver failure syndrome 2 [RCV000186579] Chr2:15417582 [GRCh38]
Chr2:15557706 [GRCh37]
Chr2:2p24.3
pathogenic
NM_015909.3:c.(?_5028)_(5724_?)del deletion Short stature, optic nerve atrophy, and Pelger-Huet anomaly [RCV000762796] Chr2:2p24.3 likely pathogenic
NM_015909.4(NBAS):c.2012T>G (p.Phe671Cys) single nucleotide variant Short stature, optic nerve atrophy, and Pelger-Huet anomaly [RCV000626282] Chr2:15467670 [GRCh38]
Chr2:15607794 [GRCh37]
Chr2:2p24.3
likely pathogenic|uncertain significance
NM_015909.4(NBAS):c.1093G>C (p.Asp365His) single nucleotide variant not provided [RCV000513910] Chr2:15478280 [GRCh38]
Chr2:15618404 [GRCh37]
Chr2:2p24.3
benign|likely benign
NM_015909.4(NBAS):c.4228A>G (p.Thr1410Ala) single nucleotide variant not provided [RCV000270270] Chr2:15330717 [GRCh38]
Chr2:15470841 [GRCh37]
Chr2:2p24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_015909.4(NBAS):c.3136G>A (p.Val1046Met) single nucleotide variant not provided [RCV000273996] Chr2:15394348 [GRCh38]
Chr2:15534472 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.5090G>T (p.Arg1697Leu) single nucleotide variant not provided [RCV000893877]|not specified [RCV000308368] Chr2:15287121 [GRCh38]
Chr2:15427245 [GRCh37]
Chr2:2p24.3
benign|likely benign
NM_015909.4(NBAS):c.6790G>C (p.Asp2264His) single nucleotide variant not provided [RCV000894595]|not specified [RCV000358949] Chr2:15179038 [GRCh38]
Chr2:15319162 [GRCh37]
Chr2:2p24.3
benign|likely benign
NM_015909.4(NBAS):c.2524G>T (p.Val842Phe) single nucleotide variant not provided [RCV000489731] Chr2:15424368 [GRCh38]
Chr2:15564492 [GRCh37]
Chr2:2p24.3
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_015909.4(NBAS):c.758T>G (p.Val253Gly) single nucleotide variant not provided [RCV000490093] Chr2:15511339 [GRCh38]
Chr2:15651463 [GRCh37]
Chr2:2p24.3
likely pathogenic
NM_015909.4(NBAS):c.3217C>T (p.Arg1073Cys) single nucleotide variant not provided [RCV000952470]|not specified [RCV000592409] Chr2:15394267 [GRCh38]
Chr2:15534391 [GRCh37]
Chr2:2p24.3
benign|likely benign
NM_015909.4(NBAS):c.842C>T (p.Pro281Leu) single nucleotide variant not provided [RCV000523740] Chr2:15511255 [GRCh38]
Chr2:15651379 [GRCh37]
Chr2:2p24.3
likely pathogenic
NM_015909.4(NBAS):c.1166C>T (p.Pro389Leu) single nucleotide variant not provided [RCV000596822] Chr2:15475862 [GRCh38]
Chr2:15615986 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.2167C>T (p.Gln723Ter) single nucleotide variant not provided [RCV000513803] Chr2:15461722 [GRCh38]
Chr2:15601846 [GRCh37]
Chr2:2p24.3
pathogenic
GRCh37/hg19 2p24.3(chr2:14617464-16467586)x1 copy number loss See cases [RCV000446084] Chr2:14617464..16467586 [GRCh37]
Chr2:2p24.3
pathogenic
NM_015909.4(NBAS):c.451G>A (p.Glu151Lys) single nucleotide variant not provided [RCV000424723] Chr2:15539285 [GRCh38]
Chr2:15679409 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.5139-5T>G single nucleotide variant not provided [RCV000422955] Chr2:15277106 [GRCh38]
Chr2:15417230 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.1948C>T (p.Pro650Ser) single nucleotide variant not provided [RCV000903259]|not specified [RCV000420240] Chr2:15467734 [GRCh38]
Chr2:15607858 [GRCh37]
Chr2:2p24.3
benign|likely benign
NC_000002.11:g.(?_11326144)_(16240708_?)del deletion Schizophrenia [RCV000416804] Chr2:11326144..16240708 [GRCh37]
Chr2:11243595..16158159 [NCBI36]
Chr2:2p25.1-24.3
likely pathogenic
NM_015909.4(NBAS):c.130del (p.Gln44fs) deletion not provided [RCV000483774] Chr2:15558622 [GRCh38]
Chr2:15698746 [GRCh37]
Chr2:2p24.3
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_015909.4(NBAS):c.6316del (p.Arg2106fs) deletion not provided [RCV000479066] Chr2:15218889 [GRCh38]
Chr2:15359013 [GRCh37]
Chr2:2p24.3
likely pathogenic
NM_015909.4(NBAS):c.6147-2A>G single nucleotide variant not provided [RCV000498895] Chr2:15232513 [GRCh38]
Chr2:15372637 [GRCh37]
Chr2:2p24.3
likely pathogenic
NM_015909.4(NBAS):c.4721C>T (p.Ala1574Val) single nucleotide variant Infantile liver failure syndrome 2 [RCV000508647]|Short stature, optic nerve atrophy, and Pelger-Huet anomaly [RCV000508609] Chr2:15308292 [GRCh38]
Chr2:15448416 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.680A>C (p.His227Pro) single nucleotide variant Infantile liver failure syndrome 2 [RCV000492144] Chr2:15534609 [GRCh38]
Chr2:15674733 [GRCh37]
Chr2:2p24.3
pathogenic|likely pathogenic
NM_015909.4(NBAS):c.1749G>A (p.Trp583Ter) single nucleotide variant Infantile liver failure syndrome 2 [RCV000492542] Chr2:15468510 [GRCh38]
Chr2:15608634 [GRCh37]
Chr2:2p24.3
pathogenic
NM_015909.4(NBAS):c.586C>T (p.Gln196Ter) single nucleotide variant Short stature, optic nerve atrophy, and Pelger-Huet anomaly [RCV000495259] Chr2:15536479 [GRCh38]
Chr2:15676603 [GRCh37]
Chr2:2p24.3
pathogenic
NM_015909.4(NBAS):c.2065T>C (p.Leu689=) single nucleotide variant Short stature, optic nerve atrophy, and Pelger-Huet anomaly [RCV000495675] Chr2:15467361 [GRCh38]
Chr2:15607485 [GRCh37]
Chr2:2p24.3
uncertain significance
GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3 copy number gain See cases [RCV000510934] Chr2:12770..20081474 [GRCh37]
Chr2:2p25.3-24.1
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_015909.4(NBAS):c.1987C>T (p.Gln663Ter) single nucleotide variant Infantile liver failure [RCV000607971] Chr2:15467695 [GRCh38]
Chr2:15607819 [GRCh37]
Chr2:2p24.3
likely pathogenic
NM_015909.4(NBAS):c.2950del (p.Ile984fs) deletion Infantile liver failure [RCV000602655]|not provided [RCV000596241] Chr2:15402289 [GRCh38]
Chr2:15542413 [GRCh37]
Chr2:2p24.3
pathogenic|likely pathogenic
NM_015909.4(NBAS):c.5864T>C (p.Leu1955Ser) single nucleotide variant Short stature, optic nerve atrophy, and Pelger-Huet anomaly [RCV000655949] Chr2:15238547 [GRCh38]
Chr2:15378671 [GRCh37]
Chr2:2p24.3
uncertain significance
GRCh37/hg19 2p24.3(chr2:15351425-15403185)x1 copy number loss not provided [RCV000681972] Chr2:15351425..15403185 [GRCh37]
Chr2:2p24.3
uncertain significance
GRCh37/hg19 2p24.3(chr2:15593433-15656036)x1 copy number loss not provided [RCV000681981] Chr2:15593433..15656036 [GRCh37]
Chr2:2p24.3
uncertain significance
GRCh37/hg19 2p24.3(chr2:15310738-15450979)x1 copy number loss not provided [RCV000682013] Chr2:15310738..15450979 [GRCh37]
Chr2:2p24.3
uncertain significance
GRCh37/hg19 2p24.3(chr2:15306731-15682993)x1 copy number loss not provided [RCV000682068] Chr2:15306731..15682993 [GRCh37]
Chr2:2p24.3
uncertain significance
GRCh37/hg19 2p24.3(chr2:15434967-15528281)x1 copy number loss not provided [RCV000752865] Chr2:15434967..15528281 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.1600-207A>G single nucleotide variant not provided [RCV001537351] Chr2:15473554 [GRCh38]
Chr2:15613678 [GRCh37]
Chr2:2p24.3
benign
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NC_000002.12:g.(?_11177745)_(16113827_?)del deletion Schizophrenia [RCV000754225] Chr2:11177745..16113827 [GRCh38]
Chr2:2p25.1-24.3
likely pathogenic
Single allele duplication Primary amenorrhea [RCV000754403] Chr2:15091702..16172000 [GRCh37]
Chr2:2p24.3
uncertain significance
null single nucleotide variant not provided [RCV001608823] Chr2:15396748 [GRCh38]
Chr2:15536872 [GRCh37]
Chr2:2p24.3
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant Infantile liver failure syndrome 2 [RCV001647342] Chr2:15417660 [GRCh38]
Chr2:15557784 [GRCh37]
Chr2:2p24.3
likely pathogenic
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) microsatellite not provided [RCV001680356] Chr2:15351871..15351880 [GRCh38]
Chr2:15491995..15492004 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.1786G>A (p.Val596Met) single nucleotide variant not provided [RCV001564568] Chr2:15468473 [GRCh38]
Chr2:15608597 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_001943.5(DSG2):c.1299T>C (p.Asp433=) single nucleotide variant not provided [RCV001709073] Chr2:15190596 [GRCh38]
Chr2:15330720 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.2130G>A (p.Gln710=) single nucleotide variant not provided [RCV000961390] Chr2:15461759 [GRCh38]
Chr2:15601883 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.287+8A>G single nucleotide variant not provided [RCV000961391] Chr2:15554053 [GRCh38]
Chr2:15694177 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.1501C>T (p.Arg501Ter) single nucleotide variant Infantile liver failure syndrome 2 [RCV000755658] Chr2:15474165 [GRCh38]
Chr2:15614289 [GRCh37]
Chr2:2p24.3
pathogenic
NM_015909.4(NBAS):c.2098-262T>C single nucleotide variant not provided [RCV001534692] Chr2:15462053 [GRCh38]
Chr2:15602177 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.6840G>A (p.Thr2280=) single nucleotide variant Infantile liver failure syndrome 2 [RCV000755659] Chr2:15178988 [GRCh38]
Chr2:15319112 [GRCh37]
Chr2:2p24.3
pathogenic
null single nucleotide variant not provided [RCV001667013] Chr2:15277226 [GRCh38]
Chr2:15417350 [GRCh37]
Chr2:2p24.3
benign
NM_015087.5(SPART):c.1172A>G (p.Asp391Gly) single nucleotide variant not provided [RCV001640884] Chr2:15427700 [GRCh38]
Chr2:15567824 [GRCh37]
Chr2:2p24.3
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant Infantile liver failure syndrome 2 [RCV001647343] Chr2:15330657 [GRCh38]
Chr2:15470781 [GRCh37]
Chr2:2p24.3
pathogenic
NM_015909.4(NBAS):c.2411A>G (p.Glu804Gly) single nucleotide variant Short stature, optic nerve atrophy, and Pelger-Huet anomaly [RCV001095793] Chr2:15427723 [GRCh38]
Chr2:15567847 [GRCh37]
Chr2:2p24.3
likely pathogenic
NM_015909.4(NBAS):c.5983C>G (p.Arg1995Gly) single nucleotide variant not provided [RCV000997029] Chr2:15234708 [GRCh38]
Chr2:15374832 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.4302T>C (p.Asp1434=) single nucleotide variant not provided [RCV000997030] Chr2:15330643 [GRCh38]
Chr2:15470767 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.2908C>T (p.Leu970=) single nucleotide variant not provided [RCV000997033] Chr2:15415575 [GRCh38]
Chr2:15555699 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.2573G>A (p.Arg858Gln) single nucleotide variant not provided [RCV000997034] Chr2:15424319 [GRCh38]
Chr2:15564443 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001645129] Chr2:15396190 [GRCh38]
Chr2:15536314 [GRCh37]
Chr2:2p24.3
benign
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) single nucleotide variant not provided [RCV001644419] Chr2:15190087 [GRCh38]
Chr2:15330211 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.2116C>T (p.His706Tyr) single nucleotide variant not provided [RCV000949883] Chr2:15461773 [GRCh38]
Chr2:15601897 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.4358G>A (p.Cys1453Tyr) single nucleotide variant not provided [RCV000950377] Chr2:15328302 [GRCh38]
Chr2:15468426 [GRCh37]
Chr2:2p24.3
likely benign|conflicting interpretations of pathogenicity
NM_015909.4(NBAS):c.1846T>C (p.Leu616=) single nucleotide variant not provided [RCV000882547] Chr2:15468413 [GRCh38]
Chr2:15608537 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.6702G>T (p.Leu2234=) single nucleotide variant not provided [RCV000900968] Chr2:15186751 [GRCh38]
Chr2:15326875 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.3928A>G (p.Thr1310Ala) single nucleotide variant not provided [RCV000971207] Chr2:15356306 [GRCh38]
Chr2:15496430 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.2340-18dup duplication not provided [RCV000884470] Chr2:15427803..15427804 [GRCh38]
Chr2:15567927..15567928 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.1348A>G (p.Ile450Val) single nucleotide variant not provided [RCV000879710] Chr2:15474318 [GRCh38]
Chr2:15614442 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.130C>G (p.Gln44Glu) single nucleotide variant not provided [RCV000959532] Chr2:15558622 [GRCh38]
Chr2:15698746 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.3787C>T (p.Leu1263=) single nucleotide variant not provided [RCV000899272] Chr2:15366610 [GRCh38]
Chr2:15506734 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.5808C>T (p.Asn1936=) single nucleotide variant not provided [RCV000901138] Chr2:15238603 [GRCh38]
Chr2:15378727 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.6876C>G (p.Ser2292=) single nucleotide variant not provided [RCV000967945] Chr2:15167288 [GRCh38]
Chr2:15307412 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.1371T>G (p.Ser457=) single nucleotide variant not provided [RCV000967946] Chr2:15474295 [GRCh38]
Chr2:15614419 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.4913G>A (p.Arg1638His) single nucleotide variant Infantile liver failure syndrome 2 [RCV000986590]|not provided [RCV000906450] Chr2:15292651 [GRCh38]
Chr2:15432775 [GRCh37]
Chr2:2p24.3
benign|likely benign
NM_015909.4(NBAS):c.3067T>C (p.Tyr1023His) single nucleotide variant not provided [RCV000880493] Chr2:15402172 [GRCh38]
Chr2:15542296 [GRCh37]
Chr2:2p24.3
likely benign|conflicting interpretations of pathogenicity
NM_015909.4(NBAS):c.258A>G (p.Lys86=) single nucleotide variant not provided [RCV000903129] Chr2:15554090 [GRCh38]
Chr2:15694214 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.3603A>G (p.Gln1201=) single nucleotide variant not provided [RCV000903998] Chr2:15374708 [GRCh38]
Chr2:15514832 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.4854C>T (p.His1618=) single nucleotide variant not provided [RCV000929414] Chr2:15292710 [GRCh38]
Chr2:15432834 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.5467A>T (p.Ile1823Phe) single nucleotide variant Infantile liver failure syndrome 2 [RCV000986588]|not provided [RCV001572665] Chr2:15275741 [GRCh38]
Chr2:15415865 [GRCh37]
Chr2:2p24.3
likely pathogenic|uncertain significance
NM_015909.4(NBAS):c.5465A>C (p.Asn1822Thr) single nucleotide variant Infantile liver failure syndrome 2 [RCV000986589]|not provided [RCV001572745] Chr2:15275743 [GRCh38]
Chr2:15415867 [GRCh37]
Chr2:2p24.3
likely pathogenic|uncertain significance
NM_015909.4(NBAS):c.335+1G>A single nucleotide variant Infantile liver failure syndrome 2 [RCV000986591] Chr2:15553425 [GRCh38]
Chr2:15693549 [GRCh37]
Chr2:2p24.3
likely pathogenic
NM_015909.4(NBAS):c.4537T>C (p.Leu1513=) single nucleotide variant not provided [RCV000920432] Chr2:15327795 [GRCh38]
Chr2:15467919 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.6932G>A (p.Arg2311His) single nucleotide variant not provided [RCV000901540] Chr2:15167232 [GRCh38]
Chr2:15307356 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.3704-5T>C single nucleotide variant not provided [RCV000925106] Chr2:15366698 [GRCh38]
Chr2:15506822 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.3755C>A (p.Ser1252Tyr) single nucleotide variant not provided [RCV000961389] Chr2:15366642 [GRCh38]
Chr2:15506766 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.7023C>T (p.Ala2341=) single nucleotide variant not provided [RCV000914629] Chr2:15167141 [GRCh38]
Chr2:15307265 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.4968C>T (p.Asp1656=) single nucleotide variant not provided [RCV000899073] Chr2:15292596 [GRCh38]
Chr2:15432720 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.513+9A>G single nucleotide variant not provided [RCV000916043] Chr2:15539214 [GRCh38]
Chr2:15679338 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.767G>A (p.Cys256Tyr) single nucleotide variant not provided [RCV000979318] Chr2:15511330 [GRCh38]
Chr2:15651454 [GRCh37]
Chr2:2p24.3
likely benign
NM_000371.3(TTR):c.372C>G (p.Arg124=) single nucleotide variant not provided [RCV000884167]|not specified [RCV001700334] Chr2:15292717 [GRCh38]
Chr2:15432841 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.6216C>T (p.Val2072=) single nucleotide variant not provided [RCV000916809] Chr2:15232442 [GRCh38]
Chr2:15372566 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.6390T>G (p.Phe2130Leu) single nucleotide variant not provided [RCV000896621] Chr2:15218815 [GRCh38]
Chr2:15358939 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.6507C>T (p.His2169=) single nucleotide variant not provided [RCV000906285] Chr2:15190329 [GRCh38]
Chr2:15330453 [GRCh37]
Chr2:2p24.3
benign
GRCh37/hg19 2p24.3(chr2:15310819-15679132)x1 copy number loss not provided [RCV001005232] Chr2:15310819..15679132 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.3290C>T (p.Thr1097Met) single nucleotide variant not provided [RCV000914114] Chr2:15383285 [GRCh38]
Chr2:15523409 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.711T>C (p.His237=) single nucleotide variant not provided [RCV000893124] Chr2:15534578 [GRCh38]
Chr2:15674702 [GRCh37]
Chr2:2p24.3
benign
GRCh37/hg19 2p24.3-24.2(chr2:12269293-18259781)x3 copy number gain not provided [RCV000847286] Chr2:12269293..18259781 [GRCh37]
Chr2:2p24.3-24.2
pathogenic
GRCh37/hg19 2p24.3(chr2:15338744-15670360)x1 copy number loss not provided [RCV000849361] Chr2:15338744..15670360 [GRCh37]
Chr2:2p24.3
pathogenic
GRCh37/hg19 2p24.3(chr2:15636487-15786810)x3 copy number gain not provided [RCV000849294] Chr2:15636487..15786810 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.1488G>A (p.Val496=) single nucleotide variant not provided [RCV000919925] Chr2:15474178 [GRCh38]
Chr2:15614302 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.17C>A (p.Ser6Ter) single nucleotide variant not provided [RCV001039708] Chr2:15561288 [GRCh38]
Chr2:15701412 [GRCh37]
Chr2:2p24.3
pathogenic
GRCh37/hg19 2p24.3(chr2:15467856-15545273)x3 copy number gain not provided [RCV000846235] Chr2:15467856..15545273 [GRCh37]
Chr2:2p24.3
uncertain significance
GRCh37/hg19 2p24.3-24.1(chr2:15631145-21729493)x1 copy number loss not provided [RCV000847885] Chr2:15631145..21729493 [GRCh37]
Chr2:2p24.3-24.1
pathogenic
GRCh37/hg19 2p24.3(chr2:15133366-15730846)x1 copy number loss not provided [RCV000847741] Chr2:15133366..15730846 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.1203del (p.Thr402fs) deletion not provided [RCV001009226] Chr2:15475825 [GRCh38]
Chr2:15615949 [GRCh37]
Chr2:2p24.3
likely pathogenic
GRCh37/hg19 2p24.3-24.2(chr2:15478363-17062394)x3 copy number gain not provided [RCV001005234] Chr2:15478363..17062394 [GRCh37]
Chr2:2p24.3-24.2
pathogenic
null deletion not provided [RCV001609174] Chr2:15277157..15277158 [GRCh38]
Chr2:15417281..15417282 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001621335] Chr2:15551667 [GRCh38]
Chr2:15691791 [GRCh37]
Chr2:2p24.3
benign
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, single nucleotide variant not provided [RCV001638683] Chr2:15503987 [GRCh38]
Chr2:15644111 [GRCh37]
Chr2:2p24.3
benign
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, single nucleotide variant not provided [RCV001638718] Chr2:15330903 [GRCh38]
Chr2:15471027 [GRCh37]
Chr2:2p24.3
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001648077] Chr2:15287468 [GRCh38]
Chr2:15427592 [GRCh37]
Chr2:2p24.3
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001645236] Chr2:15560878 [GRCh38]
Chr2:15701002 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001612235] Chr2:15427112 [GRCh38]
Chr2:15567236 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.514-209A>T single nucleotide variant not provided [RCV001534291] Chr2:15536760 [GRCh38]
Chr2:15676884 [GRCh37]
Chr2:2p24.3
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001681284] Chr2:15186710 [GRCh38]
Chr2:15326834 [GRCh37]
Chr2:2p24.3
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001654176] Chr2:15330878 [GRCh38]
Chr2:15471002 [GRCh37]
Chr2:2p24.3
benign
NM_001943.5(DSG2):c.1299T>C (p.Asp433=) single nucleotide variant not provided [RCV001709959] Chr2:15328524 [GRCh38]
Chr2:15468648 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001663167] Chr2:15354028 [GRCh38]
Chr2:15494152 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001691323] Chr2:15473591 [GRCh38]
Chr2:15613715 [GRCh37]
Chr2:2p24.3
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001648810] Chr2:15551258 [GRCh38]
Chr2:15691382 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001672382] Chr2:15560914 [GRCh38]
Chr2:15701038 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001614172] Chr2:15287500 [GRCh38]
Chr2:15427624 [GRCh37]
Chr2:2p24.3
benign
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, single nucleotide variant not provided [RCV001640034] Chr2:15219215 [GRCh38]
Chr2:15359339 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001616230] Chr2:15379868 [GRCh38]
Chr2:15519992 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001694613] Chr2:15178898 [GRCh38]
Chr2:15319022 [GRCh37]
Chr2:2p24.3
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) microsatellite not provided [RCV001654783] Chr2:15351871..15351878 [GRCh38]
Chr2:15491995..15492002 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001696464] Chr2:15356598 [GRCh38]
Chr2:15496722 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.1148-211G>A single nucleotide variant not provided [RCV001541620] Chr2:15476091 [GRCh38]
Chr2:15616215 [GRCh37]
Chr2:2p24.3
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001647827] Chr2:15558490 [GRCh38]
Chr2:15698614 [GRCh37]
Chr2:2p24.3
benign
null microsatellite not provided [RCV001614653] Chr2:15351871..15351874 [GRCh38]
Chr2:15491995..15491998 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.3198A>G (p.Gln1066=) single nucleotide variant not provided [RCV000922321] Chr2:15394286 [GRCh38]
Chr2:15534410 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.2750T>C (p.Leu917Ser) single nucleotide variant not provided [RCV000894596] Chr2:15417540 [GRCh38]
Chr2:15557664 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.4605A>G (p.Glu1535=) single nucleotide variant not provided [RCV000954229] Chr2:15309225 [GRCh38]
Chr2:15449349 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.1181A>G (p.Asn394Ser) single nucleotide variant not provided [RCV000888046] Chr2:15475847 [GRCh38]
Chr2:15615971 [GRCh37]
Chr2:2p24.3
likely benign
NM_000371.3(TTR):c.372C>G (p.Arg124=) single nucleotide variant not provided [RCV000896828]|not specified [RCV001700500] Chr2:15275768 [GRCh38]
Chr2:15415892 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.1702G>A (p.Val568Ile) single nucleotide variant not provided [RCV000887334] Chr2:15473245 [GRCh38]
Chr2:15613369 [GRCh37]
Chr2:2p24.3
benign|likely benign
NM_015909.4(NBAS):c.4218A>G (p.Leu1406=) single nucleotide variant not provided [RCV000910022] Chr2:15330727 [GRCh38]
Chr2:15470851 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.5709A>T (p.Pro1903=) single nucleotide variant not provided [RCV000916597] Chr2:15275499 [GRCh38]
Chr2:15415623 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.1083+4C>T single nucleotide variant not provided [RCV000884168] Chr2:15488890 [GRCh38]
Chr2:15629014 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.3282T>C (p.His1094=) single nucleotide variant not provided [RCV000974905] Chr2:15383293 [GRCh38]
Chr2:15523417 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.450C>T (p.Ala150=) single nucleotide variant not provided [RCV000964450] Chr2:15539286 [GRCh38]
Chr2:15679410 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.2108G>C (p.Gly703Ala) single nucleotide variant not provided [RCV000886363] Chr2:15461781 [GRCh38]
Chr2:15601905 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.656C>G (p.Thr219Arg) single nucleotide variant not provided [RCV000968833] Chr2:15534633 [GRCh38]
Chr2:15674757 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.6838A>G (p.Thr2280Ala) single nucleotide variant not provided [RCV000904429] Chr2:15178990 [GRCh38]
Chr2:15319114 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.6854A>G (p.Asn2285Ser) single nucleotide variant not provided [RCV000929155] Chr2:15167310 [GRCh38]
Chr2:15307434 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.6489C>T (p.Leu2163=) single nucleotide variant not provided [RCV000899759] Chr2:15190347 [GRCh38]
Chr2:15330471 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.6219C>T (p.His2073=) single nucleotide variant not provided [RCV000902502] Chr2:15232439 [GRCh38]
Chr2:15372563 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.4295T>C (p.Val1432Ala) single nucleotide variant not provided [RCV000997031] Chr2:15330650 [GRCh38]
Chr2:15470774 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.3811G>A (p.Val1271Ile) single nucleotide variant not provided [RCV000997032] Chr2:15366586 [GRCh38]
Chr2:15506710 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.1823A>G (p.Lys608Arg) single nucleotide variant not provided [RCV000997035] Chr2:15468436 [GRCh38]
Chr2:15608560 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.498C>G (p.Leu166=) single nucleotide variant not provided [RCV000935328] Chr2:15539238 [GRCh38]
Chr2:15679362 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.287+9G>C single nucleotide variant not provided [RCV000911172] Chr2:15554052 [GRCh38]
Chr2:15694176 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.1296A>G (p.Ser432=) single nucleotide variant not provided [RCV000890346] Chr2:15475732 [GRCh38]
Chr2:15615856 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.6804C>T (p.His2268=) single nucleotide variant not provided [RCV000913804] Chr2:15179024 [GRCh38]
Chr2:15319148 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.3135-8A>G single nucleotide variant not provided [RCV000913618] Chr2:15394357 [GRCh38]
Chr2:15534481 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.891G>A (p.Pro297=) single nucleotide variant not provided [RCV000913378] Chr2:15504208 [GRCh38]
Chr2:15644332 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.5817C>T (p.Asp1939=) single nucleotide variant not provided [RCV000934656] Chr2:15238594 [GRCh38]
Chr2:15378718 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.6012A>G (p.Glu2004=) single nucleotide variant not provided [RCV000890881] Chr2:15234679 [GRCh38]
Chr2:15374803 [GRCh37]
Chr2:2p24.3
benign
NM_014362.4(HIBCH):c.438+9A>T single nucleotide variant not provided [RCV001720777] Chr2:15473870 [GRCh38]
Chr2:15613994 [GRCh37]
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) insertion not provided [RCV001657110] Chr2:15478040..15478041 [GRCh38]
Chr2:15618164..15618165 [GRCh37]
Chr2:2p24.3
benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant not provided [RCV001676089] Chr2:15467999 [GRCh38]
Chr2:15608123 [GRCh37]
Chr2:2p24.3
benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant not provided [RCV001677920] Chr2:15383142 [GRCh38]
Chr2:15523266 [GRCh37]
Chr2:2p24.3
benign
GRCh37/hg19 2p24.3(chr2:15451296-15609156)x1 copy number loss not provided [RCV001005233] Chr2:15451296..15609156 [GRCh37]
Chr2:2p24.3
uncertain significance
null single nucleotide variant not provided [RCV001671855] Chr2:15475580 [GRCh38]
Chr2:15615704 [GRCh37]
Chr2:2p24.3
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant not provided [RCV001713834] Chr2:15427525 [GRCh38]
Chr2:15567649 [GRCh37]
Chr2:2p24.3
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) duplication not provided [RCV001685060] Chr2:15396385..15396386 [GRCh38]
Chr2:15536509..15536510 [GRCh37]
Chr2:2p24.3
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001659392] Chr2:15467889 [GRCh38]
Chr2:15608013 [GRCh37]
Chr2:2p24.3
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001654771] Chr2:15504277 [GRCh38]
Chr2:15644401 [GRCh37]
Chr2:2p24.3
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001595796] Chr2:15551762 [GRCh38]
Chr2:15691886 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.3932-47T>C single nucleotide variant not provided [RCV001536803] Chr2:15353757 [GRCh38]
Chr2:15493881 [GRCh37]
Chr2:2p24.3
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001597727] Chr2:15468581 [GRCh38]
Chr2:15608705 [GRCh37]
Chr2:2p24.3
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001655236] Chr2:15534801 [GRCh38]
Chr2:15674925 [GRCh37]
Chr2:2p24.3
benign
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, single nucleotide variant not provided [RCV001639260] Chr2:15468086 [GRCh38]
Chr2:15608210 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001616545] Chr2:15539485 [GRCh38]
Chr2:15679609 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001619191] Chr2:15286830 [GRCh38]
Chr2:15426954 [GRCh37]
Chr2:2p24.3
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001661093] Chr2:15424675 [GRCh38]
Chr2:15564799 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001637524] Chr2:15402035 [GRCh38]
Chr2:15542159 [GRCh37]
Chr2:2p24.3
benign
null insertion not provided [RCV001621664] Chr2:15461163..15461164 [GRCh38]
Chr2:15601287..15601288 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001617491] Chr2:15382907 [GRCh38]
Chr2:15523031 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001694769] Chr2:15277289 [GRCh38]
Chr2:15417413 [GRCh37]
Chr2:2p24.3
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant not provided [RCV001715945] Chr2:15238257 [GRCh38]
Chr2:15378381 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001620839] Chr2:15383425 [GRCh38]
Chr2:15523549 [GRCh37]
Chr2:2p24.3
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001658397] Chr2:15276783 [GRCh38]
Chr2:15416907 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001694012] Chr2:15534265 [GRCh38]
Chr2:15674389 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001620961] Chr2:15356032 [GRCh38]
Chr2:15496156 [GRCh37]
Chr2:2p24.3
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001598848] Chr2:15534887 [GRCh38]
Chr2:15675011 [GRCh37]
Chr2:2p24.3
benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant not provided [RCV001677412] Chr2:15394599 [GRCh38]
Chr2:15534723 [GRCh37]
Chr2:2p24.3
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001595172] Chr2:15234404 [GRCh38]
Chr2:15374528 [GRCh37]
Chr2:2p24.3
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001684244] Chr2:15461377 [GRCh38]
Chr2:15601501 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001695965] Chr2:15417411 [GRCh38]
Chr2:15557535 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001611648] Chr2:15475906 [GRCh38]
Chr2:15616030 [GRCh37]
Chr2:2p24.3
benign
null microsatellite not provided [RCV001611726] Chr2:15553864..15553875 [GRCh38]
Chr2:15693988..15693999 [GRCh37]
Chr2:2p24.3
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) duplication not provided [RCV001651465] Chr2:15536579..15536580 [GRCh38]
Chr2:15676703..15676704 [GRCh37]
Chr2:2p24.3
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001651565] Chr2:15374934 [GRCh38]
Chr2:15515058 [GRCh37]
Chr2:2p24.3
benign
NM_006096.4(NDRG1):c.64-20dup single nucleotide variant not provided [RCV001707257] Chr2:15366796 [GRCh38]
Chr2:15506920 [GRCh37]
Chr2:2p24.3
benign
NM_000492.3(CFTR):c.1163C>T (p.Thr388Met) deletion Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [RCV001582344] Chr2:15167287 [GRCh38]
Chr2:15307411 [GRCh37]
Chr2:2p24.3
likely pathogenic
null single nucleotide variant not provided [RCV001696382] Chr2:15327901 [GRCh38]
Chr2:15468025 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001669537] Chr2:15275401 [GRCh38]
Chr2:15415525 [GRCh37]
Chr2:2p24.3
benign
NM_000070.3(CAPN3):c.468C>T (p.Ile156=) single nucleotide variant not provided [RCV001699747] Chr2:15461703 [GRCh38]
Chr2:15601827 [GRCh37]
Chr2:2p24.3
uncertain significance
null insertion not provided [RCV001612497] Chr2:15396385..15396386 [GRCh38]
Chr2:15536509..15536510 [GRCh37]
Chr2:2p24.3
benign
null duplication not provided [RCV001690322] Chr2:15396738..15396739 [GRCh38]
Chr2:15536862..15536863 [GRCh37]
Chr2:2p24.3
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001679260] Chr2:15218707 [GRCh38]
Chr2:15358831 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001613610] Chr2:15167440 [GRCh38]
Chr2:15307564 [GRCh37]
Chr2:2p24.3
benign
null deletion not provided [RCV001696159] Chr2:15383184 [GRCh38]
Chr2:15523308 [GRCh37]
Chr2:2p24.3
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001685206] Chr2:15356545 [GRCh38]
Chr2:15496669 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001693802] Chr2:15468324 [GRCh38]
Chr2:15608448 [GRCh37]
Chr2:2p24.3
benign
null insertion not provided [RCV001694908] Chr2:15468147..15468148 [GRCh38]
Chr2:15608271..15608272 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001690749] Chr2:15308187 [GRCh38]
Chr2:15448311 [GRCh37]
Chr2:2p24.3
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001680544] Chr2:15380029 [GRCh38]
Chr2:15520153 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001690953] Chr2:15374348 [GRCh38]
Chr2:15514472 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.2617C>T (p.Arg873Trp) single nucleotide variant Infantile liver failure syndrome 2 [RCV001089503] Chr2:15417673 [GRCh38]
Chr2:15557797 [GRCh37]
Chr2:2p24.3
likely pathogenic
NM_015909.4(NBAS):c.2423+404G>C single nucleotide variant Infantile liver failure syndrome 2 [RCV001089504] Chr2:15427307 [GRCh38]
Chr2:15567431 [GRCh37]
Chr2:2p24.3
likely pathogenic
NM_015909.4(NBAS):c.1741C>T (p.Arg581Ter) single nucleotide variant Short stature, optic nerve atrophy, and Pelger-Huet anomaly [RCV001254351]|not provided [RCV001384260] Chr2:15468518 [GRCh38]
Chr2:15608642 [GRCh37]
Chr2:2p24.3
pathogenic|likely pathogenic
NM_015909.4(NBAS):c.6433-2A>G single nucleotide variant Short stature, optic nerve atrophy, and Pelger-Huet anomaly [RCV001251622] Chr2:15190405 [GRCh38]
Chr2:15330529 [GRCh37]
Chr2:2p24.3
pathogenic
null single nucleotide variant not provided [RCV001663265] Chr2:15287049 [GRCh38]
Chr2:15427173 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001641955] Chr2:15394518 [GRCh38]
Chr2:15534642 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001641685] Chr2:15503983 [GRCh38]
Chr2:15644107 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.8C>A (p.Ala3Asp) single nucleotide variant not provided [RCV001295226] Chr2:15561297 [GRCh38]
Chr2:15701421 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.5262del (p.Phe1754fs) deletion Infantile liver failure syndrome 2 [RCV001334881] Chr2:15276978 [GRCh38]
Chr2:15417102 [GRCh37]
Chr2:2p24.3
pathogenic
NM_015909.4(NBAS):c.6147-1G>T single nucleotide variant not provided [RCV001311545] Chr2:15232512 [GRCh38]
Chr2:15372636 [GRCh37]
Chr2:2p24.3
pathogenic
NM_015909.4(NBAS):c.6970C>T (p.Arg2324Cys) single nucleotide variant Infantile liver failure syndrome 2 [RCV001334883] Chr2:15167194 [GRCh38]
Chr2:15307318 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.1118T>C (p.Leu373Pro) single nucleotide variant Pituitary stalk interruption syndrome [RCV001257297] Chr2:15478255 [GRCh38]
Chr2:15618379 [GRCh37]
Chr2:2p24.3
uncertain significance
GRCh37/hg19 2p24.3(chr2:15621732-16226970)x3 copy number gain not provided [RCV001259157] Chr2:15621732..16226970 [GRCh37]
Chr2:2p24.3
pathogenic
NM_015909.4(NBAS):c.383C>T (p.Pro128Leu) single nucleotide variant not provided [RCV001297574] Chr2:15539353 [GRCh38]
Chr2:15679477 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.2056C>T (p.Arg686Trp) single nucleotide variant not provided [RCV001317994] Chr2:15467370 [GRCh38]
Chr2:15607494 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.647+4A>G single nucleotide variant not provided [RCV001306039] Chr2:15536414 [GRCh38]
Chr2:15676538 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.2893G>A (p.Asp965Asn) single nucleotide variant Short stature, optic nerve atrophy, and Pelger-Huet anomaly [RCV001334878] Chr2:15415590 [GRCh38]
Chr2:15555714 [GRCh37]
Chr2:2p24.3
uncertain significance
null insertion not provided [RCV001619933]|not specified [RCV001528471] Chr2:15554040..15554041 [GRCh38]
Chr2:15694164..15694165 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.5227A>G (p.Met1743Val) single nucleotide variant not provided [RCV001350291] Chr2:15277013 [GRCh38]
Chr2:15417137 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.3502G>A (p.Glu1168Lys) single nucleotide variant not provided [RCV001369893] Chr2:15379690 [GRCh38]
Chr2:15519814 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.4668T>C (p.Asp1556=) single nucleotide variant not provided [RCV001414427] Chr2:15308345 [GRCh38]
Chr2:15448469 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.8C>T (p.Ala3Val) single nucleotide variant not provided [RCV001296317] Chr2:15561297 [GRCh38]
Chr2:15701421 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.1871A>G (p.Asp624Gly) single nucleotide variant not provided [RCV001312955] Chr2:15468388 [GRCh38]
Chr2:15608512 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.5213C>T (p.Ala1738Val) single nucleotide variant not provided [RCV001371309] Chr2:15277027 [GRCh38]
Chr2:15417151 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.3860T>C (p.Leu1287Ser) single nucleotide variant not provided [RCV001360525] Chr2:15356374 [GRCh38]
Chr2:15496498 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.3659T>C (p.Val1220Ala) single nucleotide variant not provided [RCV001370249] Chr2:15374652 [GRCh38]
Chr2:15514776 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.5274G>A (p.Arg1758=) single nucleotide variant not provided [RCV001422673] Chr2:15276966 [GRCh38]
Chr2:15417090 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.270G>C (p.Trp90Cys) single nucleotide variant Infantile liver failure syndrome 2 [RCV001333894] Chr2:15554078 [GRCh38]
Chr2:15694202 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.6237-10T>C single nucleotide variant Infantile liver failure syndrome 2 [RCV001334882] Chr2:15218978 [GRCh38]
Chr2:15359102 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.4843C>T (p.Arg1615Ter) single nucleotide variant not provided [RCV001311546] Chr2:15292721 [GRCh38]
Chr2:15432845 [GRCh37]
Chr2:2p24.3
pathogenic
NM_015909.4(NBAS):c.7010C>T (p.Ala2337Val) single nucleotide variant not provided [RCV001371884] Chr2:15167154 [GRCh38]
Chr2:15307278 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.4280C>T (p.Ala1427Val) single nucleotide variant Infantile liver failure syndrome 2 [RCV001334880] Chr2:15330665 [GRCh38]
Chr2:15470789 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.3039C>A (p.Asp1013Glu) single nucleotide variant not provided [RCV001362687] Chr2:15402200 [GRCh38]
Chr2:15542324 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.3941A>G (p.Lys1314Arg) single nucleotide variant not provided [RCV001373734] Chr2:15353701 [GRCh38]
Chr2:15493825 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.4741C>A (p.Gln1581Lys) single nucleotide variant not provided [RCV001364798] Chr2:15308272 [GRCh38]
Chr2:15448396 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.5897A>C (p.Glu1966Ala) single nucleotide variant not provided [RCV001318578] Chr2:15238514 [GRCh38]
Chr2:15378638 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.3062G>C (p.Arg1021Thr) single nucleotide variant not provided [RCV001344785] Chr2:15402177 [GRCh38]
Chr2:15542301 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.3520G>A (p.Val1174Ile) single nucleotide variant not provided [RCV001371354] Chr2:15379672 [GRCh38]
Chr2:15519796 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.5741G>T (p.Arg1914Leu) single nucleotide variant not provided [RCV001364878] Chr2:15238670 [GRCh38]
Chr2:15378794 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.392C>T (p.Pro131Leu) single nucleotide variant not provided [RCV001324107] Chr2:15539344 [GRCh38]
Chr2:15679468 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.5071C>A (p.Gln1691Lys) single nucleotide variant not provided [RCV001358840] Chr2:15287140 [GRCh38]
Chr2:15427264 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.4031A>T (p.His1344Leu) single nucleotide variant Short stature, optic nerve atrophy, and Pelger-Huet anomaly [RCV001535504]|not provided [RCV001342771] Chr2:15353611 [GRCh38]
Chr2:15493735 [GRCh37]
Chr2:2p24.3
uncertain significance|not provided
NM_015909.4(NBAS):c.5357G>A (p.Arg1786Gln) single nucleotide variant not provided [RCV001345272] Chr2:15276883 [GRCh38]
Chr2:15417007 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.982C>T (p.Pro328Ser) single nucleotide variant not provided [RCV001341438] Chr2:15488995 [GRCh38]
Chr2:15629119 [GRCh37]
Chr2:2p24.3
uncertain significance
GRCh37/hg19 2p24.3-24.1(chr2:15640273-19609496)x1 copy number loss not provided [RCV001537913] Chr2:15640273..19609496 [GRCh37]
Chr2:2p24.3-24.1
pathogenic
NM_015909.4(NBAS):c.1438T>C (p.Ser480Pro) single nucleotide variant not provided [RCV001356194] Chr2:15474228 [GRCh38]
Chr2:15614352 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.3360+17A>G single nucleotide variant Short stature, optic nerve atrophy, and Pelger-Huet anomaly [RCV001334879] Chr2:15383198 [GRCh38]
Chr2:15523322 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_015909.4(NBAS):c.648-14C>T single nucleotide variant not provided [RCV001515520] Chr2:15534655 [GRCh38]
Chr2:15674779 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.4461+12G>A single nucleotide variant not provided [RCV001481718] Chr2:15328187 [GRCh38]
Chr2:15468311 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.2223G>A (p.Leu741=) single nucleotide variant not provided [RCV001521690]|not specified [RCV001528832] Chr2:15461317 [GRCh38]
Chr2:15601441 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.1386A>G (p.Arg462=) single nucleotide variant not provided [RCV001521691]|not specified [RCV001530106] Chr2:15474280 [GRCh38]
Chr2:15614404 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.1242T>C (p.Ser414=) single nucleotide variant not provided [RCV001521692]|not specified [RCV001528353] Chr2:15475786 [GRCh38]
Chr2:15615910 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.1148-9G>C single nucleotide variant not provided [RCV001521693]|not specified [RCV001528494] Chr2:15475889 [GRCh38]
Chr2:15616013 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.727A>G (p.Ile243Val) single nucleotide variant not provided [RCV001521694]|not specified [RCV001528502] Chr2:15534562 [GRCh38]
Chr2:15674686 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.5725-13_5725-12insATTA insertion not provided [RCV001515750]|not specified [RCV001528555] Chr2:15238698..15238699 [GRCh38]
Chr2:15378822..15378823 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.2990A>C (p.Glu997Ala) single nucleotide variant not provided [RCV001517488] Chr2:15402249 [GRCh38]
Chr2:15542373 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.7011C>T (p.Ala2337=) single nucleotide variant not provided [RCV001423240] Chr2:15167153 [GRCh38]
Chr2:15307277 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.3392G>A (p.Arg1131His) single nucleotide variant not provided [RCV001513553] Chr2:15379800 [GRCh38]
Chr2:15519924 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.514-11C>T single nucleotide variant not provided [RCV001518379]|not specified [RCV001528423] Chr2:15536562 [GRCh38]
Chr2:15676686 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.5796A>G (p.Pro1932=) single nucleotide variant not provided [RCV001514816] Chr2:15238615 [GRCh38]
Chr2:15378739 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.2937+19C>T single nucleotide variant not provided [RCV001519112] Chr2:15415527 [GRCh38]
Chr2:15555651 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.5727G>C (p.Leu1909=) single nucleotide variant not provided [RCV001513178] Chr2:15238684 [GRCh38]
Chr2:15378808 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.380-220A>G single nucleotide variant not provided [RCV001536950] Chr2:15539576 [GRCh38]
Chr2:15679700 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.1342-252GAA[12] microsatellite not provided [RCV001530596] Chr2:15474549..15474550 [GRCh38]
Chr2:15614673..15614674 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.2079T>C (p.Asp693=) single nucleotide variant not provided [RCV001410025] Chr2:15467347 [GRCh38]
Chr2:15607471 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.5984G>A (p.Arg1995Gln) single nucleotide variant not provided [RCV001397969] Chr2:15234707 [GRCh38]
Chr2:15374831 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.2827G>T (p.Glu943Ter) single nucleotide variant not provided [RCV001390101] Chr2:15415656 [GRCh38]
Chr2:15555780 [GRCh37]
Chr2:2p24.3
pathogenic
NM_015909.4(NBAS):c.4090-1G>A single nucleotide variant not provided [RCV001377096] Chr2:15352082 [GRCh38]
Chr2:15492206 [GRCh37]
Chr2:2p24.3
likely pathogenic
NM_015909.4(NBAS):c.1600-325G>A single nucleotide variant not provided [RCV001534704] Chr2:15473672 [GRCh38]
Chr2:15613796 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.2203-113G>A single nucleotide variant not provided [RCV001535280] Chr2:15461450 [GRCh38]
Chr2:15601574 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.3704-15G>A single nucleotide variant not provided [RCV001523687] Chr2:15366708 [GRCh38]
Chr2:15506832 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.4221G>A (p.Leu1407=) single nucleotide variant not provided [RCV001519417] Chr2:15330724 [GRCh38]
Chr2:15470848 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.209+252T>C single nucleotide variant not provided [RCV001541027] Chr2:15556531 [GRCh38]
Chr2:15696655 [GRCh37]
Chr2:2p24.3
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) microsatellite not provided [RCV001650311] Chr2:15474549..15474550 [GRCh38]
Chr2:15614673..15614674 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.1964A>G (p.Lys655Arg) single nucleotide variant not provided [RCV001519617]|not specified [RCV001529938] Chr2:15467718 [GRCh38]
Chr2:15607842 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.2424-20G>A single nucleotide variant not provided [RCV001519251] Chr2:15424488 [GRCh38]
Chr2:15564612 [GRCh37]
Chr2:2p24.3
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001679667] Chr2:15232607 [GRCh38]
Chr2:15372731 [GRCh37]
Chr2:2p24.3
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001648888] Chr2:15553664 [GRCh38]
Chr2:15693788 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.1147+11C>T single nucleotide variant not provided [RCV001515683]|not specified [RCV001528425] Chr2:15478215 [GRCh38]
Chr2:15618339 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.4090-10_4090-8del deletion not provided [RCV001510234] Chr2:15352089..15352091 [GRCh38]
Chr2:15492213..15492215 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.335+12T>G single nucleotide variant not provided [RCV001519873] Chr2:15553414 [GRCh38]
Chr2:15693538 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.915G>A (p.Met305Ile) single nucleotide variant not provided [RCV001515988] Chr2:15504184 [GRCh38]
Chr2:15644308 [GRCh37]
Chr2:2p24.3
benign
NM_000070.3(CAPN3):c.468C>T (p.Ile156=) single nucleotide variant not provided [RCV001699739] Chr2:15330645 [GRCh38]
Chr2:15470769 [GRCh37]
Chr2:2p24.3
uncertain significance
NM_001943.5(DSG2):c.1299T>C (p.Asp433=) duplication not provided [RCV001710272] Chr2:15551340..15551341 [GRCh38]
Chr2:15691464..15691465 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.1716G>A (p.Gln572=) single nucleotide variant not provided [RCV001500429] Chr2:15473231 [GRCh38]
Chr2:15613355 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.1611A>G (p.Glu537=) single nucleotide variant not provided [RCV001511312] Chr2:15473336 [GRCh38]
Chr2:15613460 [GRCh37]
Chr2:2p24.3
benign
NM_000371.3(TTR):c.372C>G (p.Arg124=) single nucleotide variant not provided [RCV001512324]|not specified [RCV001699562] Chr2:15309159 [GRCh38]
Chr2:15449283 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.3011G>A (p.Arg1004Gln) single nucleotide variant not provided [RCV001522104] Chr2:15402228 [GRCh38]
Chr2:15542352 [GRCh37]
Chr2:2p24.3
benign
NM_000371.3(TTR):c.372C>G (p.Arg124=) single nucleotide variant not provided [RCV001698864] Chr2:15424594 [GRCh38]
Chr2:15564718 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001670690] Chr2:15504092 [GRCh38]
Chr2:15644216 [GRCh37]
Chr2:2p24.3
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant not provided [RCV001715955] Chr2:15166737 [GRCh38]
Chr2:15306861 [GRCh37]
Chr2:2p24.3
benign
null deletion not provided [RCV001613753] Chr2:15558542 [GRCh38]
Chr2:15698666 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.5944-16T>C single nucleotide variant not provided [RCV001518233] Chr2:15234763 [GRCh38]
Chr2:15374887 [GRCh37]
Chr2:2p24.3
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) deletion not provided [RCV001650014] Chr2:15178947 [GRCh38]
Chr2:15319071 [GRCh37]
Chr2:2p24.3
benign
NM_001943.5(DSG2):c.1299T>C (p.Asp433=) single nucleotide variant not provided [RCV001708715] Chr2:15356584 [GRCh38]
Chr2:15496708 [GRCh37]
Chr2:2p24.3
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001687580] Chr2:15328412 [GRCh38]
Chr2:15468536 [GRCh37]
Chr2:2p24.3
benign
null single nucleotide variant not provided [RCV001692676] Chr2:15374858 [GRCh38]
Chr2:15514982 [GRCh37]
Chr2:2p24.3
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001648399] Chr2:15374337 [GRCh38]
Chr2:15514461 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.3134+15A>G single nucleotide variant not provided [RCV001512656] Chr2:15396398 [GRCh38]
Chr2:15536522 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.6572+13A>G single nucleotide variant not provided [RCV001456741] Chr2:15190251 [GRCh38]
Chr2:15330375 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.288-11C>G single nucleotide variant not provided [RCV001513077] Chr2:15553484 [GRCh38]
Chr2:15693608 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.6220G>A (p.Ala2074Thr) single nucleotide variant not provided [RCV001516570] Chr2:15232438 [GRCh38]
Chr2:15372562 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.4359T>G (p.Cys1453Trp) single nucleotide variant not provided [RCV001512503] Chr2:15328301 [GRCh38]
Chr2:15468425 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.1239A>G (p.Ser413=) single nucleotide variant not provided [RCV001498842] Chr2:15475789 [GRCh38]
Chr2:15615913 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.1215A>G (p.Arg405=) single nucleotide variant not provided [RCV001521355] Chr2:15475813 [GRCh38]
Chr2:15615937 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.3026G>C (p.Cys1009Ser) single nucleotide variant not provided [RCV001511309] Chr2:15402213 [GRCh38]
Chr2:15542337 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.2845G>C (p.Val949Leu) single nucleotide variant not provided [RCV001511310] Chr2:15415638 [GRCh38]
Chr2:15555762 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.2775T>C (p.Asp925=) single nucleotide variant not provided [RCV001511311] Chr2:15415708 [GRCh38]
Chr2:15555832 [GRCh37]
Chr2:2p24.3
benign
NM_015909.4(NBAS):c.3180A>C (p.Ser1060=) single nucleotide variant not provided [RCV001461593] Chr2:15394304 [GRCh38]
Chr2:15534428 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.4144A>G (p.Ser1382Gly) single nucleotide variant not provided [RCV001482466] Chr2:15352027 [GRCh38]
Chr2:15492151 [GRCh37]
Chr2:2p24.3
likely benign
NM_015909.4(NBAS):c.3833A>G (p.Glu1278Gly) single nucleotide variant not provided [RCV001455099] Chr2:15356401 [GRCh38]
Chr2:15496525 [GRCh37]
Chr2:2p24.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15625 AgrOrtholog
COSMIC NBAS COSMIC
Ensembl Genes ENSG00000151779 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000281513 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000390920 UniProtKB/TrEMBL
  ENSP00000391476 UniProtKB/TrEMBL
  ENSP00000392421 UniProtKB/TrEMBL
  ENSP00000396501 UniProtKB/TrEMBL
  ENSP00000398411 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000402458 UniProtKB/TrEMBL
  ENSP00000403119 UniProtKB/TrEMBL
Ensembl Transcript ENST00000281513 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000417461 UniProtKB/TrEMBL
  ENST00000423602 UniProtKB/TrEMBL
  ENST00000427792 UniProtKB/TrEMBL
  ENST00000429842 UniProtKB/TrEMBL
  ENST00000433283 UniProtKB/TrEMBL
  ENST00000441755 UniProtKB/TrEMBL
  ENST00000442506 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000151779 GTEx
HGNC ID HGNC:15625 ENTREZGENE
Human Proteome Map NBAS Human Proteome Map
InterPro ARM-type_fold UniProtKB/TrEMBL
  NBAS_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Quino_amine_DH_bsu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec39_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WD40_repeat_dom_sf UniProtKB/TrEMBL
KEGG Report hsa:51594 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 51594 ENTREZGENE
OMIM 608025 OMIM
  614800 OMIM
  616483 OMIM
Pfam Nbas_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec39 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164723457 PharmGKB
Superfamily-SCOP SSF48371 UniProtKB/TrEMBL
  SSF50969 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50978 UniProtKB/TrEMBL
UniProt A2RRP1 ENTREZGENE
  C9JCM7_HUMAN UniProtKB/TrEMBL
  G1UI26 ENTREZGENE, UniProtKB/TrEMBL
  H0Y5G7_HUMAN UniProtKB/TrEMBL
  H7BZR3_HUMAN UniProtKB/TrEMBL
  H7BZU5_HUMAN UniProtKB/TrEMBL
  H7C007_HUMAN UniProtKB/TrEMBL
  H7C1U4_HUMAN UniProtKB/TrEMBL
  H7C1Y9_HUMAN UniProtKB/TrEMBL
  L8E9V8_HUMAN UniProtKB/TrEMBL
  NBAS_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary O95790 UniProtKB/Swiss-Prot
  Q2VPJ7 UniProtKB/Swiss-Prot
  Q53TK6 UniProtKB/Swiss-Prot
  Q86V39 UniProtKB/Swiss-Prot
  Q8NFY8 UniProtKB/Swiss-Prot
  Q9Y3W5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-08-06 NBAS  NBAS subunit of NRZ tethering complex  NBAS  neuroblastoma amplified sequence  Symbol and/or name change 5135510 APPROVED