MYBBP1A (MYB binding protein 1a) - Rat Genome Database

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Gene: MYBBP1A (MYB binding protein 1a) Homo sapiens
Analyze
Symbol: MYBBP1A
Name: MYB binding protein 1a
RGD ID: 69133
HGNC Page HGNC:7546
Description: Enables RNA binding activity. Involved in several processes, including cellular response to glucose starvation; positive regulation of anoikis; and positive regulation of transcription by RNA polymerase III. Acts upstream of with a negative effect on regulation of G1 to G0 transition. Located in nucleolus. Part of B-WICH complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ37886; MYB binding protein (P160) 1a; myb-binding protein 1A; P160; p53-activated protein-2; PAP2; Pol5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38174,538,904 - 4,555,384 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl174,538,897 - 4,555,386 (-)EnsemblGRCh38hg38GRCh38
GRCh37174,442,199 - 4,458,679 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36174,388,940 - 4,405,430 (-)NCBINCBI36Build 36hg18NCBI36
Build 34174,388,949 - 4,405,393NCBI
Celera174,454,387 - 4,470,874 (-)NCBICelera
Cytogenetic Map17p13.2NCBI
HuRef174,331,585 - 4,348,073 (-)NCBIHuRef
CHM1_1174,451,000 - 4,467,488 (-)NCBICHM1_1
T2T-CHM13v2.0174,428,802 - 4,445,280 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-alpha-phellandrene  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
acrolein  (EXP)
acrylamide  (EXP)
aflatoxin B1  (ISO)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (ISO)
alpha-phellandrene  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (ISO)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
Brodifacoum  (ISO)
caffeine  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP,ISO)
clofibric acid  (ISO)
clozapine  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (EXP)
coumarin  (EXP)
CU-O LINKAGE  (EXP)
cyclosporin A  (EXP,ISO)
DDE  (EXP)
decabromodiphenyl ether  (EXP)
deoxynivalenol  (ISO)
diarsenic trioxide  (EXP)
dicrotophos  (EXP)
dioxygen  (EXP,ISO)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
flutamide  (ISO)
FR900359  (EXP)
genistein  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
ivermectin  (EXP)
methotrexate  (ISO)
methyl methanesulfonate  (EXP)
methylparaben  (EXP)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
ozone  (EXP,ISO)
paracetamol  (ISO)
paraquat  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
resveratrol  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
thioacetamide  (ISO)
tipifarnib  (ISO)
titanium dioxide  (EXP,ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8302594   PMID:8889548   PMID:9447996   PMID:10607837   PMID:10644447   PMID:11230166   PMID:11779876   PMID:11790298   PMID:12171929   PMID:12429849   PMID:12477932   PMID:12769854  
PMID:12777385   PMID:14676191   PMID:14702039   PMID:14744933   PMID:15302935   PMID:15489334   PMID:15635413   PMID:16210410   PMID:16413759   PMID:16565220   PMID:16603771   PMID:16964243  
PMID:17081983   PMID:17196614   PMID:17314511   PMID:17353931   PMID:17932509   PMID:18029348   PMID:18059336   PMID:18660489   PMID:19276281   PMID:19321449   PMID:19596686   PMID:19602484  
PMID:19928837   PMID:19946888   PMID:20020773   PMID:20085707   PMID:20177074   PMID:20211142   PMID:20348541   PMID:20360068   PMID:20467437   PMID:20810990   PMID:21145461   PMID:21182205  
PMID:21244100   PMID:21297583   PMID:21386990   PMID:21471221   PMID:21531708   PMID:21654808   PMID:21832049   PMID:21873635   PMID:21907836   PMID:22147730   PMID:22174317   PMID:22339894  
PMID:22586326   PMID:22645127   PMID:22658674   PMID:22681889   PMID:22686419   PMID:22751105   PMID:22939629   PMID:22952844   PMID:23056166   PMID:23125841   PMID:23129390   PMID:23178491  
PMID:23209159   PMID:23240041   PMID:23388179   PMID:23555303   PMID:23583237   PMID:23602568   PMID:24134843   PMID:24175631   PMID:24375404   PMID:24457600   PMID:24639526   PMID:24711643  
PMID:24923560   PMID:24981860   PMID:25010285   PMID:25303791   PMID:25315684   PMID:25543088   PMID:25612917   PMID:25665578   PMID:25798074   PMID:25825154   PMID:25921289   PMID:25948554  
PMID:26044184   PMID:26044764   PMID:26186194   PMID:26344197   PMID:26446488   PMID:26472760   PMID:26496610   PMID:26549023   PMID:26760575   PMID:26816005   PMID:26831064   PMID:27049334  
PMID:27173435   PMID:27248496   PMID:27634302   PMID:27684187   PMID:27880917   PMID:28302793   PMID:28330616   PMID:28416769   PMID:28514442   PMID:28515276   PMID:28655758   PMID:28685749  
PMID:28902428   PMID:28977666   PMID:29117863   PMID:29128334   PMID:29180619   PMID:29229926   PMID:29298432   PMID:29331416   PMID:29449217   PMID:29459360   PMID:29467282   PMID:29478914  
PMID:29507755   PMID:29511296   PMID:29547122   PMID:29568061   PMID:29802200   PMID:29844126   PMID:29845934   PMID:29911972   PMID:29955894   PMID:29991511   PMID:30021884   PMID:30196744  
PMID:30209976   PMID:30258100   PMID:30274258   PMID:30404004   PMID:30415952   PMID:30462309   PMID:30463901   PMID:30554943   PMID:30575818   PMID:30585729   PMID:30804502   PMID:30884312  
PMID:30940648   PMID:30948266   PMID:31048545   PMID:31059266   PMID:31066170   PMID:31073040   PMID:31091453   PMID:31180492   PMID:31343991   PMID:31586073   PMID:31620119   PMID:31665637  
PMID:31685992   PMID:31822558   PMID:31871319   PMID:31980649   PMID:31995728   PMID:32129710   PMID:32160526   PMID:32416067   PMID:32433965   PMID:32513696   PMID:32529326   PMID:32538781  
PMID:32665550   PMID:32687490   PMID:32698014   PMID:32780723   PMID:32807901   PMID:32877691   PMID:32971831   PMID:33005030   PMID:33022573   PMID:33024031   PMID:33226137   PMID:33239621  
PMID:33301849   PMID:33306668   PMID:33397691   PMID:33568778   PMID:33644029   PMID:33658012   PMID:33729478   PMID:33731348   PMID:33766124   PMID:33916271   PMID:33957083   PMID:33961781  
PMID:34029587   PMID:34079125   PMID:34091597   PMID:34244482   PMID:34244565   PMID:34316702   PMID:34349018   PMID:34373451   PMID:34591612   PMID:34650049   PMID:34718347   PMID:34728620  
PMID:34901782   PMID:35013218   PMID:35032548   PMID:35140242   PMID:35253629   PMID:35256949   PMID:35271311   PMID:35439318   PMID:35446349   PMID:35485735   PMID:35487060   PMID:35509820  
PMID:35563538   PMID:35575683   PMID:35676659   PMID:35776542   PMID:35785414   PMID:35819319   PMID:35833506   PMID:35844135   PMID:35850772   PMID:35915203   PMID:35941108   PMID:35944360  
PMID:36057605   PMID:36114006   PMID:36180527   PMID:36180891   PMID:36199071   PMID:36215168   PMID:36243803   PMID:36244648   PMID:36273042   PMID:36373674   PMID:36424410   PMID:36526897  
PMID:36574265   PMID:36597993   PMID:36634849   PMID:36880596   PMID:36912080   PMID:37001908   PMID:37071682   PMID:37117185   PMID:37167062   PMID:37267103   PMID:37298588   PMID:37616343  
PMID:37704626   PMID:37827155   PMID:38113892   PMID:38280479   PMID:38697112  


Genomics

Comparative Map Data
MYBBP1A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38174,538,904 - 4,555,384 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl174,538,897 - 4,555,386 (-)EnsemblGRCh38hg38GRCh38
GRCh37174,442,199 - 4,458,679 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36174,388,940 - 4,405,430 (-)NCBINCBI36Build 36hg18NCBI36
Build 34174,388,949 - 4,405,393NCBI
Celera174,454,387 - 4,470,874 (-)NCBICelera
Cytogenetic Map17p13.2NCBI
HuRef174,331,585 - 4,348,073 (-)NCBIHuRef
CHM1_1174,451,000 - 4,467,488 (-)NCBICHM1_1
T2T-CHM13v2.0174,428,802 - 4,445,280 (-)NCBIT2T-CHM13v2.0
Mybbp1a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391172,332,153 - 72,342,596 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1172,332,181 - 72,342,594 (+)EnsemblGRCm39 Ensembl
GRCm381172,441,327 - 72,451,770 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1172,441,355 - 72,451,768 (+)EnsemblGRCm38mm10GRCm38
MGSCv371172,254,880 - 72,265,052 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361172,257,573 - 72,267,745 (+)NCBIMGSCv36mm8
Celera1179,961,852 - 79,972,017 (+)NCBICelera
Cytogenetic Map11B4NCBI
cM Map1144.29NCBI
Mybbp1a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81057,555,458 - 57,565,819 (+)NCBIGRCr8
mRatBN7.21057,056,897 - 57,067,258 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1057,056,874 - 57,067,255 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1061,720,100 - 61,730,461 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01061,208,580 - 61,218,941 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01056,707,662 - 56,718,023 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01059,000,400 - 59,010,794 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1059,000,397 - 59,010,903 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01058,739,440 - 58,749,828 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41059,325,648 - 59,335,604 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11059,339,270 - 59,349,227 (+)NCBI
Celera1056,183,820 - 56,193,776 (+)NCBICelera
Cytogenetic Map10q24NCBI
Mybbp1a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546712,390,037 - 12,404,971 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546712,390,371 - 12,405,055 (+)NCBIChiLan1.0ChiLan1.0
MYBBP1A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21912,155,536 - 12,172,025 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11714,123,960 - 14,140,372 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0174,593,741 - 4,610,203 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1174,586,431 - 4,603,097 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl174,586,431 - 4,603,097 (-)Ensemblpanpan1.1panPan2
MYBBP1A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1530,528,141 - 30,538,815 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl530,526,720 - 30,539,483 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha530,724,027 - 30,735,636 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0530,628,664 - 30,640,227 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl530,628,666 - 30,640,228 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1530,594,735 - 30,607,922 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0530,553,266 - 30,564,853 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0530,726,713 - 30,738,313 (-)NCBIUU_Cfam_GSD_1.0
Mybbp1a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560254,792,432 - 54,805,953 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366771,095,420 - 1,108,496 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366771,095,022 - 1,108,545 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MYBBP1A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1250,491,044 - 50,506,050 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11250,491,042 - 50,506,085 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21252,489,615 - 52,504,655 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MYBBP1A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1164,019,823 - 4,036,811 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl164,016,222 - 4,036,782 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605917,624,771 - 17,641,765 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mybbp1a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247867,103,811 - 7,118,569 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MYBBP1A
133 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1 copy number loss See cases [RCV000053384] Chr17:193307..5652222 [GRCh38]
Chr17:45835..5555542 [GRCh37]
Chr17:43098..5496266 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1 copy number loss See cases [RCV000053406] Chr17:3601515..7178024 [GRCh38]
Chr17:3504809..7081343 [GRCh37]
Chr17:3451558..7022067 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
GRCh38/hg38 17p13.2(chr17:4141725-4841701)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054003]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054003]|See cases [RCV000054003] Chr17:4141725..4841701 [GRCh38]
Chr17:4045019..4744996 [GRCh37]
Chr17:3991768..4691654 [NCBI36]
Chr17:17p13.2		 uncertain significance
GRCh38/hg38 17p13.2(chr17:4201600-4574195)x3 copy number gain See cases [RCV000054004] Chr17:4201600..4574195 [GRCh38]
Chr17:4104895..4477490 [GRCh37]
Chr17:4051644..4424239 [NCBI36]
Chr17:17p13.2		 uncertain significance
NM_001105538.1(MYBBP1A):c.3666C>T (p.Ala1222=) single nucleotide variant Malignant melanoma [RCV000071539] Chr17:4539736 [GRCh38]
Chr17:4443031 [GRCh37]
Chr17:4389780 [NCBI36]
Chr17:17p13.2		 not provided
NM_001105538.1(MYBBP1A):c.843C>T (p.Phe281=) single nucleotide variant Malignant melanoma [RCV000071540] Chr17:4552187 [GRCh38]
Chr17:4455482 [GRCh37]
Chr17:4402231 [NCBI36]
Chr17:17p13.2		 not provided
NM_001122890.2(GGT6):c.165A>T (p.Gly55=) single nucleotide variant Malignant melanoma [RCV000063238] Chr17:4559736 [GRCh38]
Chr17:4463031 [GRCh37]
Chr17:4409780 [NCBI36]
Chr17:17p13.2		 not provided
NM_014520.4(MYBBP1A):c.3587C>T (p.Thr1196Ile) single nucleotide variant not specified [RCV004250380] Chr17:4539815 [GRCh38]
Chr17:4443110 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1 copy number loss See cases [RCV000133721] Chr17:2062380..5258340 [GRCh38]
Chr17:1965674..5161635 [GRCh37]
Chr17:1912424..5102359 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 copy number loss See cases [RCV000134135] Chr17:162088..6959050 [GRCh38]
Chr17:45835..6862369 [GRCh37]
Chr17:11879..6803093 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.2(chr17:4217106-4538953)x3 copy number gain See cases [RCV000135383] Chr17:4217106..4538953 [GRCh38]
Chr17:4120401..4442248 [GRCh37]
Chr17:4067150..4388997 [NCBI36]
Chr17:17p13.2		 uncertain significance
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.2(chr17:4044302-4616762)x3 copy number gain See cases [RCV000134891] Chr17:4044302..4616762 [GRCh38]
Chr17:3947596..4520057 [GRCh37]
Chr17:3894345..4466806 [NCBI36]
Chr17:17p13.2		 uncertain significance
GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1 copy number loss See cases [RCV000135548] Chr17:4044302..5943772 [GRCh38]
Chr17:3947596..5847092 [GRCh37]
Chr17:3894345..5787816 [NCBI36]
Chr17:17p13.2		 likely pathogenic
GRCh38/hg38 17p13.2(chr17:4289368-4634221)x3 copy number gain See cases [RCV000137021] Chr17:4289368..4634221 [GRCh38]
Chr17:4192663..4537516 [GRCh37]
Chr17:4139412..4484265 [NCBI36]
Chr17:17p13.2		 uncertain significance
GRCh38/hg38 17p13.2(chr17:4141725-4778120)x1 copy number loss See cases [RCV000137514] Chr17:4141725..4778120 [GRCh38]
Chr17:4045019..4681415 [GRCh37]
Chr17:3991768..4628164 [NCBI36]
Chr17:17p13.2		 uncertain significance
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3 copy number gain See cases [RCV000139650] Chr17:4092608..5354473 [GRCh38]
Chr17:3995902..5257768 [GRCh37]
Chr17:3942651..5198492 [NCBI36]
Chr17:17p13.2		 likely benign
GRCh38/hg38 17p13.2(chr17:3928523-4637233)x3 copy number gain See cases [RCV000142018] Chr17:3928523..4637233 [GRCh38]
Chr17:3831817..4540528 [GRCh37]
Chr17:3778566..4487277 [NCBI36]
Chr17:17p13.2		 likely benign|uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1 copy number loss See cases [RCV000141658] Chr17:150732..5935377 [GRCh38]
Chr17:525..5838697 [GRCh37]
Chr17:525..5779421 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1 copy number loss See cases [RCV000141559] Chr17:237248..4735533 [GRCh38]
Chr17:396627..4638828 [GRCh37]
Chr17:87039..4585577 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.2(chr17:4141725-4873241)x3 copy number gain See cases [RCV000143014] Chr17:4141725..4873241 [GRCh38]
Chr17:4045019..4776536 [GRCh37]
Chr17:3991768..4722711 [NCBI36]
Chr17:17p13.2		 uncertain significance
GRCh38/hg38 17p13.2(chr17:4378892-4687204)x1 copy number loss See cases [RCV000143273] Chr17:4378892..4687204 [GRCh38]
Chr17:4282187..4590499 [GRCh37]
Chr17:4228936..4537248 [NCBI36]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.139C>T (p.Gln47Ter) single nucleotide variant Autism [RCV000186215] Chr17:4555186 [GRCh38]
Chr17:4458481 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.208A>G (p.Met70Val) single nucleotide variant not specified [RCV004324460] Chr17:4554947 [GRCh38]
Chr17:4458242 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:4383678-4463122)x1 copy number loss See cases [RCV000447615] Chr17:4383678..4463122 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:1751557-5378509)x1 copy number loss See cases [RCV000445994] Chr17:1751557..5378509 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486) copy number gain See cases [RCV000445679] Chr17:1113102..6742486 [GRCh37]
Chr17:17p13.3-13.1		 pathogenic
GRCh37/hg19 17p13.2(chr17:4442248-4544930)x3 copy number gain See cases [RCV000445704] Chr17:4442248..4544930 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:4389607-4829150)x3 copy number gain See cases [RCV000448511] Chr17:4389607..4829150 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12		 pathogenic
NM_014520.4(MYBBP1A):c.3397G>C (p.Asp1133His) single nucleotide variant not specified [RCV004284231] Chr17:4540385 [GRCh38]
Chr17:4443680 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.592C>A (p.Pro198Thr) single nucleotide variant not specified [RCV004328567] Chr17:4552596 [GRCh38]
Chr17:4455891 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2176G>A (p.Gly726Ser) single nucleotide variant not specified [RCV004326091] Chr17:4545160 [GRCh38]
Chr17:4448455 [GRCh37]
Chr17:17p13.2		 likely benign
NM_014520.4(MYBBP1A):c.1842T>G (p.Cys614Trp) single nucleotide variant not specified [RCV004295258] Chr17:4545925 [GRCh38]
Chr17:4449220 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.2(chr17:4036861-5174346)x3 copy number gain not provided [RCV000683881] Chr17:4036861..5174346 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.2(chr17:3336162-4918458)x1 copy number loss not provided [RCV000739374] Chr17:3336162..4918458 [GRCh37]
Chr17:17p13.2		 likely pathogenic
NM_014520.4(MYBBP1A):c.199-5C>T single nucleotide variant not provided [RCV000958721] Chr17:4554961 [GRCh38]
Chr17:4458256 [GRCh37]
Chr17:17p13.2		 benign
NM_014520.4(MYBBP1A):c.2629C>T (p.Arg877Cys) single nucleotide variant not provided [RCV000972323] Chr17:4544499 [GRCh38]
Chr17:4447794 [GRCh37]
Chr17:17p13.2		 benign
NM_014520.4(MYBBP1A):c.2379C>T (p.Leu793=) single nucleotide variant not provided [RCV000969310] Chr17:4544853 [GRCh38]
Chr17:4448148 [GRCh37]
Chr17:17p13.2		 benign
NM_014520.4(MYBBP1A):c.1233G>A (p.Arg411=) single nucleotide variant not provided [RCV000969311] Chr17:4550144 [GRCh38]
Chr17:4453439 [GRCh37]
Chr17:17p13.2		 benign
NM_014520.4(MYBBP1A):c.2478C>A (p.Ile826=) single nucleotide variant not provided [RCV000881612] Chr17:4544754 [GRCh38]
Chr17:4448049 [GRCh37]
Chr17:17p13.2		 benign
NM_014520.4(MYBBP1A):c.3205G>A (p.Val1069Met) single nucleotide variant not provided [RCV000947757] Chr17:4541555 [GRCh38]
Chr17:4444850 [GRCh37]
Chr17:17p13.2		 benign
NM_014520.4(MYBBP1A):c.3492C>T (p.Pro1164=) single nucleotide variant not provided [RCV000881412] Chr17:4539910 [GRCh38]
Chr17:4443205 [GRCh37]
Chr17:17p13.2		 benign
NM_014520.4(MYBBP1A):c.2242C>A (p.Arg748Ser) single nucleotide variant not provided [RCV000963804] Chr17:4545094 [GRCh38]
Chr17:4448389 [GRCh37]
Chr17:17p13.2		 benign
NM_014520.4(MYBBP1A):c.1825-4G>A single nucleotide variant not provided [RCV000963806] Chr17:4545946 [GRCh38]
Chr17:4449241 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_014520.4(MYBBP1A):c.3317C>T (p.Thr1106Met) single nucleotide variant not provided [RCV000969823] Chr17:4540465 [GRCh38]
Chr17:4443760 [GRCh37]
Chr17:17p13.2		 likely benign
NM_014520.4(MYBBP1A):c.2688C>T (p.Arg896=) single nucleotide variant not provided [RCV000963150] Chr17:4543117 [GRCh38]
Chr17:4446412 [GRCh37]
Chr17:17p13.2		 benign|likely benign
GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620) copy number gain Chromosome 17P13.3, telomeric, duplication syndrome [RCV000767586] Chr17:47546..6287620 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_014520.4(MYBBP1A):c.999C>T (p.Tyr333=) single nucleotide variant not provided [RCV000894574] Chr17:4551904 [GRCh38]
Chr17:4455199 [GRCh37]
Chr17:17p13.2		 likely benign
NM_014520.4(MYBBP1A):c.3896A>G (p.Lys1299Arg) single nucleotide variant not provided [RCV000947756] Chr17:4539506 [GRCh38]
Chr17:4442801 [GRCh37]
Chr17:17p13.2		 benign
GRCh37/hg19 17p13.2(chr17:3961616-4525393)x3 copy number gain not provided [RCV000847283] Chr17:3961616..4525393 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1 copy number loss not provided [RCV000849625] Chr17:3759126..6128911 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1 copy number loss See cases [RCV001007429] Chr17:8547..5627408 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_014520.4(MYBBP1A):c.2737C>T (p.Arg913Cys) single nucleotide variant not specified [RCV004293201] Chr17:4543068 [GRCh38]
Chr17:4446363 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3506G>A (p.Arg1169Gln) single nucleotide variant not specified [RCV004313842] Chr17:4539896 [GRCh38]
Chr17:4443191 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2757C>T (p.Thr919=) single nucleotide variant not provided [RCV000892168] Chr17:4543048 [GRCh38]
Chr17:4446343 [GRCh37]
Chr17:17p13.2		 likely benign
NM_014520.4(MYBBP1A):c.2234A>G (p.Glu745Gly) single nucleotide variant not provided [RCV000963805] Chr17:4545102 [GRCh38]
Chr17:4448397 [GRCh37]
Chr17:17p13.2		 benign
NM_014520.4(MYBBP1A):c.2394C>T (p.Ala798=) single nucleotide variant not provided [RCV000953034] Chr17:4544838 [GRCh38]
Chr17:4448133 [GRCh37]
Chr17:17p13.2		 benign
NM_014520.4(MYBBP1A):c.3766C>T (p.Gln1256Ter) single nucleotide variant not provided [RCV000887501] Chr17:4539636 [GRCh38]
Chr17:4442931 [GRCh37]
Chr17:17p13.2		 benign
NM_014520.4(MYBBP1A):c.1912A>G (p.Lys638Glu) single nucleotide variant not provided [RCV000961451] Chr17:4545855 [GRCh38]
Chr17:4449150 [GRCh37]
Chr17:17p13.2		 benign
NM_014520.4(MYBBP1A):c.3424C>G (p.Leu1142Val) single nucleotide variant not provided [RCV000915286] Chr17:4540358 [GRCh38]
Chr17:4443653 [GRCh37]
Chr17:17p13.2		 likely benign
NM_014520.4(MYBBP1A):c.2482G>C (p.Val828Leu) single nucleotide variant not provided [RCV000974291] Chr17:4544646 [GRCh38]
Chr17:4447941 [GRCh37]
Chr17:17p13.2		 likely benign
NM_014520.4(MYBBP1A):c.2311-15_2311-8dup duplication not provided [RCV000898189] Chr17:4544928..4544929 [GRCh38]
Chr17:4448223..4448224 [GRCh37]
Chr17:17p13.2		 benign
NM_014520.4(MYBBP1A):c.1493A>G (p.Lys498Arg) single nucleotide variant not provided [RCV000887070] Chr17:4548587 [GRCh38]
Chr17:4451882 [GRCh37]
Chr17:17p13.2		 benign
NM_014520.4(MYBBP1A):c.1009G>A (p.Val337Met) single nucleotide variant not provided [RCV000899017] Chr17:4551894 [GRCh38]
Chr17:4455189 [GRCh37]
Chr17:17p13.2		 likely benign
NM_014520.4(MYBBP1A):c.2214C>T (p.Ser738=) single nucleotide variant not provided [RCV000924837] Chr17:4545122 [GRCh38]
Chr17:4448417 [GRCh37]
Chr17:17p13.2		 likely benign
NM_014520.4(MYBBP1A):c.26C>T (p.Pro9Leu) single nucleotide variant not provided [RCV000890220] Chr17:4555299 [GRCh38]
Chr17:4458594 [GRCh37]
Chr17:17p13.2		 benign
NM_014520.4(MYBBP1A):c.84A>G (p.Leu28=) single nucleotide variant not provided [RCV000912554] Chr17:4555241 [GRCh38]
Chr17:4458536 [GRCh37]
Chr17:17p13.2		 benign
NM_014520.4(MYBBP1A):c.22C>G (p.Gln8Glu) single nucleotide variant not provided [RCV001539635] Chr17:4555303 [GRCh38]
Chr17:4458598 [GRCh37]
Chr17:17p13.2		 benign
GRCh37/hg19 17p13.2(chr17:4245304-4581861)x3 copy number gain not provided [RCV001006863] Chr17:4245304..4581861 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:3933998-4581861)x3 copy number gain not provided [RCV001006862] Chr17:3933998..4581861 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:3995902-4511207)x3 copy number gain not provided [RCV001825227] Chr17:3995902..4511207 [GRCh37]
Chr17:17p13.2		 not provided
GRCh37/hg19 17p13.2(chr17:4113551-5023913) copy number loss not specified [RCV002052580] Chr17:4113551..5023913 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1513T>G (p.Leu505Val) single nucleotide variant not specified [RCV004320021] Chr17:4548567 [GRCh38]
Chr17:4451862 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.50A>G (p.Gln17Arg) single nucleotide variant not specified [RCV004207131] Chr17:4555275 [GRCh38]
Chr17:4458570 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.868G>A (p.Glu290Lys) single nucleotide variant not specified [RCV004193724] Chr17:4552162 [GRCh38]
Chr17:4455457 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2630G>A (p.Arg877His) single nucleotide variant not specified [RCV004078879] Chr17:4544498 [GRCh38]
Chr17:4447793 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2054C>T (p.Ala685Val) single nucleotide variant not specified [RCV004183238] Chr17:4545629 [GRCh38]
Chr17:4448924 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.970G>C (p.Val324Leu) single nucleotide variant not specified [RCV004164728] Chr17:4551933 [GRCh38]
Chr17:4455228 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.80G>A (p.Gly27Asp) single nucleotide variant not specified [RCV004229918] Chr17:4555245 [GRCh38]
Chr17:4458540 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3043A>G (p.Ile1015Val) single nucleotide variant not specified [RCV004137782] Chr17:4542508 [GRCh38]
Chr17:4445803 [GRCh37]
Chr17:17p13.2		 likely benign
NM_014520.4(MYBBP1A):c.443G>A (p.Arg148Gln) single nucleotide variant not specified [RCV004191137] Chr17:4554029 [GRCh38]
Chr17:4457324 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3773C>T (p.Pro1258Leu) single nucleotide variant not specified [RCV004212991] Chr17:4539629 [GRCh38]
Chr17:4442924 [GRCh37]
Chr17:17p13.2		 likely benign
NM_014520.4(MYBBP1A):c.391C>A (p.Pro131Thr) single nucleotide variant not specified [RCV004140000] Chr17:4554081 [GRCh38]
Chr17:4457376 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1250C>G (p.Pro417Arg) single nucleotide variant not specified [RCV004223879] Chr17:4550127 [GRCh38]
Chr17:4453422 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1168A>G (p.Thr390Ala) single nucleotide variant not specified [RCV004100890] Chr17:4550209 [GRCh38]
Chr17:4453504 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.902C>A (p.Ala301Asp) single nucleotide variant not specified [RCV004105849] Chr17:4552128 [GRCh38]
Chr17:4455423 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2048C>T (p.Pro683Leu) single nucleotide variant not specified [RCV004211818] Chr17:4545635 [GRCh38]
Chr17:4448930 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3436C>T (p.Arg1146Cys) single nucleotide variant not specified [RCV004093146] Chr17:4539966 [GRCh38]
Chr17:4443261 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1522C>A (p.Gln508Lys) single nucleotide variant not specified [RCV004170539] Chr17:4548558 [GRCh38]
Chr17:4451853 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3889C>T (p.Arg1297Trp) single nucleotide variant not specified [RCV004189523] Chr17:4539513 [GRCh38]
Chr17:4442808 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2144G>A (p.Arg715Gln) single nucleotide variant not specified [RCV004130109] Chr17:4545275 [GRCh38]
Chr17:4448570 [GRCh37]
Chr17:17p13.2		 likely benign
NM_014520.4(MYBBP1A):c.2040C>A (p.His680Gln) single nucleotide variant not specified [RCV004192350] Chr17:4545643 [GRCh38]
Chr17:4448938 [GRCh37]
Chr17:17p13.2		 likely benign
NM_014520.4(MYBBP1A):c.2654G>A (p.Arg885His) single nucleotide variant not specified [RCV004082374] Chr17:4543151 [GRCh38]
Chr17:4446446 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2434A>G (p.Asn812Asp) single nucleotide variant not specified [RCV004090089] Chr17:4544798 [GRCh38]
Chr17:4448093 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.964C>T (p.His322Tyr) single nucleotide variant not specified [RCV004177109] Chr17:4551939 [GRCh38]
Chr17:4455234 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3314T>C (p.Leu1105Pro) single nucleotide variant not specified [RCV004179739] Chr17:4540468 [GRCh38]
Chr17:4443763 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2572C>T (p.Arg858Cys) single nucleotide variant not specified [RCV004238731] Chr17:4544556 [GRCh38]
Chr17:4447851 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2756C>T (p.Thr919Ile) single nucleotide variant not specified [RCV004239180] Chr17:4543049 [GRCh38]
Chr17:4446344 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.404C>G (p.Ala135Gly) single nucleotide variant not specified [RCV004210283] Chr17:4554068 [GRCh38]
Chr17:4457363 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1898G>A (p.Arg633His) single nucleotide variant not specified [RCV004242137] Chr17:4545869 [GRCh38]
Chr17:4449164 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3151G>A (p.Glu1051Lys) single nucleotide variant not specified [RCV004237968] Chr17:4541828 [GRCh38]
Chr17:4445123 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3719G>C (p.Arg1240Pro) single nucleotide variant not specified [RCV004203056] Chr17:4539683 [GRCh38]
Chr17:4442978 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1994T>G (p.Leu665Arg) single nucleotide variant not specified [RCV004163853] Chr17:4545689 [GRCh38]
Chr17:4448984 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1154T>C (p.Leu385Pro) single nucleotide variant not specified [RCV004226083] Chr17:4550223 [GRCh38]
Chr17:4453518 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1906C>T (p.Arg636Cys) single nucleotide variant not specified [RCV004087146] Chr17:4545861 [GRCh38]
Chr17:4449156 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.992G>C (p.Arg331Pro) single nucleotide variant not specified [RCV004208845] Chr17:4551911 [GRCh38]
Chr17:4455206 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.581A>G (p.Gln194Arg) single nucleotide variant not specified [RCV004227988] Chr17:4552607 [GRCh38]
Chr17:4455902 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3710C>T (p.Ala1237Val) single nucleotide variant not specified [RCV004226271] Chr17:4539692 [GRCh38]
Chr17:4442987 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.43G>C (p.Ala15Pro) single nucleotide variant not specified [RCV004115791] Chr17:4555282 [GRCh38]
Chr17:4458577 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3379G>A (p.Gly1127Ser) single nucleotide variant not specified [RCV004189331] Chr17:4540403 [GRCh38]
Chr17:4443698 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3806C>T (p.Thr1269Met) single nucleotide variant not specified [RCV004202523] Chr17:4539596 [GRCh38]
Chr17:4442891 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2017G>A (p.Val673Met) single nucleotide variant not specified [RCV004182858] Chr17:4545666 [GRCh38]
Chr17:4448961 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1077C>A (p.Phe359Leu) single nucleotide variant not specified [RCV004165233] Chr17:4550300 [GRCh38]
Chr17:4453595 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2305G>T (p.Ala769Ser) single nucleotide variant not specified [RCV004232038] Chr17:4545031 [GRCh38]
Chr17:4448326 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2582G>A (p.Arg861His) single nucleotide variant not specified [RCV004232047] Chr17:4544546 [GRCh38]
Chr17:4447841 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1789C>T (p.His597Tyr) single nucleotide variant not specified [RCV004129284] Chr17:4547993 [GRCh38]
Chr17:4451288 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2408G>A (p.Arg803His) single nucleotide variant not specified [RCV004108735] Chr17:4544824 [GRCh38]
Chr17:4448119 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3226A>G (p.Lys1076Glu) single nucleotide variant not specified [RCV004209087] Chr17:4541534 [GRCh38]
Chr17:4444829 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3644G>A (p.Arg1215Lys) single nucleotide variant not specified [RCV004230279] Chr17:4539758 [GRCh38]
Chr17:4443053 [GRCh37]
Chr17:17p13.2		 likely benign
NM_014520.4(MYBBP1A):c.2116G>C (p.Val706Leu) single nucleotide variant not specified [RCV004119920] Chr17:4545303 [GRCh38]
Chr17:4448598 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3633G>C (p.Lys1211Asn) single nucleotide variant not specified [RCV004085807] Chr17:4539769 [GRCh38]
Chr17:4443064 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1408G>C (p.Ala470Pro) single nucleotide variant not specified [RCV004223880] Chr17:4549354 [GRCh38]
Chr17:4452649 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1712A>G (p.Gln571Arg) single nucleotide variant not specified [RCV004081599] Chr17:4548155 [GRCh38]
Chr17:4451450 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2270G>A (p.Arg757Gln) single nucleotide variant not specified [RCV004159571] Chr17:4545066 [GRCh38]
Chr17:4448361 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1525G>A (p.Ala509Thr) single nucleotide variant not specified [RCV004229732] Chr17:4548555 [GRCh38]
Chr17:4451850 [GRCh37]
Chr17:17p13.2		 likely benign
NM_014520.4(MYBBP1A):c.625C>T (p.Leu209Phe) single nucleotide variant not specified [RCV004237173] Chr17:4552563 [GRCh38]
Chr17:4455858 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1237A>G (p.Met413Val) single nucleotide variant not specified [RCV004186331] Chr17:4550140 [GRCh38]
Chr17:4453435 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2407C>T (p.Arg803Cys) single nucleotide variant Meniere disease [RCV004572828]|not specified [RCV004194562] Chr17:4544825 [GRCh38]
Chr17:4448120 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3461C>G (p.Ala1154Gly) single nucleotide variant not specified [RCV004189052] Chr17:4539941 [GRCh38]
Chr17:4443236 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2360T>C (p.Met787Thr) single nucleotide variant not specified [RCV004192659] Chr17:4544872 [GRCh38]
Chr17:4448167 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1231C>T (p.Arg411Trp) single nucleotide variant not specified [RCV004225765] Chr17:4550146 [GRCh38]
Chr17:4453441 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.347A>G (p.Gln116Arg) single nucleotide variant not specified [RCV004159540] Chr17:4554226 [GRCh38]
Chr17:4457521 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2273A>G (p.Glu758Gly) single nucleotide variant not specified [RCV004203457] Chr17:4545063 [GRCh38]
Chr17:4448358 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.847C>T (p.Arg283Trp) single nucleotide variant not specified [RCV004194799] Chr17:4552183 [GRCh38]
Chr17:4455478 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3074G>A (p.Arg1025Gln) single nucleotide variant not specified [RCV004080591] Chr17:4542477 [GRCh38]
Chr17:4445772 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2776G>A (p.Ala926Thr) single nucleotide variant not specified [RCV004086686] Chr17:4543029 [GRCh38]
Chr17:4446324 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2332G>A (p.Glu778Lys) single nucleotide variant not specified [RCV004275762] Chr17:4544900 [GRCh38]
Chr17:4448195 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.566C>T (p.Ser189Leu) single nucleotide variant not specified [RCV004253521] Chr17:4552622 [GRCh38]
Chr17:4455917 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3713C>T (p.Pro1238Leu) single nucleotide variant not specified [RCV004275680] Chr17:4539689 [GRCh38]
Chr17:4442984 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1117G>A (p.Val373Met) single nucleotide variant not specified [RCV004257959] Chr17:4550260 [GRCh38]
Chr17:4453555 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2774A>G (p.Asn925Ser) single nucleotide variant not specified [RCV004278901] Chr17:4543031 [GRCh38]
Chr17:4446326 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2140C>T (p.Arg714Trp) single nucleotide variant not specified [RCV004262755] Chr17:4545279 [GRCh38]
Chr17:4448574 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.821T>C (p.Leu274Pro) single nucleotide variant not specified [RCV004268709] Chr17:4552209 [GRCh38]
Chr17:4455504 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3454A>G (p.Lys1152Glu) single nucleotide variant not specified [RCV004322114] Chr17:4539948 [GRCh38]
Chr17:4443243 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3230C>T (p.Ala1077Val) single nucleotide variant not specified [RCV004296718] Chr17:4541530 [GRCh38]
Chr17:4444825 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1124T>C (p.Val375Ala) single nucleotide variant not specified [RCV004317506] Chr17:4550253 [GRCh38]
Chr17:4453548 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2491C>A (p.Leu831Met) single nucleotide variant not specified [RCV004275763] Chr17:4544637 [GRCh38]
Chr17:4447932 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.632C>T (p.Ser211Phe) single nucleotide variant not specified [RCV004255805] Chr17:4552556 [GRCh38]
Chr17:4455851 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3193G>A (p.Glu1065Lys) single nucleotide variant not specified [RCV004275679] Chr17:4541786 [GRCh38]
Chr17:4445081 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.706G>A (p.Val236Met) single nucleotide variant not specified [RCV004267572] Chr17:4552482 [GRCh38]
Chr17:4455777 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2479C>T (p.Arg827Trp) single nucleotide variant not specified [RCV004255564] Chr17:4544753 [GRCh38]
Chr17:4448048 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1900C>T (p.Arg634Trp) single nucleotide variant not specified [RCV004257076] Chr17:4545867 [GRCh38]
Chr17:4449162 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.761C>T (p.Ala254Val) single nucleotide variant not specified [RCV004329818] Chr17:4552269 [GRCh38]
Chr17:4455564 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2855C>G (p.Ala952Gly) single nucleotide variant not specified [RCV004330151] Chr17:4542950 [GRCh38]
Chr17:4446245 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2353G>T (p.Ala785Ser) single nucleotide variant not specified [RCV004302070] Chr17:4544879 [GRCh38]
Chr17:4448174 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2674G>A (p.Asp892Asn) single nucleotide variant not specified [RCV004347248] Chr17:4543131 [GRCh38]
Chr17:4446426 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12		 pathogenic
NM_014520.4(MYBBP1A):c.2381C>T (p.Ala794Val) single nucleotide variant not specified [RCV004356930] Chr17:4544851 [GRCh38]
Chr17:4448146 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.553C>G (p.Leu185Val) single nucleotide variant not specified [RCV004340229] Chr17:4553818 [GRCh38]
Chr17:4457113 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1000G>A (p.Gly334Arg) single nucleotide variant not provided [RCV003419581] Chr17:4551903 [GRCh38]
Chr17:4455198 [GRCh37]
Chr17:17p13.2		 likely benign
NM_014520.4(MYBBP1A):c.720A>G (p.Ser240=) single nucleotide variant not provided [RCV003419582] Chr17:4552468 [GRCh38]
Chr17:4455763 [GRCh37]
Chr17:17p13.2		 likely benign
NM_014520.4(MYBBP1A):c.1972C>G (p.Leu658Val) single nucleotide variant not specified [RCV004352448] Chr17:4545711 [GRCh38]
Chr17:4449006 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1328G>A (p.Arg443Gln) single nucleotide variant not specified [RCV004339901] Chr17:4549434 [GRCh38]
Chr17:4452729 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2660G>A (p.Arg887Gln) single nucleotide variant not specified [RCV004348307] Chr17:4543145 [GRCh38]
Chr17:4446440 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2464C>T (p.Arg822Cys) single nucleotide variant not specified [RCV004334782] Chr17:4544768 [GRCh38]
Chr17:4448063 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3018G>A (p.Pro1006=) single nucleotide variant not provided [RCV003419579] Chr17:4542616 [GRCh38]
Chr17:4445911 [GRCh37]
Chr17:17p13.2		 likely benign
NM_014520.4(MYBBP1A):c.1532A>G (p.Glu511Gly) single nucleotide variant not provided [RCV003419580] Chr17:4548548 [GRCh38]
Chr17:4451843 [GRCh37]
Chr17:17p13.2		 likely benign
Single allele deletion not provided [RCV003448682] Chr17:2..4611147 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_014520.4(MYBBP1A):c.3789A>T (p.Gly1263=) single nucleotide variant not provided [RCV003419578] Chr17:4539613 [GRCh38]
Chr17:4442908 [GRCh37]
Chr17:17p13.2		 likely benign
NM_014520.4(MYBBP1A):c.358G>C (p.Asp120His) single nucleotide variant not provided [RCV003413090] Chr17:4554215 [GRCh38]
Chr17:4457510 [GRCh37]
Chr17:17p13.2		 likely benign
GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1 copy number loss not specified [RCV003987214] Chr17:9474..6017500 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2		 pathogenic
NM_014520.4(MYBBP1A):c.2717G>A (p.Arg906Gln) single nucleotide variant not specified [RCV004446189] Chr17:4543088 [GRCh38]
Chr17:4446383 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2704G>A (p.Ala902Thr) single nucleotide variant not specified [RCV004446183] Chr17:4543101 [GRCh38]
Chr17:4446396 [GRCh37]
Chr17:17p13.2		 likely benign
NM_014520.4(MYBBP1A):c.3269A>G (p.Asn1090Ser) single nucleotide variant not specified [RCV004446262] Chr17:4541491 [GRCh38]
Chr17:4444786 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3427G>A (p.Gly1143Arg) single nucleotide variant not specified [RCV004446281] Chr17:4540355 [GRCh38]
Chr17:4443650 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3437G>A (p.Arg1146His) single nucleotide variant not specified [RCV004446289] Chr17:4539965 [GRCh38]
Chr17:4443260 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3533C>T (p.Thr1178Met) single nucleotide variant not specified [RCV004446309] Chr17:4539869 [GRCh38]
Chr17:4443164 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3626G>A (p.Gly1209Asp) single nucleotide variant not specified [RCV004446317] Chr17:4539776 [GRCh38]
Chr17:4443071 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3641A>G (p.Asn1214Ser) single nucleotide variant not specified [RCV004446322] Chr17:4539761 [GRCh38]
Chr17:4443056 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3718C>T (p.Arg1240Trp) single nucleotide variant not specified [RCV004446326] Chr17:4539684 [GRCh38]
Chr17:4442979 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3899C>T (p.Ala1300Val) single nucleotide variant not specified [RCV004446336] Chr17:4539503 [GRCh38]
Chr17:4442798 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.455A>C (p.Asp152Ala) single nucleotide variant not specified [RCV004446349] Chr17:4553916 [GRCh38]
Chr17:4457211 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.632C>G (p.Ser211Cys) single nucleotide variant not specified [RCV004446364] Chr17:4552556 [GRCh38]
Chr17:4455851 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1109A>C (p.Gln370Pro) single nucleotide variant not specified [RCV004445910] Chr17:4550268 [GRCh38]
Chr17:4453563 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1694T>G (p.Phe565Cys) single nucleotide variant not specified [RCV004445974] Chr17:4548173 [GRCh38]
Chr17:4451468 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1723C>T (p.Arg575Trp) single nucleotide variant not specified [RCV004445986] Chr17:4548144 [GRCh38]
Chr17:4451439 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2039A>T (p.His680Leu) single nucleotide variant not specified [RCV004446027] Chr17:4545644 [GRCh38]
Chr17:4448939 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1187G>A (p.Arg396Gln) single nucleotide variant not specified [RCV004445918] Chr17:4550190 [GRCh38]
Chr17:4453485 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2166G>C (p.Lys722Asn) single nucleotide variant not specified [RCV004446062] Chr17:4545170 [GRCh38]
Chr17:4448465 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2248G>A (p.Gly750Arg) single nucleotide variant not specified [RCV004446078] Chr17:4545088 [GRCh38]
Chr17:4448383 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2480G>A (p.Arg827Gln) single nucleotide variant not specified [RCV004446137] Chr17:4544752 [GRCh38]
Chr17:4448047 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2569C>T (p.Arg857Trp) single nucleotide variant not specified [RCV004446147] Chr17:4544559 [GRCh38]
Chr17:4447854 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2792T>C (p.Leu931Pro) single nucleotide variant not specified [RCV004446203] Chr17:4543013 [GRCh38]
Chr17:4446308 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3001C>T (p.Leu1001Phe) single nucleotide variant not specified [RCV004446208] Chr17:4542633 [GRCh38]
Chr17:4445928 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3055C>T (p.His1019Tyr) single nucleotide variant not specified [RCV004446222] Chr17:4542496 [GRCh38]
Chr17:4445791 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1747C>G (p.Leu583Val) single nucleotide variant not specified [RCV004445994] Chr17:4548035 [GRCh38]
Chr17:4451330 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1865C>T (p.Thr622Ile) single nucleotide variant not specified [RCV004446011] Chr17:4545902 [GRCh38]
Chr17:4449197 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2098G>A (p.Asp700Asn) single nucleotide variant not specified [RCV004446035] Chr17:4545321 [GRCh38]
Chr17:4448616 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1307C>T (p.Ser436Leu) single nucleotide variant not specified [RCV004445924] Chr17:4550070 [GRCh38]
Chr17:4453365 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2656G>C (p.Ala886Pro) single nucleotide variant not specified [RCV004446164] Chr17:4543149 [GRCh38]
Chr17:4446444 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3068C>T (p.Pro1023Leu) single nucleotide variant not specified [RCV004446231] Chr17:4542483 [GRCh38]
Chr17:4445778 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3202C>G (p.Arg1068Gly) single nucleotide variant not specified [RCV004446248] Chr17:4541558 [GRCh38]
Chr17:4444853 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2269C>T (p.Arg757Trp) single nucleotide variant not specified [RCV004446087] Chr17:4545067 [GRCh38]
Chr17:4448362 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2278C>A (p.Leu760Met) single nucleotide variant not specified [RCV004446097] Chr17:4545058 [GRCh38]
Chr17:4448353 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2552C>G (p.Pro851Arg) single nucleotide variant not specified [RCV004446143] Chr17:4544576 [GRCh38]
Chr17:4447871 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3121C>T (p.Arg1041Trp) single nucleotide variant not specified [RCV004446238] Chr17:4541858 [GRCh38]
Chr17:4445153 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3134C>T (p.Ser1045Leu) single nucleotide variant not specified [RCV004446243] Chr17:4541845 [GRCh38]
Chr17:4445140 [GRCh37]
Chr17:17p13.2		 likely benign
NM_014520.4(MYBBP1A):c.3541C>T (p.Arg1181Cys) single nucleotide variant not specified [RCV004446312] Chr17:4539861 [GRCh38]
Chr17:4443156 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3211G>A (p.Gly1071Arg) single nucleotide variant not specified [RCV004446251] Chr17:4541549 [GRCh38]
Chr17:4444844 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1623G>T (p.Trp541Cys) single nucleotide variant not specified [RCV004445964] Chr17:4548244 [GRCh38]
Chr17:4451539 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2462G>A (p.Arg821Gln) single nucleotide variant not specified [RCV004446126] Chr17:4544770 [GRCh38]
Chr17:4448065 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3054G>T (p.Gln1018His) single nucleotide variant not specified [RCV004446216] Chr17:4542497 [GRCh38]
Chr17:4445792 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2686C>T (p.Arg896Cys) single nucleotide variant not specified [RCV004446177] Chr17:4543119 [GRCh38]
Chr17:4446414 [GRCh37]
Chr17:17p13.2		 likely benign
NM_014520.4(MYBBP1A):c.3388C>T (p.Arg1130Cys) single nucleotide variant not specified [RCV004446272] Chr17:4540394 [GRCh38]
Chr17:4443689 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1930G>A (p.Glu644Lys) single nucleotide variant not specified [RCV004446022] Chr17:4545753 [GRCh38]
Chr17:4449048 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.19G>A (p.Ala7Thr) single nucleotide variant not specified [RCV004446025] Chr17:4555306 [GRCh38]
Chr17:4458601 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3877T>C (p.Ser1293Pro) single nucleotide variant not specified [RCV004647073] Chr17:4539525 [GRCh38]
Chr17:4442820 [GRCh37]
Chr17:17p13.2		 uncertain significance
NC_000017.10:g.(?_422368)_(8285628_?)dup duplication not provided [RCV004581443] Chr17:422368..8285628 [GRCh37]
Chr17:17p13.3-13.1		 uncertain significance
NM_014520.4(MYBBP1A):c.2419C>T (p.Arg807Trp) single nucleotide variant Meniere disease [RCV004574920] Chr17:4544813 [GRCh38]
Chr17:4448108 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1073C>A (p.Thr358Asn) single nucleotide variant not specified [RCV004645657] Chr17:4550304 [GRCh38]
Chr17:4453599 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3796G>A (p.Gly1266Arg) single nucleotide variant not specified [RCV004645658] Chr17:4539606 [GRCh38]
Chr17:4442901 [GRCh37]
Chr17:17p13.2		 likely benign
NM_014520.4(MYBBP1A):c.3182C>T (p.Ala1061Val) single nucleotide variant not specified [RCV004645660] Chr17:4541797 [GRCh38]
Chr17:4445092 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.439G>T (p.Gly147Cys) single nucleotide variant not specified [RCV004645661] Chr17:4554033 [GRCh38]
Chr17:4457328 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2551C>T (p.Pro851Ser) single nucleotide variant Meniere disease [RCV004574919] Chr17:4544577 [GRCh38]
Chr17:4447872 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3349C>T (p.Gln1117Ter) single nucleotide variant Meniere disease [RCV004574916] Chr17:4540433 [GRCh38]
Chr17:4443728 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2906T>A (p.Leu969Ter) single nucleotide variant Meniere disease [RCV004574918] Chr17:4542728 [GRCh38]
Chr17:4446023 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1595C>T (p.Pro532Leu) single nucleotide variant not specified [RCV004647069] Chr17:4548272 [GRCh38]
Chr17:4451567 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.950C>G (p.Thr317Ser) single nucleotide variant not specified [RCV004647070] Chr17:4551953 [GRCh38]
Chr17:4455248 [GRCh37]
Chr17:17p13.2		 likely benign
NM_014520.4(MYBBP1A):c.347A>C (p.Gln116Pro) single nucleotide variant not specified [RCV004647071] Chr17:4554226 [GRCh38]
Chr17:4457521 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1901G>C (p.Arg634Pro) single nucleotide variant not specified [RCV004647075] Chr17:4545866 [GRCh38]
Chr17:4449161 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2905T>G (p.Leu969Val) single nucleotide variant not specified [RCV004647076] Chr17:4542729 [GRCh38]
Chr17:4446024 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2659C>T (p.Arg887Trp) single nucleotide variant not specified [RCV004647077] Chr17:4543146 [GRCh38]
Chr17:4446441 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3698C>T (p.Pro1233Leu) single nucleotide variant not specified [RCV004649558] Chr17:4539704 [GRCh38]
Chr17:4442999 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2351A>C (p.Glu784Ala) single nucleotide variant not specified [RCV004649559] Chr17:4544881 [GRCh38]
Chr17:4448176 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2830C>T (p.His944Tyr) single nucleotide variant not specified [RCV004649560] Chr17:4542975 [GRCh38]
Chr17:4446270 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2074G>A (p.Val692Met) single nucleotide variant not specified [RCV004649561] Chr17:4545345 [GRCh38]
Chr17:4448640 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3665C>T (p.Ala1222Val) single nucleotide variant not specified [RCV004649562] Chr17:4539737 [GRCh38]
Chr17:4443032 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2882C>T (p.Thr961Met) single nucleotide variant not specified [RCV004647072] Chr17:4542923 [GRCh38]
Chr17:4446218 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3551G>A (p.Arg1184His) single nucleotide variant not specified [RCV004647078] Chr17:4539851 [GRCh38]
Chr17:4443146 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.3676G>A (p.Gly1226Arg) single nucleotide variant not specified [RCV004645653] Chr17:4539726 [GRCh38]
Chr17:4443021 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.2111G>A (p.Arg704His) single nucleotide variant not specified [RCV004645654] Chr17:4545308 [GRCh38]
Chr17:4448603 [GRCh37]
Chr17:17p13.2		 likely benign
NM_014520.4(MYBBP1A):c.610G>A (p.Asp204Asn) single nucleotide variant not specified [RCV004645655] Chr17:4552578 [GRCh38]
Chr17:4455873 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_014520.4(MYBBP1A):c.1186C>T (p.Arg396Trp) single nucleotide variant not specified [RCV004645656] Chr17:4550191 [GRCh38]
Chr17:4453486 [GRCh37]
Chr17:17p13.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3991
Count of miRNA genes:955
Interacting mature miRNAs:1180
Transcripts:ENST00000254718, ENST00000381556, ENST00000570986, ENST00000571354, ENST00000571368, ENST00000572759, ENST00000573116, ENST00000573175, ENST00000573723, ENST00000574167, ENST00000574547, ENST00000574934, ENST00000575662
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
STS-AA009738  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,442,413 - 4,442,639UniSTSGRCh37
Build 36174,389,162 - 4,389,388RGDNCBI36
Celera174,454,609 - 4,454,835RGD
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map17p13.2UniSTS
HuRef174,331,807 - 4,332,033UniSTS
GeneMap99-GB4 RH Map1741.51UniSTS
NCBI RH Map1774.5UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001105538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC118754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF147709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY093673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF111023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB243989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC346952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000254718   ⟹   ENSP00000254718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,538,904 - 4,555,384 (-)Ensembl
Ensembl Acc Id: ENST00000381556   ⟹   ENSP00000370968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,538,897 - 4,555,386 (-)Ensembl
Ensembl Acc Id: ENST00000570986
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,552,183 - 4,555,358 (-)Ensembl
Ensembl Acc Id: ENST00000571354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,544,902 - 4,545,932 (-)Ensembl
Ensembl Acc Id: ENST00000571368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,538,902 - 4,543,299 (-)Ensembl
Ensembl Acc Id: ENST00000572759   ⟹   ENSP00000460087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,539,523 - 4,545,126 (-)Ensembl
Ensembl Acc Id: ENST00000573116   ⟹   ENSP00000458919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,538,902 - 4,554,912 (-)Ensembl
Ensembl Acc Id: ENST00000573175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,547,685 - 4,550,177 (-)Ensembl
Ensembl Acc Id: ENST00000573723   ⟹   ENSP00000459692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,538,944 - 4,550,061 (-)Ensembl
Ensembl Acc Id: ENST00000574167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,539,439 - 4,541,898 (-)Ensembl
Ensembl Acc Id: ENST00000574547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,539,363 - 4,544,695 (-)Ensembl
Ensembl Acc Id: ENST00000574934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,538,906 - 4,542,423 (-)Ensembl
Ensembl Acc Id: ENST00000575662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,540,436 - 4,542,100 (-)Ensembl
RefSeq Acc Id: NM_001105538   ⟹   NP_001099008
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,538,904 - 4,555,384 (-)NCBI
GRCh37174,442,191 - 4,458,921 (-)NCBI
Build 36174,388,940 - 4,405,430 (-)NCBI Archive
HuRef174,331,585 - 4,348,073 (-)ENTREZGENE
CHM1_1174,451,000 - 4,467,488 (-)NCBI
T2T-CHM13v2.0174,428,802 - 4,445,280 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014520   ⟹   NP_055335
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,538,904 - 4,555,384 (-)NCBI
GRCh37174,442,191 - 4,458,921 (-)NCBI
Build 36174,388,940 - 4,405,430 (-)NCBI Archive
HuRef174,331,585 - 4,348,073 (-)ENTREZGENE
CHM1_1174,451,000 - 4,467,488 (-)NCBI
T2T-CHM13v2.0174,428,802 - 4,445,280 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523616   ⟹   XP_011521918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,538,904 - 4,552,528 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450536   ⟹   XP_024306304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,538,904 - 4,555,384 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047435119   ⟹   XP_047291075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,545,057 - 4,555,384 (-)NCBI
RefSeq Acc Id: XM_054314704   ⟹   XP_054170679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0174,428,802 - 4,445,280 (-)NCBI
RefSeq Acc Id: XM_054314705   ⟹   XP_054170680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0174,428,802 - 4,442,425 (-)NCBI
RefSeq Acc Id: XM_054314706   ⟹   XP_054170681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0174,434,955 - 4,445,280 (-)NCBI
RefSeq Acc Id: NP_001099008   ⟸   NM_001105538
- Peptide Label: isoform 1
- UniProtKB: I3L1L3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_055335   ⟸   NM_014520
- Peptide Label: isoform 2
- UniProtKB: Q9P0V5 (UniProtKB/Swiss-Prot),   Q9BW49 (UniProtKB/Swiss-Prot),   Q86VM3 (UniProtKB/Swiss-Prot),   Q9UF99 (UniProtKB/Swiss-Prot),   Q9BQG0 (UniProtKB/Swiss-Prot),   I3L1L3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011521918   ⟸   XM_011523616
- Peptide Label: isoform X2
- UniProtKB: I3L1L3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024306304   ⟸   XM_024450536
- Peptide Label: isoform X1
- UniProtKB: I3L1L3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000254718   ⟸   ENST00000254718
Ensembl Acc Id: ENSP00000460087   ⟸   ENST00000572759
Ensembl Acc Id: ENSP00000459692   ⟸   ENST00000573723
Ensembl Acc Id: ENSP00000458919   ⟸   ENST00000573116
Ensembl Acc Id: ENSP00000370968   ⟸   ENST00000381556
RefSeq Acc Id: XP_047291075   ⟸   XM_047435119
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054170679   ⟸   XM_054314704
- Peptide Label: isoform X1
- UniProtKB: I3L1L3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054170680   ⟸   XM_054314705
- Peptide Label: isoform X2
- UniProtKB: I3L1L3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054170681   ⟸   XM_054314706
- Peptide Label: isoform X3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BQG0-F1-model_v2 AlphaFold Q9BQG0 1-1328 view protein structure

Promoters
RGD ID:6794351
Promoter ID:HG_KWN:24732
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   NB4
Transcripts:UC002FYA.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36174,391,894 - 4,392,394 (-)MPROMDB
RGD ID:6794353
Promoter ID:HG_KWN:24733
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001105538,   NM_014520
Position:
Human AssemblyChrPosition (strand)Source
Build 36174,405,289 - 4,405,789 (-)MPROMDB
RGD ID:7233415
Promoter ID:EPDNEW_H22453
Type:initiation region
Name:MYBBP1A_1
Description:MYB binding protein 1a
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
GRCh38174,555,384 - 4,555,444EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7546 AgrOrtholog
COSMIC MYBBP1A COSMIC
Ensembl Genes ENSG00000132382 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000254718 ENTREZGENE
  ENST00000254718.9 UniProtKB/Swiss-Prot
  ENST00000381556 ENTREZGENE
  ENST00000381556.6 UniProtKB/Swiss-Prot
  ENST00000572759.1 UniProtKB/TrEMBL
  ENST00000573116.5 UniProtKB/TrEMBL
  ENST00000573723.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000132382 GTEx
HGNC ID HGNC:7546 ENTREZGENE
Human Proteome Map MYBBP1A Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_pol_V/MYBBP1A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10514 UniProtKB/Swiss-Prot
NCBI Gene 10514 ENTREZGENE
OMIM 604885 OMIM
PANTHER MYB-BINDING PROTEIN 1A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13213 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DNA_pol_phi UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31346 PharmGKB
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt I3L1L3 ENTREZGENE, UniProtKB/TrEMBL
  I3L2H8_HUMAN UniProtKB/TrEMBL
  I3L311_HUMAN UniProtKB/TrEMBL
  MBB1A_HUMAN UniProtKB/Swiss-Prot
  Q86VM3 ENTREZGENE
  Q9BQG0 ENTREZGENE
  Q9BW49 ENTREZGENE
  Q9P0V5 ENTREZGENE
  Q9UF99 ENTREZGENE
UniProt Secondary Q86VM3 UniProtKB/Swiss-Prot
  Q9BW49 UniProtKB/Swiss-Prot
  Q9P0V5 UniProtKB/Swiss-Prot
  Q9UF99 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 MYBBP1A  MYB binding protein 1a    MYB binding protein (P160) 1a  Symbol and/or name change 5135510 APPROVED