MBD4 (methyl-CpG binding domain 4, DNA glycosylase) - Rat Genome Database

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Gene: MBD4 (methyl-CpG binding domain 4, DNA glycosylase) Homo sapiens
Analyze
Symbol: MBD4
Name: methyl-CpG binding domain 4, DNA glycosylase
RGD ID: 1313885
HGNC Page HGNC:6919
Description: Enables pyrimidine-specific mismatch base pair DNA N-glycosylase activity. Predicted to be involved in depyrimidination. Predicted to act upstream of or within intrinsic apoptotic signaling pathway in response to DNA damage; mitotic G2 DNA damage checkpoint signaling; and response to radiation. Located in nuclear speck. Implicated in colorectal carcinoma; esophagus squamous cell carcinoma; lung cancer; rheumatoid arthritis; and uveal melanoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 3,N(4)-ethenocytosine glycosylase; G/5-fluorouracil mismatch glycosylase with biphasic kinetics; G/T mismatch glycosylase; G/U mismatch glycosylase; MED1; methyl-CpG binding domain 4 DNA glycosylase; methyl-CpG binding domain protein 4; methyl-CpG-binding domain protein 4; methyl-CpG-binding endonuclease 1; methyl-CpG-binding protein MBD4; mismatch-specific DNA N-glycosylase; putative methyl-CpG binding protein; TPDS2; UVM1
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
GRCh383129,430,947 - 129,439,948 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3129,430,947 - 129,440,179 (-)EnsemblGRCh38hg38GRCh38
GRCh373129,149,790 - 129,158,791 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363130,632,483 - 130,641,542 (-)NCBINCBI36Build 36hg18NCBI36
Build 343130,632,490 - 130,641,550NCBI
Celera3127,576,629 - 127,585,688 (-)NCBICelera
Cytogenetic Map3q21.3NCBI
HuRef3126,533,265 - 126,542,500 (-)NCBIHuRef
CHM1_13129,112,922 - 129,122,157 (-)NCBICHM1_1
T2T-CHM13v2.03132,175,773 - 132,184,774 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-hydroxypropanoic acid  (EXP)
3,N(4)-ethenocytosine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (ISO)
5-iodo-2'-deoxyuridine  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
beta-lapachone  (EXP)
bisphenol A  (ISO)
bortezomib  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
carbon nanotube  (ISO)
cisplatin  (EXP)
copper(II) sulfate  (EXP)
coumarin  (EXP)
crocidolite asbestos  (EXP)
cypermethrin  (ISO)
decabromodiphenyl ether  (ISO)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
disodium selenite  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
folic acid  (ISO)
FR900359  (EXP)
gentamycin  (ISO)
glyphosate  (EXP)
hydrogen peroxide  (EXP)
lead diacetate  (EXP)
leflunomide  (EXP)
mercury dichloride  (EXP)
methimazole  (ISO)
methylmercury chloride  (EXP)
monosodium L-glutamate  (ISO)
morphine  (ISO)
paracetamol  (EXP)
pirinixic acid  (EXP)
quercetin  (EXP,ISO)
rac-lactic acid  (EXP)
resveratrol  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
sodium arsenite  (EXP)
sulfadimethoxine  (ISO)
temozolomide  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
topotecan  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
valproic acid  (EXP)
vincristine  (EXP)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (ISO)
cytoplasm  (ISO)
nuclear speck  (IDA)
nucleoplasm  (TAS)
nucleus  (IBA,IEA,TAS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Inter-individual variation in nucleotide excision repair pathway is modulated by non-synonymous polymorphisms in ERCC4 and MBD4 genes. Allione A, etal., Mutat Res. 2013 Nov-Dec;751-752:49-54. doi: 10.1016/j.mrfmmm.2013.08.005. Epub 2013 Sep 1.
2. Somatic frameshift mutations in the MBD4 gene of sporadic colon cancers with mismatch repair deficiency. Bader S, etal., Oncogene. 1999 Dec 23;18(56):8044-7.
3. On how mammalian transcription factors recognize methylated DNA. Buck-Koehntop BA and Defossez PA, Epigenetics. 2013 Feb;8(2):131-7. doi: 10.4161/epi.23632. Epub 2013 Jan 16.
4. Peptidylarginine deiminase type 4 and methyl-CpG binding domain 4 polymorphisms in Chinese patients with rheumatoid arthritis. Cheng J, etal., J Rheumatol. 2012 Jun;39(6):1159-65. doi: 10.3899/jrheum.120007. Epub 2012 Apr 15.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. Identification of genetic variants in base excision repair pathway and their associations with risk of esophageal squamous cell carcinoma. Hao B, etal., Cancer Res. 2004 Jun 15;64(12):4378-84.
7. MBD4 gene is associated with rheumatoid arthritis in Chinese patients in Taiwan. Huang CM, etal., Rheumatol Int. 2012 Jan;32(1):117-22. doi: 10.1007/s00296-010-1545-8. Epub 2010 Jul 30.
8. Tagging single nucleotide polymorphisms in MBD4 are associated with risk of lung cancer in a Chinese population. Miao R, etal., Lung Cancer. 2008 Dec;62(3):281-6. doi: 10.1016/j.lungcan.2008.03.027. Epub 2008 May 20.
9. Enhanced CpG mutability and tumorigenesis in MBD4-deficient mice. Millar CB, etal., Science. 2002 Jul 19;297(5580):403-5.
10. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. The Glu346Lys polymorphism and frameshift mutations of the Methyl-CpG Binding Domain 4 gene in gastrointestinal cancer. Song JH, etal., Neoplasma. 2009;56(4):343-7.
13. Validation of biomarkers associated with 5-fluorouracil and thymidylate synthase in colorectal cancer. Xi Y, etal., Oncol Rep. 2008 Jan;19(1):257-62.
14. Methyl-CpG binding domain 4 tagging polymorphisms and esophageal cancer risk in a Chinese population. Yin J, etal., Eur J Cancer Prev. 2014 Aug 26.
Additional References at PubMed
PMID:9774669   PMID:9823339   PMID:10097147   PMID:10441743   PMID:10499592   PMID:10545939   PMID:10583946   PMID:10930409   PMID:11056019   PMID:11309305   PMID:11836615   PMID:11937636  
PMID:12220634   PMID:12430186   PMID:12477932   PMID:12702765   PMID:12766061   PMID:12926109   PMID:14614141   PMID:14667819   PMID:15342556   PMID:15489334   PMID:15899845   PMID:16803845  
PMID:16831587   PMID:17049487   PMID:17143486   PMID:17285135   PMID:17360956   PMID:18029348   PMID:18162445   PMID:18452947   PMID:18519584   PMID:18676680   PMID:19170196   PMID:19395862  
PMID:19403629   PMID:19625176   PMID:19692168   PMID:20100009   PMID:20226869   PMID:20453000   PMID:20522537   PMID:20574454   PMID:20644561   PMID:20731661   PMID:21377502   PMID:21516116  
PMID:21820404   PMID:21873635   PMID:21900206   PMID:21971312   PMID:21988832   PMID:22560993   PMID:22658674   PMID:22848106   PMID:23027038   PMID:23275563   PMID:23316048   PMID:23455924  
PMID:24434851   PMID:24981860   PMID:25358258   PMID:26496610   PMID:26503472   PMID:28542810   PMID:29018507   PMID:29473320   PMID:29509190   PMID:30021884   PMID:30049810   PMID:30415952  
PMID:30804502   PMID:31391242   PMID:31476572   PMID:31527615   PMID:31891275   PMID:32239153   PMID:32296183   PMID:32393512   PMID:32416067   PMID:32421892   PMID:32814053   PMID:33871441  
PMID:33961781   PMID:34079125   PMID:34107280   PMID:34591612   PMID:35863105   PMID:35914814   PMID:35944360   PMID:36089195   PMID:36373674   PMID:36543142   PMID:37957685   PMID:38060262  


Genomics

Comparative Map Data
MBD4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383129,430,947 - 129,439,948 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3129,430,947 - 129,440,179 (-)EnsemblGRCh38hg38GRCh38
GRCh373129,149,790 - 129,158,791 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363130,632,483 - 130,641,542 (-)NCBINCBI36Build 36hg18NCBI36
Build 343130,632,490 - 130,641,550NCBI
Celera3127,576,629 - 127,585,688 (-)NCBICelera
Cytogenetic Map3q21.3NCBI
HuRef3126,533,265 - 126,542,500 (-)NCBIHuRef
CHM1_13129,112,922 - 129,122,157 (-)NCBICHM1_1
T2T-CHM13v2.03132,175,773 - 132,184,774 (-)NCBIT2T-CHM13v2.0
Mbd4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396115,817,658 - 115,830,361 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6115,817,658 - 115,830,332 (-)EnsemblGRCm39 Ensembl
GRCm386115,840,697 - 115,853,400 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6115,840,697 - 115,853,371 (-)EnsemblGRCm38mm10GRCm38
MGSCv376115,790,715 - 115,803,359 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366115,808,047 - 115,819,340 (-)NCBIMGSCv36mm8
Celera6117,677,344 - 117,690,709 (-)NCBICelera
Cytogenetic Map6E3NCBI
cM Map653.72NCBI
Mbd4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84150,565,646 - 150,577,433 (-)NCBIGRCr8
mRatBN7.24148,893,049 - 148,904,833 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4148,894,280 - 148,904,982 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.04147,744,673 - 147,756,462 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4147,746,186 - 147,756,294 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04211,028,384 - 211,040,158 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44151,972,272 - 151,981,633 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera4137,783,059 - 137,794,850 (-)NCBICelera
Cytogenetic Map4q42NCBI
Mbd4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542917,858,937 - 17,869,262 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542917,858,656 - 17,868,111 (+)NCBIChiLan1.0ChiLan1.0
MBD4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22127,363,949 - 127,372,866 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13127,368,337 - 127,377,271 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03126,489,125 - 126,498,034 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13133,842,156 - 133,851,450 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3133,839,643 - 133,851,450 (-)Ensemblpanpan1.1panPan2
MBD4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1205,716,162 - 5,725,068 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl205,716,239 - 5,724,881 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha205,753,617 - 5,762,527 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0205,745,974 - 5,754,885 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl205,745,978 - 5,754,919 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1205,461,788 - 5,470,699 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0205,814,748 - 5,823,669 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0205,790,467 - 5,799,355 (+)NCBIUU_Cfam_GSD_1.0
Mbd4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494217,929,197 - 17,952,854 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936602956,784 - 967,884 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936602968,159 - 980,452 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MBD4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1368,816,679 - 68,828,580 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11368,816,677 - 68,828,559 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
MBD4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12251,616,840 - 51,626,232 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2251,616,803 - 51,626,224 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041114,838,792 - 114,848,231 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mbd4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624872451,118 - 462,509 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624872453,303 - 462,661 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MBD4
343 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
NM_001276270.2(MBD4):c.1684G>C (p.Asp562His) single nucleotide variant not provided [RCV002515499]|not specified [RCV000202869] Chr3:129431542 [GRCh38]
Chr3:129150385 [GRCh37]
Chr3:3q21.3
benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3 copy number gain See cases [RCV000142010] Chr3:126106779..140918089 [GRCh38]
Chr3:125825622..140636931 [GRCh37]
Chr3:127308312..142119621 [NCBI36]
Chr3:3q21.3-23
uncertain significance
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24
pathogenic
GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1 copy number loss See cases [RCV000142787] Chr3:127607945..133566661 [GRCh38]
Chr3:127326788..133285505 [GRCh37]
Chr3:128809478..134768195 [NCBI36]
Chr3:3q21.3-22.1
likely pathogenic
NM_001276270.2(MBD4):c.1271C>G (p.Pro424Arg) single nucleotide variant Inborn genetic diseases [RCV003268405]|not provided [RCV003661032] Chr3:129433972 [GRCh38]
Chr3:129152815 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.839A>T (p.Gln280Leu) single nucleotide variant Inborn genetic diseases [RCV003251958] Chr3:129436805 [GRCh38]
Chr3:129155648 [GRCh37]
Chr3:3q21.3
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q21.3-22.1(chr3:128660985-129811200)x1 copy number loss not provided [RCV000682304] Chr3:128660985..129811200 [GRCh37]
Chr3:3q21.3-22.1
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q21.3-22.1(chr3:129099946-129212271)x1 copy number loss not provided [RCV000742788] Chr3:129099946..129212271 [GRCh37]
Chr3:3q21.3-22.1
benign
NM_001276270.2(MBD4):c.1393+109G>A single nucleotide variant not provided [RCV001689551] Chr3:129433741 [GRCh38]
Chr3:129152584 [GRCh37]
Chr3:3q21.3
benign
NM_001276270.2(MBD4):c.1024T>C (p.Ser342Pro) single nucleotide variant MBD4-related disorder [RCV003968464]|not provided [RCV001679675] Chr3:129436620 [GRCh38]
Chr3:129155463 [GRCh37]
Chr3:3q21.3
benign
NM_001276270.2(MBD4):c.1590G>A (p.Gly530=) single nucleotide variant MBD4-related disorder [RCV003968191]|not provided [RCV000895988] Chr3:129432560 [GRCh38]
Chr3:129151403 [GRCh37]
Chr3:3q21.3
benign
NM_001276270.2(MBD4):c.1272A>G (p.Pro424=) single nucleotide variant not provided [RCV000899304] Chr3:129433971 [GRCh38]
Chr3:129152814 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.336-180A>T single nucleotide variant not provided [RCV001638615] Chr3:129437488 [GRCh38]
Chr3:129156331 [GRCh37]
Chr3:3q21.3
benign
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541925] Chr3:127966423..136853218 [GRCh37]
Chr3:3q21.3-22.3
pathogenic
NM_001276270.2(MBD4):c.1543+14C>T single nucleotide variant not provided [RCV001638351] Chr3:129433084 [GRCh38]
Chr3:129151927 [GRCh37]
Chr3:3q21.3
benign
NC_000003.11:g.(?_126707437)_(130720194_?)dup duplication Deafness-lymphedema-leukemia syndrome [RCV003113323]|not provided [RCV003107782] Chr3:126707437..130720194 [GRCh37]
Chr3:3q21.3-22.1
uncertain significance|no classifications from unflagged records
NC_000003.12:g.(?_129170453)_(129551340_?)dup duplication not provided [RCV001031235] Chr3:128889296..129270183 [GRCh37]
Chr3:3q21.3-22.1
uncertain significance
NM_001276270.2(MBD4):c.335+27T>C single nucleotide variant not provided [RCV001656642] Chr3:129437693 [GRCh38]
Chr3:129156536 [GRCh37]
Chr3:3q21.3
benign
NM_001276270.2(MBD4):c.1394-140G>A single nucleotide variant not provided [RCV001720794] Chr3:129433387 [GRCh38]
Chr3:129152230 [GRCh37]
Chr3:3q21.3
benign
NM_001276270.2(MBD4):c.817G>A (p.Ala273Thr) single nucleotide variant not provided [RCV001639267] Chr3:129436827 [GRCh38]
Chr3:129155670 [GRCh37]
Chr3:3q21.3
benign
NM_001276270.2(MBD4):c.1036G>A (p.Glu346Lys) single nucleotide variant not provided [RCV001670317] Chr3:129436608 [GRCh38]
Chr3:129155451 [GRCh37]
Chr3:3q21.3
benign
NM_001276270.2(MBD4):c.1395C>T (p.Gly465=) single nucleotide variant not provided [RCV001667550] Chr3:129433246 [GRCh38]
Chr3:129152089 [GRCh37]
Chr3:3q21.3
benign
NM_001276270.2(MBD4):c.1394-54A>G single nucleotide variant not provided [RCV001714831] Chr3:129433301 [GRCh38]
Chr3:129152144 [GRCh37]
Chr3:3q21.3
benign
NM_001276270.2(MBD4):c.1544-218T>C single nucleotide variant not provided [RCV001665653] Chr3:129432824 [GRCh38]
Chr3:129151667 [GRCh37]
Chr3:3q21.3
benign
NM_001276270.2(MBD4):c.1555A>C (p.Thr519Pro) single nucleotide variant Inborn genetic diseases [RCV001266865] Chr3:129432595 [GRCh38]
Chr3:129151438 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1387A>G (p.Thr463Ala) single nucleotide variant Inborn genetic diseases [RCV001266531]|not provided [RCV003669222] Chr3:129433856 [GRCh38]
Chr3:129152699 [GRCh37]
Chr3:3q21.3
uncertain significance
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541926] Chr3:123000000..129700000 [GRCh37]
Chr3:3q21.1-22.1
pathogenic
NM_001276270.2(MBD4):c.1184-57C>G single nucleotide variant not provided [RCV001670889] Chr3:129434193 [GRCh38]
Chr3:129153036 [GRCh37]
Chr3:3q21.3
benign
NM_001276270.2(MBD4):c.1648-173T>G single nucleotide variant not provided [RCV001692599] Chr3:129431751 [GRCh38]
Chr3:129150594 [GRCh37]
Chr3:3q21.3
benign
NM_001276270.2(MBD4):c.1073T>C (p.Ile358Thr) single nucleotide variant MBD4-related disorder [RCV003968524]|not provided [RCV001730401]|not specified [RCV001794515] Chr3:129436571 [GRCh38]
Chr3:129155414 [GRCh37]
Chr3:3q21.3
benign|likely benign
NM_001276270.2(MBD4):c.1517G>A (p.Arg506Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002273258]|not provided [RCV003698895] Chr3:129433124 [GRCh38]
Chr3:129151967 [GRCh37]
Chr3:3q21.3
likely pathogenic|uncertain significance
NM_001276270.2(MBD4):c.1382A>G (p.Asn461Ser) single nucleotide variant MBD4-related disorder [RCV003913394]|not provided [RCV002542496]|not specified [RCV001822183] Chr3:129433861 [GRCh38]
Chr3:129152704 [GRCh37]
Chr3:3q21.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001276270.2(MBD4):c.181T>C (p.Cys61Arg) single nucleotide variant MBD4-related disorder [RCV003956389]|not provided [RCV002512159]|not specified [RCV001822184] Chr3:129437874 [GRCh38]
Chr3:129156717 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1366G>A (p.Ala456Thr) single nucleotide variant not provided [RCV003708617]|not specified [RCV001822495] Chr3:129433877 [GRCh38]
Chr3:129152720 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.-5G>C single nucleotide variant not specified [RCV001822561] Chr3:129439838 [GRCh38]
Chr3:129158681 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.368C>T (p.Ser123Leu) single nucleotide variant not provided [RCV002542686]|not specified [RCV001822758] Chr3:129437276 [GRCh38]
Chr3:129156119 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.939dup (p.Glu314fs) duplication Tumor predisposition syndrome 2 [RCV002274219]|not provided [RCV002545186]|not specified [RCV001818015] Chr3:129436704..129436705 [GRCh38]
Chr3:129155547..129155548 [GRCh37]
Chr3:3q21.3
pathogenic|uncertain significance
NM_001276270.2(MBD4):c.111A>T (p.Glu37Asp) single nucleotide variant not provided [RCV003565501]|not specified [RCV001820692] Chr3:129437944 [GRCh38]
Chr3:129156787 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.31C>T (p.Leu11=) single nucleotide variant MBD4-related disorder [RCV003968582]|not provided [RCV002542659]|not specified [RCV001822521] Chr3:129439803 [GRCh38]
Chr3:129158646 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1183+17A>G single nucleotide variant not provided [RCV002545174]|not specified [RCV001822633] Chr3:129436444 [GRCh38]
Chr3:129155287 [GRCh37]
Chr3:3q21.3
likely benign|uncertain significance
NM_001276270.2(MBD4):c.1372A>G (p.Ile458Val) single nucleotide variant not specified [RCV001822641] Chr3:129433871 [GRCh38]
Chr3:129152714 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1160C>T (p.Ser387Leu) single nucleotide variant Inborn genetic diseases [RCV004040996]|not provided [RCV003560864]|not specified [RCV001822664] Chr3:129436484 [GRCh38]
Chr3:129155327 [GRCh37]
Chr3:3q21.3
uncertain significance
NC_000003.11:g.(?_129150344)_(129252561_?)dup duplication Cranioectodermal dysplasia 1 [RCV001961718]|not provided [RCV003107934] Chr3:129150344..129252561 [GRCh37]
Chr3:3q21.3-22.1
uncertain significance|no classifications from unflagged records
NC_000003.11:g.(?_120365818)_(133465047_?)del deletion Alkaptonuria [RCV002035459] Chr3:120365818..133465047 [GRCh37]
Chr3:3q13.33-22.1
pathogenic
NC_000003.11:g.(?_129150344)_(129159234_?)dup duplication Cranioectodermal dysplasia 1 [RCV003122992] Chr3:129150344..129159234 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1670T>A (p.Leu557Ter) single nucleotide variant Melanoma, uveal, susceptibility to, 1 [RCV002274502]|Tumor predisposition syndrome 2 [RCV002274503]|not provided [RCV003096173] Chr3:129431556 [GRCh38]
Chr3:129150399 [GRCh37]
Chr3:3q21.3
pathogenic|risk factor|uncertain significance
NM_003925.2:c.1699_1701del deletion Tumor predisposition syndrome 2 [RCV002274498]   pathogenic
NM_001276270.2(MBD4):c.1688G>A (p.Trp563Ter) single nucleotide variant Melanoma, uveal, susceptibility to, 1 [RCV002274505]|not provided [RCV003660917] Chr3:129431538 [GRCh38]
Chr3:129150381 [GRCh37]
Chr3:3q21.3
risk factor|uncertain significance
NM_001276270.2(MBD4):c.1544-1G>T single nucleotide variant MBD4-related disorder [RCV004757536]|Melanoma, uveal, susceptibility to, 1 [RCV002274499]|Tumor predisposition syndrome 2 [RCV002274500]|not provided [RCV003101557] Chr3:129432607 [GRCh38]
Chr3:129151450 [GRCh37]
Chr3:3q21.3
pathogenic|likely pathogenic|risk factor
NM_001276270.2(MBD4):c.217C>T (p.Gln73Ter) single nucleotide variant Tumor predisposition syndrome 2 [RCV002274501]|not provided [RCV003728063] Chr3:129437838 [GRCh38]
Chr3:129156681 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001276270.2(MBD4):c.1384C>T (p.Arg462Trp) single nucleotide variant Melanoma, uveal, susceptibility to, 1 [RCV002274506] Chr3:129433859 [GRCh38]
Chr3:129152702 [GRCh37]
Chr3:3q21.3
risk factor
NM_001276270.2(MBD4):c.612_615del (p.Ser205fs) microsatellite Tumor predisposition syndrome 2 [RCV002274504]|not provided [RCV003708633] Chr3:129437029..129437032 [GRCh38]
Chr3:129155872..129155875 [GRCh37]
Chr3:3q21.3
pathogenic
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31
pathogenic
NM_001276270.2(MBD4):c.217C>G (p.Gln73Glu) single nucleotide variant not provided [RCV002858236] Chr3:129437838 [GRCh38]
Chr3:129156681 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.247C>T (p.Arg83Cys) single nucleotide variant not provided [RCV002994789] Chr3:129437808 [GRCh38]
Chr3:129156651 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1213_1216del (p.Arg405fs) microsatellite not provided [RCV002731334] Chr3:129434104..129434107 [GRCh38]
Chr3:129152947..129152950 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001276270.2(MBD4):c.572C>T (p.Pro191Leu) single nucleotide variant Inborn genetic diseases [RCV004064298]|not provided [RCV002512236] Chr3:129437072 [GRCh38]
Chr3:129155915 [GRCh37]
Chr3:3q21.3
likely benign|conflicting interpretations of pathogenicity
NM_001276270.2(MBD4):c.1350A>G (p.Pro450=) single nucleotide variant MBD4-related disorder [RCV003973617]|not provided [RCV002994826] Chr3:129433893 [GRCh38]
Chr3:129152736 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1108C>T (p.His370Tyr) single nucleotide variant Inborn genetic diseases [RCV002902474]|not provided [RCV003708713] Chr3:129436536 [GRCh38]
Chr3:129155379 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1647+13C>G single nucleotide variant not provided [RCV002731500] Chr3:129432490 [GRCh38]
Chr3:129151333 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.508C>G (p.Gln170Glu) single nucleotide variant Inborn genetic diseases [RCV002778131]|not provided [RCV003669332] Chr3:129437136 [GRCh38]
Chr3:129155979 [GRCh37]
Chr3:3q21.3
likely benign|uncertain significance
NM_001276270.2(MBD4):c.1023C>G (p.Asp341Glu) single nucleotide variant not provided [RCV002815814] Chr3:129436621 [GRCh38]
Chr3:129155464 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.803_804del (p.Val267_Cys268insTer) microsatellite not provided [RCV002512235] Chr3:129436840..129436841 [GRCh38]
Chr3:129155683..129155684 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001276270.2(MBD4):c.1478T>C (p.Val493Ala) single nucleotide variant Inborn genetic diseases [RCV004073323]|not provided [RCV003097504] Chr3:129433163 [GRCh38]
Chr3:129152006 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.662ATG[1] (p.Asp222del) microsatellite not provided [RCV002995674] Chr3:129436977..129436979 [GRCh38]
Chr3:129155820..129155822 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.587C>T (p.Ser196Leu) single nucleotide variant Inborn genetic diseases [RCV002969213]|not provided [RCV003699004] Chr3:129437057 [GRCh38]
Chr3:129155900 [GRCh37]
Chr3:3q21.3
likely benign|uncertain significance
NM_001276270.2(MBD4):c.494C>G (p.Ser165Cys) single nucleotide variant MBD4-related disorder [RCV003898527]|not provided [RCV002751250] Chr3:129437150 [GRCh38]
Chr3:129155993 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.336C>T (p.Ser112=) single nucleotide variant MBD4-related disorder [RCV003961152]|not provided [RCV002907699] Chr3:129437308 [GRCh38]
Chr3:129156151 [GRCh37]
Chr3:3q21.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001276270.2(MBD4):c.207C>T (p.Ile69=) single nucleotide variant not provided [RCV002786047] Chr3:129437848 [GRCh38]
Chr3:129156691 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.707C>T (p.Thr236Ile) single nucleotide variant Inborn genetic diseases [RCV004642036]|not provided [RCV002785823] Chr3:129436937 [GRCh38]
Chr3:129155780 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1462G>T (p.Ala488Ser) single nucleotide variant not provided [RCV002796895] Chr3:129433179 [GRCh38]
Chr3:129152022 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1276C>T (p.Arg426Cys) single nucleotide variant not provided [RCV003002857] Chr3:129433967 [GRCh38]
Chr3:129152810 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.105-15A>G single nucleotide variant not provided [RCV002736115] Chr3:129437965 [GRCh38]
Chr3:129156808 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.941A>G (p.Glu314Gly) single nucleotide variant Inborn genetic diseases [RCV002910919]|not provided [RCV003708715] Chr3:129436703 [GRCh38]
Chr3:129155546 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1224A>C (p.Thr408=) single nucleotide variant not provided [RCV002846912] Chr3:129434096 [GRCh38]
Chr3:129152939 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.97G>C (p.Asp33His) single nucleotide variant not provided [RCV003053559] Chr3:129439737 [GRCh38]
Chr3:129158580 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1069G>A (p.Glu357Lys) single nucleotide variant Inborn genetic diseases [RCV002706818] Chr3:129436575 [GRCh38]
Chr3:129155418 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1535A>G (p.Lys512Arg) single nucleotide variant not provided [RCV002736012] Chr3:129433106 [GRCh38]
Chr3:129151949 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1074C>T (p.Ile358=) single nucleotide variant not provided [RCV002918199] Chr3:129436570 [GRCh38]
Chr3:129155413 [GRCh37]
Chr3:3q21.3
benign
NM_001276270.2(MBD4):c.715A>G (p.Lys239Glu) single nucleotide variant not provided [RCV003083822] Chr3:129436929 [GRCh38]
Chr3:129155772 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1510G>C (p.Asp504His) single nucleotide variant Inborn genetic diseases [RCV002893375] Chr3:129433131 [GRCh38]
Chr3:129151974 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1625T>C (p.Phe542Ser) single nucleotide variant Inborn genetic diseases [RCV002763052] Chr3:129432525 [GRCh38]
Chr3:129151368 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.846_849del (p.Gln283fs) deletion not provided [RCV002872292] Chr3:129436795..129436798 [GRCh38]
Chr3:129155638..129155641 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001276270.2(MBD4):c.1244A>G (p.Lys415Arg) single nucleotide variant Inborn genetic diseases [RCV002743298]|not provided [RCV003574991] Chr3:129434076 [GRCh38]
Chr3:129152919 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1647+16A>G single nucleotide variant not provided [RCV002811575] Chr3:129432487 [GRCh38]
Chr3:129151330 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1268C>T (p.Pro423Leu) single nucleotide variant Inborn genetic diseases [RCV002719498] Chr3:129433975 [GRCh38]
Chr3:129152818 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.435A>G (p.Val145=) single nucleotide variant not provided [RCV002581729] Chr3:129437209 [GRCh38]
Chr3:129156052 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.478A>G (p.Met160Val) single nucleotide variant Inborn genetic diseases [RCV002934496] Chr3:129437166 [GRCh38]
Chr3:129156009 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.61A>G (p.Thr21Ala) single nucleotide variant not provided [RCV002898633] Chr3:129439773 [GRCh38]
Chr3:129158616 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.614_615del (p.Leu204_Ser205insTer) microsatellite not provided [RCV003045597] Chr3:129437029..129437030 [GRCh38]
Chr3:129155872..129155873 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001276270.2(MBD4):c.959G>A (p.Gly320Glu) single nucleotide variant not provided [RCV003087565] Chr3:129436685 [GRCh38]
Chr3:129155528 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1166C>T (p.Thr389Ile) single nucleotide variant Inborn genetic diseases [RCV002769807] Chr3:129436478 [GRCh38]
Chr3:129155321 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.985A>T (p.Thr329Ser) single nucleotide variant not provided [RCV002835389] Chr3:129436659 [GRCh38]
Chr3:129155502 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.248G>A (p.Arg83His) single nucleotide variant not provided [RCV003031053] Chr3:129437807 [GRCh38]
Chr3:129156650 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.942_945del (p.Glu314fs) microsatellite not provided [RCV002651737] Chr3:129436699..129436702 [GRCh38]
Chr3:129155542..129155545 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001276270.2(MBD4):c.953G>C (p.Ser318Thr) single nucleotide variant not provided [RCV003044533] Chr3:129436691 [GRCh38]
Chr3:129155534 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.695A>T (p.Lys232Ile) single nucleotide variant Inborn genetic diseases [RCV002673075]|not provided [RCV003777623] Chr3:129436949 [GRCh38]
Chr3:129155792 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1451T>C (p.Val484Ala) single nucleotide variant Inborn genetic diseases [RCV002812976] Chr3:129433190 [GRCh38]
Chr3:129152033 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.679A>C (p.Lys227Gln) single nucleotide variant not provided [RCV003061241] Chr3:129436965 [GRCh38]
Chr3:129155808 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1574C>T (p.Pro525Leu) single nucleotide variant Inborn genetic diseases [RCV002678943] Chr3:129432576 [GRCh38]
Chr3:129151419 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1163C>G (p.Pro388Arg) single nucleotide variant not provided [RCV002584762] Chr3:129436481 [GRCh38]
Chr3:129155324 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1074C>A (p.Ile358=) single nucleotide variant not provided [RCV003068049] Chr3:129436570 [GRCh38]
Chr3:129155413 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.828A>C (p.Glu276Asp) single nucleotide variant not provided [RCV002943314] Chr3:129436816 [GRCh38]
Chr3:129155659 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.542G>A (p.Arg181Gln) single nucleotide variant not provided [RCV002582341] Chr3:129437102 [GRCh38]
Chr3:129155945 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.986C>A (p.Thr329Asn) single nucleotide variant not provided [RCV002607734] Chr3:129436658 [GRCh38]
Chr3:129155501 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.775C>G (p.Gln259Glu) single nucleotide variant not provided [RCV002654837] Chr3:129436869 [GRCh38]
Chr3:129155712 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.682G>C (p.Val228Leu) single nucleotide variant not provided [RCV003073151] Chr3:129436962 [GRCh38]
Chr3:129155805 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1424T>A (p.Phe475Tyr) single nucleotide variant Inborn genetic diseases [RCV003216184] Chr3:129433217 [GRCh38]
Chr3:129152060 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.737C>T (p.Thr246Ile) single nucleotide variant Inborn genetic diseases [RCV003263268]|not provided [RCV003679183] Chr3:129436907 [GRCh38]
Chr3:129155750 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.736A>T (p.Thr246Ser) single nucleotide variant Inborn genetic diseases [RCV003378738] Chr3:129436908 [GRCh38]
Chr3:129155751 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.619T>A (p.Phe207Ile) single nucleotide variant Inborn genetic diseases [RCV003379397] Chr3:129437025 [GRCh38]
Chr3:129155868 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1171A>G (p.Lys391Glu) single nucleotide variant Inborn genetic diseases [RCV003344987]|not provided [RCV003669393] Chr3:129436473 [GRCh38]
Chr3:129155316 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1312C>T (p.Pro438Ser) single nucleotide variant Inborn genetic diseases [RCV003352532] Chr3:129433931 [GRCh38]
Chr3:129152774 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.718G>A (p.Gly240Arg) single nucleotide variant not provided [RCV003543873] Chr3:129436926 [GRCh38]
Chr3:129155769 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1472G>T (p.Arg491Ile) single nucleotide variant not provided [RCV003826792] Chr3:129433169 [GRCh38]
Chr3:129152012 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.595C>G (p.Gln199Glu) single nucleotide variant not provided [RCV003570476] Chr3:129437049 [GRCh38]
Chr3:129155892 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.495C>T (p.Ser165=) single nucleotide variant not provided [RCV003543703] Chr3:129437149 [GRCh38]
Chr3:129155992 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.44G>A (p.Gly15Glu) single nucleotide variant not provided [RCV003571856] Chr3:129439790 [GRCh38]
Chr3:129158633 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.816T>C (p.Asp272=) single nucleotide variant not provided [RCV003457393] Chr3:129436828 [GRCh38]
Chr3:129155671 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1516C>T (p.Arg506Trp) single nucleotide variant not provided [RCV003874762] Chr3:129433125 [GRCh38]
Chr3:129151968 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.7A>G (p.Thr3Ala) single nucleotide variant not provided [RCV003542983] Chr3:129439827 [GRCh38]
Chr3:129158670 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1335A>C (p.Thr445=) single nucleotide variant not provided [RCV003569812] Chr3:129433908 [GRCh38]
Chr3:129152751 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.879T>C (p.Ala293=) single nucleotide variant not provided [RCV003427357] Chr3:129436765 [GRCh38]
Chr3:129155608 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1253_1254del (p.Lys418fs) deletion not provided [RCV003427356] Chr3:129434066..129434067 [GRCh38]
Chr3:129152909..129152910 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001276270.2(MBD4):c.512_524del (p.Ser171fs) deletion not provided [RCV003575194] Chr3:129437120..129437132 [GRCh38]
Chr3:129155963..129155975 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001276270.2(MBD4):c.1132C>T (p.Arg378Cys) single nucleotide variant not provided [RCV003575299] Chr3:129436512 [GRCh38]
Chr3:129155355 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1648-18A>G single nucleotide variant not provided [RCV003577150] Chr3:129431596 [GRCh38]
Chr3:129150439 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1313C>G (p.Pro438Arg) single nucleotide variant not provided [RCV003660140] Chr3:129433930 [GRCh38]
Chr3:129152773 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.9G>T (p.Thr3=) single nucleotide variant not provided [RCV003660389] Chr3:129439825 [GRCh38]
Chr3:129158668 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.748T>G (p.Cys250Gly) single nucleotide variant not provided [RCV003688670] Chr3:129436896 [GRCh38]
Chr3:129155739 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1279A>G (p.Lys427Glu) single nucleotide variant not provided [RCV003716171] Chr3:129433964 [GRCh38]
Chr3:129152807 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.986C>T (p.Thr329Ile) single nucleotide variant not provided [RCV003695836] Chr3:129436658 [GRCh38]
Chr3:129155501 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1648-20G>C single nucleotide variant not provided [RCV003579534] Chr3:129431598 [GRCh38]
Chr3:129150441 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.934A>G (p.Lys312Glu) single nucleotide variant not provided [RCV003579536] Chr3:129436710 [GRCh38]
Chr3:129155553 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.120T>C (p.Ala40=) single nucleotide variant not provided [RCV003579540] Chr3:129437935 [GRCh38]
Chr3:129156778 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.136G>C (p.Val46Leu) single nucleotide variant not provided [RCV003579417] Chr3:129437919 [GRCh38]
Chr3:129156762 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.403T>G (p.Ser135Ala) single nucleotide variant not provided [RCV003878326] Chr3:129437241 [GRCh38]
Chr3:129156084 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1648-10T>C single nucleotide variant not provided [RCV003577325] Chr3:129431588 [GRCh38]
Chr3:129150431 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.952A>G (p.Ser318Gly) single nucleotide variant not provided [RCV003577748] Chr3:129436692 [GRCh38]
Chr3:129155535 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.129G>T (p.Leu43Phe) single nucleotide variant not provided [RCV003577538] Chr3:129437926 [GRCh38]
Chr3:129156769 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.33G>A (p.Leu11=) single nucleotide variant not provided [RCV003579434] Chr3:129439801 [GRCh38]
Chr3:129158644 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.51C>G (p.Ala17=) single nucleotide variant not provided [RCV003547724] Chr3:129439783 [GRCh38]
Chr3:129158626 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.96T>C (p.Asn32=) single nucleotide variant not provided [RCV003689124] Chr3:129439738 [GRCh38]
Chr3:129158581 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1214G>A (p.Arg405Lys) single nucleotide variant not provided [RCV003882123] Chr3:129434106 [GRCh38]
Chr3:129152949 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1258+3A>G single nucleotide variant not provided [RCV003715449] Chr3:129434059 [GRCh38]
Chr3:129152902 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.335G>A (p.Ser112Asn) single nucleotide variant not provided [RCV003739983] Chr3:129437720 [GRCh38]
Chr3:129156563 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1435T>G (p.Tyr479Asp) single nucleotide variant not provided [RCV003574250] Chr3:129433206 [GRCh38]
Chr3:129152049 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.105-15A>T single nucleotide variant not provided [RCV003715052] Chr3:129437965 [GRCh38]
Chr3:129156808 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1267C>G (p.Pro423Ala) single nucleotide variant not provided [RCV003662685] Chr3:129433976 [GRCh38]
Chr3:129152819 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1184-20T>C single nucleotide variant not provided [RCV003662636] Chr3:129434156 [GRCh38]
Chr3:129152999 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.275G>C (p.Arg92Thr) single nucleotide variant not provided [RCV003660613] Chr3:129437780 [GRCh38]
Chr3:129156623 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.300del (p.Lys101fs) deletion not provided [RCV003577324] Chr3:129437755 [GRCh38]
Chr3:129156598 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001276270.2(MBD4):c.558G>C (p.Lys186Asn) single nucleotide variant not provided [RCV003662699] Chr3:129437086 [GRCh38]
Chr3:129155929 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.773T>G (p.Val258Gly) single nucleotide variant not provided [RCV003575298] Chr3:129436871 [GRCh38]
Chr3:129155714 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1225A>G (p.Ser409Gly) single nucleotide variant not provided [RCV003547719] Chr3:129434095 [GRCh38]
Chr3:129152938 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1075G>A (p.Gly359Arg) single nucleotide variant not provided [RCV003663280] Chr3:129436569 [GRCh38]
Chr3:129155412 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.364del (p.Ser122fs) deletion not provided [RCV003577327] Chr3:129437280 [GRCh38]
Chr3:129156123 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001276270.2(MBD4):c.557A>G (p.Lys186Arg) single nucleotide variant not provided [RCV003576945] Chr3:129437087 [GRCh38]
Chr3:129155930 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1168A>G (p.Arg390Gly) single nucleotide variant not provided [RCV003660753] Chr3:129436476 [GRCh38]
Chr3:129155319 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1266C>A (p.Ser422Arg) single nucleotide variant not provided [RCV003575402] Chr3:129433977 [GRCh38]
Chr3:129152820 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1259-7T>G single nucleotide variant not provided [RCV003876504] Chr3:129433991 [GRCh38]
Chr3:129152834 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1501G>C (p.Gly501Arg) single nucleotide variant not provided [RCV003577334] Chr3:129433140 [GRCh38]
Chr3:129151983 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.10A>G (p.Thr4Ala) single nucleotide variant not provided [RCV003878550] Chr3:129439824 [GRCh38]
Chr3:129158667 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.426T>C (p.Asp142=) single nucleotide variant not provided [RCV003576842] Chr3:129437218 [GRCh38]
Chr3:129156061 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1413G>A (p.Val471=) single nucleotide variant not provided [RCV003875824] Chr3:129433228 [GRCh38]
Chr3:129152071 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.629C>A (p.Thr210Asn) single nucleotide variant not provided [RCV003689397] Chr3:129437015 [GRCh38]
Chr3:129155858 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1545T>A (p.Asp515Glu) single nucleotide variant not provided [RCV003662335] Chr3:129432605 [GRCh38]
Chr3:129151448 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1420A>C (p.Lys474Gln) single nucleotide variant not provided [RCV003575554] Chr3:129433221 [GRCh38]
Chr3:129152064 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.742_744del (p.Lys248del) deletion not provided [RCV003688703] Chr3:129436900..129436902 [GRCh38]
Chr3:129155743..129155745 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.342A>G (p.Gln114=) single nucleotide variant not provided [RCV003830801] Chr3:129437302 [GRCh38]
Chr3:129156145 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.819T>C (p.Ala273=) single nucleotide variant not provided [RCV003547502] Chr3:129436825 [GRCh38]
Chr3:129155668 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1053C>T (p.Thr351=) single nucleotide variant not provided [RCV003881463] Chr3:129436591 [GRCh38]
Chr3:129155434 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.336-19C>T single nucleotide variant not provided [RCV003575416] Chr3:129437327 [GRCh38]
Chr3:129156170 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1138T>C (p.Ser380Pro) single nucleotide variant not provided [RCV003578773] Chr3:129436506 [GRCh38]
Chr3:129155349 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1145T>A (p.Met382Lys) single nucleotide variant not provided [RCV003577510] Chr3:129436499 [GRCh38]
Chr3:129155342 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1183+12_1183+16del deletion not provided [RCV003662969] Chr3:129436445..129436449 [GRCh38]
Chr3:129155288..129155292 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001276270.2(MBD4):c.110A>T (p.Glu37Val) single nucleotide variant not provided [RCV003825165] Chr3:129437945 [GRCh38]
Chr3:129156788 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.273A>T (p.Glu91Asp) single nucleotide variant not provided [RCV003545264] Chr3:129437782 [GRCh38]
Chr3:129156625 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1274G>T (p.Arg425Leu) single nucleotide variant not provided [RCV003715479] Chr3:129433969 [GRCh38]
Chr3:129152812 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.943_946dup (p.Ser316Ter) duplication not provided [RCV003575532] Chr3:129436697..129436698 [GRCh38]
Chr3:129155540..129155541 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001276270.2(MBD4):c.1193T>C (p.Ile398Thr) single nucleotide variant not provided [RCV003544570] Chr3:129434127 [GRCh38]
Chr3:129152970 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.878C>T (p.Ala293Val) single nucleotide variant not provided [RCV003577617] Chr3:129436766 [GRCh38]
Chr3:129155609 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1472G>C (p.Arg491Thr) single nucleotide variant not provided [RCV003577616] Chr3:129433169 [GRCh38]
Chr3:129152012 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1577T>C (p.Ile526Thr) single nucleotide variant not provided [RCV003547050] Chr3:129432573 [GRCh38]
Chr3:129151416 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1569G>C (p.Lys523Asn) single nucleotide variant not provided [RCV003577231] Chr3:129432581 [GRCh38]
Chr3:129151424 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1635T>C (p.Asn545=) single nucleotide variant not provided [RCV003544305] Chr3:129432515 [GRCh38]
Chr3:129151358 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1035C>A (p.Asn345Lys) single nucleotide variant not provided [RCV003663150] Chr3:129436609 [GRCh38]
Chr3:129155452 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1254_1257del (p.Glu419fs) deletion not provided [RCV003547603] Chr3:129434063..129434066 [GRCh38]
Chr3:129152906..129152909 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001276270.2(MBD4):c.104+13C>A single nucleotide variant not provided [RCV003660227] Chr3:129439717 [GRCh38]
Chr3:129158560 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.356G>T (p.Arg119Ile) single nucleotide variant not provided [RCV003547194] Chr3:129437288 [GRCh38]
Chr3:129156131 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1393+18A>G single nucleotide variant not provided [RCV003575297] Chr3:129433832 [GRCh38]
Chr3:129152675 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1350A>C (p.Pro450=) single nucleotide variant not provided [RCV003575818] Chr3:129433893 [GRCh38]
Chr3:129152736 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1002_1005del (p.Lys335fs) deletion not provided [RCV003662726] Chr3:129436639..129436642 [GRCh38]
Chr3:129155482..129155485 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001276270.2(MBD4):c.1183+10T>C single nucleotide variant not provided [RCV003659740] Chr3:129436451 [GRCh38]
Chr3:129155294 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.999A>C (p.Ile333=) single nucleotide variant not provided [RCV003547295] Chr3:129436645 [GRCh38]
Chr3:129155488 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.105-16G>A single nucleotide variant not provided [RCV003715125] Chr3:129437966 [GRCh38]
Chr3:129156809 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1176C>A (p.Asp392Glu) single nucleotide variant not provided [RCV003662006] Chr3:129436468 [GRCh38]
Chr3:129155311 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.350A>C (p.Lys117Thr) single nucleotide variant not provided [RCV003692661] Chr3:129437294 [GRCh38]
Chr3:129156137 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1636G>A (p.Glu546Lys) single nucleotide variant not provided [RCV003545626] Chr3:129432514 [GRCh38]
Chr3:129151357 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.872C>T (p.Ser291Phe) single nucleotide variant not provided [RCV003547254] Chr3:129436772 [GRCh38]
Chr3:129155615 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1543+10T>A single nucleotide variant not provided [RCV003687558] Chr3:129433088 [GRCh38]
Chr3:129151931 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1543+11A>G single nucleotide variant not provided [RCV003715535] Chr3:129433087 [GRCh38]
Chr3:129151930 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.392A>G (p.Asn131Ser) single nucleotide variant not provided [RCV003713990] Chr3:129437252 [GRCh38]
Chr3:129156095 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1716T>G (p.Ser572Arg) single nucleotide variant not provided [RCV003715344] Chr3:129431510 [GRCh38]
Chr3:129150353 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.549G>A (p.Lys183=) single nucleotide variant not provided [RCV003824673] Chr3:129437095 [GRCh38]
Chr3:129155938 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.232G>C (p.Ala78Pro) single nucleotide variant not provided [RCV003547051] Chr3:129437823 [GRCh38]
Chr3:129156666 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.412C>G (p.Pro138Ala) single nucleotide variant not provided [RCV003662573] Chr3:129437232 [GRCh38]
Chr3:129156075 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.652G>A (p.Glu218Lys) single nucleotide variant not provided [RCV003545653] Chr3:129436992 [GRCh38]
Chr3:129155835 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.188C>T (p.Pro63Leu) single nucleotide variant not provided [RCV003547253] Chr3:129437867 [GRCh38]
Chr3:129156710 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1255G>A (p.Glu419Lys) single nucleotide variant not provided [RCV003549927] Chr3:129434065 [GRCh38]
Chr3:129152908 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1003A>G (p.Lys335Glu) single nucleotide variant not provided [RCV003664377] Chr3:129436641 [GRCh38]
Chr3:129155484 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.570GCC[1] (p.Pro192del) microsatellite not provided [RCV003664564] Chr3:129437069..129437071 [GRCh38]
Chr3:129155912..129155914 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1281A>G (p.Lys427=) single nucleotide variant not provided [RCV003548241] Chr3:129433962 [GRCh38]
Chr3:129152805 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.683T>A (p.Val228Asp) single nucleotide variant MBD4-related disorder [RCV004757617]|not provided [RCV003833336] Chr3:129436961 [GRCh38]
Chr3:129155804 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1183+27T>G single nucleotide variant not provided [RCV003666015] Chr3:129436434 [GRCh38]
Chr3:129155277 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1509C>T (p.Tyr503=) single nucleotide variant not provided [RCV003666142] Chr3:129433132 [GRCh38]
Chr3:129151975 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1704T>C (p.His568=) single nucleotide variant not provided [RCV003549479] Chr3:129431522 [GRCh38]
Chr3:129150365 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1494A>G (p.Lys498=) single nucleotide variant not provided [RCV003665011] Chr3:129433147 [GRCh38]
Chr3:129151990 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.943A>G (p.Arg315Gly) single nucleotide variant not provided [RCV003659637] Chr3:129436701 [GRCh38]
Chr3:129155544 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1667A>G (p.Lys556Arg) single nucleotide variant not provided [RCV003698284] Chr3:129431559 [GRCh38]
Chr3:129150402 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.139G>A (p.Gly47Arg) single nucleotide variant not provided [RCV003698621] Chr3:129437916 [GRCh38]
Chr3:129156759 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1259-15A>C single nucleotide variant not provided [RCV003698319] Chr3:129433999 [GRCh38]
Chr3:129152842 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.523A>C (p.Asn175His) single nucleotide variant not provided [RCV003549569] Chr3:129437121 [GRCh38]
Chr3:129155964 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1647+20A>G single nucleotide variant not provided [RCV003665046] Chr3:129432483 [GRCh38]
Chr3:129151326 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.555A>G (p.Lys185=) single nucleotide variant not provided [RCV003703560] Chr3:129437089 [GRCh38]
Chr3:129155932 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.672C>T (p.Asn224=) single nucleotide variant not provided [RCV003659535] Chr3:129436972 [GRCh38]
Chr3:129155815 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.115G>A (p.Val39Ile) single nucleotide variant Inborn genetic diseases [RCV004416848] Chr3:129437940 [GRCh38]
Chr3:129156783 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1508A>G (p.Tyr503Cys) single nucleotide variant Inborn genetic diseases [RCV004416849] Chr3:129433133 [GRCh38]
Chr3:129151976 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1544-7T>C single nucleotide variant not provided [RCV003703316] Chr3:129432613 [GRCh38]
Chr3:129151456 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1461C>T (p.Thr487=) single nucleotide variant not provided [RCV003697070] Chr3:129433180 [GRCh38]
Chr3:129152023 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1686C>T (p.Asp562=) single nucleotide variant not provided [RCV003698078] Chr3:129431540 [GRCh38]
Chr3:129150383 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.11C>G (p.Thr4Ser) single nucleotide variant not provided [RCV003665871] Chr3:129439823 [GRCh38]
Chr3:129158666 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1266C>T (p.Ser422=) single nucleotide variant not provided [RCV003665909] Chr3:129433977 [GRCh38]
Chr3:129152820 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.835G>A (p.Ala279Thr) single nucleotide variant not provided [RCV003665106] Chr3:129436809 [GRCh38]
Chr3:129155652 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.890G>C (p.Gly297Ala) single nucleotide variant not provided [RCV003703148] Chr3:129436754 [GRCh38]
Chr3:129155597 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1195C>T (p.Pro399Ser) single nucleotide variant not provided [RCV003703193] Chr3:129434125 [GRCh38]
Chr3:129152968 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.105-19T>G single nucleotide variant not provided [RCV003703609] Chr3:129437969 [GRCh38]
Chr3:129156812 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1544-17G>C single nucleotide variant not provided [RCV003703231] Chr3:129432623 [GRCh38]
Chr3:129151466 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1038G>A (p.Glu346=) single nucleotide variant not provided [RCV003668339] Chr3:129436606 [GRCh38]
Chr3:129155449 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1421A>C (p.Lys474Thr) single nucleotide variant not provided [RCV003550125] Chr3:129433220 [GRCh38]
Chr3:129152063 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.594G>A (p.Leu198=) single nucleotide variant not provided [RCV003673705] Chr3:129437050 [GRCh38]
Chr3:129155893 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.743A>G (p.Lys248Arg) single nucleotide variant not provided [RCV003666711] Chr3:129436901 [GRCh38]
Chr3:129155744 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1543+5T>C single nucleotide variant not provided [RCV003726559] Chr3:129433093 [GRCh38]
Chr3:129151936 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.840A>G (p.Gln280=) single nucleotide variant not provided [RCV003703431] Chr3:129436804 [GRCh38]
Chr3:129155647 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.57C>T (p.Thr19=) single nucleotide variant not provided [RCV003663778] Chr3:129439777 [GRCh38]
Chr3:129158620 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.521C>T (p.Ser174Leu) single nucleotide variant not provided [RCV003698074] Chr3:129437123 [GRCh38]
Chr3:129155966 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.962C>G (p.Ser321Ter) single nucleotide variant not provided [RCV003664787] Chr3:129436682 [GRCh38]
Chr3:129155525 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001276270.2(MBD4):c.596A>G (p.Gln199Arg) single nucleotide variant not provided [RCV003700955] Chr3:129437048 [GRCh38]
Chr3:129155891 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.629C>T (p.Thr210Ile) single nucleotide variant not provided [RCV003663935] Chr3:129437015 [GRCh38]
Chr3:129155858 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.233C>G (p.Ala78Gly) single nucleotide variant not provided [RCV003725754] Chr3:129437822 [GRCh38]
Chr3:129156665 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1648-12T>C single nucleotide variant not provided [RCV003702815] Chr3:129431590 [GRCh38]
Chr3:129150433 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1677A>G (p.Lys559=) single nucleotide variant not provided [RCV003703221] Chr3:129431549 [GRCh38]
Chr3:129150392 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.938_939dup (p.Glu314fs) duplication not provided [RCV003673567] Chr3:129436704..129436705 [GRCh38]
Chr3:129155547..129155548 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001276270.2(MBD4):c.1618C>T (p.Arg540Ter) single nucleotide variant not provided [RCV003724211] Chr3:129432532 [GRCh38]
Chr3:129151375 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1052C>T (p.Thr351Ile) single nucleotide variant not provided [RCV003672016] Chr3:129436592 [GRCh38]
Chr3:129155435 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.282G>T (p.Val94=) single nucleotide variant not provided [RCV003672638] Chr3:129437773 [GRCh38]
Chr3:129156616 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.159GAT[1] (p.Met54del) microsatellite not provided [RCV003702320] Chr3:129437891..129437893 [GRCh38]
Chr3:129156734..129156736 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.25_26del (p.Leu9fs) deletion not provided [RCV003698459] Chr3:129439808..129439809 [GRCh38]
Chr3:129158651..129158652 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001276270.2(MBD4):c.749G>A (p.Cys250Tyr) single nucleotide variant not provided [RCV003701966] Chr3:129436895 [GRCh38]
Chr3:129155738 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1543+17C>G single nucleotide variant not provided [RCV003698406] Chr3:129433081 [GRCh38]
Chr3:129151924 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.578G>A (p.Ser193Asn) single nucleotide variant not provided [RCV003665178] Chr3:129437066 [GRCh38]
Chr3:129155909 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1274G>A (p.Arg425Gln) single nucleotide variant not provided [RCV003702894] Chr3:129433969 [GRCh38]
Chr3:129152812 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1362C>T (p.Leu454=) single nucleotide variant not provided [RCV003700632] Chr3:129433881 [GRCh38]
Chr3:129152724 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1115A>C (p.His372Pro) single nucleotide variant not provided [RCV003672137] Chr3:129436529 [GRCh38]
Chr3:129155372 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.849G>A (p.Gln283=) single nucleotide variant not provided [RCV003703234] Chr3:129436795 [GRCh38]
Chr3:129155638 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.359C>G (p.Ser120Cys) single nucleotide variant not provided [RCV003673674] Chr3:129437285 [GRCh38]
Chr3:129156128 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1337T>G (p.Leu446Arg) single nucleotide variant not provided [RCV003672528] Chr3:129433906 [GRCh38]
Chr3:129152749 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.414AGA[1] (p.Glu139del) microsatellite not provided [RCV003673038] Chr3:129437225..129437227 [GRCh38]
Chr3:129156068..129156070 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1611C>T (p.Asp537=) single nucleotide variant not provided [RCV003665812] Chr3:129432539 [GRCh38]
Chr3:129151382 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1637A>T (p.Glu546Val) single nucleotide variant not provided [RCV003665760] Chr3:129432513 [GRCh38]
Chr3:129151356 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.541C>T (p.Arg181Ter) single nucleotide variant not provided [RCV003665855] Chr3:129437103 [GRCh38]
Chr3:129155946 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001276270.2(MBD4):c.282G>A (p.Val94=) single nucleotide variant not provided [RCV003701029] Chr3:129437773 [GRCh38]
Chr3:129156616 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.997A>G (p.Ile333Val) single nucleotide variant not provided [RCV003702280] Chr3:129436647 [GRCh38]
Chr3:129155490 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1343A>G (p.His448Arg) single nucleotide variant not provided [RCV003671030] Chr3:129433900 [GRCh38]
Chr3:129152743 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.501A>G (p.Leu167=) single nucleotide variant not provided [RCV003723269] Chr3:129437143 [GRCh38]
Chr3:129155986 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1273C>T (p.Arg425Ter) single nucleotide variant not provided [RCV003724212] Chr3:129433970 [GRCh38]
Chr3:129152813 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001276270.2(MBD4):c.138G>A (p.Val46=) single nucleotide variant not provided [RCV003670936] Chr3:129437917 [GRCh38]
Chr3:129156760 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.193C>A (p.Leu65Ile) single nucleotide variant not provided [RCV003664031] Chr3:129437862 [GRCh38]
Chr3:129156705 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.230C>T (p.Thr77Ile) single nucleotide variant not provided [RCV003659067] Chr3:129437825 [GRCh38]
Chr3:129156668 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.570G>A (p.Met190Ile) single nucleotide variant not provided [RCV003700819] Chr3:129437074 [GRCh38]
Chr3:129155917 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.201A>T (p.Glu67Asp) single nucleotide variant not provided [RCV003724726] Chr3:129437854 [GRCh38]
Chr3:129156697 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.347T>G (p.Leu116Arg) single nucleotide variant Inborn genetic diseases [RCV004369048]|MBD4-related disorder [RCV003954242]|not provided [RCV003548334] Chr3:129437297 [GRCh38]
Chr3:129156140 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1586A>G (p.His529Arg) single nucleotide variant not provided [RCV003672429] Chr3:129432564 [GRCh38]
Chr3:129151407 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.953G>A (p.Ser318Asn) single nucleotide variant not provided [RCV003698190] Chr3:129436691 [GRCh38]
Chr3:129155534 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1533C>G (p.Val511=) single nucleotide variant not provided [RCV003725601] Chr3:129433108 [GRCh38]
Chr3:129151951 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.57C>G (p.Thr19=) single nucleotide variant not provided [RCV003671323] Chr3:129439777 [GRCh38]
Chr3:129158620 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1682A>G (p.His561Arg) single nucleotide variant not provided [RCV003659372] Chr3:129431544 [GRCh38]
Chr3:129150387 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.336-11del deletion not provided [RCV003667002] Chr3:129437319 [GRCh38]
Chr3:129156162 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1131dup (p.Arg378fs) duplication not provided [RCV003668851] Chr3:129436512..129436513 [GRCh38]
Chr3:129155355..129155356 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001276270.2(MBD4):c.1576A>G (p.Ile526Val) single nucleotide variant not provided [RCV003580110] Chr3:129432574 [GRCh38]
Chr3:129151417 [GRCh37]
Chr3:3q21.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001276270.2(MBD4):c.1259-14C>G single nucleotide variant not provided [RCV003666394] Chr3:129433998 [GRCh38]
Chr3:129152841 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.646G>A (p.Glu216Lys) single nucleotide variant not provided [RCV003724016] Chr3:129436998 [GRCh38]
Chr3:129155841 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.451A>G (p.Ile151Val) single nucleotide variant not provided [RCV003813866] Chr3:129437193 [GRCh38]
Chr3:129156036 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1238C>G (p.Ser413Cys) single nucleotide variant not provided [RCV003672726] Chr3:129434082 [GRCh38]
Chr3:129152925 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1058T>C (p.Leu353Ser) single nucleotide variant not provided [RCV003668912] Chr3:129436586 [GRCh38]
Chr3:129155429 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1526C>T (p.Thr509Ile) single nucleotide variant not provided [RCV003668011] Chr3:129433115 [GRCh38]
Chr3:129151958 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1307G>A (p.Arg436Gln) single nucleotide variant not provided [RCV003559097] Chr3:129433936 [GRCh38]
Chr3:129152779 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1703A>G (p.His568Arg) single nucleotide variant not provided [RCV003731450] Chr3:129431523 [GRCh38]
Chr3:129150366 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1614T>C (p.Ser538=) single nucleotide variant not provided [RCV003729121] Chr3:129432536 [GRCh38]
Chr3:129151379 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1035C>T (p.Asn345=) single nucleotide variant not provided [RCV003712018] Chr3:129436609 [GRCh38]
Chr3:129155452 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.783T>C (p.Asp261=) single nucleotide variant not provided [RCV003710344] Chr3:129436861 [GRCh38]
Chr3:129155704 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.105-17A>C single nucleotide variant not provided [RCV003550611] Chr3:129437967 [GRCh38]
Chr3:129156810 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.615dup (p.Asn206Ter) duplication MBD4-related disorder [RCV004757594]|not provided [RCV003551469] Chr3:129437028..129437029 [GRCh38]
Chr3:129155871..129155872 [GRCh37]
Chr3:3q21.3
pathogenic|uncertain significance
NM_001276270.2(MBD4):c.335+1G>A single nucleotide variant not provided [RCV003734585] Chr3:129437719 [GRCh38]
Chr3:129156562 [GRCh37]
Chr3:3q21.3
likely pathogenic
NM_001276270.2(MBD4):c.88C>T (p.Pro30Ser) single nucleotide variant not provided [RCV003675959] Chr3:129439746 [GRCh38]
Chr3:129158589 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.99C>A (p.Asp33Glu) single nucleotide variant MBD4-related disorder [RCV003919298]|not provided [RCV003566771] Chr3:129439735 [GRCh38]
Chr3:129158578 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1394-1_1394insA insertion not provided [RCV003681158] Chr3:129433247..129433248 [GRCh38]
Chr3:129152090..129152091 [GRCh37]
Chr3:3q21.3
likely pathogenic
NM_001276270.2(MBD4):c.309A>G (p.Ala103=) single nucleotide variant not provided [RCV003551648] Chr3:129437746 [GRCh38]
Chr3:129156589 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1288A>G (p.Lys430Glu) single nucleotide variant not provided [RCV003551650] Chr3:129433955 [GRCh38]
Chr3:129152798 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.885A>G (p.Ala295=) single nucleotide variant not provided [RCV003733714] Chr3:129436759 [GRCh38]
Chr3:129155602 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1681C>T (p.His561Tyr) single nucleotide variant not provided [RCV003678788] Chr3:129431545 [GRCh38]
Chr3:129150388 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1425del (p.Leu476fs) deletion MBD4-related disorder [RCV004757598]|not provided [RCV003554473] Chr3:129433216 [GRCh38]
Chr3:129152059 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001276270.2(MBD4):c.939del (p.Glu314fs) deletion MBD4-related disorder [RCV003981042]|not provided [RCV003682117] Chr3:129436705 [GRCh38]
Chr3:129155548 [GRCh37]
Chr3:3q21.3
pathogenic|likely pathogenic|benign
NM_001276270.2(MBD4):c.22A>G (p.Ser8Gly) single nucleotide variant not provided [RCV003735545] Chr3:129439812 [GRCh38]
Chr3:129158655 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1393+2T>C single nucleotide variant not provided [RCV003705472] Chr3:129433848 [GRCh38]
Chr3:129152691 [GRCh37]
Chr3:3q21.3
likely pathogenic
NM_001276270.2(MBD4):c.266G>C (p.Gly89Ala) single nucleotide variant not provided [RCV003675796] Chr3:129437789 [GRCh38]
Chr3:129156632 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1259-14C>T single nucleotide variant not provided [RCV003550255] Chr3:129433998 [GRCh38]
Chr3:129152841 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1544-6C>T single nucleotide variant not provided [RCV003551926] Chr3:129432612 [GRCh38]
Chr3:129151455 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.106A>G (p.Lys36Glu) single nucleotide variant not provided [RCV003729176] Chr3:129437949 [GRCh38]
Chr3:129156792 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1479G>A (p.Val493=) single nucleotide variant not provided [RCV003733937] Chr3:129433162 [GRCh38]
Chr3:129152005 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.319G>T (p.Asp107Tyr) single nucleotide variant not provided [RCV003704453] Chr3:129437736 [GRCh38]
Chr3:129156579 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1019A>G (p.Lys340Arg) single nucleotide variant not provided [RCV003727283] Chr3:129436625 [GRCh38]
Chr3:129155468 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1648-17T>G single nucleotide variant not provided [RCV003705830] Chr3:129431595 [GRCh38]
Chr3:129150438 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.104+15C>T single nucleotide variant not provided [RCV003542156] Chr3:129439715 [GRCh38]
Chr3:129158558 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1393+17C>G single nucleotide variant not provided [RCV003707337] Chr3:129433833 [GRCh38]
Chr3:129152676 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.909C>T (p.Thr303=) single nucleotide variant not provided [RCV003678420] Chr3:129436735 [GRCh38]
Chr3:129155578 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1495C>A (p.Pro499Thr) single nucleotide variant not provided [RCV003710117] Chr3:129433146 [GRCh38]
Chr3:129151989 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.387C>A (p.His129Gln) single nucleotide variant not provided [RCV003710119] Chr3:129437257 [GRCh38]
Chr3:129156100 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.37G>A (p.Asp13Asn) single nucleotide variant not provided [RCV003710874] Chr3:129439797 [GRCh38]
Chr3:129158640 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1184-15A>G single nucleotide variant not provided [RCV003675515] Chr3:129434151 [GRCh38]
Chr3:129152994 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.249dup (p.Lys84Ter) duplication not provided [RCV003707903] Chr3:129437805..129437806 [GRCh38]
Chr3:129156648..129156649 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001276270.2(MBD4):c.1518G>A (p.Arg506=) single nucleotide variant not provided [RCV003707453] Chr3:129433123 [GRCh38]
Chr3:129151966 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1249A>G (p.Asn417Asp) single nucleotide variant not provided [RCV003707617] Chr3:129434071 [GRCh38]
Chr3:129152914 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.665A>T (p.Asp222Val) single nucleotide variant not provided [RCV003737292] Chr3:129436979 [GRCh38]
Chr3:129155822 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.229dup (p.Thr77fs) duplication not provided [RCV003675661] Chr3:129437825..129437826 [GRCh38]
Chr3:129156668..129156669 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001276270.2(MBD4):c.1183+1G>A single nucleotide variant not provided [RCV003551665] Chr3:129436460 [GRCh38]
Chr3:129155303 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1271C>A (p.Pro424Gln) single nucleotide variant not provided [RCV003675764] Chr3:129433972 [GRCh38]
Chr3:129152815 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1339T>C (p.Phe447Leu) single nucleotide variant not provided [RCV003737150] Chr3:129433904 [GRCh38]
Chr3:129152747 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1365C>T (p.Ile455=) single nucleotide variant not provided [RCV003705312] Chr3:129433878 [GRCh38]
Chr3:129152721 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1647+3G>A single nucleotide variant not provided [RCV003871346] Chr3:129432500 [GRCh38]
Chr3:129151343 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1060G>A (p.Glu354Lys) single nucleotide variant not provided [RCV003705383] Chr3:129436584 [GRCh38]
Chr3:129155427 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.335+11A>C single nucleotide variant not provided [RCV003552594] Chr3:129437709 [GRCh38]
Chr3:129156552 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1462G>A (p.Ala488Thr) single nucleotide variant not provided [RCV003871683] Chr3:129433179 [GRCh38]
Chr3:129152022 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.208G>A (p.Ala70Thr) single nucleotide variant not provided [RCV003556703] Chr3:129437847 [GRCh38]
Chr3:129156690 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.251A>C (p.Lys84Thr) single nucleotide variant not provided [RCV003681883] Chr3:129437804 [GRCh38]
Chr3:129156647 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.563T>C (p.Val188Ala) single nucleotide variant not provided [RCV003551471] Chr3:129437081 [GRCh38]
Chr3:129155924 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1206G>A (p.Gln402=) single nucleotide variant not provided [RCV003722776] Chr3:129434114 [GRCh38]
Chr3:129152957 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1229T>C (p.Leu410Pro) single nucleotide variant not provided [RCV003722936] Chr3:129434091 [GRCh38]
Chr3:129152934 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.573G>A (p.Pro191=) single nucleotide variant not provided [RCV003712192] Chr3:129437071 [GRCh38]
Chr3:129155914 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.167_169del (p.Lys56del) deletion not provided [RCV003722059] Chr3:129437886..129437888 [GRCh38]
Chr3:129156729..129156731 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.260C>T (p.Pro87Leu) single nucleotide variant not provided [RCV003552595] Chr3:129437795 [GRCh38]
Chr3:129156638 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1516C>G (p.Arg506Gly) single nucleotide variant not provided [RCV003681560] Chr3:129433125 [GRCh38]
Chr3:129151968 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.980A>G (p.Gln327Arg) single nucleotide variant not provided [RCV003683622] Chr3:129436664 [GRCh38]
Chr3:129155507 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1602T>C (p.Tyr534=) single nucleotide variant not provided [RCV003733589] Chr3:129432548 [GRCh38]
Chr3:129151391 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.344G>T (p.Gly115Val) single nucleotide variant not provided [RCV003568719] Chr3:129437300 [GRCh38]
Chr3:129156143 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1277G>A (p.Arg426His) single nucleotide variant not provided [RCV003734584] Chr3:129433966 [GRCh38]
Chr3:129152809 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1184-11T>A single nucleotide variant not provided [RCV003676649] Chr3:129434147 [GRCh38]
Chr3:129152990 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1634A>G (p.Asn545Ser) single nucleotide variant not provided [RCV003551316] Chr3:129432516 [GRCh38]
Chr3:129151359 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1394-15A>C single nucleotide variant not provided [RCV003679909] Chr3:129433262 [GRCh38]
Chr3:129152105 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.77T>G (p.Leu26Arg) single nucleotide variant not provided [RCV003682046] Chr3:129439757 [GRCh38]
Chr3:129158600 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1647+11C>T single nucleotide variant not provided [RCV003675532] Chr3:129432492 [GRCh38]
Chr3:129151335 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.232G>A (p.Ala78Thr) single nucleotide variant not provided [RCV003563393] Chr3:129437823 [GRCh38]
Chr3:129156666 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.886T>C (p.Cys296Arg) single nucleotide variant not provided [RCV003819526] Chr3:129436758 [GRCh38]
Chr3:129155601 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1323C>T (p.Leu441=) single nucleotide variant not provided [RCV003567576] Chr3:129433920 [GRCh38]
Chr3:129152763 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.68G>A (p.Ser23Asn) single nucleotide variant not provided [RCV003728265] Chr3:129439766 [GRCh38]
Chr3:129158609 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.681G>A (p.Lys227=) single nucleotide variant not provided [RCV003542813] Chr3:129436963 [GRCh38]
Chr3:129155806 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1184-8C>G single nucleotide variant not provided [RCV003680042] Chr3:129434144 [GRCh38]
Chr3:129152987 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1259-6_1259-3del microsatellite not provided [RCV003675965] Chr3:129433987..129433990 [GRCh38]
Chr3:129152830..129152833 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1091T>G (p.Val364Gly) single nucleotide variant not provided [RCV003551912] Chr3:129436553 [GRCh38]
Chr3:129155396 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.262T>C (p.Cys88Arg) single nucleotide variant not provided [RCV003709495] Chr3:129437793 [GRCh38]
Chr3:129156636 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1393+20C>A single nucleotide variant not provided [RCV003567958] Chr3:129433830 [GRCh38]
Chr3:129152673 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1679A>G (p.Tyr560Cys) single nucleotide variant not provided [RCV003550612] Chr3:129431547 [GRCh38]
Chr3:129150390 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1447G>T (p.Glu483Ter) single nucleotide variant not provided [RCV003552263] Chr3:129433194 [GRCh38]
Chr3:129152037 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001276270.2(MBD4):c.1033_1035del (p.Asn345del) deletion not provided [RCV003727437] Chr3:129436609..129436611 [GRCh38]
Chr3:129155452..129155454 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1306C>T (p.Arg436Trp) single nucleotide variant not provided [RCV003705786] Chr3:129433937 [GRCh38]
Chr3:129152780 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1183+5G>A single nucleotide variant not provided [RCV003568522] Chr3:129436456 [GRCh38]
Chr3:129155299 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1259-6G>C single nucleotide variant not provided [RCV003550816] Chr3:129433990 [GRCh38]
Chr3:129152833 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.78A>C (p.Leu26=) single nucleotide variant not provided [RCV003677773] Chr3:129439756 [GRCh38]
Chr3:129158599 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.697G>A (p.Gly233Arg) single nucleotide variant not provided [RCV003566610] Chr3:129436947 [GRCh38]
Chr3:129155790 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.104+5G>A single nucleotide variant not provided [RCV003733584] Chr3:129439725 [GRCh38]
Chr3:129158568 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.336-1G>A single nucleotide variant not provided [RCV003993341] Chr3:129437309 [GRCh38]
Chr3:129156152 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.220T>C (p.Phe74Leu) single nucleotide variant Inborn genetic diseases [RCV004416850] Chr3:129437835 [GRCh38]
Chr3:129156678 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1647+60C>T single nucleotide variant MBD4-related disorder [RCV003963865] Chr3:129432443 [GRCh38]
Chr3:129151286 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1456A>C (p.Arg486=) single nucleotide variant MBD4-related disorder [RCV003963934] Chr3:129433185 [GRCh38]
Chr3:129152028 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.23G>T (p.Ser8Ile) single nucleotide variant Inborn genetic diseases [RCV004416851] Chr3:129439811 [GRCh38]
Chr3:129158654 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1085T>G (p.Val362Gly) single nucleotide variant Inborn genetic diseases [RCV004416847] Chr3:129436559 [GRCh38]
Chr3:129155402 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.1469G>A (p.Trp490Ter) single nucleotide variant MBD4-related disorder [RCV003896710] Chr3:129433172 [GRCh38]
Chr3:129152015 [GRCh37]
Chr3:3q21.3
uncertain significance
NC_000003.11:g.(?_129150344)_(129158676_?)del deletion not provided [RCV004582278] Chr3:129150344..129158676 [GRCh37]
Chr3:3q21.3
pathogenic
NM_001276270.2(MBD4):c.770T>C (p.Phe257Ser) single nucleotide variant Inborn genetic diseases [RCV004636605] Chr3:129436874 [GRCh38]
Chr3:129155717 [GRCh37]
Chr3:3q21.3
likely benign
NM_001276270.2(MBD4):c.1568A>C (p.Lys523Thr) single nucleotide variant Inborn genetic diseases [RCV004636604] Chr3:129432582 [GRCh38]
Chr3:129151425 [GRCh37]
Chr3:3q21.3
uncertain significance
NC_000003.12:g.129439794G>A single nucleotide variant not provided [RCV004769891] Chr3:129439794 [GRCh38]
Chr3:129158637 [GRCh37]
Chr3:3q21.3
uncertain significance
NM_001276270.2(MBD4):c.620T>C (p.Phe207Ser) single nucleotide variant Inborn genetic diseases [RCV003379398] Chr3:129437024 [GRCh38]
Chr3:129155867 [GRCh37]
Chr3:3q21.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1493
Count of miRNA genes:636
Interacting mature miRNAs:713
Transcripts:ENST00000249910, ENST00000393278, ENST00000429544, ENST00000503197, ENST00000505883, ENST00000507208, ENST00000509587, ENST00000509828, ENST00000511009, ENST00000515266
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407158551GWAS807527_HBMI-adjusted waist-hip ratio QTL GWAS807527 (human)3e-08BMI-adjusted waist-hip ratio3129439192129439193Human
407146652GWAS795628_Hanti-topoisomerase-I-antibody-positive systemic scleroderma QTL GWAS795628 (human)0.000003anti-topoisomerase-I-antibody-positive systemic scleroderma3129431542129431543Human
407390273GWAS1039249_HBMI-adjusted waist-hip ratio QTL GWAS1039249 (human)2e-26BMI-adjusted waist-hip ratio3129433301129433302Human
407402660GWAS1051636_HBMI-adjusted waist-hip ratio QTL GWAS1051636 (human)1e-26BMI-adjusted waist-hip ratio3129433301129433302Human

Markers in Region
RH93317  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373129,150,188 - 129,150,311UniSTSGRCh37
Build 363130,632,878 - 130,633,001RGDNCBI36
Celera3127,577,024 - 127,577,147RGD
Cytogenetic Map3q21.3UniSTS
HuRef3126,533,666 - 126,533,789UniSTS
GeneMap99-GB4 RH Map3459.05UniSTS
RH78192  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373129,150,400 - 129,150,532UniSTSGRCh37
Build 363130,633,090 - 130,633,222RGDNCBI36
Celera3127,577,236 - 127,577,368RGD
Cytogenetic Map3q21.3UniSTS
HuRef3126,533,878 - 126,534,010UniSTS
GeneMap99-GB4 RH Map3458.7UniSTS
STS-AA010492  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373129,150,252 - 129,150,385UniSTSGRCh37
Build 363130,632,942 - 130,633,075RGDNCBI36
Celera3127,577,088 - 127,577,221RGD
Cytogenetic Map3q21.3UniSTS
HuRef3126,533,730 - 126,533,863UniSTS
GeneMap99-GB4 RH Map3459.05UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001276270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001276271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001276272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001276273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF072250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF114784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF494057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF532602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH008084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL449212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM180876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP370521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BY997577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD678412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR450305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB568237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000249910   ⟹   ENSP00000249910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3129,430,950 - 129,440,009 (-)Ensembl
Ensembl Acc Id: ENST00000393278   ⟹   ENSP00000376959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3129,430,952 - 129,440,179 (-)Ensembl
Ensembl Acc Id: ENST00000429544   ⟹   ENSP00000394080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3129,430,947 - 129,439,948 (-)Ensembl
Ensembl Acc Id: ENST00000503197   ⟹   ENSP00000424873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3129,431,266 - 129,440,007 (-)Ensembl
Ensembl Acc Id: ENST00000505883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3129,437,047 - 129,439,937 (-)Ensembl
Ensembl Acc Id: ENST00000507208   ⟹   ENSP00000422327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3129,432,176 - 129,440,035 (-)Ensembl
Ensembl Acc Id: ENST00000509587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3129,433,859 - 129,439,940 (-)Ensembl
Ensembl Acc Id: ENST00000509828   ⟹   ENSP00000422690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3129,431,455 - 129,439,927 (-)Ensembl
Ensembl Acc Id: ENST00000511009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3129,432,533 - 129,433,553 (-)Ensembl
Ensembl Acc Id: ENST00000515266
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3129,432,577 - 129,434,103 (-)Ensembl
RefSeq Acc Id: NM_001276270   ⟹   NP_001263199
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,430,947 - 129,439,948 (-)NCBI
GRCh373129,149,787 - 129,159,022 (-)NCBI
HuRef3126,533,265 - 126,542,500 (-)NCBI
CHM1_13129,112,922 - 129,122,157 (-)NCBI
T2T-CHM13v2.03132,175,773 - 132,184,774 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001276271   ⟹   NP_001263200
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,432,176 - 129,439,948 (-)NCBI
GRCh373129,149,787 - 129,159,022 (-)NCBI
HuRef3126,533,265 - 126,542,500 (-)NCBI
CHM1_13129,114,154 - 129,122,157 (-)NCBI
T2T-CHM13v2.03132,177,002 - 132,184,774 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001276272   ⟹   NP_001263201
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,430,947 - 129,439,948 (-)NCBI
GRCh373129,149,787 - 129,159,022 (-)NCBI
HuRef3126,533,265 - 126,542,500 (-)NCBI
CHM1_13129,112,922 - 129,122,157 (-)NCBI
T2T-CHM13v2.03132,175,773 - 132,184,774 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001276273   ⟹   NP_001263202
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,430,947 - 129,439,948 (-)NCBI
GRCh373129,149,787 - 129,159,022 (-)NCBI
HuRef3126,533,265 - 126,542,500 (-)NCBI
CHM1_13129,112,922 - 129,122,157 (-)NCBI
T2T-CHM13v2.03132,175,773 - 132,184,774 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003925   ⟹   NP_003916
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,430,947 - 129,439,948 (-)NCBI
GRCh373129,149,787 - 129,159,022 (-)NCBI
Build 363130,632,483 - 130,641,542 (-)NCBI Archive
HuRef3126,533,265 - 126,542,500 (-)NCBI
CHM1_13129,112,922 - 129,122,157 (-)NCBI
T2T-CHM13v2.03132,175,773 - 132,184,774 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453810   ⟹   XP_024309578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,432,176 - 129,439,948 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047449153   ⟹   XP_047305109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,430,947 - 129,439,948 (-)NCBI
RefSeq Acc Id: XM_054348284   ⟹   XP_054204259
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03132,177,002 - 132,184,774 (-)NCBI
RefSeq Acc Id: XM_054348285   ⟹   XP_054204260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03132,175,773 - 132,184,774 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001263199 (Get FASTA)   NCBI Sequence Viewer  
  NP_001263200 (Get FASTA)   NCBI Sequence Viewer  
  NP_001263201 (Get FASTA)   NCBI Sequence Viewer  
  NP_001263202 (Get FASTA)   NCBI Sequence Viewer  
  NP_003916 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309578 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305109 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204259 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204260 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC68879 (Get FASTA)   NCBI Sequence Viewer  
  AAD22195 (Get FASTA)   NCBI Sequence Viewer  
  AAD50374 (Get FASTA)   NCBI Sequence Viewer  
  AAH11752 (Get FASTA)   NCBI Sequence Viewer  
  AAM00008 (Get FASTA)   NCBI Sequence Viewer  
  AAP97338 (Get FASTA)   NCBI Sequence Viewer  
  BAG64144 (Get FASTA)   NCBI Sequence Viewer  
  CAG29301 (Get FASTA)   NCBI Sequence Viewer  
  CAJ55826 (Get FASTA)   NCBI Sequence Viewer  
  EAW79251 (Get FASTA)   NCBI Sequence Viewer  
  EAW79252 (Get FASTA)   NCBI Sequence Viewer  
  EAW79253 (Get FASTA)   NCBI Sequence Viewer  
  EAW79254 (Get FASTA)   NCBI Sequence Viewer  
  EAW79255 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000249910
  ENSP00000249910.1
  ENSP00000376959
  ENSP00000376959.2
  ENSP00000394080
  ENSP00000394080.2
  ENSP00000422327
  ENSP00000422327.1
  ENSP00000422690.1
  ENSP00000424873
  ENSP00000424873.1
GenBank Protein O95243 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_003916   ⟸   NM_003925
- Peptide Label: isoform 1
- UniProtKB: Q7Z4T3 (UniProtKB/Swiss-Prot),   Q2MD36 (UniProtKB/Swiss-Prot),   E9PEE4 (UniProtKB/Swiss-Prot),   D3DNC4 (UniProtKB/Swiss-Prot),   D3DNC3 (UniProtKB/Swiss-Prot),   B4DZN2 (UniProtKB/Swiss-Prot),   Q96F09 (UniProtKB/Swiss-Prot),   O95243 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001263202   ⟸   NM_001276273
- Peptide Label: isoform 5
- UniProtKB: O95243 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001263199   ⟸   NM_001276270
- Peptide Label: isoform 2
- UniProtKB: O95243 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001263201   ⟸   NM_001276272
- Peptide Label: isoform 4
- UniProtKB: O95243 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001263200   ⟸   NM_001276271
- Peptide Label: isoform 3
- UniProtKB: O95243 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024309578   ⟸   XM_024453810
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000424873   ⟸   ENST00000503197
Ensembl Acc Id: ENSP00000422327   ⟸   ENST00000507208
Ensembl Acc Id: ENSP00000394080   ⟸   ENST00000429544
Ensembl Acc Id: ENSP00000422690   ⟸   ENST00000509828
Ensembl Acc Id: ENSP00000249910   ⟸   ENST00000249910
Ensembl Acc Id: ENSP00000376959   ⟸   ENST00000393278
RefSeq Acc Id: XP_047305109   ⟸   XM_047449153
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054204260   ⟸   XM_054348285
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054204259   ⟸   XM_054348284
- Peptide Label: isoform X1
Protein Domains
MBD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95243-F1-model_v2 AlphaFold O95243 1-580 view protein structure

Promoters
RGD ID:6865640
Promoter ID:EPDNEW_H5985
Type:initiation region
Name:MBD4_1
Description:methyl-CpG binding domain 4, DNA glycosylase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5987  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,439,940 - 129,440,000EPDNEW
RGD ID:6865644
Promoter ID:EPDNEW_H5987
Type:initiation region
Name:MBD4_2
Description:methyl-CpG binding domain 4, DNA glycosylase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5985  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,440,489 - 129,440,549EPDNEW
RGD ID:6801304
Promoter ID:HG_KWN:46175
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:ENST00000393278,   NM_003925,   NM_052989,   NM_052990,   UC003EMI.1,   UC003EMJ.1,   UC003EML.1,   UC003EMN.1,   UC003EMP.1,   UC003EMQ.1,   UC010HTC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363130,641,356 - 130,642,052 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6919 AgrOrtholog
COSMIC MBD4 COSMIC
Ensembl Genes ENSG00000129071 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000249910 ENTREZGENE
  ENST00000249910.5 UniProtKB/Swiss-Prot
  ENST00000393278 ENTREZGENE
  ENST00000393278.6 UniProtKB/Swiss-Prot
  ENST00000429544 ENTREZGENE
  ENST00000429544.7 UniProtKB/Swiss-Prot
  ENST00000503197 ENTREZGENE
  ENST00000503197.5 UniProtKB/Swiss-Prot
  ENST00000507208 ENTREZGENE
  ENST00000507208.1 UniProtKB/Swiss-Prot
  ENST00000509828.1 UniProtKB/TrEMBL
GTEx ENSG00000129071 GTEx
HGNC ID HGNC:6919 ENTREZGENE
Human Proteome Map MBD4 Human Proteome Map
InterPro DNA-bd_dom_sf UniProtKB/Swiss-Prot
  DNA_glycosylase UniProtKB/Swiss-Prot
  MBD4 UniProtKB/Swiss-Prot
  MeCP2/MBD4 UniProtKB/Swiss-Prot
  Methyl_CpG_DNA-bd UniProtKB/Swiss-Prot
KEGG Report hsa:8930 UniProtKB/Swiss-Prot
NCBI Gene 8930 ENTREZGENE
OMIM 603574 OMIM
PANTHER METHYL-CPG-BINDING DOMAIN PROTEIN 4 UniProtKB/Swiss-Prot
  PTHR15074 UniProtKB/Swiss-Prot
Pfam MBD UniProtKB/Swiss-Prot
PharmGKB MBD4 RGD, PharmGKB
PIRSF Methyl_CpG_bd_MBD4 UniProtKB/Swiss-Prot
PROSITE MBD UniProtKB/Swiss-Prot
SMART MBD UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48150 UniProtKB/Swiss-Prot
  SSF54171 UniProtKB/Swiss-Prot
UniProt B4DZN2 ENTREZGENE
  D3DNC3 ENTREZGENE
  D3DNC4 ENTREZGENE
  D6RBI7_HUMAN UniProtKB/TrEMBL
  E9PEE4 ENTREZGENE
  MBD4_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q2MD36 ENTREZGENE
  Q7Z4T3 ENTREZGENE
  Q96F09 ENTREZGENE
UniProt Secondary B4DZN2 UniProtKB/Swiss-Prot
  D3DNC3 UniProtKB/Swiss-Prot
  D3DNC4 UniProtKB/Swiss-Prot
  E9PEE4 UniProtKB/Swiss-Prot
  Q2MD36 UniProtKB/Swiss-Prot
  Q7Z4T3 UniProtKB/Swiss-Prot
  Q96F09 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-21 MBD4  methyl-CpG binding domain 4, DNA glycosylase  MBD4  methyl-CpG binding domain 4 DNA glycosylase  Symbol and/or name change 5135510 APPROVED
2015-06-30 MBD4  methyl-CpG binding domain 4 DNA glycosylase  MBD4  methyl-CpG binding domain protein 4  Symbol and/or name change 5135510 APPROVED