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

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Gene: MBD4 (methyl-CpG binding domain 4, DNA glycosylase) Homo sapiens

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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

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	3	129,430,947 - 129,439,948 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	129,430,947 - 129,440,179 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	129,149,790 - 129,158,791 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	130,632,483 - 130,641,542 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	3	130,632,490 - 130,641,550	NCBI
Celera	3	127,576,629 - 127,585,688 (-)	NCBI		Celera
Cytogenetic Map	3	q21.3	NCBI
HuRef	3	126,533,265 - 126,542,500 (-)	NCBI		HuRef
CHM1_1	3	129,112,922 - 129,122,157 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	3	132,175,773 - 132,184,774 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

alkaptonuria (IAGP)

autistic disorder (EXP)

colorectal carcinoma (IAGP)

Colorectal Neoplasms (IAGP,IEP)

cranioectodermal dysplasia 1 (IAGP)

esophagus squamous cell carcinoma (IAGP)

genetic disease (IAGP)

Hereditary Neoplastic Syndromes (IAGP)

immunodeficiency 21 (IAGP)

Intestinal Neoplasms (ISO)

lung cancer (IAGP)

Primary Lymphedema with Myelodysplasia (IAGP)

rheumatoid arthritis (IAGP)

Tumor Predisposition Syndrome 2 (IAGP)

uveal melanoma (EXP,IAGP)

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

Biological Process

depyrimidination (TAS)

DNA damage response (ISO)

DNA repair (IEA,TAS)

intrinsic apoptotic signaling pathway in response to DNA damage (ISO)

mitotic G2 DNA damage checkpoint signaling (ISO)

response to estradiol (IEA,ISO)

response to radiation (ISO)

Cellular Component

chromatin (ISO)

cytoplasm (ISO)

nuclear speck (IDA)

nucleoplasm (TAS)

nucleus (IBA,IEA,TAS)

Molecular Function

DNA binding (IBA,IEA)

DNA endonuclease activity (TAS)

DNA N-glycosylase activity (TAS)

hydrolase activity (IEA)

protein binding (IPI)

pyrimidine-specific mismatch base pair DNA N-glycosylase activity (IDA,IEA)

satellite DNA binding (TAS)

Molecular Pathway Annotations Click to see Annotation Detail View

altered DNA modification pathway (IMP)

base excision repair pathway (IEA)

DNA modification pathway (TAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Acute myeloid leukemia (IAGP)

Adenomatous colonic polyposis (IAGP)

Adult onset (IAGP)

Autosomal dominant inheritance (IAGP)

Colon cancer (IAGP)

Ductal carcinoma in situ (IAGP)

Interphalangeal joint erosions (IAGP)

Joint stiffness (IAGP)

Joint swelling (IAGP)

Juvenile onset (IAGP)

Juvenile type ovarian granulosa cell tumor (IAGP)

Meningioma (IAGP)

Middle age onset (IAGP)

Rheumatoid factor positive (IAGP)

Schwannoma (IAGP)

Soft tissue swelling of interphalangeal joints (IAGP)

Uveal melanoma (IAGP)

Young adult onset (IAGP)

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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	3	129,430,947 - 129,439,948 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	129,430,947 - 129,440,179 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	129,149,790 - 129,158,791 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	130,632,483 - 130,641,542 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	3	130,632,490 - 130,641,550	NCBI
Celera	3	127,576,629 - 127,585,688 (-)	NCBI		Celera
Cytogenetic Map	3	q21.3	NCBI
HuRef	3	126,533,265 - 126,542,500 (-)	NCBI		HuRef
CHM1_1	3	129,112,922 - 129,122,157 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	3	132,175,773 - 132,184,774 (-)	NCBI		T2T-CHM13v2.0

Mbd4
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	6	115,817,658 - 115,830,361 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	6	115,817,658 - 115,830,332 (-)	Ensembl		GRCm39 Ensembl
GRCm38	6	115,840,697 - 115,853,400 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	6	115,840,697 - 115,853,371 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	6	115,790,715 - 115,803,359 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	6	115,808,047 - 115,819,340 (-)	NCBI		MGSCv36	mm8
Celera	6	117,677,344 - 117,690,709 (-)	NCBI		Celera
Cytogenetic Map	6	E3	NCBI
cM Map	6	53.72	NCBI

Mbd4
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	4	150,565,646 - 150,577,433 (-)	NCBI		GRCr8
mRatBN7.2	4	148,893,049 - 148,904,833 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	4	148,894,280 - 148,904,982 (-)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	4	147,744,673 - 147,756,462 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	4	147,746,186 - 147,756,294 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	4	211,028,384 - 211,040,158 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	4	151,972,272 - 151,981,633 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	4	137,783,059 - 137,794,850 (-)	NCBI		Celera
Cytogenetic Map	4	q42	NCBI

Mbd4
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955429	17,858,937 - 17,869,262 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955429	17,858,656 - 17,868,111 (+)	NCBI	ChiLan1.0	ChiLan1.0

MBD4
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	2	127,363,949 - 127,372,866 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	3	127,368,337 - 127,377,271 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	3	126,489,125 - 126,498,034 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	3	133,842,156 - 133,851,450 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	3	133,839,643 - 133,851,450 (-)	Ensembl	panpan1.1		panPan2

MBD4
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	20	5,716,162 - 5,725,068 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	20	5,716,239 - 5,724,881 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	20	5,753,617 - 5,762,527 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	20	5,745,974 - 5,754,885 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	20	5,745,978 - 5,754,919 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	20	5,461,788 - 5,470,699 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	20	5,814,748 - 5,823,669 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	20	5,790,467 - 5,799,355 (+)	NCBI		UU_Cfam_GSD_1.0

Mbd4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404942	17,929,197 - 17,952,854 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936602	956,784 - 967,884 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936602	968,159 - 980,452 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MBD4
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	13	68,816,679 - 68,828,580 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	13	68,816,677 - 68,828,559 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

MBD4
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	22	51,616,840 - 51,626,232 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	22	51,616,803 - 51,626,224 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666041	114,838,792 - 114,848,231 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Mbd4
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624872	451,118 - 462,509 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624872	453,303 - 462,661 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

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.620T>C (p.Phe207Ser)	single nucleotide variant	Inborn genetic diseases [RCV003379398]	Chr3:129437024 [GRCh38] Chr3:129155867 [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

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.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
407158551	GWAS807527_H	BMI-adjusted waist-hip ratio QTL GWAS807527 (human)		3e-08	BMI-adjusted waist-hip ratio		3	129439192	129439193	Human
407146652	GWAS795628_H	anti-topoisomerase-I-antibody-positive systemic scleroderma QTL GWAS795628 (human)		0.000003	anti-topoisomerase-I-antibody-positive systemic scleroderma		3	129431542	129431543	Human
407390273	GWAS1039249_H	BMI-adjusted waist-hip ratio QTL GWAS1039249 (human)		2e-26	BMI-adjusted waist-hip ratio		3	129433301	129433302	Human
407402660	GWAS1051636_H	BMI-adjusted waist-hip ratio QTL GWAS1051636 (human)		1e-26	BMI-adjusted waist-hip ratio		3	129433301	129433302	Human

Markers in Region

RH93317

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	129,150,188 - 129,150,311	UniSTS	GRCh37
Build 36	3	130,632,878 - 130,633,001	RGD	NCBI36
Celera	3	127,577,024 - 127,577,147	RGD
Cytogenetic Map	3	q21.3	UniSTS
HuRef	3	126,533,666 - 126,533,789	UniSTS
GeneMap99-GB4 RH Map	3	459.05	UniSTS

RH78192

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	129,150,400 - 129,150,532	UniSTS	GRCh37
Build 36	3	130,633,090 - 130,633,222	RGD	NCBI36
Celera	3	127,577,236 - 127,577,368	RGD
Cytogenetic Map	3	q21.3	UniSTS
HuRef	3	126,533,878 - 126,534,010	UniSTS
GeneMap99-GB4 RH Map	3	458.7	UniSTS

STS-AA010492

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	129,150,252 - 129,150,385	UniSTS	GRCh37
Build 36	3	130,632,942 - 130,633,075	RGD	NCBI36
Celera	3	127,577,088 - 127,577,221	RGD
Cytogenetic Map	3	q21.3	UniSTS
HuRef	3	126,533,730 - 126,533,863	UniSTS
GeneMap99-GB4 RH Map	3	459.05	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

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 Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	129,430,950 - 129,440,009 (-)	Ensembl

Ensembl Acc Id:

ENST00000393278 ⟹ ENSP00000376959

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	129,430,952 - 129,440,179 (-)	Ensembl

Ensembl Acc Id:

ENST00000429544 ⟹ ENSP00000394080

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	129,430,947 - 129,439,948 (-)	Ensembl

Ensembl Acc Id:

ENST00000503197 ⟹ ENSP00000424873

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	129,431,266 - 129,440,007 (-)	Ensembl

Ensembl Acc Id:

ENST00000505883

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	129,437,047 - 129,439,937 (-)	Ensembl

Ensembl Acc Id:

ENST00000507208 ⟹ ENSP00000422327

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	129,432,176 - 129,440,035 (-)	Ensembl

Ensembl Acc Id:

ENST00000509587

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	129,433,859 - 129,439,940 (-)	Ensembl

Ensembl Acc Id:

ENST00000509828 ⟹ ENSP00000422690

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	129,431,455 - 129,439,927 (-)	Ensembl

Ensembl Acc Id:

ENST00000511009

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	129,432,533 - 129,433,553 (-)	Ensembl

Ensembl Acc Id:

ENST00000515266

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	129,432,577 - 129,434,103 (-)	Ensembl

RefSeq Acc Id:

NM_001276270 ⟹ NP_001263199

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	129,430,947 - 129,439,948 (-)	NCBI
GRCh37	3	129,149,787 - 129,159,022 (-)	NCBI
HuRef	3	126,533,265 - 126,542,500 (-)	NCBI
CHM1_1	3	129,112,922 - 129,122,157 (-)	NCBI
T2T-CHM13v2.0	3	132,175,773 - 132,184,774 (-)	NCBI

Sequence:

show sequence

ATTCAGACCTCGGTTGCAGCCCGGTGCCGTGAGCTGAAGAGGTTTCACATCTTACTCCGCCCCA
CACCCTGGGCGTTGCGGCGCTGGGCTCGTTGCTGCAGCCGGACCCTGCTCGATGGGCACGACTG
GGCTGGAGAGTCTGAGTCTGGGGGACCGCGGAGCTGCCCCCACCGTCACCTCTAGTGAGCGCCT
AGTCCCAGACCCGCCGAATGACCTCCGCAAAGAAGATGTTGCTATGGAATTGGAAAGAGTGGGA
GAAGATGAGGAACAAATGATGATAAAAAGAAGCAGTGAATGTAATCCCTTGCTACAAGAACCCA
TCGCTTCTGCTCAGTTTGGTGCTACTGCAGGAACAGAATGCCGTAAGTCTGTCCCATGTGGATG
GGAAAGAGTTGTGAAGCAAAGGTTATTTGGGAAGACAGCAGGAAGATTTGATGTGTACTTTATC
AGCCCACAAGGACTGAAGTTCAGATCCAAAAGTTCACTTGCTAATTATCTTCACAAAAATGGAG
AGACTTCTCTTAAGCCAGAAGATTTTGATTTTACTGTACTTTCTAAAAGGGGTATCAAGTCAAG
ATATAAAGACTGCAGCATGGCAGCCCTGACATCCCATCTACAAAACCAAAGTAACAATTCAAAC
TGGAACCTCAGGACCCGAAGCAAGTGCAAAAAGGATGTGTTTATGCCGCCAAGTAGTAGTTCAG
AGTTGCAGGAGAGCAGAGGACTCTCTAACTTTACTTCCACTCATTTGCTTTTGAAAGAAGATGA
GGGTGTTGATGATGTTAACTTCAGAAAGGTTAGAAAGCCCAAAGGAAAGGTGACTATTTTGAAA
GGAATCCCAATTAAGAAAACTAAAAAAGGATGTAGGAAGAGCTGTTCAGGTTTTGTTCAAAGTG
ATAGCAAAAGAGAATCTGTGTGTAATAAAGCAGATGCTGAAAGTGAACCTGTTGCACAAAAAAG
TCAGCTTGATAGAACTGTCTGCATTTCTGATGCTGGAGCATGTGGTGAGACCCTCAGTGTGACC
AGTGAAGAAAACAGCCTTGTAAAAAAAAAAGAAAGATCATTGAGTTCAGGATCAAATTTTTGTT
CTGAACAAAAAACTTCTGGCATCATAAACAAATTTTGTTCAGCCAAAGACTCAGAACACAACGA
GAAGTATGAGGATACCTTTTTAGAATCTGAAGAAATCGGAACAAAAGTAGAAGTTGTGGAAAGG
AAAGAACATTTGCATACTGACATTTTAAAACGTGGCTCTGAAATGGACAACAACTGCTCACCAA
CCAGGAAAGACTTCACTGAAGATACCATCCCACGAACACAGATAGAAAGAAGGAAAACAAGCCT
GTATTTTTCCAGCAAATATAACAAAGAAGCTCTTAGCCCCCCACGACGTAAAGCCTTTAAGAAA
TGGACACCTCCTCGGTCACCTTTTAATCTCGTTCAAGAAACACTTTTTCATGATCCATGGAAGC
TTCTCATCGCTACTATATTTCTCAATCGGACCTCAGGCAAAATGGCAATACCTGTGCTTTGGAA
GTTTCTGGAGAAGTATCCTTCAGCTGAGGTAGCAAGAACCGCAGACTGGAGAGATGTGTCAGAA
CTTCTTAAACCTCTTGGTCTCTACGATCTTCGGGCAAAAACCATTGTCAAGTTCTCAGATGAAT
ACCTGACAAAGCAGTGGAAGTATCCAATTGAGCTTCATGGGATTGGTAAATATGGCAACGACTC
TTACCGAATTTTTTGTGTCAATGAGTGGAAGCAGGTGCACCCTGAAGACCACAAATTAAATAAA
TATCATGACTGGCTTTGGGAAAATCATGAAAAATTAAGTCTATCTTAAACTCTGCAGCTTTCAA
GCTCATCTGTTATGCATAGCTTTGCACTTCAAAAAAGCTTAATTAAGTACAACCAACCACCTTT
CCAGCCATAGAGATTTTAATTAGCCCAACTAGAAGCCTAGTGTGTGTGCTTTCTTAATGTGTGT
GCCAATGGTGGATCTTTGCTACTGAATGTGTTTGAACATGTTTTGAGATTTTTTTAAAATAAAT
TATTATTTGACAACAATCCAAAAAAAATACGGCTTTTCCAATGATGAAATATAATCAGAAGATG
AAAAATAGTTCTAAACTATCAATAATACAAAGCAAATTTCTATCAGCCTTGCTAAAGCTAGGGG
CCCACTAAATATTTTTATCGGCTAGGCGTGGTGGTGCATGCCTGTAATCTCGGAAGGCTGAGGC
AGGAGGATCATTTGAGCTCATGAGGGCCCAGGAGGTCAAGGCTTCAGTGAGCCATGATCATGCC
ACTGCACTCCAGTCTGGATGACAGAGAGAGACCCTGTCTCAAAAAATATATATTTAAAAAATAA
AAATAAAAGCTGACCCCAAAGACAAA

hide sequence

RefSeq Acc Id:

NM_001276271 ⟹ NP_001263200

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	129,432,176 - 129,439,948 (-)	NCBI
GRCh37	3	129,149,787 - 129,159,022 (-)	NCBI
HuRef	3	126,533,265 - 126,542,500 (-)	NCBI
CHM1_1	3	129,114,154 - 129,122,157 (-)	NCBI
T2T-CHM13v2.0	3	132,177,002 - 132,184,774 (-)	NCBI

Sequence:

show sequence

ATTCAGACCTCGGTTGCAGCCCGGTGCCGTGAGCTGAAGAGGTTTCACATCTTACTCCGCCCCA
CACCCTGGGCGTTGCGGCGCTGGGCTCGTTGCTGCAGCCGGACCCTGCTCGATGGGCACGACTG
GGCTGGAGAGTCTGAGTCTGGGGGACCGCGGAGCTGCCCCCACCGTCACCTCTAGTGAGCGCCT
AGTCCCAGACCCGCCGAATGACCTCCGCAAAGAAGATGTTGCTATGGAATTGGAAAGAGTGGGA
GAAGATGAGGAACAAATGATGATAAAAAGAAGCAGTGAATGTAATCCCTTGCTACAAGAACCCA
TCGCTTCTGCTCAGTTTGGTGCTACTGCAGGAACAGAATGCCGTAAGTCTGTCCCATGTGGATG
GGAAAGAGTTGTGAAGCAAAGGTTATTTGGGAAGACAGCAGGAAGATTTGATGTGTACTTTATC
AGCCCACAAGGACTGAAGTTCAGATCCAAAAGTTCACTTGCTAATTATCTTCACAAAAATGGAG
AGACTTCTCTTAAGCCAGAAGATTTTGATTTTACTGTACTTTCTAAAAGGGGTATCAAGTCAAG
ATATAAAGACTGCAGCATGGCAGCCCTGACATCCCATCTACAAAACCAAAGTAACAATTCAAAC
TGGAACCTCAGGACCCGAAGCAAGTGCAAAAAGGATGTGTTTATGCCGCCAAGTAGTAGTTCAG
AGTTGCAGGAGAGCAGAGGACTCTCTAACTTTACTTCCACTCATTTGCTTTTGAAAGAAGATGA
GGGTGTTGATGATGTTAACTTCAGAAAGGTTAGAAAGCCCAAAGGAAAGGTGACTATTTTGAAA
GGAATCCCAATTAAGAAAACTAAAAAAGGATGTAGGAAGAGCTGTTCAGGTTTTGTTCAAAGTG
ATAGCAAAAGAGAATCTGTGTGTAATAAAGCAGATGCTGAAAGTGAACCTGTTGCACAAAAAAG
TCAGCTTGATAGAACTGTCTGCATTTCTGATGCTGGAGCATGTGGTGAGACCCTCAGTGTGACC
AGTGAAGAAAACAGCCTTGTAAAAAAAAAAGAAAGATCATTGAGTTCAGGATCAAATTTTTGTT
CTGAACAAAAAACTTCTGGCATCATAAACAAATTTTGTTCAGCCAAAGACTCAGAACACAACGA
GAAGTATGAGGATACCTTTTTAGAATCTGAAGAAATCGGAACAAAAGTAGAAGTTGTGGAAAGG
AAAGAACATTTGCATACTGACATTTTAAAACGTGGCTCTGAAATGGACAACAACTGCTCACCAA
CCAGGAAAGACTTCACTGGTGAGAAAATATTTCAAGAAGATACCATCCCACGAACACAGATAGA
AAGAAGGAAAACAAGCCTGTATTTTTCCAGCAAATATAACAAAGAAGCTCTTAGCCCCCCACGA
CGTAAAGCCTTTAAGAAATGGACACCTCCTCGGTCACCTTTTAATCTCGTTCAAGAAACACTTT
TTCATGATCCATGGAAGCTTCTCATCGCTACTATATTTCTCAATCGGACCTCAGGCAAAATGGC
AATACCTGTGCTTTGGAAGTTTCTGGAGAAGTATCCTTCAGCTGAGGTAGCAAGAACCGCAGAC
TGGAGAGATGTGTCAGAACTTCTTAAACCTCTTGGTCTCTACGATCTTCGGGCAAAAACCATTG
TCAAGTTCTCAGATGAATACCTGACAAAGCAGTGGAAGTATCCAATTGAGCTTCATGGGATTGG
TAAATATGGCAACGACTCTTACCGAATTTTTTGTGTCAATGAGTGGAAGCAGGTGAGGCTCACT
CCCATCCATAATTCAGCACATTTGGTCTCTGAGGCAAAATAAGTCCACCATTATGGTTAAGACT
ATTTATTGGATACAAATGCTATTACAGTCACAAACAATTGTGTTCCTGGCTGCGGGGAAGCGGG
TGGCATGTGGGTTTTGGGGTTTTTGATCAGTAGGCGCTCCCAAGTCCACAAAGACCAGTCCAGC
GGCGTGGCCTCTGACTCATCTCCAGTGGTTTGTCACCTCTGGCCCTGTTCCTGTCATTCCCTAT
TTGTGTGCTATCTCTAAGCCTGACGTGGTTTTCCTCCTGTCAAAAGTACACCACTACAG

hide sequence

RefSeq Acc Id:

NM_001276272 ⟹ NP_001263201

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	129,430,947 - 129,439,948 (-)	NCBI
GRCh37	3	129,149,787 - 129,159,022 (-)	NCBI
HuRef	3	126,533,265 - 126,542,500 (-)	NCBI
CHM1_1	3	129,112,922 - 129,122,157 (-)	NCBI
T2T-CHM13v2.0	3	132,175,773 - 132,184,774 (-)	NCBI

Sequence:

show sequence

ATTCAGACCTCGGTTGCAGCCCGGTGCCGTGAGCTGAAGAGGTTTCACATCTTACTCCGCCCCA
CACCCTGGGCGTTGCGGCGCTGGGCTCGTTGCTGCAGCCGGACCCTGCTCGATGGGCACGACTG
GGCTGGAGAGTCTGAGTCTGGGGGACCGCGGAGCTGCCCCCACCGTCACCTCTAGTGAGCGCCT
AGTCCCAGACCCGCCGAATGACCTCCGCAAAGAAGATGTTGCTATGGAATTGGAAAGAGTGGGA
GAAGATGAGGAACAAATGATGATAAAAAGAAGCAGTGAATGTAATCCCTTGCTACAAGAACCCA
TCGCTTCTGCTCAGTTTGGTGCTACTGCAGGAACAGAATGCCGTAAGTCTGTCCCATGTGGATG
GGAAAGAGTTGTGAAGCAAAGGTTATTTGGGAAGACAGCAGGAAGATTTGATGTGTACTTTATC
AGCCCACAAGGACTGAAGTTCAGATCCAAAAGTTCACTTGCTAATTATCTTCACAAAAATGGAG
AGACTTCTCTTAAGCCAGAAGATTTTGATTTTACTGTACTTTCTAAAAGGGGTATCAAGTCAAG
ATATAAAGACTGCAGCATGGCAGCCCTGACATCCCATCTACAAAACCAAAGTAACAATTCAAAC
TGGAACCTCAGGACCCGAAGCAAGTGCAAAAAGGATGTGTTTATGCCGCCAAGTAGTAGTTCAG
AGTTGCAGGAGAGCAGAGGACTCTCTAACTTTACTTCCACTCATTTGCTTTTGAAAGAAGATGA
GGGTGTTGATGATGTTAACTTCAGAAAGGTTAGAAAGCCCAAAGGAAAGGTGACTATTTTGAAA
GGAATCCCAATTAAGAAAACTAAAAAAGGATGTAGGAAGAGCTGTTCAGGTTTTGTTCAAAGTG
ATAGCAAAAGAGAATCTGTGTGTAATAAAGCAGATGCTGAAAGTGAACCTGTTGCACAAAAAAG
TCAGCTTGATAGAACTGTCTGCATTTCTGATGCTGGAGCATGTGGTGAGACCCTCAGTGTGACC
AGTGAAGAAAACAGCCTTGTAAAAAAAAAAGAAAGATCATTGAGTTCAGGATCAAATTTTTGTT
CTGAACAAAAAACTTCTGGCATCATAAACAAATTTTGTTCAGCCAAAGACTCAGAACACAACGA
GAAGTATGAGGATACCTTTTTAGAATCTGAAGAAATCGGAACAAAAGTAGAAGTTGTGGAAAGG
AAAGAACATTTGCATACTGACATTTTAAAACGTGGCTCTGAAATGGACAACAACTGCTCACCAA
CCAGGAAAGACTTCACTGGTGAGAAAATATTTCAAGAAGATACCATCCCACGAACACAGATAGA
AAGAAGGAAAACAAGCCTGTATTTTTCCAGCAAATATAACAAAGAAGCTCTTAGCCCCCCACGA
CGTAAAGCCTTTAAGAAATGGACACCTCCTCGGTCACCTTTTAATCTCGTTCAAGAAACACTTT
TTCATGATCCATGGAAGCTTCTCATCGCTACTATATTTCTCAATCGGACCTCAGGCAAAATGGC
AATACCTGTGCTTTGGAAGTTTCTGGAGAAGTATCCTTCAGCTGAGGTAGCAAGAACCGCAGAC
TGGAGAGATGTGTCAGAACTTCTTAAACCTCTTGGTCTCTACGATCTTCGGGCAAAAACCATTG
TCAAGTTCTCAGATGAATACCTGACAAAGCAGTGGAAGTATCCAATTGAGCTTCATGGGATTGG
TGCACCCTGAAGACCACAAATTAAATAAATATCATGACTGGCTTTGGGAAAATCATGAAAAATT
AAGTCTATCTTAAACTCTGCAGCTTTCAAGCTCATCTGTTATGCATAGCTTTGCACTTCAAAAA
AGCTTAATTAAGTACAACCAACCACCTTTCCAGCCATAGAGATTTTAATTAGCCCAACTAGAAG
CCTAGTGTGTGTGCTTTCTTAATGTGTGTGCCAATGGTGGATCTTTGCTACTGAATGTGTTTGA
ACATGTTTTGAGATTTTTTTAAAATAAATTATTATTTGACAACAATCCAAAAAAAATACGGCTT
TTCCAATGATGAAATATAATCAGAAGATGAAAAATAGTTCTAAACTATCAATAATACAAAGCAA
ATTTCTATCAGCCTTGCTAAAGCTAGGGGCCCACTAAATATTTTTATCGGCTAGGCGTGGTGGT
GCATGCCTGTAATCTCGGAAGGCTGAGGCAGGAGGATCATTTGAGCTCATGAGGGCCCAGGAGG
TCAAGGCTTCAGTGAGCCATGATCATGCCACTGCACTCCAGTCTGGATGACAGAGAGAGACCCT
GTCTCAAAAAATATATATTTAAAAAATAAAAATAAAAGCTGACCCCAAAGACAAA

hide sequence

RefSeq Acc Id:

NM_001276273 ⟹ NP_001263202

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	129,430,947 - 129,439,948 (-)	NCBI
GRCh37	3	129,149,787 - 129,159,022 (-)	NCBI
HuRef	3	126,533,265 - 126,542,500 (-)	NCBI
CHM1_1	3	129,112,922 - 129,122,157 (-)	NCBI
T2T-CHM13v2.0	3	132,175,773 - 132,184,774 (-)	NCBI

Sequence:

show sequence

ATTCAGACCTCGGTTGCAGCCCGGTGCCGTGAGCTGAAGAGGTTTCACATCTTACTCCGCCCCA
CACCCTGGGCGTTGCGGCGCTGGGCTCGTTGCTGCAGCCGGACCCTGCTCGATGGGCACGACTG
GGCTGGAGAGTCTGAGTCTGGGGGACCGCGGAGCTGCCCCCACCGTCACCTCTAGTGAGCGCCT
AGTCCCAGACCCGCCGAATGACCTCCGCAAAGAAGATGTTGCTATGGAATTGGAAAGAGTGGGA
GAAGATGAGGAACAAATGATGATAAAAAGAAGCAGTGAATGTAATCCCTTGCTACAAGAACCCA
TCGCTTCTGCTCAGTTTGGTGCTACTGCAGGAACAGAATGCCAAGATACCATCCCACGAACACA
GATAGAAAGAAGGAAAACAAGCCTGTATTTTTCCAGCAAATATAACAAAGAAGCTCTTAGCCCC
CCACGACGTAAAGCCTTTAAGAAATGGACACCTCCTCGGTCACCTTTTAATCTCGTTCAAGAAA
CACTTTTTCATGATCCATGGAAGCTTCTCATCGCTACTATATTTCTCAATCGGACCTCAGGCAA
AATGGCAATACCTGTGCTTTGGAAGTTTCTGGAGAAGTATCCTTCAGCTGAGGTAGCAAGAACC
GCAGACTGGAGAGATGTGTCAGAACTTCTTAAACCTCTTGGTCTCTACGATCTTCGGGCAAAAA
CCATTGTCAAGTTCTCAGATGAATACCTGACAAAGCAGTGGAAGTATCCAATTGAGCTTCATGG
GATTGGTAAATATGGCAACGACTCTTACCGAATTTTTTGTGTCAATGAGTGGAAGCAGGTGCAC
CCTGAAGACCACAAATTAAATAAATATCATGACTGGCTTTGGGAAAATCATGAAAAATTAAGTC
TATCTTAAACTCTGCAGCTTTCAAGCTCATCTGTTATGCATAGCTTTGCACTTCAAAAAAGCTT
AATTAAGTACAACCAACCACCTTTCCAGCCATAGAGATTTTAATTAGCCCAACTAGAAGCCTAG
TGTGTGTGCTTTCTTAATGTGTGTGCCAATGGTGGATCTTTGCTACTGAATGTGTTTGAACATG
TTTTGAGATTTTTTTAAAATAAATTATTATTTGACAACAATCCAAAAAAAATACGGCTTTTCCA
ATGATGAAATATAATCAGAAGATGAAAAATAGTTCTAAACTATCAATAATACAAAGCAAATTTC
TATCAGCCTTGCTAAAGCTAGGGGCCCACTAAATATTTTTATCGGCTAGGCGTGGTGGTGCATG
CCTGTAATCTCGGAAGGCTGAGGCAGGAGGATCATTTGAGCTCATGAGGGCCCAGGAGGTCAAG
GCTTCAGTGAGCCATGATCATGCCACTGCACTCCAGTCTGGATGACAGAGAGAGACCCTGTCTC
AAAAAATATATATTTAAAAAATAAAAATAAAAGCTGACCCCAAAGACAAA

hide sequence

RefSeq Acc Id:

NM_003925 ⟹ NP_003916

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	129,430,947 - 129,439,948 (-)	NCBI
GRCh37	3	129,149,787 - 129,159,022 (-)	NCBI
Build 36	3	130,632,483 - 130,641,542 (-)	NCBI Archive
HuRef	3	126,533,265 - 126,542,500 (-)	NCBI
CHM1_1	3	129,112,922 - 129,122,157 (-)	NCBI
T2T-CHM13v2.0	3	132,175,773 - 132,184,774 (-)	NCBI

Sequence:

show sequence

ATTCAGACCTCGGTTGCAGCCCGGTGCCGTGAGCTGAAGAGGTTTCACATCTTACTCCGCCCCA
CACCCTGGGCGTTGCGGCGCTGGGCTCGTTGCTGCAGCCGGACCCTGCTCGATGGGCACGACTG
GGCTGGAGAGTCTGAGTCTGGGGGACCGCGGAGCTGCCCCCACCGTCACCTCTAGTGAGCGCCT
AGTCCCAGACCCGCCGAATGACCTCCGCAAAGAAGATGTTGCTATGGAATTGGAAAGAGTGGGA
GAAGATGAGGAACAAATGATGATAAAAAGAAGCAGTGAATGTAATCCCTTGCTACAAGAACCCA
TCGCTTCTGCTCAGTTTGGTGCTACTGCAGGAACAGAATGCCGTAAGTCTGTCCCATGTGGATG
GGAAAGAGTTGTGAAGCAAAGGTTATTTGGGAAGACAGCAGGAAGATTTGATGTGTACTTTATC
AGCCCACAAGGACTGAAGTTCAGATCCAAAAGTTCACTTGCTAATTATCTTCACAAAAATGGAG
AGACTTCTCTTAAGCCAGAAGATTTTGATTTTACTGTACTTTCTAAAAGGGGTATCAAGTCAAG
ATATAAAGACTGCAGCATGGCAGCCCTGACATCCCATCTACAAAACCAAAGTAACAATTCAAAC
TGGAACCTCAGGACCCGAAGCAAGTGCAAAAAGGATGTGTTTATGCCGCCAAGTAGTAGTTCAG
AGTTGCAGGAGAGCAGAGGACTCTCTAACTTTACTTCCACTCATTTGCTTTTGAAAGAAGATGA
GGGTGTTGATGATGTTAACTTCAGAAAGGTTAGAAAGCCCAAAGGAAAGGTGACTATTTTGAAA
GGAATCCCAATTAAGAAAACTAAAAAAGGATGTAGGAAGAGCTGTTCAGGTTTTGTTCAAAGTG
ATAGCAAAAGAGAATCTGTGTGTAATAAAGCAGATGCTGAAAGTGAACCTGTTGCACAAAAAAG
TCAGCTTGATAGAACTGTCTGCATTTCTGATGCTGGAGCATGTGGTGAGACCCTCAGTGTGACC
AGTGAAGAAAACAGCCTTGTAAAAAAAAAAGAAAGATCATTGAGTTCAGGATCAAATTTTTGTT
CTGAACAAAAAACTTCTGGCATCATAAACAAATTTTGTTCAGCCAAAGACTCAGAACACAACGA
GAAGTATGAGGATACCTTTTTAGAATCTGAAGAAATCGGAACAAAAGTAGAAGTTGTGGAAAGG
AAAGAACATTTGCATACTGACATTTTAAAACGTGGCTCTGAAATGGACAACAACTGCTCACCAA
CCAGGAAAGACTTCACTGGTGAGAAAATATTTCAAGAAGATACCATCCCACGAACACAGATAGA
AAGAAGGAAAACAAGCCTGTATTTTTCCAGCAAATATAACAAAGAAGCTCTTAGCCCCCCACGA
CGTAAAGCCTTTAAGAAATGGACACCTCCTCGGTCACCTTTTAATCTCGTTCAAGAAACACTTT
TTCATGATCCATGGAAGCTTCTCATCGCTACTATATTTCTCAATCGGACCTCAGGCAAAATGGC
AATACCTGTGCTTTGGAAGTTTCTGGAGAAGTATCCTTCAGCTGAGGTAGCAAGAACCGCAGAC
TGGAGAGATGTGTCAGAACTTCTTAAACCTCTTGGTCTCTACGATCTTCGGGCAAAAACCATTG
TCAAGTTCTCAGATGAATACCTGACAAAGCAGTGGAAGTATCCAATTGAGCTTCATGGGATTGG
TAAATATGGCAACGACTCTTACCGAATTTTTTGTGTCAATGAGTGGAAGCAGGTGCACCCTGAA
GACCACAAATTAAATAAATATCATGACTGGCTTTGGGAAAATCATGAAAAATTAAGTCTATCTT
AAACTCTGCAGCTTTCAAGCTCATCTGTTATGCATAGCTTTGCACTTCAAAAAAGCTTAATTAA
GTACAACCAACCACCTTTCCAGCCATAGAGATTTTAATTAGCCCAACTAGAAGCCTAGTGTGTG
TGCTTTCTTAATGTGTGTGCCAATGGTGGATCTTTGCTACTGAATGTGTTTGAACATGTTTTGA
GATTTTTTTAAAATAAATTATTATTTGACAACAATCCAAAAAAAATACGGCTTTTCCAATGATG
AAATATAATCAGAAGATGAAAAATAGTTCTAAACTATCAATAATACAAAGCAAATTTCTATCAG
CCTTGCTAAAGCTAGGGGCCCACTAAATATTTTTATCGGCTAGGCGTGGTGGTGCATGCCTGTA
ATCTCGGAAGGCTGAGGCAGGAGGATCATTTGAGCTCATGAGGGCCCAGGAGGTCAAGGCTTCA
GTGAGCCATGATCATGCCACTGCACTCCAGTCTGGATGACAGAGAGAGACCCTGTCTCAAAAAA
TATATATTTAAAAAATAAAAATAAAAGCTGACCCCAAAGACAAA

hide sequence

RefSeq Acc Id:

XM_024453810 ⟹ XP_024309578

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	129,432,176 - 129,439,948 (-)	NCBI

Sequence:

show sequence

GATTGGTGGAGCGTGGAAATGGCGGCTGTAGCCGAGGGGGCGGCCGGAAAGCAGCGGCGGCGTC
TGGGGCGCTTTCGCAACATTCAGACCTCGGTTGCAGCCCGGTGCCGTGAGCTGAAGAGGTTTCA
CATCTTACTCCGCCCCACACCCTGGGCGTTGCGGCGCTGGGCTCGTTGCTGCAGCCGGACCCTG
CTCGATGGGCACGACTGGGCTGGAGAGTCTGAGTCTGGGGGACCGCGGAGCTGCCCCCACCGTC
ACCTCTAGTGAGCGCCTAGTCCCAGACCCGCCGAATGACCTCCGCAAAGAAGATGTTGCTATGG
AATTGGAAAGAGTGGGAGAAGATGAGGAACAAATGATGATAAAAAGAAGCAGTGAATGTAATCC
CTTGCTACAAGAACCCATCGCTTCTGCTCAGTTTGGTGCTACTGCAGGAACAGAATGCCGTAAG
TCTGTCCCATGTGGATGGGAAAGAGTTGTGAAGCAAAGGTTATTTGGGAAGACAGCAGGAAGAT
TTGATGTGTACTTTATCAGCCCACAAGGACTGAAGTTCAGATCCAAAAGTTCACTTGCTAATTA
TCTTCACAAAAATGGAGAGACTTCTCTTAAGCCAGAAGATTTTGATTTTACTGTACTTTCTAAA
AGGGGTATCAAGTCAAGATATAAAGACTGCAGCATGGCAGCCCTGACATCCCATCTACAAAACC
AAAGTAACAATTCAAACTGGAACCTCAGGACCCGAAGCAAGTGCAAAAAGGATGTGTTTATGCC
GCCAAGTAGTAGTTCAGAGTTGCAGGAGAGCAGAGGACTCTCTAACTTTACTTCCACTCATTTG
CTTTTGAAAGAAGATGAGGGTGTTGATGATGTTAACTTCAGAAAGGTTAGAAAGCCCAAAGGAA
AGGTGACTATTTTGAAAGGAATCCCAATTAAGAAAACTAAAAAAGGATGTAGGAAGAGCTGTTC
AGGTTTTGTTCAAAGTGATAGCAAAAGAGAATCTGTGTGTAATAAAGCAGATGCTGAAAGTGAA
CCTGTTGCACAAAAAAGTCAGCTTGATAGAACTGTCTGCATTTCTGATGCTGGAGCATGTGGTG
AGACCCTCAGTGTGACCAGTGAAGAAAACAGCCTTGTAAAAAAAAAAGAAAGATCATTGAGTTC
AGGATCAAATTTTTGTTCTGAACAAAAAACTTCTGGCATCATAAACAAATTTTGTTCAGCCAAA
GACTCAGAACACAACGAGAAGTATGAGGATACCTTTTTAGAATCTGAAGAAATCGGAACAAAAG
TAGAAGTTGTGGAAAGGAAAGAACATTTGCATACTGACATTTTAAAACGTGGCTCTGAAATGGA
CAACAACTGCTCACCAACCAGGAAAGACTTCACTGAAGATACCATCCCACGAACACAGATAGAA
AGAAGGAAAACAAGCCTGTATTTTTCCAGCAAATATAACAAAGAAGCTCTTAGCCCCCCACGAC
GTAAAGCCTTTAAGAAATGGACACCTCCTCGGTCACCTTTTAATCTCGTTCAAGAAACACTTTT
TCATGATCCATGGAAGCTTCTCATCGCTACTATATTTCTCAATCGGACCTCAGGCAAAATGGCA
ATACCTGTGCTTTGGAAGTTTCTGGAGAAGTATCCTTCAGCTGAGGTAGCAAGAACCGCAGACT
GGAGAGATGTGTCAGAACTTCTTAAACCTCTTGGTCTCTACGATCTTCGGGCAAAAACCATTGT
CAAGTTCTCAGATGAATACCTGACAAAGCAGTGGAAGTATCCAATTGAGCTTCATGGGATTGGT
AAATATGGCAACGACTCTTACCGAATTTTTTGTGTCAATGAGTGGAAGCAGGTGAGGCTCACTC
CCATCCATAATTCAGCACATTTGGTCTCTGAGGCAAAATAAGTCCACCATTATGGTTAAGACTA
TTTATTGGATACAAATGCTATTACAGTCACAAACAATTGTGTTCCTGGCTGCGGGGAAGCGGGT
GGCATGTGGGTTTTGGGGTTTTTGATCAGTAGGCGCTCCCAAGTCCACAAAGACCAGTCCAGCG
GCGTGGCCTCTGACTCATCTCCAGTGGTTTGTCACCTCTGGCCCTGTTCCTGTCATTCCCTATT
TGTGTGCTATCTCTAAGCCTGACGTGGTTTTCCTCCTGTCAAAAGTACACCACTACAGGAAAGC
AGGAAGGTTTGGGCCTGCAATGTATGCATATTGGGTTTCTCTTAGTGGTCTCAGACTACGTTTG
TGGTGACTGGGTCCTGCTTCAGCCCTGTTGAATATGCCCAGCCTGTGGCATGCTGGTGGTCATC
CTGGCAGCTGGTGGGTGGCCTGGTATGCTGCCCACTCAGCTTGAGACTCACCCTCATGCATTCA
GCCAGTAGGTCTGGCCAAGCCTGAACTGAAGGACCATGGTCCTATCCCAGCTTCATCAGAGCAA
TCCATTGTGACCTGAGAATCCATTTAACCTCTCGGTCTAGAACCTCCTTCTGGAAAGTGAGGTA
TTAATACTTGACTCATGTTATCGCCACCCCACATTCTAAGTCATGGTTGAGTAGTAATTTGGAC
AGTACCTTGTAAATTGTGTGAGATTACCTTAATATAAGGTATAACTTAAAATATTCATGAATCC
CAGGAGGTTAAAGGTTATAACTTTTAGGTATGGTATCGTAATGTACTGTCCCCCAGCAAACATT
TAAAAAGCCAATTTTAAAAAATGTATTTCTGACTAAGTTACATTAAGGTCTCTGCCTCTGTATC
TTATGTTTCTTCCAGGTGCACCCTGAAGACCACAAATTAAATAAATATCATGACTGGCTTTGGG
AAAATCATGAAAAATTAAGTCTATCTTAAACTCTGCAGCTTTCAAGCTCATCTGTTATGCATAG
CTTTGCACTTCAAAAAAGCTTAATTAAGTACAACCAACCACCTTTCCAGCCATAGAGATTTTAA
TTAGCCCAACTAGAAGCCTAGTGTGTGTGCTTTCTTAATGTGTGTGCCAATGGTGGATCTTTGC
TACTGAATGTGTTTGAACATGTTTTGAGATTTTTTTAAAATAAATTATTATTTGACAACAATCC
AAAAAAAA

hide sequence

RefSeq Acc Id:

XM_047449153 ⟹ XP_047305109

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	129,430,947 - 129,439,948 (-)	NCBI

RefSeq Acc Id:

XM_054348284 ⟹ XP_054204259

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	3	132,177,002 - 132,184,774 (-)	NCBI

RefSeq Acc Id:

XM_054348285 ⟹ XP_054204260

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	3	132,175,773 - 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:	show sequence MGTTGLESLSLGDRGAAPTVTSSERLVPDPPNDLRKEDVAMELERVGEDEEQMMIKRSSECNPL LQEPIASAQFGATAGTECRKSVPCGWERVVKQRLFGKTAGRFDVYFISPQGLKFRSKSSLANYL HKNGETSLKPEDFDFTVLSKRGIKSRYKDCSMAALTSHLQNQSNNSNWNLRTRSKCKKDVFMPP SSSSELQESRGLSNFTSTHLLLKEDEGVDDVNFRKVRKPKGKVTILKGIPIKKTKKGCRKSCSG FVQSDSKRESVCNKADAESEPVAQKSQLDRTVCISDAGACGETLSVTSEENSLVKKKERSLSSG SNFCSEQKTSGIINKFCSAKDSEHNEKYEDTFLESEEIGTKVEVVERKEHLHTDILKRGSEMDN NCSPTRKDFTGEKIFQEDTIPRTQIERRKTSLYFSSKYNKEALSPPRRKAFKKWTPPRSPFNLV QETLFHDPWKLLIATIFLNRTSGKMAIPVLWKFLEKYPSAEVARTADWRDVSELLKPLGLYDLR AKTIVKFSDEYLTKQWKYPIELHGIGKYGNDSYRIFCVNEWKQVHPEDHKLNKYHDWLWENHEK LSLS hide sequence

RefSeq Acc Id:	NP_001263202 ⟸ NM_001276273
- Peptide Label:	isoform 5
- UniProtKB:	O95243 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MGTTGLESLSLGDRGAAPTVTSSERLVPDPPNDLRKEDVAMELERVGEDEEQMMIKRSSECNPL LQEPIASAQFGATAGTECQDTIPRTQIERRKTSLYFSSKYNKEALSPPRRKAFKKWTPPRSPFN LVQETLFHDPWKLLIATIFLNRTSGKMAIPVLWKFLEKYPSAEVARTADWRDVSELLKPLGLYD LRAKTIVKFSDEYLTKQWKYPIELHGIGKYGNDSYRIFCVNEWKQVHPEDHKLNKYHDWLWENH EKLSLS hide sequence

RefSeq Acc Id:	NP_001263199 ⟸ NM_001276270
- Peptide Label:	isoform 2
- UniProtKB:	O95243 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MGTTGLESLSLGDRGAAPTVTSSERLVPDPPNDLRKEDVAMELERVGEDEEQMMIKRSSECNPL LQEPIASAQFGATAGTECRKSVPCGWERVVKQRLFGKTAGRFDVYFISPQGLKFRSKSSLANYL HKNGETSLKPEDFDFTVLSKRGIKSRYKDCSMAALTSHLQNQSNNSNWNLRTRSKCKKDVFMPP SSSSELQESRGLSNFTSTHLLLKEDEGVDDVNFRKVRKPKGKVTILKGIPIKKTKKGCRKSCSG FVQSDSKRESVCNKADAESEPVAQKSQLDRTVCISDAGACGETLSVTSEENSLVKKKERSLSSG SNFCSEQKTSGIINKFCSAKDSEHNEKYEDTFLESEEIGTKVEVVERKEHLHTDILKRGSEMDN NCSPTRKDFTEDTIPRTQIERRKTSLYFSSKYNKEALSPPRRKAFKKWTPPRSPFNLVQETLFH DPWKLLIATIFLNRTSGKMAIPVLWKFLEKYPSAEVARTADWRDVSELLKPLGLYDLRAKTIVK FSDEYLTKQWKYPIELHGIGKYGNDSYRIFCVNEWKQVHPEDHKLNKYHDWLWENHEKLSLS hide sequence

RefSeq Acc Id:	NP_001263201 ⟸ NM_001276272
- Peptide Label:	isoform 4
- UniProtKB:	O95243 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MGTTGLESLSLGDRGAAPTVTSSERLVPDPPNDLRKEDVAMELERVGEDEEQMMIKRSSECNPL LQEPIASAQFGATAGTECRKSVPCGWERVVKQRLFGKTAGRFDVYFISPQGLKFRSKSSLANYL HKNGETSLKPEDFDFTVLSKRGIKSRYKDCSMAALTSHLQNQSNNSNWNLRTRSKCKKDVFMPP SSSSELQESRGLSNFTSTHLLLKEDEGVDDVNFRKVRKPKGKVTILKGIPIKKTKKGCRKSCSG FVQSDSKRESVCNKADAESEPVAQKSQLDRTVCISDAGACGETLSVTSEENSLVKKKERSLSSG SNFCSEQKTSGIINKFCSAKDSEHNEKYEDTFLESEEIGTKVEVVERKEHLHTDILKRGSEMDN NCSPTRKDFTGEKIFQEDTIPRTQIERRKTSLYFSSKYNKEALSPPRRKAFKKWTPPRSPFNLV QETLFHDPWKLLIATIFLNRTSGKMAIPVLWKFLEKYPSAEVARTADWRDVSELLKPLGLYDLR AKTIVKFSDEYLTKQWKYPIELHGIGAP hide sequence

RefSeq Acc Id:	NP_001263200 ⟸ NM_001276271
- Peptide Label:	isoform 3
- UniProtKB:	O95243 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MGTTGLESLSLGDRGAAPTVTSSERLVPDPPNDLRKEDVAMELERVGEDEEQMMIKRSSECNPL LQEPIASAQFGATAGTECRKSVPCGWERVVKQRLFGKTAGRFDVYFISPQGLKFRSKSSLANYL HKNGETSLKPEDFDFTVLSKRGIKSRYKDCSMAALTSHLQNQSNNSNWNLRTRSKCKKDVFMPP SSSSELQESRGLSNFTSTHLLLKEDEGVDDVNFRKVRKPKGKVTILKGIPIKKTKKGCRKSCSG FVQSDSKRESVCNKADAESEPVAQKSQLDRTVCISDAGACGETLSVTSEENSLVKKKERSLSSG SNFCSEQKTSGIINKFCSAKDSEHNEKYEDTFLESEEIGTKVEVVERKEHLHTDILKRGSEMDN NCSPTRKDFTGEKIFQEDTIPRTQIERRKTSLYFSSKYNKEALSPPRRKAFKKWTPPRSPFNLV QETLFHDPWKLLIATIFLNRTSGKMAIPVLWKFLEKYPSAEVARTADWRDVSELLKPLGLYDLR AKTIVKFSDEYLTKQWKYPIELHGIGKYGNDSYRIFCVNEWKQVRLTPIHNSAHLVSEAK hide sequence

RefSeq Acc Id:

XP_024309578 ⟸ XM_024453810

- Peptide Label:

isoform X1

- Sequence:

show sequence

MGTTGLESLSLGDRGAAPTVTSSERLVPDPPNDLRKEDVAMELERVGEDEEQMMIKRSSECNPL
LQEPIASAQFGATAGTECRKSVPCGWERVVKQRLFGKTAGRFDVYFISPQGLKFRSKSSLANYL
HKNGETSLKPEDFDFTVLSKRGIKSRYKDCSMAALTSHLQNQSNNSNWNLRTRSKCKKDVFMPP
SSSSELQESRGLSNFTSTHLLLKEDEGVDDVNFRKVRKPKGKVTILKGIPIKKTKKGCRKSCSG
FVQSDSKRESVCNKADAESEPVAQKSQLDRTVCISDAGACGETLSVTSEENSLVKKKERSLSSG
SNFCSEQKTSGIINKFCSAKDSEHNEKYEDTFLESEEIGTKVEVVERKEHLHTDILKRGSEMDN
NCSPTRKDFTEDTIPRTQIERRKTSLYFSSKYNKEALSPPRRKAFKKWTPPRSPFNLVQETLFH
DPWKLLIATIFLNRTSGKMAIPVLWKFLEKYPSAEVARTADWRDVSELLKPLGLYDLRAKTIVK
FSDEYLTKQWKYPIELHGIGKYGNDSYRIFCVNEWKQVRLTPIHNSAHLVSEAK

hide 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 Assembly	Chr	Position (strand)	Source
GRCh38	3	129,439,940 - 129,440,000	EPDNEW

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 Assembly	Chr	Position (strand)	Source
GRCh38	3	129,440,489 - 129,440,549	EPDNEW

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 Assembly	Chr	Position (strand)	Source
Build 36	3	130,641,356 - 130,642,052 (-)	MPROMDB

Additional Information

External Database Links

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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Manual Human Phenotype Annotations - RGD

Imported Human Phenotype Annotations - HPO

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Manual Human Phenotype Annotations - RGD

Imported Human Phenotype Annotations - HPO