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Gene: LOC126862785 (MED14-independent group 3 enhancer GRCh37_chr18:67714790-67715989) Homo sapiens

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Symbol:

LOC126862785

Name:

MED14-independent group 3 enhancer GRCh37_chr18:67714790-67715989

RGD ID:

155229916

Description:

This genomic region was validated as an active enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay in HCT116 colorectal carcinoma cells. This sequence was defined as a group 3 enhancer that depends on the BRD2, BRD4, P300/CBP and CDK7 cofactors, but it has limited or no dependence on the MED14 core Mediator complex subunit. [provided by RefSeq, Sep 2022]

Type:

biological-region

RefSeq Status:

REVIEWED

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	18	70,047,554 - 70,048,753 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	18	67,714,790 - 67,715,989 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
T2T-CHM13v2.0	18	70,264,612 - 70,265,811 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
LOC126862785	Human	chromosome 18q deletion syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Monosomy 18q and deletion 18q	ClinVar	PMID:31690835
LOC126862785	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
LOC126862785	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
LOC126862785	Human	Microcephaly, Short Stature, and Polymicrogyria with or without Seizures		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: RTTN-related condition	ClinVar	PMID:28492532
LOC126862785	Human	pulmonary valve stenosis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pulmonary valve stenosis	ClinVar	PMID:25741868

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
LOC126862785	Human	Pulmonic stenosis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pulmonary valve stenosis	ClinVar	PMID:25741868

PMID:35650434

Variants in LOC126862785
29 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_173630.4(RTTN):c.5358G>A (p.Thr1786=)	single nucleotide variant	not provided [RCV000896998]	Chr18:70048154 [GRCh38] Chr18:67715390 [GRCh37] Chr18:18q22.2	likely benign
NM_173630.4(RTTN):c.5500A>G (p.Asn1834Asp)	single nucleotide variant	Inborn genetic diseases [RCV002563360]\|not provided [RCV001948996]	Chr18:70048012 [GRCh38] Chr18:67715248 [GRCh37] Chr18:18q22.2	uncertain significance
NM_173630.4(RTTN):c.5507A>G (p.Lys1836Arg)	single nucleotide variant	Inborn genetic diseases [RCV002569173]\|not provided [RCV001968388]	Chr18:70048005 [GRCh38] Chr18:67715241 [GRCh37] Chr18:18q22.2	uncertain significance
NM_173630.4(RTTN):c.5541+16G>T	single nucleotide variant	not provided [RCV002059659]\|not specified [RCV000434564]	Chr18:70047955 [GRCh38] Chr18:67715191 [GRCh37] Chr18:18q22.2	benign
NM_173630.4(RTTN):c.5459G>A (p.Cys1820Tyr)	single nucleotide variant	not provided [RCV001982404]	Chr18:70048053 [GRCh38] Chr18:67715289 [GRCh37] Chr18:18q22.2	uncertain significance
NM_173630.4(RTTN):c.5349G>C (p.Leu1783Phe)	single nucleotide variant	Inborn genetic diseases [RCV004953071]\|not provided [RCV001800071]	Chr18:70048163 [GRCh38] Chr18:67715399 [GRCh37] Chr18:18q22.2	uncertain significance
GRCh38/hg38 18q22.1-23(chr18:63988650-80252149)x1	copy number loss	See cases [RCV000053876]	Chr18:63988650..80252149 [GRCh38] Chr18:61655884..78010032 [GRCh37] Chr18:59806864..76111023 [NCBI36] Chr18:18q22.1-23	pathogenic
NM_173630.4(RTTN):c.5357C>T (p.Thr1786Met)	single nucleotide variant	not provided [RCV002276284]	Chr18:70048155 [GRCh38] Chr18:67715391 [GRCh37] Chr18:18q22.2	uncertain significance
NM_173630.4(RTTN):c.5460T>C (p.Cys1820=)	single nucleotide variant	not provided [RCV002138927]	Chr18:70048052 [GRCh38] Chr18:67715288 [GRCh37] Chr18:18q22.2	likely benign
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	copy number gain	See cases [RCV000052514]	Chr18:148963..80244381 [GRCh38] Chr18:148963..78002264 [GRCh37] Chr18:138963..76103255 [NCBI36] Chr18:18p11.32-q23	pathogenic
NM_173630.4(RTTN):c.5533A>G (p.Ile1845Val)	single nucleotide variant	Inborn genetic diseases [RCV004961105]\|not provided [RCV002599651]	Chr18:70047979 [GRCh38] Chr18:67715215 [GRCh37] Chr18:18q22.2	uncertain significance
NM_173630.4(RTTN):c.5541+283C>G	single nucleotide variant	not provided [RCV001590211]	Chr18:70047688 [GRCh38] Chr18:67714924 [GRCh37] Chr18:18q22.2	likely benign
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	copy number gain	See cases [RCV000052501]	Chr18:53345..80209986 [GRCh38] Chr18:53345..77967869 [GRCh37] Chr18:43345..76068860 [NCBI36] Chr18:18p11.32-q23	pathogenic
NM_173630.4(RTTN):c.5410G>A (p.Glu1804Lys)	single nucleotide variant	Inborn genetic diseases [RCV004953143]\|not provided [RCV002051021]	Chr18:70048102 [GRCh38] Chr18:67715338 [GRCh37] Chr18:18q22.2	uncertain significance
GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1	copy number loss	See cases [RCV000133689]	Chr18:59567681..80252149 [GRCh38] Chr18:57234913..78010032 [GRCh37] Chr18:55385893..76111023 [NCBI36] Chr18:18q21.32-23	pathogenic
GRCh38/hg38 18q22.2-23(chr18:69200589-80252149)x1	copy number loss	See cases [RCV000133824]	Chr18:69200589..80252149 [GRCh38] Chr18:66867826..78010032 [GRCh37] Chr18:65018806..76111023 [NCBI36] Chr18:18q22.2-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	copy number gain	See cases [RCV000134110]	Chr18:149089..80234391 [GRCh38] Chr18:149089..77992274 [GRCh37] Chr18:139089..76093265 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1	copy number loss	See cases [RCV000053875]	Chr18:62999696..80209986 [GRCh38] Chr18:60666929..77967869 [GRCh37] Chr18:58817909..76068860 [NCBI36] Chr18:18q21.33-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:64950938-80252149)x1	copy number loss	See cases [RCV000050985]	Chr18:64950938..80252149 [GRCh38] Chr18:62618174..78010032 [GRCh37] Chr18:60769154..76111023 [NCBI36] Chr18:18q22.1-23	pathogenic
Single allele	deletion	Deletion of long arm of chromosome 18 [RCV002280357]	Chr18:61490305..80247612 [GRCh38] Chr18:18q21.33-23	pathogenic
NM_173630.4(RTTN):c.5415A>G (p.Glu1805=)	single nucleotide variant	not provided [RCV002152178]	Chr18:70048097 [GRCh38] Chr18:67715333 [GRCh37] Chr18:18q22.2	likely benign
NM_173630.4(RTTN):c.5454A>G (p.Leu1818=)	single nucleotide variant	not provided [RCV002095775]	Chr18:70048058 [GRCh38] Chr18:67715294 [GRCh37] Chr18:18q22.2	likely benign
GRCh38/hg38 18q22.1-23(chr18:68417596-80252149)x1	copy number loss	See cases [RCV000136122]	Chr18:68417596..80252149 [GRCh38] Chr18:66084833..78010032 [GRCh37] Chr18:64235813..76111023 [NCBI36] Chr18:18q22.1-23	pathogenic
NM_173630.4(RTTN):c.5409C>T (p.Thr1803=)	single nucleotide variant	not provided [RCV002131327]	Chr18:70048103 [GRCh38] Chr18:67715339 [GRCh37] Chr18:18q22.2	likely benign
GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	copy number loss	See cases [RCV000053873]	Chr18:56353040..80209986 [GRCh38] Chr18:54020271..77967869 [GRCh37] Chr18:52171269..76068860 [NCBI36] Chr18:18q21.31-23	pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	copy number gain	See cases [RCV000052549]	Chr18:20989762..80209986 [GRCh38] Chr18:18569723..77967869 [GRCh37] Chr18:16823721..76068860 [NCBI36] Chr18:18q11.1-23	pathogenic
GRCh38/hg38 18q22.2-23(chr18:69288245-80252149)x1	copy number loss	See cases [RCV000053905]	Chr18:69288245..80252149 [GRCh38] Chr18:66955481..78010032 [GRCh37] Chr18:65106461..76111023 [NCBI36] Chr18:18q22.2-23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:63195579-80234429)x3	copy number gain	See cases [RCV000052572]	Chr18:63195579..80234429 [GRCh38] Chr18:60862812..77992312 [GRCh37] Chr18:59013792..76093303 [NCBI36] Chr18:18q21.33-23	pathogenic
NM_173630.4(RTTN):c.5493T>G (p.Ser1831=)	single nucleotide variant	not provided [RCV000976064]	Chr18:70048019 [GRCh38] Chr18:67715255 [GRCh37] Chr18:18q22.2	likely benign
Single allele	deletion	Pulmonary valve stenosis [RCV002247713]	Chr18:69541066..80373285 [GRCh38] Chr18:18q22.2-23	pathogenic
NM_173630.4(RTTN):c.5418A>T (p.Ala1806=)	single nucleotide variant	not provided [RCV002152176]	Chr18:70048094 [GRCh38] Chr18:67715330 [GRCh37] Chr18:18q22.2	likely benign
GRCh38/hg38 18q22.2(chr18:70046020-70849885)x1	copy number loss	See cases [RCV000133992]	Chr18:70046020..70849885 [GRCh38] Chr18:67713256..68517121 [GRCh37] Chr18:65864236..66668101 [NCBI36] Chr18:18q22.2	uncertain significance
NM_173630.4(RTTN):c.5535C>A (p.Ile1845=)	single nucleotide variant	not provided [RCV002086844]	Chr18:70047977 [GRCh38] Chr18:67715213 [GRCh37] Chr18:18q22.2	likely benign
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	copy number gain	See cases [RCV000052543]	Chr18:20960320..80234429 [GRCh38] Chr18:18540281..77992312 [GRCh37] Chr18:16794279..76093303 [NCBI36] Chr18:18q11.1-23	pathogenic
NM_173630.4(RTTN):c.5456G>T (p.Cys1819Phe)	single nucleotide variant	not provided [RCV001924093]	Chr18:70048056 [GRCh38] Chr18:67715292 [GRCh37] Chr18:18q22.2	uncertain significance
GRCh38/hg38 18q21.33-23(chr18:63306200-80252149)x1	copy number loss	See cases [RCV000135838]	Chr18:63306200..80252149 [GRCh38] Chr18:60973433..78010032 [GRCh37] Chr18:59124413..76111023 [NCBI36] Chr18:18q21.33-23	pathogenic
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	copy number gain	See cases [RCV000050989]	Chr18:50068129..80252149 [GRCh38] Chr18:47594499..78010032 [GRCh37] Chr18:45848497..76111023 [NCBI36] Chr18:18q21.1-23	pathogenic
NM_173630.4(RTTN):c.5469_5470del (p.Val1824fs)	deletion	not provided [RCV000656259]	Chr18:70048042..70048043 [GRCh38] Chr18:67715278..67715279 [GRCh37] Chr18:18q22.2	pathogenic
NM_173630.4(RTTN):c.5527G>C (p.Asp1843His)	single nucleotide variant	not provided [RCV003105890]\|not specified [RCV000413049]	Chr18:70047985 [GRCh38] Chr18:67715221 [GRCh37] Chr18:18q22.2	uncertain significance
GRCh38/hg38 18q22.1-23(chr18:68340002-80256240)x1	copy number loss	See cases [RCV000140899]	Chr18:68340002..80256240 [GRCh38] Chr18:66007239..78014123 [GRCh37] Chr18:64158219..76115097 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:68830234-80254946)x1	copy number loss	See cases [RCV000137431]	Chr18:68830234..80254946 [GRCh38] Chr18:66497471..78012829 [GRCh37] Chr18:64648451..76113817 [NCBI36] Chr18:18q22.1-23	pathogenic
NM_173630.4(RTTN):c.5470G>A (p.Val1824Met)	single nucleotide variant	Inborn genetic diseases [RCV002864483]	Chr18:70048042 [GRCh38] Chr18:67715278 [GRCh37] Chr18:18q22.2	likely benign
GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1	copy number loss	See cases [RCV000141429]	Chr18:61613338..80252090 [GRCh38] Chr18:59280571..78009973 [GRCh37] Chr18:57431551..76110964 [NCBI36] Chr18:18q21.33-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	copy number gain	See cases [RCV000139496]	Chr18:53959828..80254936 [GRCh38] Chr18:51486198..78012819 [GRCh37] Chr18:49740196..76113807 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	copy number loss	See cases [RCV000140925]	Chr18:51167159..80256240 [GRCh38] Chr18:48693529..78014123 [GRCh37] Chr18:46947527..76115097 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:61827111-80252149)x1	copy number loss	See cases [RCV000135567]	Chr18:61827111..80252149 [GRCh38] Chr18:59494344..78010032 [GRCh37] Chr18:57645324..76111023 [NCBI36] Chr18:18q21.33-23	pathogenic\|uncertain significance
GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1	copy number loss	See cases [RCV000135616]	Chr18:61576009..80252149 [GRCh38] Chr18:59243242..78010032 [GRCh37] Chr18:57394222..76111023 [NCBI36] Chr18:18q21.33-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:67772576-80252149)x1	copy number loss	See cases [RCV000136555]	Chr18:67772576..80252149 [GRCh38] Chr18:65439813..78010032 [GRCh37] Chr18:63590793..76111023 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q22.2-23(chr18:69650802-80254946)x1	copy number loss	See cases [RCV000138248]	Chr18:69650802..80254946 [GRCh38] Chr18:67318038..78012829 [GRCh37] Chr18:65469018..76113817 [NCBI36] Chr18:18q22.2-23	pathogenic
GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1	copy number loss	See cases [RCV000051032]	Chr18:56618038..80252149 [GRCh38] Chr18:54285269..78010032 [GRCh37] Chr18:52436267..76111023 [NCBI36] Chr18:18q21.31-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	copy number loss	See cases [RCV000136674]	Chr18:53865057..80252149 [GRCh38] Chr18:51391427..78010032 [GRCh37] Chr18:49645425..76111023 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1	copy number loss	See cases [RCV000139669]	Chr18:59996934..80254946 [GRCh38] Chr18:57664166..78012829 [GRCh37] Chr18:55815146..76113817 [NCBI36] Chr18:18q21.32-23	pathogenic
NM_173630.4(RTTN):c.5461A>G (p.Ser1821Gly)	single nucleotide variant	not provided [RCV002837769]	Chr18:70048051 [GRCh38] Chr18:67715287 [GRCh37] Chr18:18q22.2	uncertain significance
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	copy number loss	See cases [RCV000137375]	Chr18:55179364..80254946 [GRCh38] Chr18:52846595..78012829 [GRCh37] Chr18:50997593..76113817 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	copy number gain	See cases [RCV000136890]	Chr18:32123105..80252149 [GRCh38] Chr18:29703068..78010032 [GRCh37] Chr18:27957066..76111023 [NCBI36] Chr18:18q12.1-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:68563422-80254946)x1	copy number loss	See cases [RCV000137379]	Chr18:68563422..80254946 [GRCh38] Chr18:66230659..78012829 [GRCh37] Chr18:64381639..76113817 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	copy number gain	See cases [RCV000138034]	Chr18:42651392..80254946 [GRCh38] Chr18:40231357..78012829 [GRCh37] Chr18:38485355..76113817 [NCBI36] Chr18:18q12.3-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:66190016-80254946)x1	copy number loss	See cases [RCV000137808]	Chr18:66190016..80254946 [GRCh38] Chr18:63857253..78012829 [GRCh37] Chr18:62008233..76113817 [NCBI36] Chr18:18q22.1-23	pathogenic\|likely pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	copy number gain	See cases [RCV000139397]	Chr18:149089..80254936 [GRCh38] Chr18:149089..78012819 [GRCh37] Chr18:139089..76113807 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	copy number gain	See cases [RCV000051048]	Chr18:148963..80252149 [GRCh38] Chr18:148963..78010032 [GRCh37] Chr18:138963..76111023 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:65658824-80254946)x1	copy number loss	See cases [RCV000137598]	Chr18:65658824..80254946 [GRCh38] Chr18:63326060..78012829 [GRCh37] Chr18:61477040..76113817 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:64747728-80254946)x1	copy number loss	See cases [RCV000138707]	Chr18:64747728..80254946 [GRCh38] Chr18:62414964..78012829 [GRCh37] Chr18:60565944..76113817 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:66649227-80254936)x1	copy number loss	See cases [RCV000138638]	Chr18:66649227..80254936 [GRCh38] Chr18:64316464..78012819 [GRCh37] Chr18:62467444..76113807 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	copy number loss	See cases [RCV000139134]	Chr18:52421052..80254946 [GRCh38] Chr18:49947422..78012829 [GRCh37] Chr18:48201420..76113817 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:65693588-80252149)x1	copy number loss	See cases [RCV000136911]	Chr18:65693588..80252149 [GRCh38] Chr18:63360824..78010032 [GRCh37] Chr18:61511804..76111023 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q21.33-23(chr18:63756916-80254946)x1	copy number loss	See cases [RCV000139464]	Chr18:63756916..80254946 [GRCh38] Chr18:61424150..78012829 [GRCh37] Chr18:59575130..76113817 [NCBI36] Chr18:18q21.33-23	pathogenic
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	copy number loss	See cases [RCV000135413]	Chr18:51190429..80252149 [GRCh38] Chr18:48716799..78010032 [GRCh37] Chr18:46970797..76111023 [NCBI36] Chr18:18q21.2-23	pathogenic
GRCh38/hg38 18q21.32-22.3(chr18:59909593-72609801)x3	copy number gain	See cases [RCV000143195]	Chr18:59909593..72609801 [GRCh38] Chr18:57576825..70277036 [GRCh37] Chr18:55727805..68428016 [NCBI36] Chr18:18q21.32-22.3	likely pathogenic
NM_173630.4(RTTN):c.5450A>T (p.His1817Leu)	single nucleotide variant	not provided [RCV002903549]	Chr18:70048062 [GRCh38] Chr18:67715298 [GRCh37] Chr18:18q22.2	uncertain significance
GRCh38/hg38 18q22.1-23(chr18:68857904-80256240)x1	copy number loss	See cases [RCV000143557]	Chr18:68857904..80256240 [GRCh38] Chr18:66525141..78014123 [GRCh37] Chr18:64676121..76115097 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	copy number gain	See cases [RCV000148072]	Chr18:148963..80252149 [GRCh38] Chr18:148963..78010032 [GRCh37] Chr18:138963..76111023 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	copy number gain	See cases [RCV000142244]	Chr18:136227..80256240 [GRCh38] Chr18:136227..78014123 [GRCh37] Chr18:126227..76115097 [NCBI36] Chr18:18p11.32-q23	pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	copy number gain	See cases [RCV000142227]	Chr18:40367455..80256240 [GRCh38] Chr18:37947419..78014123 [GRCh37] Chr18:36201417..76115097 [NCBI36] Chr18:18q12.3-23	pathogenic
GRCh38/hg38 18q22.1-23(chr18:67686362-80252149)x3	copy number gain	See cases [RCV000142689]	Chr18:67686362..80252149 [GRCh38] Chr18:65353599..78010032 [GRCh37] Chr18:63504579..76111023 [NCBI36] Chr18:18q22.1-23	pathogenic\|likely pathogenic
GRCh38/hg38 18q22.1-23(chr18:66456349-80256240)x1	copy number loss	See cases [RCV000142176]	Chr18:66456349..80256240 [GRCh38] Chr18:64123586..78014123 [GRCh37] Chr18:62274566..76115097 [NCBI36] Chr18:18q22.1-23	pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	copy number gain	See cases [RCV000143057]	Chr18:20962119..74691446 [GRCh38] Chr18:18542080..72403402 [GRCh37] Chr18:16796078..70532390 [NCBI36] Chr18:18q11.1-22.3	pathogenic
NM_173630.4(RTTN):c.5324-9T>C	single nucleotide variant	not provided [RCV003110690]	Chr18:70048197 [GRCh38] Chr18:67715433 [GRCh37] Chr18:18q22.2	likely benign
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	copy number gain	See cases [RCV000143218]	Chr18:136226..80256240 [GRCh38] Chr18:136226..78014123 [GRCh37] Chr18:126226..76115097 [NCBI36] Chr18:18p11.32-q23	pathogenic
NM_173630.4(RTTN):c.5541+17T>G	single nucleotide variant	not provided [RCV003670224]	Chr18:70047954 [GRCh38] Chr18:67715190 [GRCh37] Chr18:18q22.2	likely benign
NM_173630.4(RTTN):c.5358G>C (p.Thr1786=)	single nucleotide variant	RTTN-related disorder [RCV003966604]\|not provided [RCV003724595]	Chr18:70048154 [GRCh38] Chr18:67715390 [GRCh37] Chr18:18q22.2	likely benign
NM_173630.4(RTTN):c.5457C>T (p.Cys1819=)	single nucleotide variant	not provided [RCV003737202]	Chr18:70048055 [GRCh38] Chr18:67715291 [GRCh37] Chr18:18q22.2	likely benign
NM_173630.4(RTTN):c.5420A>G (p.Lys1807Arg)	single nucleotide variant	not provided [RCV004590861]	Chr18:70048092 [GRCh38] Chr18:67715328 [GRCh37] Chr18:18q22.2	uncertain significance
NM_173630.4(RTTN):c.5324-9T>A	single nucleotide variant	not provided [RCV005128854]	Chr18:70048197 [GRCh38] Chr18:67715433 [GRCh37] Chr18:18q22.2	uncertain significance
NM_173630.4(RTTN):c.5335A>C (p.Thr1779Pro)	single nucleotide variant	not provided [RCV005133843]	Chr18:70048177 [GRCh38] Chr18:67715413 [GRCh37] Chr18:18q22.2	uncertain significance
NM_173630.4(RTTN):c.5514A>G (p.Leu1838=)	single nucleotide variant	not provided [RCV005180747]	Chr18:70047998 [GRCh38] Chr18:67715234 [GRCh37] Chr18:18q22.2	likely benign
NM_173630.4(RTTN):c.5330T>C (p.Phe1777Ser)	single nucleotide variant	Inborn genetic diseases [RCV003359385]	Chr18:70048182 [GRCh38] Chr18:67715418 [GRCh37] Chr18:18q22.2	uncertain significance
GRCh38/hg38 18q22.1-22.2(chr18:68865247-70895521)x1	copy number loss	See cases [RCV000137125]	Chr18:68865247..70895521 [GRCh38] Chr18:66532484..68562757 [GRCh37] Chr18:64683464..66713737 [NCBI36] Chr18:18q22.1-22.2	uncertain significance
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	copy number gain	See cases [RCV000137342]	Chr18:49199411..80254946 [GRCh38] Chr18:46725781..78012829 [GRCh37] Chr18:44979779..76113817 [NCBI36] Chr18:18q21.1-23	pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	copy number gain	See cases [RCV000138656]	Chr18:118760..80254946 [GRCh38] Chr18:118760..78012829 [GRCh37] Chr18:108760..76113817 [NCBI36] Chr18:18p11.32-q23	pathogenic\|conflicting data from submitters

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1549953	MULTSCL1_H	Multiple sclerosis susceptibility QTL 1 (human)	3.42		Multiple sclerosis susceptibility		18	64056270	80373285	Human

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


RefSeq Transcripts	NG_087282	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC011930	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068260	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Database	Acc Id	Source(s)
COSMIC	LOC126862785	COSMIC
GTEx	LOC126862785	GTEx
Human Proteome Map	LOC126862785	Human Proteome Map
NCBI Gene	LOC126862785	ENTREZGENE

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar