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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Mitochondrial Myopathies (D017240)
..Starting node ..MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Child Nodes:
Sister Nodes:
..Combined Oxidative Phosphorylation Deficiency 3 (C566467) L: 00097;
..Mitochondrial cytopathy (C540770)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084) L: 00027;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT (OMIM:617184) L: 00527;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418) L: 00028;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471) L: 00029;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896) L: 00505;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156) L: 00506;
..Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624)
..Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive (C567608)
..Mitochondrial Encephalomyopathies (D017237) 13 C:10
..Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport (C565376)
..Mitochondrial Myopathy with Diabetes (C564026)
..Mitochondrial myopathy with lactic acidosis (C537476) L: 00408;
..MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (OMIM:616209) L: 00509;
..Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay (C567769) L: 00045;
..Myopathy, Mitochondrial, Lethal Infantile (C564017) L: 00172;
..Neuropathy ataxia and retinitis pigmentosa (C537396) L: 00168;
..Ophthalmoplegia, Chronic Progressive External (D017246) 7 C:5
..Trifunctional Protein Deficiency With Myopathy And Neuropathy (C566945) L: 00417;
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

8094

Name:

MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE

Definition:

Alternative IDs:

DO:DOID:0080335

ParentIDs:

MESH:D017240

TreeNumbers:

C05.651.460/615418 |C10.668.491.500/615418 |C18.452.660.560/615418

Synonyms:

MTDPS12B

Slim Mappings:

Metabolic disease|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: 615418
MeSH: 615418
OMIM: 615418;
MSeqDR : 00028;
Genes: GP1BA; SLC25A4;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000518	Cataract NAMDC: Cataracts	HP:0040283
3	HP:0100543	Cognitive impairment NAMDC: Cognitive delay	HP:0040283
4	HP:0003546	Exercise intolerance NAMDC: Exercise intolerance
5	HP:0001639	Hypertrophic cardiomyopathy NAMDC: Hypertrophic cardomyopathy
6	HP:0003128	Lactic acidosis
7	HP:0001324	Muscle weakness NAMDC: Muscle weakness: diffuse	HP:0040283
8	HP:0003326	Myalgia
9	HP:0001513	Obesity	HP:0040283
10	HP:0003202	Skeletal muscle atrophy	HP:0040283
11	HP:0003677	Slow progression

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001151.4(SLC25A4):c.-65C>T	291	SLC25A4	Uncertain significance	1003618782	RCV001148285\|RCV002491434;	N	MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283\|MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283; MONDO:MONDO:0014959,MedGen:C4310676,OMIM:617184; MONDO:MONDO:0014175,MedGen:C3809443,OMIM:615418, Orphanet:1369	4	186064462	186064462	4:g.186064462C>T	-
NM_001151.4(SLC25A4):c.111+1G>A	291	SLC25A4	Pathogenic	398122942	RCV000056253;	N	MONDO:MONDO:0014175,MedGen:C3809443,OMIM:615418, Orphanet:1369	4	186064638	186064638	4:g.186064638G>A	ClinGen:CA144815,OMIM:103220.0006	C3809443 615418 Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive;
NM_001151.4(SLC25A4):c.116_137del (p.Gln39fs)	291	SLC25A4	Pathogenic	886041080	RCV000258875;	N	MONDO:MONDO:0014175,MedGen:C3809443,OMIM:615418, Orphanet:1369	4	186065922	186065943	NC_000004.11:g.186065922_186065943del	ClinGen:CA10602682,OMIM:103220.0007	C3809443 615418 Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive;
NM_001151.4(SLC25A4):c.252C>T (p.Thr84=)	291	SLC25A4	Likely benign	145413043	RCV000874292\|RCV002501328;	N	MedGen:C3661900\|MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283; MONDO:MONDO:0014959,MedGen:C4310676,OMIM:617184; MONDO:MONDO:0014175,MedGen:C3809443,OMIM:615418, Orphanet:1369	4	186066058	186066058	4:g.186066058C>T	-
NM_001151.4(SLC25A4):c.331C>A (p.Arg111Ser)	291	SLC25A4	Uncertain significance	375543860	RCV001774052\|RCV002477948;	N	MedGen:C3661900\|MONDO:MONDO:0014175,MedGen:C3809443,OMIM:615418, Orphanet:1369; MONDO:MONDO:0014959,MedGen:C4310676,OMIM:617184; MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283	4	186066137	186066137	186066137	-
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp)	291	SLC25A4	Conflicting interpretations of pathogenicity	121912683	RCV000019911\|RCV000414338\|RCV000626769\|RCV000626767\|RCV000626768\|RCV001198599;	N	MONDO:MONDO:0014175,MedGen:C3809443,OMIM:615418, Orphanet:1369\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569; Human Phenotype Ontology:HP:0200125,MedGen:C2751582; Human Phenotype Ontolo	4	186066174	186066174	4:g.186066174C>A	ClinGen:CA127988,UniProtKB:P12235#VAR_038815,OMIM:103220.0005	C4021734 Abnormality of mitochondrial metabolism;
NM_001151.4(SLC25A4):c.515G>T (p.Gly172Val)	291	SLC25A4	Uncertain significance	1560841935	RCV000681637\|RCV001868308;	N	MONDO:MONDO:0014175,MedGen:C3809443,OMIM:615418, Orphanet:1369\|MedGen:CN517202	4	186066321	186066321	NC_000004.11:g.186066321G>T	-	C3809443 615418 Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive;
NM_001151.4(SLC25A4):c.523del (p.Gln175fs)	291	SLC25A4	Pathogenic	863224209	RCV000196453\|RCV003323449;	N	MedGen:CN517202\|MONDO:MONDO:0014175,MedGen:C3809443,OMIM:615418, Orphanet:1369	4	186066328	186066328	NC_000004.11:g.186066329del	ClinGen:CA320865	CN517202 not provided;
NM_001151.4(SLC25A4):c.706C>T (p.Arg236Cys)	291	SLC25A4	Uncertain significance	-1	RCV003457215;	N	MONDO:MONDO:0014175,MedGen:C3809443,OMIM:615418, Orphanet:1369	4	186067020	186067020		-
NM_001151.4(SLC25A4):c.707G>C (p.Arg236Pro)	291	SLC25A4	Pathogenic	770816416	RCV000258878;	N	MONDO:MONDO:0014175,MedGen:C3809443,OMIM:615418, Orphanet:1369	4	186067021	186067021	NC_000004.11:g.186067021G>C	ClinGen:CA10602683,OMIM:103220.0008	C3809443 615418 Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive;
NM_001151.4(SLC25A4):c.755C>T (p.Thr252Met)	291	SLC25A4	Uncertain significance	753197100	RCV000200332\|RCV002503774;	N	MedGen:CN517202\|MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283; MONDO:MONDO:0014959,MedGen:C4310676,OMIM:617184; MONDO:MONDO:0014175,MedGen:C3809443,OMIM:615418, Orphanet:1369	4	186067983	186067983	NC_000004.11:g.186067983C>T	ClinGen:CA324890	CN169374 not specified;
NM_001151.4(SLC25A4):c.*151T>C	291	SLC25A4	Uncertain significance	373871091	RCV001145511\|RCV002505720;	N	MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283\|MONDO:MONDO:0014959,MedGen:C4310676,OMIM:617184; MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283; MONDO:MONDO:0014175,MedGen:C3809443,OMIM:615418, Orphanet:1369	4	186068276	186068276	4:g.186068276T>C	-
NM_001151.4(SLC25A4):c.*824C>T	291	SLC25A4	Uncertain significance	779103031	RCV000380230\|RCV002488765;	N	MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283\|MONDO:MONDO:0014959,MedGen:C4310676,OMIM:617184; MONDO:MONDO:0014175,MedGen:C3809443,OMIM:615418, Orphanet:1369; MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283	4	186068949	186068949	NC_000004.11:g.186068949C>T	ClinGen:CA10620619	CN239267 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;
NM_001151.4(SLC25A4):c.*994G>A	291	SLC25A4	Uncertain significance	901529350	RCV001147467\|RCV002497566;	N	MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283\|MONDO:MONDO:0014175,MedGen:C3809443,OMIM:615418, Orphanet:1369; MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283; MONDO:MONDO:0014959,MedGen:C4310676,OMIM:617184	4	186069119	186069119	4:g.186069119G>A	-
NM_001151.4(SLC25A4):c.*1163G>T	291	SLC25A4	Uncertain significance	886059272	RCV000386998\|RCV002487531;	N	MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283\|MONDO:MONDO:0014959,MedGen:C4310676,OMIM:617184; MONDO:MONDO:0014175,MedGen:C3809443,OMIM:615418, Orphanet:1369; MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283	4	186069288	186069288	NC_000004.11:g.186069288G>T	ClinGen:CA10617480	CN239267 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;
NM_001151.4(SLC25A4):c.*2475C>T	291	SLC25A4	Uncertain significance	192241746	RCV001149957\|RCV002483882;	N	MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283\|MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283; MONDO:MONDO:0014959,MedGen:C4310676,OMIM:617184; MONDO:MONDO:0014175,MedGen:C3809443,OMIM:615418, Orphanet:1369	4	186070600	186070600	4:g.186070600C>T	-
NM_001151.4(SLC25A4):c.*2592C>T	291	SLC25A4	Uncertain significance	575736094	RCV000315855\|RCV002480213;	N	MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283\|MONDO:MONDO:0014959,MedGen:C4310676,OMIM:617184; MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283; MONDO:MONDO:0014175,MedGen:C3809443,OMIM:615418, Orphanet:1369	4	186070717	186070717	NC_000004.11:g.186070717C>T	ClinGen:CA10620576	CN239267 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;
NM_001151.4(SLC25A4):c.*2616C>T	291	SLC25A4	Uncertain significance	769378373	RCV001145621\|RCV002497563;	N	MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283\|MONDO:MONDO:0014959,MedGen:C4310676,OMIM:617184; MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283; MONDO:MONDO:0014175,MedGen:C3809443,OMIM:615418, Orphanet:1369	4	186070741	186070741	4:g.186070741C>T	-
NM_001151.4(SLC25A4):c.*2824G>C	291	SLC25A4	Uncertain significance	371093501	RCV000389531\|RCV002480214;	N	MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283\|MONDO:MONDO:0014959,MedGen:C4310676,OMIM:617184; MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283; MONDO:MONDO:0014175,MedGen:C3809443,OMIM:615418, Orphanet:1369	4	186070949	186070949	4:g.186070949G>C	ClinGen:CA10620579	CN239267 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;
NM_001151.4(SLC25A4):c.*3195T>C	291	SLC25A4	Uncertain significance	182549219	RCV001148503\|RCV002483875;	N	MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283\|MONDO:MONDO:0014175,MedGen:C3809443,OMIM:615418, Orphanet:1369; MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283; MONDO:MONDO:0014959,MedGen:C4310676,OMIM:617184	4	186071320	186071320	4:g.186071320T>C	-
NM_001151.4(SLC25A4):c.*3229A>G	291	SLC25A4	Uncertain significance	962471297	RCV001148504\|RCV002480544;	N	MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283\|MONDO:MONDO:0014175,MedGen:C3809443,OMIM:615418, Orphanet:1369; MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283; MONDO:MONDO:0014959,MedGen:C4310676,OMIM:617184	4	186071354	186071354	4:g.186071354A>G	-
NM_001151.4(SLC25A4):c.*3276C>T	291	SLC25A4	Uncertain significance	187103619	RCV000291622\|RCV002487532;	N	MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283\|MONDO:MONDO:0014959,MedGen:C4310676,OMIM:617184; MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283; MONDO:MONDO:0014175,MedGen:C3809443,OMIM:615418, Orphanet:1369	4	186071401	186071401	4:g.186071401C>T	ClinGen:CA10618387	CN239267 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;
NM_001151.4(SLC25A4):c.*3277G>A	291	SLC25A4	Uncertain significance	886059277	RCV000346961\|RCV002502341;	N	MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283\|MONDO:MONDO:0014959,MedGen:C4310676,OMIM:617184; MONDO:MONDO:0014175,MedGen:C3809443,OMIM:615418, Orphanet:1369; MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283	4	186071402	186071402	4:g.186071402G>A	ClinGen:CA10620645	CN239267 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;
NM_001151.4(SLC25A4):c.*3317G>A	291	SLC25A4	Uncertain significance	752130203	RCV001148506\|RCV002497567;	N	MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283\|MONDO:MONDO:0014175,MedGen:C3809443,OMIM:615418, Orphanet:1369; MONDO:MONDO:0012238,MedGen:C1836460,OMIM:609283; MONDO:MONDO:0014959,MedGen:C4310676,OMIM:617184	4	186071442	186071442	4:g.186071442G>A	-

MSeqDR Portal

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Description	Disease id
ENSG00000151729	SLC25A4	1	2	24	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 [Source:HGNC Symbol;Acc:10990]	00028

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