MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Hello! Guest! Please Login or Register! Clinician Mode

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: Osteoporosis (D010024)
Parent Node: Osteoporotic Fractures (D058866)
..Starting node ..BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18 (OMIM:300910)
Child Nodes:
Sister Nodes:
..BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12 (OMIM:612560)
..BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17 (OMIM:615311)
..BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18 (OMIM:300910)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

1475

Name:

BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18

Definition:

Alternative IDs:

ParentIDs:

MESH:D010024|MESH:D058866

TreeNumbers:

C05.116.198.579/300910 |C18.452.104.579/300910 |C26.404.545/300910

Synonyms:

BMND18 |OSTEOPOROSIS AND OSTEOPOROTIC FRACTURES, SUSCEPTIBILITY TO

Slim Mappings:

Metabolic disease|Musculoskeletal disease|Wounds and injuries

Reference:

MedGen: 300910
MeSH: 300910
OMIM: 300910;
MSeqDR :
Genes: PLS3;

Phenotypes

1	HP:0001423	X-linked dominant inheritance
2	HP:0000938	Osteopenia
3	HP:0000939	Osteoporosis
4	HP:0002953	Vertebral compression fractures

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
GRCh37/hg19 Xq23(chrX:113097589-114931342)	-1	MIR448;PLS3;HTR2C;IL13RA2;LRCH2;RBMXL3;LUZP4	Pathogenic	-1	RCV000767804;	N	MedGen:C3806712,OMIM:300910, Orphanet:391330	X	113097589	114931342		-
NC_000023.10:g.(113050826_113097589)_(114931342_114941807)del	-1	MIR448;PLS3;RBMXL3;HTR2C;IL13RA2;LRCH2;LUZP4	Pathogenic	-1	RCV000191154;	N	MedGen:C3806712,OMIM:300910, Orphanet:391330	X	113050826	114941807		-	C3806712 300910 Bone mineral density quantitative trait locus 18;
NM_005032.7(PLS3):c.216_219del (p.Ser73fs)	5358	PLS3	Pathogenic	2074664927	RCV001254100;	N	MedGen:C3806712,OMIM:300910, Orphanet:391330	X	114856699	114856702	X:g.114856699_114856702del	-
NM_005032.7(PLS3):c.234_237+10del	5358	PLS3	Likely pathogenic	781875935	RCV002025485\|RCV003147730;	N	MedGen:C3661900\|MedGen:C3806712,OMIM:300910, Orphanet:391330	X	114856715	114856728	114856714	-
NM_005032.7(PLS3):c.235del (p.Tyr79fs)	5358	PLS3	association	397518463	RCV000074379;	N	MedGen:C3806712,OMIM:300910, Orphanet:391330	X	114856717	114856717	X:g.114856717_114856717del	ClinGen:CA145304,OMIM:300131.0001	C3806712 300910 Bone mineral density quantitative trait locus 18;
NM_005032.7(PLS3):c.256del (p.Ser86fs)	5358	PLS3	Pathogenic	1135402748	RCV000496987;	N	MedGen:C3806712,OMIM:300910, Orphanet:391330	X	114863524	114863524	X:g.114863524_114863524del	ClinGen:CA645372692	C3806712 300910 Bone mineral density quantitative trait locus 18;
NM_005032.7(PLS3):c.321T>A (p.Gly107=)	5358	PLS3	Benign	140121121	RCV000074381\|RCV000607293\|RCV002054923\|RCV002277139;	N	MedGen:C3806712,OMIM:300910, Orphanet:391330\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	X	114863593	114863593	X:g.114863593T>A	ClinGen:CA145308,OMIM:300131.0003	C3806712 300910 Bone mineral density quantitative trait locus 18;
NM_005032.7(PLS3):c.347G>A (p.Gly116Glu)	5358	PLS3	Uncertain significance	2147533013	RCV002272966\|RCV003096144;	N	MedGen:C3806712,OMIM:300910, Orphanet:391330\|MedGen:C3661900	X	114863619	114863619	114863619	-
NM_005032.7(PLS3):c.359C>T (p.Ser120Phe)	5358	PLS3	Uncertain significance	-1	RCV002287265;	N	MedGen:C3806712,OMIM:300910, Orphanet:391330	X	114863631	114863631	114863631	-
NM_005032.7(PLS3):c.367+2T>C	5358	PLS3	Likely pathogenic	2147533064	RCV002251141;	N	MedGen:C3806712,OMIM:300910, Orphanet:391330	X	114863641	114863641	114863641	-
NM_005032.7(PLS3):c.501-1G>A	5358	PLS3	Likely pathogenic	781935919	RCV002250943;	N	MedGen:C3806712,OMIM:300910, Orphanet:391330	X	114868311	114868311	114868311	-
NM_005032.7(PLS3):c.514del (p.Leu172fs)	5358	PLS3	Likely pathogenic	1603241972	RCV000990931;	N	MedGen:C3806712,OMIM:300910, Orphanet:391330	X	114868324	114868324	X:g.114868324_114868324del	-
NM_005032.7(PLS3):c.583-3C>A	5358	PLS3	Conflicting interpretations of pathogenicity	2147551714	RCV001900206\|RCV002509710;	N	MedGen:C3661900\|MedGen:C3806712,OMIM:300910, Orphanet:391330	X	114869190	114869190	114869190	-
NM_005032.7(PLS3):c.892-254T>C	5358	PLS3	Likely benign	782587498	RCV001802649;	N	MedGen:C3806712,OMIM:300910, Orphanet:391330	X	114874466	114874466	114874466	-
NM_005032.7(PLS3):c.1290dup (p.Gln431fs)	5358	PLS3	Pathogenic/Likely pathogenic	2147585558	RCV001866677\|RCV003132560;	N	MedGen:C3661900\|MedGen:C3806712,OMIM:300910, Orphanet:391330	X	114880418	114880419	114880418	-
NM_005032.7(PLS3):c.1471C>T (p.Gln491Ter)	5358	PLS3	association	397518421	RCV000074380;	N	MedGen:C3806712,OMIM:300910, Orphanet:391330	X	114880815	114880815	X:g.114880815C>T	ClinGen:CA145305,OMIM:300131.0002	C3806712 300910 Bone mineral density quantitative trait locus 18;

MSeqDR Portal

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