MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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: Hereditary Central Nervous System Demyelinating Diseases (D020279)
..Starting node ..Leukodystrophy, Hypomyelinating, 2 (C563855)
Child Nodes:
Sister Nodes:
..Adrenoleukodystrophy (D000326) 4
..Alexander Disease (D038261) 1
..Canavan Disease (D017825)
..Dysmyelination With Jaundice (C565610)
..Hypomyelination, Global Cerebral (C567847) L: 00107;
..Leukodystrophy, Dysmyelinating, with Oligodontia (C564344)
..Leukodystrophy, Globoid Cell (D007965) 1
..LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
..LEUKODYSTROPHY, HYPOMYELINATING, 11 (OMIM:616494)
..LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
..LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
..Leukodystrophy, Hypomyelinating, 2 (C563855)
..LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
..Leukodystrophy, Hypomyelinating, 4 (C567390) L: 00421;
..Leukodystrophy, Hypomyelinating, 5 (C567166)
..Leukodystrophy, Hypomyelinating, 6 (C567314)
..LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
..Leukodystrophy, Metachromatic (D007966) 5
..Megalencephalic leukoencephalopathy with subcortical cysts (C536141)
..Megalencephaly with Dysmyelination (C565408)
..Optic Atrophy with Demyelinating Disease of CNS (C563496)
..Pelizaeus-Merzbacher Disease (D020371) 1
..Vasculopathy, Retinal, With Cerebral Leukodystrophy (C566007)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

6993

Name:

Leukodystrophy, Hypomyelinating, 2

Definition:

Alternative IDs:

OMIM:608804

ParentIDs:

MESH:D020279

TreeNumbers:

C10.228.140.163.100.362/C563855 |C10.228.140.695.625/C563855 |C10.314.400/C563855 |C10.574.500.490/C563855 |C16.320.400.367/C563855 |C16.320.565.189.362/C563855 |C18.452.132.100.362/C563855 |C18.452.648.189.362/C563855

Synonyms:

HLD2 |Pelizaeus-Merzbacher-Like Disease, 1 |PMLD1

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: C563855
MeSH: C563855
OMIM: 608804;
MSeqDR :
Genes: DIP2B; GJC2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0001251	Ataxia
4	HP:0003487	Babinski sign
5	HP:0002059	Cerebral atrophy
6	HP:0006808	Cerebral hypomyelination
7	HP:0001266	Choreoathetosis
8	HP:0100543	Cognitive impairment NAMDC: Cognitive delay
9	HP:0003431	Decreased motor nerve conduction velocity
10	HP:0007220	Demyelinating motor neuropathy
11	HP:0001260	Dysarthria NAMDC: Dysarthria
12	HP:0001332	Dystonia NAMDC: Dystonia
13	HP:0010628	Facial palsy
14	HP:0001263	Global developmental delay NAMDC: Mental retardation
15	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
16	HP:0002599	Head titubation
17	HP:0002080	Intention tremor
18	HP:0002415	Leukodystrophy
19	HP:0001270	Motor delay
20	HP:0008936	Muscular hypotonia of the trunk
21	HP:0000545	Myopia
22	HP:0000648	Optic atrophy
23	HP:0002465	Poor speech
24	HP:0002191	Progressive spasticity
25	HP:0002063	Rigidity
26	HP:0001583	Rotary nystagmus
27	HP:0001250	Seizures NAMDC: Seizures
28	HP:0003390	Sensory axonal neuropathy
29	HP:0002313	Spastic paraparesis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000159.4(GCDH):c.1156C>T (p.Arg386Ter)	2639	GCDH	Pathogenic	rs752127949	RCV000224565\|RCV000778541\|RCV002222454;	N	MedGen:CN517202\|MONDO:MONDO:0009281,MedGen:C0268595,OMIM:231670, Orphanet:25\|MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	19	13008590	13008590	NC_000019.9:g.13008590C>T	ClinGen:CA9234621
NM_020435.3(GJC2):c.-170A>G	57165	GJC2	Uncertain significance	rs587777496	RCV000128464\|RCV001849914;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	1	228337558	228337558	1:g.228337558A>G	ClinGen:CA163276,OMIM:608803.0013	C1837355 608804 Leukodystrophy, hypomyelinating, 2;
NM_020435.3(GJC2):c.-167A>G	57165	GJC2	Pathogenic	rs587776888	RCV000023738\|RCV000633051\|RCV001781305;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN5172	1	228337561	228337561	1:g.228337561A>G	ClinGen:CA129449,OMIM:608803.0011	C1837355 608804 Leukodystrophy, hypomyelinating, 2;
NM_020435.4(GJC2):c.49dup (p.His17fs)	57165	GJC2	Likely pathogenic	rs2034704908	RCV001263436;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228345506	228345507	1:g.228345506_228345507insC	-
NM_020435.4(GJC2):c.62C>T (p.Thr21Ile)	57165	GJC2	Uncertain significance	rs2034705112	RCV001261524;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228345521	228345521	1:g.228345521C>T	-
NM_020435.4(GJC2):c.78del (p.Trp27fs)	57165	GJC2	Likely pathogenic	rs886039904	RCV000256421;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228345537	228345537	1:g.228345537_228345537del	ClinGen:CA10588985	C1837355 608804 Leukodystrophy, hypomyelinating, 2;
NM_020435.4(GJC2):c.118G>C (p.Ala40Pro)	57165	GJC2	Likely pathogenic	rs1302747902	RCV001249465;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228345577	228345577	228345577	-
NM_020435.4(GJC2):c.193_195del (p.Asn65del)	57165	GJC2	Uncertain significance	rs1558119525	RCV000785005\|RCV001263460;	N	MedGen:CN169374\|MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228345650	228345652	1:g.228345650_228345652del	-
NM_020435.4(GJC2):c.217C>A (p.Pro73Thr)	57165	GJC2	Conflicting interpretations of pathogenicity	rs1330596542	RCV000986561\|RCV002549670;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	1	228345676	228345676	1:g.228345676C>A	-
NM_020435.4(GJC2):c.219_220del (p.Leu74fs)	57165	GJC2	Pathogenic	-1	RCV001647229;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228345676	228345677	228345675	-
NM_020435.4(GJC2):c.254T>C (p.Val85Ala)	57165	GJC2	Likely pathogenic	-1	RCV001647230;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228345713	228345713	228345713	-
NM_020435.4(GJC2):c.268C>T (p.Pro90Ser)	57165	GJC2	Pathogenic	rs74315312	RCV000002153;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228345727	228345727	1:g.228345727C>T	ClinGen:CA115332,UniProtKB:Q5T442#VAR_023754,OMIM:608803.0002	C1837355 608804 Leukodystrophy, hypomyelinating, 2;
NM_020435.4(GJC2):c.293C>A (p.Ala98Asp)	57165	GJC2	Uncertain significance	-1	RCV002283998;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228345752	228345752	228345752	-
NM_020435.4(GJC2):c.302G>T (p.Arg101Leu)	57165	GJC2	Conflicting interpretations of pathogenicity	-1	RCV001647154\|RCV002298930\|RCV002546241;	N	Human Phenotype Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600, Orphanet:316226\|MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062	1	228345761	228345761	228345761	-
NM_020435.4(GJC2):c.371_392dup (p.His132fs)	57165	GJC2	Likely pathogenic	-1	RCV001824213;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228345828	228345829	228345828	-
NM_020435.4(GJC2):c.436_462del (p.Pro146_Glu154del)	57165	GJC2	Uncertain significance	rs779077705	RCV001213825\|RCV001535700;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282; MONDO:MONDO:0	1	228345879	228345905	1:g.228345879_228345905del	-
NM_020435.4(GJC2):c.445G>A (p.Gly149Ser)	57165	GJC2	Conflicting interpretations of pathogenicity	rs577325764	RCV000861248\|RCV000986562;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228345904	228345904	1:g.228345904G>A	-
NM_020435.4(GJC2):c.472_481dup (p.Ala161fs)	57165	GJC2	Pathogenic	-1	RCV002052015;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228345929	228345930	228345929	-
NM_020435.4(GJC2):c.575dup (p.Thr195fs)	57165	GJC2	Pathogenic	rs1064795865	RCV001261412;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228346030	228346031	228346030	-
NM_020435.4(GJC2):c.571_572insG (p.Thr191fs)	57165	GJC2	Uncertain significance	rs2034716505	RCV001260243;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228346030	228346031	1:g.228346030_228346031insG	-
NM_020435.4(GJC2):c.695_696insG (p.Tyr232Ter)	57165	GJC2	Pathogenic	rs796065029	RCV000002158;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228346154	228346155	NC_000001.10:g.228346154_228346155insG	ClinGen:CA212787,OMIM:608803.0007	C1837355 608804 Leukodystrophy, hypomyelinating, 2;
NM_020435.4(GJC2):c.718C>T (p.Arg240Ter)	57165	GJC2	Pathogenic	rs74315313	RCV000002155\|RCV001723533;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282\|MedGen:CN517202	1	228346177	228346177	1:g.228346177C>T	ClinGen:CA115333,OMIM:608803.0004	C1837355 608804 Leukodystrophy, hypomyelinating, 2;
NM_020435.4(GJC2):c.733T>A (p.Cys245Ser)	57165	GJC2	Likely pathogenic	rs1571908056	RCV001249464;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228346192	228346192	228346192	-
NM_020435.4(GJC2):c.755A>G (p.His252Arg)	57165	GJC2	Likely pathogenic	-1	RCV001824214;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228346214	228346214	228346214	-
NM_020435.4(GJC2):c.760G>A (p.Val254Met)	57165	GJC2	Likely pathogenic	-1	RCV001814360\|RCV001849194;	N	Human Phenotype Ontology:HP:0000707,Human Phenotype Ontology:HP:0001333,Human Phenotype Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552\|MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228346219	228346219	228346219	-
NM_020435.4(GJC2):c.768C>G (p.Cys256Trp)	57165	GJC2	Uncertain significance	rs1571908096	RCV000984491;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228346227	228346227	1:g.228346227C>G	-
NM_020435.4(GJC2):c.787G>A (p.Glu263Lys)	57165	GJC2	Pathogenic	rs397514734	RCV000054496;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228346246	228346246	1:g.228346246G>A	ClinGen:CA144622,OMIM:608803.0012	C1837355 608804 Leukodystrophy, hypomyelinating, 2;
NM_020435.4(GJC2):c.814T>G (p.Tyr272Asp)	57165	GJC2	Pathogenic	rs74315314	RCV000002156;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228346273	228346273	1:g.228346273T>G	ClinGen:CA115335,UniProtKB:Q5T442#VAR_023755,OMIM:608803.0005	C1837355 608804 Leukodystrophy, hypomyelinating, 2;
NM_020435.4(GJC2):c.857T>C (p.Met286Thr)	57165	GJC2	Pathogenic	rs74315311	RCV000002152\|RCV002287318;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282\|	1	228346316	228346316	1:g.228346316T>C	ClinGen:CA115331,UniProtKB:Q5T442#VAR_023756,OMIM:608803.0001	C1837355 608804 Leukodystrophy, hypomyelinating, 2;
NM_020435.4(GJC2):c.883C>T (p.Gln295Ter)	57165	GJC2	Likely pathogenic	rs1375875748	RCV001090093;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228346342	228346342	1:g.228346342C>T	-
NM_020435.4(GJC2):c.914_947del (p.Pro305fs)	57165	GJC2	Pathogenic	rs796065028	RCV000002157\|RCV001781168;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282\|MedGen:CN517202	1	228346360	228346393	NC_000001.10:g.228346373_228346406del	ClinGen:CA212786,OMIM:608803.0006	C1837355 608804 Leukodystrophy, hypomyelinating, 2;
NM_020435.4(GJC2):c.907_923del (p.Gly303fs)	57165	GJC2	Uncertain significance	rs1423370842	RCV001200941;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228346362	228346378	1:g.228346362_228346378del	-
NM_020435.4(GJC2):c.970_971dup (p.Ala325fs)	57165	GJC2	Pathogenic/Likely pathogenic	rs1085307499	RCV000489273\|RCV001814162\|RCV002250639;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0000707,Human Phenotype Ontology:HP:0001333,Human Phenotype Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552\|MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228346428	228346429	1:g.228346428_228346429insGC	ClinGen:CA645293932	CN517202 not provided;
NM_020435.4(GJC2):c.989del (p.Pro330fs)	57165	GJC2	Pathogenic	rs796065027	RCV000002154;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228346446	228346446	NC_000001.10:g.228346448del	ClinGen:CA212785,OMIM:608803.0003	C1837355 608804 Leukodystrophy, hypomyelinating, 2;
NM_020435.4(GJC2):c.1096dup (p.Asp366fs)	57165	GJC2	Uncertain significance	rs1391047082	RCV001260245;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228346551	228346552	1:g.228346551_228346552insG	-
NM_020435.4(GJC2):c.1134_1144del (p.Ala379fs)	57165	GJC2	Pathogenic/Likely pathogenic	rs1571908452	RCV000813174\|RCV000986563\|RCV001335054;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282\|MONDO:MONDO:0	1	228346584	228346594	1:g.228346584_228346594del	-
NM_020435.4(GJC2):c.1155del (p.Arg386fs)	57165	GJC2	Likely pathogenic	rs1196278287	RCV000986564;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228346609	228346609	1:g.228346609_228346609del	-
NM_020435.4(GJC2):c.1175C>G (p.Ser392Cys)	57165	GJC2	Likely pathogenic	rs1356633840	RCV000504277;	N	MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282	1	228346634	228346634	NC_000001.10:g.228346634C>G	ClinGen:CA345100703	C1837355 608804 Leukodystrophy, hypomyelinating, 2;
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr)	57165	GJC2	Uncertain significance	rs200334298	RCV000513690\|RCV000633030\|RCV000660454\|RCV000763840\|RCV001848882\|RCV002528231;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:2802	1	228346693	228346693	1:g.228346693C>T	ClinGen:CA1430971	C1837355 608804 Leukodystrophy, hypomyelinating, 2;
NM_004782.4(SNAP29):c.2T>C (p.Met1Thr)	9342	SNAP29	Pathogenic	rs886041240	RCV000280099\|RCV000454300\|RCV002251740;	N	MedGen:CN517202\|MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282\|MONDO:MONDO:0012290,MedGen:C1836033,OMIM:609528, Orphanet:66631	22	21213400	21213400	22:g.21213400T>C	ClinGen:CA10603380,OMIM:604202.0003	C1837355 608804 Leukodystrophy, hypomyelinating, 2;
NM_004782.4(SNAP29):c.354dup (p.Leu119fs)	9342	SNAP29	Conflicting interpretations of pathogenicity	rs751575036	RCV000280604\|RCV000454232\|RCV000778648\|RCV002519036;	N	MedGen:CN517202\|MONDO:MONDO:0012125,MedGen:C1837355,OMIM:608804, Orphanet:280270, Orphanet:280282\|MONDO:MONDO:0012290,MedGen:C1836033,OMIM:609528, Orphanet:66631\|MeSH:D030342,MedGen:C0950123	22	21224735	21224736	22:g.21224735_21224736insG	ClinGen:CA10117110,OMIM:604202.0004	C1837355 608804 Leukodystrophy, hypomyelinating, 2;

MSeqDR Portal

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