NM_000533.5(PLP1):c.453+2T>CRat Genome Database

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Variant : CV495615 (NM_000533.5(PLP1):c.453+2T>C) Homo sapiens

Symbol: CV495615
Name: NM_000533.5(PLP1):c.453+2T>C
RGD ID: 13520546
Condition: Pelizaeus-Merzbacher disease [RCV000011844]|not provided [RCV000598719]
Clinical Significance: pathogenic
Last Evaluated: 08/31/2018
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: PLP1   RAB9B  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Nucleotide Change: ivs3ds, t-c, +2
Evidence: clinical testing|literature only
HGVS Name(s): NM_001128834.2:c.453+2T>C
NG_008863.2:g.15218T>C
NC_000023.11:g.103786728T>C
NC_000023.10:g.103041657T>C
NM_000533.3:c.453+2T>C
NM_001305004.1:c.288+2T>C
NM_199478.3:c.348+107T>C
NM_000533.5:c.453+2T>C
NG_016452.2:g.50555A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38X103,786,728 - 103,786,728CLINVAR
GRCh37X103,041,657 - 103,041,657CLINVAR
Cytogenetic MapXXq22.2CLINVAR
Trait Synonyms: LEUKODYSTROPHY, HYPOMYELINATING, 1; Pelizaeus Merzbacher brain sclerosis; Sudanophilic leukodystrophy



Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Additional References at PubMed
PMID:11071483  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011844 CLINVAR
  RCV000598719 CLINVAR
dbSNP (RS) rs1556267388 CLINVAR
MedGen C0205711 CLINVAR
  CN517202 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR
  312080 CLINVAR
OMIM Allele 300401.0023 CLINVAR
SNOMED CT 64855000 CLINVAR