NM_000533.5(PLP1):c.453+4A>GRat Genome Database

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Variant : CV26135 (NM_000533.5(PLP1):c.453+4A>G) Homo sapiens

Symbol: CV26135
Name: NM_000533.5(PLP1):c.453+4A>G
RGD ID: 8562157
Condition: Pelizaeus-Merzbacher disease [RCV000011845]
Clinical Significance: pathogenic
Last Evaluated: 10/02/2013
Review Status: classified by 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, a-g, +4
Evidence: literature only
HGVS Name(s): NM_001128834.2:c.453+4A>G
NG_008863.2:g.15220A>G
NC_000023.11:g.103786730A>G
NC_000023.10:g.103041659A>G
NM_000533.4:c.453+4A>G
NM_001305004.1:c.288+4A>G
NM_199478.3:c.348+109A>G
NM_000533.5:c.453+4A>G
NG_016452.2:g.50553T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38X103,786,730 - 103,786,730CLINVAR
GRCh37X103,041,659 - 103,041,659CLINVAR
Cytogenetic MapXXq22.2CLINVAR
Trait Synonyms: LEUKODYSTROPHY, HYPOMYELINATING, 1; Pelizaeus Merzbacher brain sclerosis; Sudanophilic leukodystrophy
Age Of Onset: all ages|variable
Prevalence: 1-9 / 1 000 000



Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

References - curated
1. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:11071483  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011845 CLINVAR
dbSNP (RS) rs1569427707 CLINVAR
MedGen C0205711 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR
  312080 CLINVAR
OMIM Allele 300401.0024 CLINVAR
SNOMED CT 64855000 CLINVAR