NM_000533.5(PLP1):c.544A>C (p.Thr182Pro)Rat Genome Database

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Variant : CV26118 (NM_000533.5(PLP1):c.544A>C (p.Thr182Pro)) Homo sapiens

Symbol: CV26118
Name: NM_000533.5(PLP1):c.544A>C (p.Thr182Pro)
RGD ID: 8562140
Condition: Pelizaeus-Merzbacher disease [RCV000011828]
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:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only
HGVS Name(s): NC_000023.11:g.103787888A>C
NC_000023.10:g.103042817A>C
NP_955772.1:p.Thr147Pro
NP_001122306.1:p.Thr182Pro
NP_000524.3:p.Thr182Pro
NM_001128834.2:c.544A>C
NG_008863.2:g.16378A>C
NM_001305004.1:c.379A>C
P60201:p.Thr182Pro
NM_199478.3:c.439A>C
NM_000533.5:c.544A>C
NG_016452.2:g.49395T>G
NP_001291933.1:p.Thr127Pro
Position
Human AssemblyChrPosition (strand)Source
GRCh38X103,787,888 - 103,787,888CLINVAR
GRCh37X103,042,817 - 103,042,817CLINVAR
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:1384324  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011828 CLINVAR
dbSNP (RS) rs132630282 CLINVAR
MedGen C0205711 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR
  312080 CLINVAR
OMIM Allele 300401.0007 CLINVAR
SNOMED CT 64855000 CLINVAR