NM_000533.5(PLP1):c.646C>T (p.Pro216Ser)Rat Genome Database

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Variant : CV26112 (NM_000533.5(PLP1):c.646C>T (p.Pro216Ser)) Homo sapiens

Symbol: CV26112
Name: NM_000533.5(PLP1):c.646C>T (p.Pro216Ser)
RGD ID: 8562134
Condition: Pelizaeus-Merzbacher disease [RCV000011822]|not provided [RCV000079100]
Clinical Significance: pathogenic
Last Evaluated: 10/02/2013
Review Status: classified by single submitter|criteria provided, 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: clinical testing|literature only
HGVS Name(s): NP_000524.3:p.Pro216Ser
NC_000023.11:g.103788460C>T
NC_000023.10:g.103043389C>T
NP_955772.1:p.Pro181Ser
NP_001122306.1:p.Pro216Ser
NM_001128834.2:c.646C>T
NG_008863.2:g.16950C>T
NM_000533.3:c.646C>T
P60201:p.Pro216Ser
NM_001305004.1:c.481C>T
NM_199478.3:c.541C>T
NM_000533.5:c.646C>T
NG_016452.2:g.48823G>A
NP_001291933.1:p.Pro161Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh38X103,788,460 - 103,788,460CLINVAR
GRCh37X103,043,389 - 103,043,389CLINVAR
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:2773936  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011822 CLINVAR
  RCV000079100 CLINVAR
dbSNP (RS) rs132630278 CLINVAR
MedGen C0205711 CLINVAR
  CN517202 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR
  312080 CLINVAR
OMIM Allele 300401.0001 CLINVAR
SNOMED CT 64855000 CLINVAR