NM_000533.5(PLP1):c.175G>T (p.Glu59Ter)Rat Genome Database

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Variant : CV384416 (NM_000533.5(PLP1):c.175G>T (p.Glu59Ter)) Homo sapiens

Symbol: CV384416
Name: NM_000533.5(PLP1):c.175G>T (p.Glu59Ter)
RGD ID: 12854202
Condition: Pelizaeus-Merzbacher disease [RCV000449517]
Clinical Significance: pathogenic
Last Evaluated: 07/11/2016
Review Status: criteria provided, single submitter
Related Genes: PLP1   RAB9B  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NM_001128834.2:c.175G>T
NG_008863.2:g.14242G>T
NC_000023.11:g.103785752G>T
NC_000023.10:g.103040681G>T
p.Glu59*
NP_000524.3:p.Glu59Ter
NP_001122306.1:p.Glu59Ter
NM_199478.3:c.175G>T
NG_016452.2:g.51531C>A
NM_000533.4:c.175G>T
NP_001291933.1:p.Glu4Ter
NP_955772.1:p.Glu59Ter
NM_001305004.1:c.10G>T
NM_000533.5:c.175G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X103,785,752 - 103,785,752CLINVAR
GRCh37X103,040,681 - 103,040,681CLINVAR
Cytogenetic MapXXq22.2CLINVAR
Trait Synonyms: LEUKODYSTROPHY, HYPOMYELINATING, 1; Pelizaeus Merzbacher brain sclerosis; Sudanophilic leukodystrophy
Age Of Onset: all ages
Prevalence: 1-9 / 1 000 000



Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000449517 CLINVAR
dbSNP (RS) rs1060499653 CLINVAR
MedGen C0205711 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR
  312080 CLINVAR
SNOMED CT 64855000 CLINVAR