NM_000533.5(PLP1):c.1A>G (p.Met1Val)Rat Genome Database

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Variant : CV205797 (NM_000533.5(PLP1):c.1A>G (p.Met1Val)) Homo sapiens

Symbol: CV205797
Name: NM_000533.5(PLP1):c.1A>G (p.Met1Val)
RGD ID: 10408987
Condition: Pelizaeus-Merzbacher disease [RCV000191119]
Clinical Significance: pathogenic
Last Evaluated: 09/23/2014
Review Status: criteria provided, single submitter
Related Genes: PLP1   RAB9B  
Variant Type: single nucleotide variant (SO:0001582)
Source: CLINVAR
Molecular Consequence: initiatior codon variant|missense variant
Evidence: clinical testing
HGVS Name(s): NM_001128834.2:c.1A>G
NG_008863.2:g.5486A>G
NC_000023.11:g.103776996A>G
NC_000023.10:g.103031924A>G
NM_000533.3:c.1A>G
NP_000524.3:p.Met1Val
NP_001122306.1:p.Met1Val
NM_000533.5:c.1A>G
NM_001305004.1:c.1A>G
NM_199478.3:c.1A>G
NG_016452.2:g.60287T>C
NP_001291933.1:p.Met1Val
NP_955772.1:p.Met1Val
Position
Human AssemblyChrPosition (strand)Source
GRCh38X103,776,996 - 103,776,996CLINVAR
GRCh37X103,031,924 - 103,031,924CLINVAR
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

References - curated
1. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:12910435   PMID:24088041   PMID:26633545  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000191119 CLINVAR
dbSNP (RS) rs797045064 CLINVAR
MedGen C0205711 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR
  312080 CLINVAR
SNOMED CT 64855000 CLINVAR