NM_000533.5(PLP1):c.518C>G (p.Pro173Arg)Rat Genome Database

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Variant : CV538274 (NM_000533.5(PLP1):c.518C>G (p.Pro173Arg)) Homo sapiens

Symbol: CV538274
Name: NM_000533.5(PLP1):c.518C>G (p.Pro173Arg)
RGD ID: 13704026
Condition: Pelizaeus-Merzbacher disease [RCV000660227]
Clinical Significance: uncertain significance
Last Evaluated: 11/01/2016
Review Status: criteria provided, single submitter
Related Genes: PLP1   RAB9B  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_000533.5:c.518C>G
NG_008863.2:g.16352C>G
NC_000023.11:g.103787862C>G
NC_000023.10:g.103042791C>G
NP_000524.3:p.Pro173Arg
NP_001122306.1:p.Pro173Arg
NM_001128834.2:c.518C>G
NM_001305004.1:c.353C>G
NP_955772.1:p.Pro138Arg
NM_199478.3:c.413C>G
NG_016452.2:g.49421G>C
NM_000533.4:c.518C>G
NP_001291933.1:p.Pro118Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh38X103,787,862 - 103,787,862CLINVAR
GRCh37X103,042,791 - 103,042,791CLINVAR
Cytogenetic MapXXq22.2CLINVAR
Trait Synonyms: LEUKODYSTROPHY, HYPOMYELINATING, 1; Pelizaeus Merzbacher brain sclerosis; Sudanophilic leukodystrophy



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 RCV000660227 CLINVAR
dbSNP (RS) rs1556269029 CLINVAR
MedGen C0205711 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR
  312080 CLINVAR
SNOMED CT 64855000 CLINVAR