NM_000533.5(PLP1):c.173A>G (p.Tyr58Cys)Rat Genome Database

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Variant : CV919966 (NM_000533.5(PLP1):c.173A>G (p.Tyr58Cys)) Homo sapiens

Symbol: CV919966
Name: NM_000533.5(PLP1):c.173A>G (p.Tyr58Cys)
RGD ID: 38459868
Condition: Pelizaeus-Merzbacher disease [RCV001196160]
Clinical Significance: pathogenic
Last Evaluated: 04/04/2019
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_000533.3:c.173A>G
NM_001128834.2:c.173A>G
NC_000023.11:g.103785750A>G
NP_001291933.1:p.Tyr3Cys
NP_000524.3:p.Tyr58Cys
NP_001122306.1:p.Tyr58Cys
NP_955772.1:p.Tyr58Cys
NM_000533.5:c.173A>G
NM_199478.3:c.173A>G
NM_001305004.1:c.8A>G
NG_008863.2:g.14240A>G
NG_016452.2:g.51533T>C
NC_000023.10:g.103040679A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38X103,785,750 - 103,785,750CLINVAR
GRCh37X103,040,679 - 103,040,679CLINVAR
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 RCV001196160 CLINVAR
MedGen C0205711 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR
  312080 CLINVAR
SNOMED CT 64855000 CLINVAR