NM_000533.5(PLP1):c.617T>G (p.Met206Arg)Rat Genome Database

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Variant : CV488162 (NM_000533.5(PLP1):c.617T>G (p.Met206Arg)) Homo sapiens

Symbol: CV488162
Name: NM_000533.5(PLP1):c.617T>G (p.Met206Arg)
RGD ID: 13517551
Condition: Pelizaeus-Merzbacher disease [RCV000590967]
Clinical Significance: likely pathogenic
Last Evaluated: 11/21/2016
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_001128834.2:c.617T>G
NG_008863.2:g.16451T>G
NC_000023.10:g.103042890T>G
NM_001128834.1:c.617T>G
NC_000023.11:g.103787961T>G
NP_001122306.1:p.Met206Arg
NM_001305004.1:c.452T>G
NM_199478.3:c.512T>G
NM_000533.5:c.617T>G
NG_016452.2:g.49322A>C
NP_001291933.1:p.Met151Arg
NP_955772.1:p.Met171Arg
NP_000524.3:p.Met206Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh38X103,787,961 - 103,787,961CLINVAR
GRCh37X103,042,890 - 103,042,890CLINVAR
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 RCV000590967 CLINVAR
dbSNP (RS) rs1556269487 CLINVAR
MedGen C0205711 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR
  312080 CLINVAR
SNOMED CT 64855000 CLINVAR