NM_000533.5(PLP1):c.166C>T (p.Gln56Ter)Rat Genome Database

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Variant : CV552239 (NM_000533.5(PLP1):c.166C>T (p.Gln56Ter)) Homo sapiens

Symbol: CV552239
Name: NM_000533.5(PLP1):c.166C>T (p.Gln56Ter)
RGD ID: 13794641
Condition: Pelizaeus-Merzbacher disease [RCV000680072]
Clinical Significance: pathogenic
Last Evaluated: 09/01/2017
Review Status: criteria provided, single submitter
Related Genes: PLP1   RAB9B  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_199478.3:c.166C>T
NG_016452.2:g.51540G>A
NC_000023.11:g.103785743C>T
NC_000023.10:g.103040672C>T
NP_000524.3:p.Gln56Ter
NM_001128834.2:c.166C>T
NM_001305004.1:c.5-4C>T
NP_001122306.1:p.Gln56Ter
NG_008863.2:g.14233C>T
NM_000533.5:c.166C>T
NM_000533.4:c.166C>T
NP_955772.1:p.Gln56Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh38X103,785,743 - 103,785,743CLINVAR
GRCh37X103,040,672 - 103,040,672CLINVAR
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:25326635   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000680072 CLINVAR
dbSNP (RS) rs1569427311 CLINVAR
MedGen C0205711 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR
  312080 CLINVAR
SNOMED CT 64855000 CLINVAR