NM_000533.5(PLP1):c.-31C>TRat Genome Database

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Variant : CV222879 (NM_000533.5(PLP1):c.-31C>T) Homo sapiens

Symbol: CV222879
Name: NM_000533.5(PLP1):c.-31C>T
RGD ID: 10767416
Condition: Hereditary spastic paraplegia 2 [RCV000204678]|Pelizaeus-Merzbacher disease [RCV001258262]|not provided [RCV000514040]
Clinical Significance: benign|likely benign
Last Evaluated: 09/19/2017
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: PLP1   RAB9B  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing|research
HGVS Name(s): NM_001128834.2:c.-31C>T
NG_008863.2:g.5455C>T
NC_000023.11:g.103776965C>T
NC_000023.10:g.103031893C>T
NM_000533.3:c.-31C>T
NM_000533.5:c.-31C>T
NM_001305004.1:c.-31C>T
NM_199478.3:c.-31C>T
NG_016452.2:g.60318G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X103,776,965 - 103,776,965CLINVAR
GRCh37X103,031,893 - 103,031,893CLINVAR
Cytogenetic MapXXq22.2CLINVAR
Trait Synonyms: LEUKODYSTROPHY, HYPOMYELINATING, 1; Pelizaeus Merzbacher brain sclerosis; SPASTIC PARAPLEGIA 2, X-LINKED; Sudanophilic leukodystrophy
Age Of Onset: childhood
Prevalence: <1 / 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:8723686   PMID:25741868   PMID:26467025   PMID:27535533   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000204678 CLINVAR
  RCV000514040 CLINVAR
  RCV001258262 CLINVAR
dbSNP (RS) rs2233695 CLINVAR
MedGen C0205711 CLINVAR
  C1839264 CLINVAR
  CN517202 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR
  312080 CLINVAR
  312920 CLINVAR
SNOMED CT 64855000 CLINVAR