NM_000533.5(PLP1):c.140T>C (p.Ile47Thr)Rat Genome Database

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Variant : CV404041 (NM_000533.5(PLP1):c.140T>C (p.Ile47Thr)) Homo sapiens

Symbol: CV404041
Name: NM_000533.5(PLP1):c.140T>C (p.Ile47Thr)
RGD ID: 12884240
Condition: Hereditary spastic paraplegia 2 [RCV000463096]|Pelizaeus-Merzbacher disease [RCV000681649]
Clinical Significance: likely pathogenic
Last Evaluated: 06/06/2018
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_001128834.2:c.140T>C
NM_001305004.1:c.5-30T>C
NG_008863.2:g.14207T>C
NC_000023.11:g.103785717T>C
NC_000023.10:g.103040646T>C
NP_000524.3:p.Ile47Thr
NP_001122306.1:p.Ile47Thr
NG_016452.2:g.51566A>G
NM_000533.4:c.140T>C
NP_955772.1:p.Ile47Thr
NM_000533.5:c.140T>C
NM_199478.3:c.140T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38X103,785,717 - 103,785,717CLINVAR
GRCh37X103,040,646 - 103,040,646CLINVAR
Cytogenetic MapXXq22.2CLINVAR
Trait Synonyms: Hereditary spastic paraplegia 2; LEUKODYSTROPHY, HYPOMYELINATING, 1; Pelizaeus Merzbacher brain sclerosis; Spastic paraplegia 2; 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
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000463096 CLINVAR
  RCV000681649 CLINVAR
dbSNP (RS) rs1060500909 CLINVAR
MedGen C0205711 CLINVAR
  C1839264 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR
  312080 CLINVAR
  312920 CLINVAR
SNOMED CT 64855000 CLINVAR