NM_000533.5(PLP1):c.49G>A (p.Ala17Thr)Rat Genome Database

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Variant : CV208829 (NM_000533.5(PLP1):c.49G>A (p.Ala17Thr)) Homo sapiens

Symbol: CV208829
Name: NM_000533.5(PLP1):c.49G>A (p.Ala17Thr)
RGD ID: 10409009
Condition: Hereditary spastic paraplegia 2 [RCV001331308]|Pelizaeus-Merzbacher disease [RCV001197987]|not provided [RCV001311093]|not specified [RCV000192345]
Clinical Significance: uncertain significance
Last Evaluated: 04/01/2019
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.49G>A
NM_001305004.1:c.5-121G>A
NG_008863.2:g.14116G>A
NC_000023.11:g.103785626G>A
NC_000023.10:g.103040555G>A
NM_000533.3:c.49G>A
NP_000524.3:p.Ala17Thr
NP_001122306.1:p.Ala17Thr
NG_016452.2:g.51657C>T
NP_955772.1:p.Ala17Thr
NM_000533.5:c.49G>A
NM_199478.3:c.49G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X103,785,626 - 103,785,626CLINVAR
GRCh37X103,040,555 - 103,040,555CLINVAR
Cytogenetic MapXXq22.2CLINVAR
Trait Synonyms: AllHighlyPenetrant; LEUKODYSTROPHY, HYPOMYELINATING, 1; Pelizaeus Merzbacher brain sclerosis; SPASTIC PARAPLEGIA 2, X-LINKED; 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 RCV000192345 CLINVAR
  RCV001197987 CLINVAR
  RCV001311093 CLINVAR
  RCV001331308 CLINVAR
dbSNP (RS) rs797045890 CLINVAR
MedGen C0205711 CLINVAR
  C1839264 CLINVAR
  CN169374 CLINVAR
  CN517202 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR
  312080 CLINVAR
  312920 CLINVAR
SNOMED CT 64855000 CLINVAR