NM_000533.5(PLP1):c.453+164G>ARat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant : CV804912 (NM_000533.5(PLP1):c.453+164G>A) Homo sapiens

Symbol: CV804912
Name: NM_000533.5(PLP1):c.453+164G>A
RGD ID: 25316887
Condition: Pelizaeus-Merzbacher disease [RCV001007650]
Clinical Significance: pathogenic
Last Evaluated: 12/11/2019
Review Status: no assertion criteria provided
Related Genes: PLP1   RAB9B  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: literature only
HGVS Name(s): NC_000023.11:g.103786890G>A
NM_000533.4:c.453+164G>A
NM_000533.5:c.453+164G>A
NM_199478.3:c.348+269G>A
NM_001128834.2:c.453+164G>A
NG_008863.2:g.15380G>A
NG_016452.2:g.50393C>T
NC_000023.10:g.103041819G>A
NM_001305004.1:c.288+164G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X103,786,890 - 103,786,890CLINVAR
GRCh37X103,041,819 - 103,041,819CLINVAR
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:20301361   PMID:26125040  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001007650 CLINVAR
dbSNP (RS) rs1602383268 CLINVAR
MedGen C0205711 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR
  312080 CLINVAR
SNOMED CT 64855000 CLINVAR