NM_000533.5(PLP1):c.384_393del (p.Gln129fs)Rat Genome Database

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Variant : CV425233 (NM_000533.5(PLP1):c.384_393del (p.Gln129fs)) Homo sapiens

Symbol: CV425233
Name: NM_000533.5(PLP1):c.384_393del (p.Gln129fs)
RGD ID: 13610284
Condition: Pelizaeus-Merzbacher disease [RCV000655935]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: criteria provided, single submitter
Related Genes: PLP1   RAB9B  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: research
HGVS Name(s): NM_001305004.1:c.219_228del
NM_199478.3:c.348+36_348+45del
NM_001128834.1:c.384_393del
NM_000533.5:c.384_393del
NM_001128834.2:c.384_393del
NG_008863.2:g.15147_15156del
NG_016452.2:g.50617_50626del
NC_000023.11:g.103786657_103786666del
NC_000023.10:g.103041586_103041595del
NP_000524.3:p.Gln129fs
NP_001122306.1:p.Gln129fs
NP_001291933.1:p.Gln74fs
Position
Human AssemblyChrPosition (strand)Source
GRCh38X103,786,657 - 103,786,666CLINVAR
GRCh37X103,041,586 - 103,041,595CLINVAR
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:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000655935 CLINVAR
dbSNP (RS) rs1556267215 CLINVAR
MedGen C0205711 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR
  312080 CLINVAR
SNOMED CT 64855000 CLINVAR