NM_000533.5(PLP1):c.295C>T (p.Gln99Ter)Rat Genome Database

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Variant : CV792104 (NM_000533.5(PLP1):c.295C>T (p.Gln99Ter)) Homo sapiens

Symbol: CV792104
Name: NM_000533.5(PLP1):c.295C>T (p.Gln99Ter)
RGD ID: 21073790
Condition: Pelizaeus-Merzbacher disease [RCV000990921]
Clinical Significance: pathogenic
Last Evaluated: 05/28/2019
Review Status: criteria provided, single submitter
Related Genes: PLP1   RAB9B  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NM_001305004.1:c.130C>T
NM_000533.5:c.295C>T
NG_008863.2:g.15058C>T
NC_000023.11:g.103786568C>T
NC_000023.10:g.103041497C>T
NP_001291933.1:p.Gln44Ter
NP_000524.3:p.Gln99Ter
NP_001122306.1:p.Gln99Ter
NP_955772.1:p.Gln99Ter
NM_001128834.2:c.295C>T
NM_199478.3:c.295C>T
NG_016452.2:g.50715G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X103,786,568 - 103,786,568CLINVAR
GRCh37X103,041,497 - 103,041,497CLINVAR
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 Information

Database Acc Id Source(s)
ClinVar RCV000990921 CLINVAR
dbSNP (RS) rs1602382829 CLINVAR
MedGen C0205711 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR
  312080 CLINVAR
SNOMED CT 64855000 CLINVAR