NM_000533.5(PLP1):c.743C>A (p.Ala248Glu)Rat Genome Database

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Variant : CV919967 (NM_000533.5(PLP1):c.743C>A (p.Ala248Glu)) Homo sapiens

Symbol: CV919967
Name: NM_000533.5(PLP1):c.743C>A (p.Ala248Glu)
RGD ID: 38461637
Condition: Pelizaeus-Merzbacher disease [RCV001197803]
Clinical Significance: likely pathogenic
Last Evaluated: 11/28/2018
Review Status: criteria provided, single submitter
Related Genes: PLP1   RAB9B  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NP_000524.3:p.Ala248Glu
NP_001122306.1:p.Ala248Glu
NM_000533.3:c.743C>A
NM_001305004.1:c.578C>A
NM_199478.3:c.638C>A
NM_000533.5:c.743C>A
NM_001128834.2:c.743C>A
NG_008863.2:g.17869C>A
NG_016452.2:g.47904G>T
NC_000023.11:g.103789379C>A
NP_001291933.1:p.Ala193Glu
NP_955772.1:p.Ala213Glu
NC_000023.10:g.103044308C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X103,789,379 - 103,789,379CLINVAR
GRCh37X103,044,308 - 103,044,308CLINVAR
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 RCV001197803 CLINVAR
MedGen C0205711 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR
  312080 CLINVAR
SNOMED CT 64855000 CLINVAR