NM_000533.5(PLP1):c.551G>A (p.Cys184Tyr)Rat Genome Database

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Variant : CV792105 (NM_000533.5(PLP1):c.551G>A (p.Cys184Tyr)) Homo sapiens

Symbol: CV792105
Name: NM_000533.5(PLP1):c.551G>A (p.Cys184Tyr)
RGD ID: 21073791
Condition: Pelizaeus-Merzbacher disease [RCV000990922]
Clinical Significance: likely pathogenic
Last Evaluated: 05/28/2019
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): NM_001305004.1:c.386G>A
NM_199478.3:c.446G>A
NM_001128834.2:c.551G>A
NG_008863.2:g.16385G>A
NG_016452.2:g.49388C>T
NC_000023.11:g.103787895G>A
NC_000023.10:g.103042824G>A
NP_001291933.1:p.Cys129Tyr
NM_000533.5:c.551G>A
NP_955772.1:p.Cys149Tyr
NP_000524.3:p.Cys184Tyr
NP_001122306.1:p.Cys184Tyr
Position
Human AssemblyChrPosition (strand)Source
GRCh38X103,787,895 - 103,787,895CLINVAR
GRCh37X103,042,824 - 103,042,824CLINVAR
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 RCV000990922 CLINVAR
dbSNP (RS) rs1602384238 CLINVAR
MedGen C0205711 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR
  312080 CLINVAR
SNOMED CT 64855000 CLINVAR