NM_000533.5(PLP1):c.104G>A (p.Cys35Tyr)Rat Genome Database

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Variant : CV614612 (NM_000533.5(PLP1):c.104G>A (p.Cys35Tyr)) Homo sapiens

Symbol: CV614612
Name: NM_000533.5(PLP1):c.104G>A (p.Cys35Tyr)
RGD ID: 14399327
Condition: Pelizaeus-Merzbacher disease [RCV000768444]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: PLP1   RAB9B  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: case-control
HGVS Name(s): NM_001128834.2:c.104G>A
NG_008863.2:g.14171G>A
NP_000524.3:p.Cys35Tyr
NC_000023.11:g.103785681G>A
NP_001122306.1:p.Cys35Tyr
NM_000533.5:c.104G>A
NC_000023.10:g.103040610G>A
NM_000533.3:c.104G>A
NM_199478.3:c.104G>A
NM_001305004.1:c.5-66G>A
NG_016452.2:g.51602C>T
NP_955772.1:p.Cys35Tyr
Position
Human AssemblyChrPosition (strand)Source
GRCh38X103,785,681 - 103,785,681CLINVAR
GRCh37X103,040,610 - 103,040,610CLINVAR
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 RCV000768444 CLINVAR
dbSNP (RS) rs1569427275 CLINVAR
MedGen C0205711 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR
  312080 CLINVAR
SNOMED CT 64855000 CLINVAR