NM_000533.5(PLP1):c.709T>G (p.Phe237Val)Rat Genome Database

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Variant : CV804833 (NM_000533.5(PLP1):c.709T>G (p.Phe237Val)) Homo sapiens

Symbol: CV804833
Name: NM_000533.5(PLP1):c.709T>G (p.Phe237Val)
RGD ID: 25316809
Condition: Pelizaeus-Merzbacher disease [RCV001007563]
Clinical Significance: likely pathogenic
Last Evaluated: 02/10/2020
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_001128834.2:c.709T>G
NG_008863.2:g.17835T>G
NM_199478.3:c.604T>G
NM_000533.5:c.709T>G
NG_016452.2:g.47938A>C
NC_000023.11:g.103789345T>G
NC_000023.10:g.103044274T>G
NP_001291933.1:p.Phe182Val
NP_955772.1:p.Phe202Val
NP_000524.3:p.Phe237Val
NM_001305004.1:c.544T>G
NP_001122306.1:p.Phe237Val
Position
Human AssemblyChrPosition (strand)Source
GRCh38X103,789,345 - 103,789,345CLINVAR
GRCh37X103,044,274 - 103,044,274CLINVAR
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:25491635   PMID:25741868   PMID:29451896  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001007563 CLINVAR
dbSNP (RS) rs1602385663 CLINVAR
MedGen C0205711 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR
  312080 CLINVAR
SNOMED CT 64855000 CLINVAR