NM_000533.5(PLP1):c.658T>G (p.Cys220Gly)Rat Genome Database

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Variant : CV535711 (NM_000533.5(PLP1):c.658T>G (p.Cys220Gly)) Homo sapiens

Symbol: CV535711
Name: NM_000533.5(PLP1):c.658T>G (p.Cys220Gly)
RGD ID: 13674013
Condition: Intellectual disability [RCV001257698]|Pelizaeus-Merzbacher disease [RCV000656398]
Clinical Significance: likely pathogenic
Last Evaluated: 06/22/2017
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): NC_000023.11:g.103788472T>G
NC_000023.10:g.103043401T>G
NM_001128834.1:c.658T>G
NP_001122306.1:p.Cys220Gly
NG_008863.2:g.16962T>G
NM_001128834.2:c.658T>G
NM_001305004.1:c.493T>G
NM_199478.3:c.553T>G
NP_001291933.1:p.Cys165Gly
NP_955772.1:p.Cys185Gly
NP_000524.3:p.Cys220Gly
NM_000533.5:c.658T>G
NG_016452.2:g.48811A>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38X103,788,472 - 103,788,472CLINVAR
GRCh37X103,043,401 - 103,043,401CLINVAR
Cytogenetic MapXXq22.2CLINVAR
Trait Synonyms: Dull intelligence; Intellectual functioning disability; LEUKODYSTROPHY, HYPOMYELINATING, 1; Low intelligence; Mental deficiency; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation; 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 RCV000656398 CLINVAR
  RCV001257698 CLINVAR
dbSNP (RS) rs1556270312 CLINVAR
MedGen C0205711 CLINVAR
  C3714756 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR
  312080 CLINVAR
SNOMED CT 228156007 CLINVAR
  64855000 CLINVAR