NM_000533.5(PLP1):c.677C>G (p.Ser226Cys)Rat Genome Database

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Variant : CV552240 (NM_000533.5(PLP1):c.677C>G (p.Ser226Cys)) Homo sapiens

Symbol: CV552240
Name: NM_000533.5(PLP1):c.677C>G (p.Ser226Cys)
RGD ID: 13794645
Condition: Pelizaeus-Merzbacher disease [RCV000680074]
Clinical Significance: uncertain significance
Last Evaluated: 09/01/2017
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): NM_000533.4:c.677C>G
NP_001291933.1:p.Ser171Cys
NM_000533.5:c.677C>G
NG_016452.2:g.48792G>C
NC_000023.11:g.103788491C>G
NM_001128834.2:c.677C>G
NG_008863.2:g.16981C>G
NP_000524.3:p.Ser226Cys
NC_000023.10:g.103043420C>G
NP_001122306.1:p.Ser226Cys
NM_001305004.1:c.512C>G
NM_199478.3:c.572C>G
NP_955772.1:p.Ser191Cys
Position
Human AssemblyChrPosition (strand)Source
GRCh38X103,788,491 - 103,788,491CLINVAR
GRCh37X103,043,420 - 103,043,420CLINVAR
Cytogenetic MapXXq22.2CLINVAR
Trait Synonyms: Hereditary spastic paraplegia 2; LEUKODYSTROPHY, HYPOMYELINATING, 1; Pelizaeus Merzbacher brain sclerosis; Spastic paraplegia 2; SPASTIC PARAPLEGIA 2, X-LINKED; 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:25326635   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000680074 CLINVAR
dbSNP (RS) rs746949269 CLINVAR
MedGen C0205711 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR
  312080 CLINVAR
  312920 CLINVAR
SNOMED CT 64855000 CLINVAR