NM_000533.5(PLP1):c.725C>T (p.Ala242Val)Rat Genome Database

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Variant : CV26130 (NM_000533.5(PLP1):c.725C>T (p.Ala242Val)) Homo sapiens

Symbol: CV26130
Name: NM_000533.5(PLP1):c.725C>T (p.Ala242Val)
RGD ID: 8562152
Condition: Pelizaeus-Merzbacher disease, connatal [RCV000011840]
Clinical Significance: pathogenic
Last Evaluated: 10/02/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: PLP1   RAB9B  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only
HGVS Name(s): NC_000023.11:g.103789361C>T
NC_000023.10:g.103044290C>T
NP_001122306.1:p.Ala242Val
NM_001128834.2:c.725C>T
NG_008863.2:g.17851C>T
NG_016452.2:g.47922G>A
NP_001291933.1:p.Ala187Val
NM_001305004.1:c.560C>T
NM_199478.3:c.620C>T
NM_000533.5:c.725C>T
NP_955772.1:p.Ala207Val
NP_000524.3:p.Ala242Val
Position
Human AssemblyChrPosition (strand)Source
GRCh38X103,789,361 - 103,789,361CLINVAR
GRCh37X103,044,290 - 103,044,290CLINVAR
Cytogenetic MapXXq22.2CLINVAR



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:8696336   PMID:9482656  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011840 CLINVAR
dbSNP (RS) rs132630293 CLINVAR
MedGen C4016483 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR
OMIM Allele 300401.0019 CLINVAR