NM_000533.5(PLP1):c.434G>A (p.Trp145Ter)Rat Genome Database

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Variant : CV26129 (NM_000533.5(PLP1):c.434G>A (p.Trp145Ter)) Homo sapiens

Symbol: CV26129
Name: NM_000533.5(PLP1):c.434G>A (p.Trp145Ter)
RGD ID: 8562151
Condition: Hereditary spastic paraplegia 2 [RCV000801130]|Pelizaeus-Merzbacher disease, atypical [RCV000011839]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2018
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: PLP1   RAB9B  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron|intron variant|nonsense|stop-gain
Evidence: clinical testing|literature only
HGVS Name(s): NC_000023.11:g.103786707G>A
NC_000023.10:g.103041636G>A
NP_001122306.1:p.Trp145Ter
NP_000524.3:p.Trp145Ter
NM_001128834.2:c.434G>A
NG_008863.2:g.15197G>A
NM_001305004.1:c.269G>A
NG_016452.2:g.50576C>T
NM_000533.4:c.434G>A
NP_001291933.1:p.Trp90Ter
NM_199478.3:c.348+86G>A
NM_000533.5:c.434G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X103,786,707 - 103,786,707CLINVAR
GRCh37X103,041,636 - 103,041,636CLINVAR
Cytogenetic MapXXq22.2CLINVAR
Trait Synonyms: SPASTIC PARAPLEGIA 2, X-LINKED



Disease Annotations     Click to see Annotation Detail View


References - curated
1. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:9056547   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011839 CLINVAR
  RCV000801130 CLINVAR
dbSNP (RS) rs132630292 CLINVAR
MedGen C0751915 CLINVAR
  C1839264 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR
  312920 CLINVAR
OMIM Allele 300401.0018 CLINVAR