NM_000533.5(PLP1):c.3G>A (p.Met1Ile)Rat Genome Database

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Variant : CV26126 (NM_000533.5(PLP1):c.3G>A (p.Met1Ile)) Homo sapiens

Symbol: CV26126
Name: NM_000533.5(PLP1):c.3G>A (p.Met1Ile)
RGD ID: 8562148
Condition: Pelizaeus-Merzbacher disease, mild [RCV000011836]
Clinical Significance: pathogenic
Last Evaluated: 03/21/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: PLP1   RAB9B  
Variant Type: single nucleotide variant (SO:0001582)
Source: CLINVAR
Molecular Consequence: initiatior codon variant|missense|missense variant
Evidence: literature only
HGVS Name(s): NC_000023.11:g.103776998G>A
NC_000023.10:g.103031926G>A
NP_001122306.1:p.Met1Ile
NM_001128834.2:c.3G>A
NG_008863.2:g.5488G>A
NP_001291933.1:p.Met1Ile
NM_000533.5:c.3G>A
NM_001305004.1:c.3G>A
NM_199478.3:c.3G>A
NG_016452.2:g.60285C>T
NP_000524.3:p.Met1Ile
NP_955772.1:p.Met1Ile
Position
Human AssemblyChrPosition (strand)Source
GRCh38X103,776,998 - 103,776,998CLINVAR
GRCh37X103,031,926 - 103,031,926CLINVAR
Cytogenetic MapXXq22.2CLINVAR



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:8786077  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011836 CLINVAR
dbSNP (RS) rs132630290 CLINVAR
MedGen C4016484 CLINVAR
NCBI Gene PLP1 CLINVAR
  RAB9B CLINVAR
OMIM 300285 CLINVAR
  300401 CLINVAR
OMIM Allele 300401.0015 CLINVAR