RGD:11350829 Rat Genome Database

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Variant: RGD:11350829 -  Homo sapiens

RGD ID: 11350829
RS ID: rs148932047
ClinVar ID: CV237149
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLR3A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 79,753,125
GRCh38 10 77,993,367
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_029648.1:g.41174C>T
NC_000010.11:g.77993367G>A
NC_000010.10:g.79753125G>A
NP_008986.2:p.Arg873Ter
More...
01/24/2023 nonsense pathogenic Hypomyelinating leukodystrophy; Metachromatic leukodystrophy variant; none provided; Wiedemann-Rautenstrauch syndrome
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Leukodystrophy  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:POLR3A
Accession:NM_007055
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:21855841   PMID:25339210   PMID:25741868   PMID:27612211   PMID:28459997   PMID:28492532   PMID:30414627   PMID:30450527  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000224488 CLINVAR
  RCV000755662 CLINVAR
  RCV002516224 CLINVAR
  RCV003417799 CLINVAR
dbSNP (RS) rs148932047 CLINVAR
MedGen C0023520 CLINVAR
  C0406586 CLINVAR
  C3661900 CLINVAR
NCBI Gene POLR3A CLINVAR
OMIM 264090 CLINVAR
  614258 CLINVAR
OMIM Allele 614258.0008 CLINVAR
SNOMED CT 238874008 CLINVAR