RGD:28909227 Rat Genome Database

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Variant: RGD:28909227 -  Homo sapiens

RGD ID: 28909227
RS ID: rs755543610
ClinVar ID: CV868509
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLR3A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 79,769,616
GRCh38 10 78,009,858
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_007055.4:c.1770+6T>C
NG_029648.1:g.24683T>C
NC_000010.11:g.78009858A>G
NC_000010.10:g.79769616A>G
More... 		01/01/2023 intron variant uncertain significance 4h syndrome; ATAXIA, DELAYED DENTITION, AND HYPOMYELINATION; Dentoleukoencephalopathy; Dentoleukoencephalopathy, autosomal recessive; Hypomyelinating leukodystrophy 7; LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OLIGODONTIA; LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OLIGODONTIA AND HYPOGONADOTROPIC HYPOGONADISM; LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; LEUKODYSTROPHY, HYPOMYELINATING, 7, WITHOUT OLIGODONTIA OR HYPOGONADOTROPIC HYPOGONADISM; Leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism; LEUKOENCEPHALOPATHY, HYPOMYELINATING, WITH ATAXIA AND DELAYED DENTITION; none provided
Disease Annotations     Click to see Annotation Detail View


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

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001108262 CLINVAR
  RCV001862869 CLINVAR
  RCV002556117 CLINVAR
dbSNP (RS) rs755543610 CLINVAR
MedGen C0950123 CLINVAR
  C2676243 CLINVAR
  C3661900 CLINVAR
NCBI Gene POLR3A CLINVAR
OMIM 607694 CLINVAR
  614258 CLINVAR