RGD:150338044 Rat Genome Database

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Variant: RGD:150338044 -  Homo sapiens

RGD ID: 150338044
RS ID: rs2131958310
ClinVar ID: CV1173757
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLR3A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 79,781,617
GRCh38 10 78,021,859
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.1048+1G>A
NG_029648.1:g.12682G>A
NC_000010.11:g.78021859C>T
NC_000010.10:g.79781617C>T
More... 		08/22/2023 splice donor variant pathogenic|likely pathogenic|not provided 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:16199547   PMID:21855841   PMID:22855961   PMID:25339210   PMID:27029625   PMID:27612211   PMID:28492532   PMID:30414627   PMID:30450527  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001541978 CLINVAR
  RCV003558839 CLINVAR
dbSNP (RS) rs2131958310 CLINVAR
MedGen C2676243 CLINVAR
  C3661900 CLINVAR
NCBI Gene POLR3A CLINVAR
OMIM 607694 CLINVAR
  614258 CLINVAR