RGD:11599205 Rat Genome Database

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Variant: RGD:11599205 -  Homo sapiens

RGD ID: 11599205
RS ID: rs77590844
ClinVar ID: CV316551
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POLR3A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 79,736,316
GRCh38 10 77,976,558
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.57983T>C
NC_000010.11:g.77976558A>G
NC_000010.10:g.79736316A>G
NM_007055.3:c.*920T>C
More... 		01/13/2018 3 prime utr variant likely benign|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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:POLR3A
Accession:NM_007055
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000263893 CLINVAR
dbSNP (RS) rs77590844 CLINVAR
MedGen C2676243 CLINVAR
NCBI Gene POLR3A CLINVAR
OMIM 607694 CLINVAR
  614258 CLINVAR