RGD:14392937 Rat Genome Database

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Variant: RGD:14392937 -  Homo sapiens

RGD ID: 14392937
RS ID: rs1564623882
ClinVar ID: CV610436
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126860971  POLR3A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 79,784,728
GRCh38 10 78,024,970
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.9571G>A
NC_000010.11:g.78024970C>T
NM_007055.3:c.490+1G>A
NM_007055.4:c.490+1G>A
More... 		10/01/2018 splice donor variant pathogenic Wiedemann-Rautenstrauch syndrome
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:25741868   PMID:30414627  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000757951 CLINVAR
dbSNP (RS) rs1564623882 CLINVAR
MedGen C0406586 CLINVAR
NCBI Gene LOC126860971 CLINVAR
  POLR3A CLINVAR
OMIM 264090 CLINVAR
  614258 CLINVAR
SNOMED CT 238874008 CLINVAR