RGD:13491194 Rat Genome Database

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Variant: RGD:13491194 -  Homo sapiens

RGD ID: 13491194
RS ID: rs750886042
ClinVar ID: CV446898
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC52A3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 748,547
GRCh38 20 767,903
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_027687.1:g.5682T>C
NC_000020.11:g.767903A>G
NC_000020.10:g.748547A>G
NM_001370085.1:c.-52+394T>C
More... 		03/02/2016 intron variant uncertain significance BROWN-VIALETTO-VAN LAERE SYNDROME 1, MILD; BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS; Pontobulbar palsy and neurosensory deafness; PONTOBULBAR PALSY WITH DEAFNESS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC52A3
Accession:XM_047439867
Location:5UTRS;INTRON

Gene Symbol:SLC52A3
Accession:XM_047439868
Location:5UTRS;INTRON

Gene Symbol:SLC52A3
Accession:XM_024451821
Location:5UTRS;INTRON

Gene Symbol:SLC52A3
Accession:NM_033409
Location:5UTRS;INTRON

Gene Symbol:SLC52A3
Accession:NM_001370086
Location:5UTRS;INTRON

Gene Symbol:SLC52A3
Accession:NM_001370085
Location:5UTRS;INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000534045 CLINVAR
dbSNP (RS) rs750886042 CLINVAR
MedGen C0796274 CLINVAR
NCBI Gene SLC52A3 CLINVAR
OMIM 211530 CLINVAR
  613350 CLINVAR