rs200902087 Rat Genome Database

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Variant: rs200902087 -  Homo sapiens

RGD ID: 9691671
RS ID: rs200902087
ClinVar ID: CV172576
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 35,250,360
GRCh38 1 34,784,759
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NG_008309.1:g.8571C>T
NC_000001.11:g.34784759C>T
NC_000001.10:g.35250360C>T
NM_024009.2:c.-4C>T
More...
03/25/2020 5 prime utr variant likely benign|uncertain significance AllHighlyPenetrant; GJB3-related condition; none provided

Gene Symbol:GJB3
Accession:NM_024009
Location:5UTRS;EXON

Gene Symbol:GJB3
Accession:NM_001005752
Location:5UTRS;EXON

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PMID:24033266  



Database
Acc Id
Source(s)
ClinVar RCV000150738 CLINVAR
  RCV001589001 CLINVAR
  RCV003945185 CLINVAR
dbSNP (RS) rs200902087 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene GJB3 CLINVAR
OMIM 603324 CLINVAR