RGD:11547968 Rat Genome Database

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Variant: RGD:11547968 -  Homo sapiens

RGD ID: 11547968
RS ID: rs6525485
ClinVar ID: CV257875
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 70,442,845
GRCh38 X 71,222,995
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000166.5:c.-146-211G>A
NM_000166.5:c.-357G>A
NM_001097642.3:c.-16-697G>A
NC_000023.11:g.71222995G>A
More... 		2kb upstream variant|intron variant benign AllHighlyPenetrant; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GJB1
Accession:NM_001097642
Location:5UTRS;INTRON

Gene Symbol:GJB1
Accession:XM_011530907
Location:5UTRS;INTRON

Gene Symbol:GJB1
Accession:NM_000166
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000248461 CLINVAR
  RCV000841185 CLINVAR
  RCV001516879 CLINVAR
dbSNP (RS) rs6525485 CLINVAR
MedGen C3661900 CLINVAR
  CN118851 CLINVAR
  CN169374 CLINVAR
NCBI Gene GJB1 CLINVAR
OMIM 304040 CLINVAR