RGD:11545428 Rat Genome Database

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Variant: RGD:11545428 -  Homo sapiens

RGD ID: 11545428
RS ID: rs11981364
ClinVar ID: CV252804
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BBS9  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 33,380,598
GRCh38 7 33,340,986
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000007.14:g.33340986G>T
NC_000007.13:g.33380598G>T
NG_009306.2:g.216743G>T
NM_198428.3:c.1275+13G>T
More... 		12/02/2020 intron variant benign|likely benign antenatal 1-9 / 100 000 AllHighlyPenetrant; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BBS9
Accession:NM_001348045
Location:INTRON

Gene Symbol:BBS9
Accession:NM_001348046
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BBS9
Accession:NM_001348037
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BBS9
Accession:NM_001348042
Location:INTRON

Gene Symbol:BBS9
Accession:NM_001033605
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BBS9
Accession:NM_001348036
Location:INTRON

Gene Symbol:BBS9
Accession:NM_001348039
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BBS9
Accession:NM_001033604
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BBS9
Accession:NM_014451
Location:INTRON

Gene Symbol:BBS9
Accession:NM_001348041
Location:INTRON

Gene Symbol:BBS9
Accession:NM_001348038
Location:INTRON

Gene Symbol:BBS9
Accession:NM_001348043
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BBS9
Accession:NM_198428
Location:INTRON

Gene Symbol:BBS9
Accession:NM_001348044
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BBS9
Accession:NM_001348040
Location:INTRON

Gene Symbol:BBS9
Accession:NM_001362679
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:BBS9
Accession:NR_145413
Location:INTRON;NON-CODING

Gene Symbol:BBS9
Accession:NR_145412
Location:INTRON;NON-CODING

Gene Symbol:BBS9
Accession:NR_145411
Location:INTRON;NON-CODING

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000245123 CLINVAR
  RCV000405926 CLINVAR
  RCV001513846 CLINVAR
  RCV001711753 CLINVAR
dbSNP (RS) rs11981364 CLINVAR
MedGen C0752166 CLINVAR
  C1859567 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene BBS9 CLINVAR
OMIM 607968 CLINVAR
  615986 CLINVAR
SNOMED CT 5619004 CLINVAR