RGD:11549653 Rat Genome Database

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Variant: RGD:11549653 -  Homo sapiens

RGD ID: 11549653
RS ID: rs187651906
ClinVar ID: CV252800
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BBS9  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 33,304,019
GRCh38 7 33,264,407
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.14:g.33264407A>G
NC_000007.13:g.33304019A>G
NM_001348036.1:c.702+33A>G
NM_198428.2:c.702+33A>G
More... 		intron variant benign AllHighlyPenetrant

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

Gene Symbol:BBS9
Accession:NM_001348036
Location:INTRON

Gene Symbol:BBS9
Accession:NM_001348041
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BBS9
Accession:NM_001362679
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BBS9
Accession:NM_001348046
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BBS9
Accession:NM_001348042
Location:INTRON

Gene Symbol:BBS9
Accession:NM_001348044
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BBS9
Accession:NM_001033605
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BBS9
Accession:NM_014451
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BBS9
Accession:NM_001348038
Location:INTRON

Gene Symbol:BBS9
Accession:NM_001348037
Location:INTRON

Gene Symbol:BBS9
Accession:NM_001348043
Location:INTRON

Gene Symbol:BBS9
Accession:NM_001348039
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BBS9
Accession:NM_001348045
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BBS9
Accession:NM_198428
Location:INTRON

Gene Symbol:BBS9
Accession:NM_001033604
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:BBS9
Accession:NM_001348040
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000250690 CLINVAR
dbSNP (RS) rs187651906 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene BBS9 CLINVAR
OMIM 607968 CLINVAR