RGD:11665333 Rat Genome Database

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Variant: RGD:11665333 -  Homo sapiens

RGD ID: 11665333
RS ID: rs28642232
ClinVar ID: CV353665
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BBS12  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 123,653,847
GRCh38 4 122,732,692
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
NG_021203.1:g.4991C>T
NC_000004.12:g.122732692C>T
NC_000004.11:g.123653847C>T
 06/14/2016 2kb upstream variant likely benign antenatal 1-9 / 100 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BBS12
Accession:XM_011531680
Location:5UTRS;INTRON

Gene Symbol:BBS12
Accession:NM_152618
Location:INTRON

Gene Symbol:BBS12
Accession:NM_001178007
Location:INTRON

Gene Symbol:BBS12
Accession:XR_007096378
Location:INTRON;NON-CODING

Gene Symbol:BBS12
Accession:XR_007096379
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000265788 CLINVAR
dbSNP (RS) rs28642232 CLINVAR
MedGen C0752166 CLINVAR
NCBI Gene BBS12 CLINVAR
OMIM 610683 CLINVAR
SNOMED CT 5619004 CLINVAR