RGD:10049582 Rat Genome Database

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Variant: RGD:10049582 -  Homo sapiens

RGD ID: 10049582
RS ID: rs200055760
ClinVar ID: CV190635
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BBS4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 72,978,600
GRCh38 15 72,686,259
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_009416.2:g.5075C>T
NC_000015.10:g.72686259C>T
NC_000015.9:g.72978600C>T
NM_001252678.2:c.-446+8C>T
More... 		02/18/2022 intron variant|non-coding transcript variant benign|conflicting interpretations of pathogenicity|uncertain significance antenatal 1-9 / 100 000 AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BBS4
Accession:XM_017022450
Location:5UTRS;EXON

Gene Symbol:BBS4
Accession:XM_047432911
Location:5UTRS;EXON

Gene Symbol:BBS4
Accession:XM_017022454
Location:5UTRS;INTRON

Gene Symbol:BBS4
Accession:XM_047432913
Location:5UTRS;INTRON

Gene Symbol:BBS4
Accession:NM_001252678
Location:5UTRS;INTRON

Gene Symbol:BBS4
Accession:XM_047432912
Location:5UTRS;INTRON

Gene Symbol:BBS4
Accession:NR_045566
Location:EXON;NON-CODING

Gene Symbol:BBS4
Accession:NM_001320665
Location:INTRON

Gene Symbol:BBS4
Accession:NM_033028
Location:INTRON

Gene Symbol:BBS4
Accession:XM_047432914
Location:INTRON

Gene Symbol:BBS4
Accession:NR_045565
Location:INTRON;NON-CODING

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000173543 CLINVAR
  RCV000336731 CLINVAR
  RCV001094445 CLINVAR
dbSNP (RS) rs200055760 CLINVAR
MedGen C0752166 CLINVAR
  C2936864 CLINVAR
  CN169374 CLINVAR
NCBI Gene BBS4 CLINVAR
OMIM 600374 CLINVAR
  615982 CLINVAR
SNOMED CT 5619004 CLINVAR