RGD:13525902 Rat Genome Database

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Variant: RGD:13525902 -  Homo sapiens

RGD ID: 13525902
RS ID: rs1460517643
ClinVar ID: CV512858
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BBS10  LOC127824596  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 76,741,975
GRCh38 12 76,348,195
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.12:g.76348195A>G
NC_000012.11:g.76741975A>G
NP_078961.3:p.Leu55Pro
NG_016357.1:g.5248T>C
More... 		12/16/2022 missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BBS10
Accession:NM_024685
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSSMAAAGSVKAALQVAEVLEAIVSCCVGPEGRQVLCTKPTGEVLLSRNGGRLPEALHLEHPIARMIVDCVSSHLKKTG
DGAKTFIIFLCHLLRGLHAITDREKDPLMCENIQTHGRHWKNCSRWKFISQALLTFQTQILDGIMDQYLSRHFLSIFSSA
KERTLCRSSLELLLEAYFCGRVGRNNHKFISQLMCDYFFKCMTCKSGIGVFELVDDHFVELNVGVTGLPVSDSRIIAGLV
LQKDFSVYRPADGDMRMVIVTETIQPLFSTSGSEFILNSEAQFQTSQFWIMEKTKAIMKHLHSQNVKLLISSVKQPDLVS
YYAGVNGISVVECLSSEEVSLIRRIIGLSPFVPPQAFSQCEIPNTALVKFCKPLILRSKRYVHLGLISTCAFIPHSIVLC
GPVHGLIEQHEDALHGALKMLRQLFKDLDLNYMTQTNDQNGTSSLFIYKNSGESYQAPDPGNGSIQRPYQDTVAENKDAL
EKTQTYLKVHSNLVIPDVELETYIPYSTPTLTPTDTFQTVETLTCLSLERNRLTDYYEPLLKNNSTAYSTRGNRIEISYE
NLQVTNITRKGSMLPVSCKLPNMGTSQSYLSSSMPAGCVLPVGGNFEILLHYYLLNYAKKCHQSEETMVSMIIANALLGI
PKVLYKSKTGKYSFPHTYIRAVHALQTNQPLVSSQTGLESVMGKYQLLTSVLQCLTKILTIDMVITVKRHPQKVHNQDSE
DEL*
Variant Samples
Additional References at PubMed
PMID:20472660   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000625185 CLINVAR
  RCV000763309 CLINVAR
  RCV001383856 CLINVAR
  RCV001579764 CLINVAR
dbSNP (RS) rs1460517643 CLINVAR
MedGen C0752166 CLINVAR
  C1859568 CLINVAR
  C2936862 CLINVAR
  C3661900 CLINVAR
NCBI Gene BBS10 CLINVAR
OMIM 209900 CLINVAR
  610148 CLINVAR
  615987 CLINVAR
SNOMED CT 5619004 CLINVAR