RGD:13788433 Rat Genome Database

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Variant: RGD:13788433 -  Homo sapiens

RGD ID: 13788433
RS ID: rs560108684
ClinVar ID: CV541783
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP27A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 219,679,694
GRCh38 2 218,814,971
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007959.1:g.38223C>T
NC_000002.12:g.218814971C>T
NC_000002.11:g.219679694C>T
NP_000775.1:p.Arg513Cys
More... 		04/05/2022 missense variant conflicting interpretations of pathogenicity|uncertain significance Cerebral cholesterinosis; Cerebrotendinous Xanthomatosis; CTX: Cerebrotendinous xanthomatosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CYP27A1
Accession:NM_000784
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 513
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALGCARLRWALRGAGRGLCPHGARAKAAIPAALPSDKATGAPGAGPGVRRRQRSLEEIPRLGQLRFFFQLFVQGYALQ
LHQLQVLYKAKYGPMWMSYLGPQMHVNLASAPLLEQVMRQEGKYPVRNDMELWKEHRDQHDLTYGPFTTEGHHWYQLRQA
LNQRLLKPAEAALYTDAFNEVIDDFMTRLDQLRAESASGNQVSDMAQLFYYFALEAICYILFEKRIGCLQRSIPEDTVTF
VRSIGLMFQNSLYATFLPKWTRPVLPFWKRYLDGWNAIFSFGKKLIDEKLEDMEAQLQAAGPDGIQVSGYLHFLLASGQL
SPREAMGSLPELLMAGVDTTSNTLTWALYHLSKDPEIQEALHEEVVGVVPAGQVPQHKDFAHMPLLKAVLKETLRLYPVV
PTNSRIIEKEIEVDGFLFPKNTQFVFCHYVVSRDPTAFSEPESFQPHRWLRNSQPATPRIQHPFGSVPFGYGVRACLGRR
IAELEMQLLLARLIQKYKVVLAPETGELKSVACIVLVPNKKVGLQFLQRQC*
Variant Samples
Additional References at PubMed
PMID:22878431   PMID:25741868   PMID:28492532   PMID:28623566   PMID:31743419   PMID:32714376   PMID:34012265  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000673959 CLINVAR
dbSNP (RS) rs560108684 CLINVAR
MedGen C0238052 CLINVAR
NCBI Gene CYP27A1 CLINVAR
OMIM 213700 CLINVAR
  606530 CLINVAR
SNOMED CT 63246000 CLINVAR