RGD:11642114 Rat Genome Database

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Variant: RGD:11642114 -  Homo sapiens

RGD ID: 11642114
RS ID: rs369969903
ClinVar ID: CV275496
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP27A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 219,678,840
GRCh38 2 218,814,117
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.37369G>A
NC_000002.12:g.218814117G>A
NC_000002.11:g.219678840G>A
NP_000775.1:p.Gly372Arg
More... 		11/24/2020 missense variant conflicting interpretations of pathogenicity|uncertain significance Cerebral cholesterinosis; Cerebrotendinous Xanthomatosis; CTX: Cerebrotendinous xanthomatosis; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CYP27A1
Accession:NM_000784
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 372
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALGCARLRWALRGAGRGLCPHGARAKAAIPAALPSDKATGAPGAGPGVRRRQRSLEEIPRLGQLRFFFQLFVQGYALQ
LHQLQVLYKAKYGPMWMSYLGPQMHVNLASAPLLEQVMRQEGKYPVRNDMELWKEHRDQHDLTYGPFTTEGHHWYQLRQA
LNQRLLKPAEAALYTDAFNEVIDDFMTRLDQLRAESASGNQVSDMAQLFYYFALEAICYILFEKRIGCLQRSIPEDTVTF
VRSIGLMFQNSLYATFLPKWTRPVLPFWKRYLDGWNAIFSFGKKLIDEKLEDMEAQLQAAGPDGIQVSGYLHFLLASGQL
SPREAMGSLPELLMAGVDTTSNTLTWALYHLSKDPEIQEALHEEVVGVVPARQVPQHKDFAHMPLLKAVLKETLRLYPVV
PTNSRIIEKEIEVDGFLFPKNTQFVFCHYVVSRDPTAFSEPESFQPHRWLRNSQPATPRIQHPFGSVPFGYGVRACLGRR
IAELEMQLLLARLIQKYKVVLAPETGELKSVARIVLVPNKKVGLQFLQRQC*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000368208 CLINVAR
  RCV001138169 CLINVAR
  RCV002436128 CLINVAR
dbSNP (RS) rs369969903 CLINVAR
MedGen C0238052 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene CYP27A1 CLINVAR
OMIM 213700 CLINVAR
  606530 CLINVAR
SNOMED CT 63246000 CLINVAR