RGD:8573381 Rat Genome Database

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Variant: RGD:8573381 -  Homo sapiens

RGD ID: 8573381
RS ID: rs72551320
ClinVar ID: CV76735
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP27A1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 219,678,787
GRCh38 2 218,814,064
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_007959.1:g.37316A>G
NC_000002.12:g.218814064A>G
NC_000002.11:g.219678787A>G
NP_000775.1:p.Asp354Gly
More... 		08/01/2013 missense variant pathogenic neonatal/infancy 1-9 / 100 000 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: D to G (nonsynonymous)
Amino Acid Position: 354
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALGCARLRWALRGAGRGLCPHGARAKAAIPAALPSDKATGAPGAGPGVRRRQRSLEEIPRLGQLRFFFQLFVQGYALQ
LHQLQVLYKAKYGPMWMSYLGPQMHVNLASAPLLEQVMRQEGKYPVRNDMELWKEHRDQHDLTYGPFTTEGHHWYQLRQA
LNQRLLKPAEAALYTDAFNEVIDDFMTRLDQLRAESASGNQVSDMAQLFYYFALEAICYILFEKRIGCLQRSIPEDTVTF
VRSIGLMFQNSLYATFLPKWTRPVLPFWKRYLDGWNAIFSFGKKLIDEKLEDMEAQLQAAGPDGIQVSGYLHFLLASGQL
SPREAMGSLPELLMAGVDTTSNTLTWALYHLSKGPEIQEALHEEVVGVVPAGQVPQHKDFAHMPLLKAVLKETLRLYPVV
PTNSRIIEKEIEVDGFLFPKNTQFVFCHYVVSRDPTAFSEPESFQPHRWLRNSQPATPRIQHPFGSVPFGYGVRACLGRR
IAELEMQLLLARLIQKYKVVLAPETGELKSVARIVLVPNKKVGLQFLQRQC*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000056067 CLINVAR
dbSNP (RS) rs72551320 CLINVAR
MedGen C0238052 CLINVAR
NCBI Gene CYP27A1 CLINVAR
OMIM 213700 CLINVAR
  606530 CLINVAR
SNOMED CT 63246000 CLINVAR