RGD:329387809 Rat Genome Database

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Variant: RGD:329387809 -  Homo sapiens

RGD ID: 329387809
ClinVar ID: CV2471009
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP27A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 219,679,688
GRCh38 2 218,814,965
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000784.4:c.1531G>A
NG_007959.1:g.38217G>A
NC_000002.12:g.218814965G>A
NC_000002.11:g.219679688G>A
More... 		02/28/2023 missense variant uncertain significance

Variant Details
Variant Transcripts
Gene Symbol:CYP27A1
Accession:NM_000784
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 511
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALGCARLRWALRGAGRGLCPHGARAKAAIPAALPSDKATGAPGAGPGVRRRQRSLEEIPRLGQLRFFFQLFVQGYALQ
LHQLQVLYKAKYGPMWMSYLGPQMHVNLASAPLLEQVMRQEGKYPVRNDMELWKEHRDQHDLTYGPFTTEGHHWYQLRQA
LNQRLLKPAEAALYTDAFNEVIDDFMTRLDQLRAESASGNQVSDMAQLFYYFALEAICYILFEKRIGCLQRSIPEDTVTF
VRSIGLMFQNSLYATFLPKWTRPVLPFWKRYLDGWNAIFSFGKKLIDEKLEDMEAQLQAAGPDGIQVSGYLHFLLASGQL
SPREAMGSLPELLMAGVDTTSNTLTWALYHLSKDPEIQEALHEEVVGVVPAGQVPQHKDFAHMPLLKAVLKETLRLYPVV
PTNSRIIEKEIEVDGFLFPKNTQFVFCHYVVSRDPTAFSEPESFQPHRWLRNSQPATPRIQHPFGSVPFGYGVRACLGRR
IAELEMQLLLARLIQKYKVVLAPETGELKSMARIVLVPNKKVGLQFLQRQC*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004277976 CLINVAR
MedGen CN230736 CLINVAR
NCBI Gene CYP27A1 CLINVAR
OMIM 606530 CLINVAR