RGD:8595454 Rat Genome Database

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Variant: RGD:8595454 -  Homo sapiens

RGD ID: 8595454
RS ID: rs118204010
ClinVar ID: CV16711
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP27B1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 58,157,931
GRCh38 12 57,764,148
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_007076.1:g.8046C>G
NC_000012.12:g.57764148G>C
NC_000012.11:g.58157931G>C
NP_000776.1:p.Arg389Gly
More... 		06/21/2012 missense|missense variant pathogenic neonatal/infancy 1-5 / 10 000 PDDR IA; PSEUDOVITAMIN D-DEFICIENCY RICKETS, TYPE IA; VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CYP27B1
Accession:NM_000785
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 389
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQTLKYASRVFHRVRWAPELGASLGYREYHSARRSLADIPGPSTPSFLAELFCKGGLSRLHELQVQGAAHFGPVWLASF
GTVRTVYVAAPALVEELLRQEGPRPERCSFSPWTEHRRCRQRACGLLTAEGEEWQRLRSLLAPLLLRPQAAARYAGTLNN
VVCDLVRRLRRQRGRGTGPPALVRDVAGEFYKFGLEGIAAVLLGSRLGCLEAQVPPDTETFIRAVGSVFVSTLLTMAMPH
WLRHLVPGPWGRLCRDWDQMFAFAQRHVERREAEAAMRNGGQPEKDLESGAHLTHFLFREELPAQSILGNVTELLLAGVD
TVSNTLSWALYELSRHPEVQTALHSEITAALSPGSSAYPSATVLSQLPLLKAVVKEVLRLYPVVPGNSGVPDKDIHVGDY
IIPKNTLVTLCHYATSRDPAQFPEPNSFRPARWLGEGPTPHPFASLPFGFGKRSCMGRRLAELELQMALAQILTHFEVQP
EPGAAPVRPKTRTVLVPERSINLQFLDR*
Variant Samples
Additional References at PubMed
PMID:12050193  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000001739 CLINVAR
dbSNP (RS) rs118204010 CLINVAR
MedGen CN283242 CLINVAR
NCBI Gene CYP27B1 CLINVAR
OMIM 264700 CLINVAR
  609506 CLINVAR
OMIM Allele 609506.0015 CLINVAR