RGD:401915229 Rat Genome Database

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Variant: RGD:401915229 -  Homo sapiens

RGD ID: 401915229
ClinVar ID: CV2795185
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP27B1  LOC127824400  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 58,158,805
GRCh38 12 57,765,022
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_125917.1:g.802A>C
NG_125917.2:g.802A>C
NC_000012.12:g.57765022A>C
NC_000012.11:g.58158805A>C
More... 		05/20/2023 missense variant likely pathogenic|uncertain significance none provided; 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: M to R (nonsynonymous)
Amino Acid Position: 260
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQTLKYASRVFHRVRWAPELGASLGYREYHSARRSLADIPGPSTPSFLAELFCKGGLSRLHELQVQGAAHFGPVWLASF
GTVRTVYVAAPALVEELLRQEGPRPERCSFSPWTEHRRCRQRACGLLTAEGEEWQRLRSLLAPLLLRPQAAARYAGTLNN
VVCDLVRRLRRQRGRGTGPPALVRDVAGEFYKFGLEGIAAVLLGSRLGCLEAQVPPDTETFIRAVGSVFVSTLLTMAMPH
WLRHLVPGPWGRLCRDWDQRFAFAQRHVERREAEAAMRNGGQPEKDLESGAHLTHFLFREELPAQSILGNVTELLLAGVD
TVSNTLSWALYELSRHPEVQTALHSEITAALSPGSSAYPSATVLSQLPLLKAVVKEVLRLYPVVPGNSRVPDKDIHVGDY
IIPKNTLVTLCHYATSRDPAQFPEPNSFRPARWLGEGPTPHPFASLPFGFGKRSCMGRRLAELELQMALAQILTHFEVQP
EPGAAPVRPKTRTVLVPERSINLQFLDR*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003388969 CLINVAR
  RCV003549081 CLINVAR
MedGen C3661900 CLINVAR
  CN283242 CLINVAR
NCBI Gene CYP27B1 CLINVAR
OMIM 264700 CLINVAR
  609506 CLINVAR