RGD:10768528 Rat Genome Database

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Variant: RGD:10768528 -  Homo sapiens

RGD ID: 10768528
RS ID: rs200737038
ClinVar ID: CV221765
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP7B1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 65,528,764
GRCh38 8 64,616,207
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_004811.1:p.Arg112Ter
NG_008338.2:g.187585C>T
NM_004820.3:c.334C>T
NC_000008.11:g.64616207G>A
More... 		03/09/2021 nonsense pathogenic|conflicting interpretations of pathogenicity Familial spastic paraparesis; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CYP7B1
Accession:XM_017014002
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVTLMLRWSSRGCFMRIESEQSTVDSIVALWEDIQLMLTDCNPLRQDLDIYTLQLPEKTCLRRPGEPPLIKGWLPYLGV
VLNLRKDPLRFMKTLQKQHGDTFTVLLGGKYITFILDPFQYQLVIKNHKQLSF*VFSNKLLEKAFSISQLQKNHDMNDEL
HLCYQFLQGKSLDILLESMMQNLKQVFEPQLLKTTSWDTAELYPFCSSIIFEITFTTIYGKVIVCDNNKFISELRDDFLK
FDDKFAYLVSNIPIELLGNVKSIREKIIKCFSSEKLAKMQGWSEVFQSRQDVLEKYYVHEDLEIGAHHLGFLWASVANTI
PTMFWAMYYLLRHPEAMAAVRDEIDRLLQSTGQKKGSGFPIHLTREQLDSLICLESSIFEALRLSSYSTTIRFVEEDLTL
SSETGDYCVRKGDLVAIFPPVLHGDPEIFEAPEEFRYDRFIEDGKKKTTFFKRGKKLKCYLMPFGTGTSKCPGRFFALME
IKQLLVILLTYFDLEIIDDKPIGLNYSRLLFGIQYPDSDVLFRYKVKS*

Gene Symbol:CYP7B1
Accession:NM_001324112
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGEVSAATGRFSLERLGLPGLALAAALLLLALCLLVRRTRRPGEPPLIKGWLPYLGVVLNLRKDPLRFMKTLQKQHGDT
FTVLLGGKYITFILDPFQYQLVIKNHKQLSF*VFSNKLLEKAFSISQLQKNHDMNDELHLCYQFLQGKSLDILLESMMQN
LKQVFEPQLLKTTSWDTAELYPFCSSIIFEITFTTIYGKVIVCDNNKFISELRDDFLKFDDKFAYLVSNIPIELLGNVKS
IREKIIKCFSSEKLAKMQGWSEVFQSRQDVLEKYYVHEDLEIGAHHLGFLWASVANTIPTMFWAMYYLLRHPEAMAAVRD
EIDRLLQSTGQKKGSGFPIHLTREQLDSLICLESSIFEALRLSSYSTTIRFVEEDLTLSSETGDYCVRKGDLVAIFPPVL
HGDPEIFEAPEQTVLTGETRGMEITELSNLYFCTAYSREKWRRERRKIHTHILVYLIILQ*

Gene Symbol:CYP7B1
Accession:NM_004820
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGEVSAATGRFSLERLGLPGLALAAALLLLALCLLVRRTRRPGEPPLIKGWLPYLGVVLNLRKDPLRFMKTLQKQHGDT
FTVLLGGKYITFILDPFQYQLVIKNHKQLSF*VFSNKLLEKAFSISQLQKNHDMNDELHLCYQFLQGKSLDILLESMMQN
LKQVFEPQLLKTTSWDTAELYPFCSSIIFEITFTTIYGKVIVCDNNKFISELRDDFLKFDDKFAYLVSNIPIELLGNVKS
IREKIIKCFSSEKLAKMQGWSEVFQSRQDVLEKYYVHEDLEIGAHHLGFLWASVANTIPTMFWAMYYLLRHPEAMAAVRD
EIDRLLQSTGQKKGSGFPIHLTREQLDSLICLESSIFEALRLSSYSTTIRFVEEDLTLSSETGDYCVRKGDLVAIFPPVL
HGDPEIFEAPEEFRYDRFIEDGKKKTTFFKRGKKLKCYLMPFGTGTSKCPGRFFALMEIKQLLVILLTYFDLEIIDDKPI
GLNYSRLLFGIQYPDSDVLFRYKVKS*
Variant Samples
Additional References at PubMed
PMID:9802883   PMID:18367963   PMID:19363635   PMID:19439420   PMID:21541746   PMID:21567895   PMID:24117163   PMID:24641183   PMID:25741868   PMID:28039895   PMID:28492532   PMID:29980238  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000206556 CLINVAR
  RCV000210595 CLINVAR
  RCV000729706 CLINVAR
  RCV001312060 CLINVAR
  RCV001847930 CLINVAR
dbSNP (RS) rs200737038 CLINVAR
MedGen C0037772 CLINVAR
  C0037773 CLINVAR
  C0950123 CLINVAR
  C3151147 CLINVAR
  C3661900 CLINVAR
NCBI Gene CYP7B1 CLINVAR
OMIM 603711 CLINVAR
  613812 CLINVAR
OMIM Allele 603711.0011 CLINVAR
SNOMED CT 39912006 CLINVAR