RGD:38469810 Rat Genome Database

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Variant: RGD:38469810 -  Homo sapiens

RGD ID: 38469810
RS ID: rs745805058
ClinVar ID: CV934395
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP7B1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 65,509,290
GRCh38 8 64,596,733
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001324112.2:c.1234-6889A>G
NM_004820.5:c.1430A>G
NG_008338.2:g.207059A>G
NC_000008.11:g.64596733T>C
More... 		09/29/2019 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View
paraplegia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CYP7B1
Accession:NM_004820
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 477
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGEVSAATGRFSLERLGLPGLALAAALLLLALCLLVRRTRRPGEPPLIKGWLPYLGVVLNLRKDPLRFMKTLQKQHGDT
FTVLLGGKYITFILDPFQYQLVIKNHKQLSFRVFSNKLLEKAFSISQLQKNHDMNDELHLCYQFLQGKSLDILLESMMQN
LKQVFEPQLLKTTSWDTAELYPFCSSIIFEITFTTIYGKVIVCDNNKFISELRDDFLKFDDKFAYLVSNIPIELLGNVKS
IREKIIKCFSSEKLAKMQGWSEVFQSRQDVLEKYYVHEDLEIGAHHLGFLWASVANTIPTMFWAMYYLLRHPEAMAAVRD
EIDRLLQSTGQKKGSGFPIHLTREQLDSLICLESSIFEALRLSSYSTTIRFVEEDLTLSSETGDYCVRKGDLVAIFPPVL
HGDPEIFEAPEEFRYDRFIEDGKKKTTFFKRGKKLKCYLMPFGTGTSKCPGRFFALMEIKQLLVILLTYFDLEIIDGKPI
GLNYSRLLFGIQYPDSDVLFRYKVKS*

Gene Symbol:CYP7B1
Accession:XM_017014002
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 499
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVTLMLRWSSRGCFMRIESEQSTVDSIVALWEDIQLMLTDCNPLRQDLDIYTLQLPEKTCLRRPGEPPLIKGWLPYLGV
VLNLRKDPLRFMKTLQKQHGDTFTVLLGGKYITFILDPFQYQLVIKNHKQLSFRVFSNKLLEKAFSISQLQKNHDMNDEL
HLCYQFLQGKSLDILLESMMQNLKQVFEPQLLKTTSWDTAELYPFCSSIIFEITFTTIYGKVIVCDNNKFISELRDDFLK
FDDKFAYLVSNIPIELLGNVKSIREKIIKCFSSEKLAKMQGWSEVFQSRQDVLEKYYVHEDLEIGAHHLGFLWASVANTI
PTMFWAMYYLLRHPEAMAAVRDEIDRLLQSTGQKKGSGFPIHLTREQLDSLICLESSIFEALRLSSYSTTIRFVEEDLTL
SSETGDYCVRKGDLVAIFPPVLHGDPEIFEAPEEFRYDRFIEDGKKKTTFFKRGKKLKCYLMPFGTGTSKCPGRFFALME
IKQLLVILLTYFDLEIIDGKPIGLNYSRLLFGIQYPDSDVLFRYKVKS*

Gene Symbol:CYP7B1
Accession:NM_001324112
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001213421 CLINVAR
dbSNP (RS) rs745805058 CLINVAR
MedGen C0037772 CLINVAR
NCBI Gene CYP7B1 CLINVAR
OMIM 603711 CLINVAR