RGD:13835382 Rat Genome Database

Variant: RGD:13835382 - Homo sapiens

RGD ID:

13835382

RS ID:

rs138977616

ClinVar ID:

CV586640

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CYP7B1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	8	65,528,748
GRCh38	8	64,616,191

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_004820.5:c.350A>C NG_008338.2:g.187601A>C NC_000008.11:g.64616191T>G NC_000008.10:g.65528748T>G More...	12/26/2017	missense variant	uncertain significance	none provided

Disease Annotations Click to see Annotation Detail View

congenital bile acid synthesis defect 3 (IAGP)

paraplegia (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Spastic paraplegia (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	CYP7B1
Accession:	XM_017014002
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	139

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEVTLMLRWSSRGCFMRIESEQSTVDSIVALWEDIQLMLTDCNPLRQDLDIYTLQLPEKTCLRRPGEPPLIKGWLPYLGV VLNLRKDPLRFMKTLQKQHGDTFTVLLGGKYITFILDPFQYQLVIKNHKQLSFRVFSNTLLEKAFSISQLQKNHDMNDEL HLCYQFLQGKSLDILLESMMQNLKQVFEPQLLKTTSWDTAELYPFCSSIIFEITFTTIYGKVIVCDNNKFISELRDDFLK FDDKFAYLVSNIPIELLGNVKSIREKIIKCFSSEKLAKMQGWSEVFQSRQDVLEKYYVHEDLEIGAHHLGFLWASVANTI PTMFWAMYYLLRHPEAMAAVRDEIDRLLQSTGQKKGSGFPIHLTREQLDSLICLESSIFEALRLSSYSTTIRFVEEDLTL SSETGDYCVRKGDLVAIFPPVLHGDPEIFEAPEEFRYDRFIEDGKKKTTFFKRGKKLKCYLMPFGTGTSKCPGRFFALME IKQLLVILLTYFDLEIIDDKPIGLNYSRLLFGIQYPDSDVLFRYKVKS*

Gene Symbol:	CYP7B1
Accession:	NM_001324112
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	117

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGEVSAATGRFSLERLGLPGLALAAALLLLALCLLVRRTRRPGEPPLIKGWLPYLGVVLNLRKDPLRFMKTLQKQHGDT FTVLLGGKYITFILDPFQYQLVIKNHKQLSFRVFSNTLLEKAFSISQLQKNHDMNDELHLCYQFLQGKSLDILLESMMQN LKQVFEPQLLKTTSWDTAELYPFCSSIIFEITFTTIYGKVIVCDNNKFISELRDDFLKFDDKFAYLVSNIPIELLGNVKS IREKIIKCFSSEKLAKMQGWSEVFQSRQDVLEKYYVHEDLEIGAHHLGFLWASVANTIPTMFWAMYYLLRHPEAMAAVRD EIDRLLQSTGQKKGSGFPIHLTREQLDSLICLESSIFEALRLSSYSTTIRFVEEDLTLSSETGDYCVRKGDLVAIFPPVL HGDPEIFEAPEQTVLTGETRGMEITELSNLYFCTAYSREKWRRERRKIHTHILVYLIILQ*

Gene Symbol:	CYP7B1
Accession:	NM_004820
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	117

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGEVSAATGRFSLERLGLPGLALAAALLLLALCLLVRRTRRPGEPPLIKGWLPYLGVVLNLRKDPLRFMKTLQKQHGDT FTVLLGGKYITFILDPFQYQLVIKNHKQLSFRVFSNTLLEKAFSISQLQKNHDMNDELHLCYQFLQGKSLDILLESMMQN LKQVFEPQLLKTTSWDTAELYPFCSSIIFEITFTTIYGKVIVCDNNKFISELRDDFLKFDDKFAYLVSNIPIELLGNVKS IREKIIKCFSSEKLAKMQGWSEVFQSRQDVLEKYYVHEDLEIGAHHLGFLWASVANTIPTMFWAMYYLLRHPEAMAAVRD EIDRLLQSTGQKKGSGFPIHLTREQLDSLICLESSIFEALRLSSYSTTIRFVEEDLTLSSETGDYCVRKGDLVAIFPPVL HGDPEIFEAPEEFRYDRFIEDGKKKTTFFKRGKKLKCYLMPFGTGTSKCPGRFFALMEIKQLLVILLTYFDLEIIDDKPI GLNYSRLLFGIQYPDSDVLFRYKVKS*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000731165	CLINVAR
	RCV001335196	CLINVAR
	RCV002535194	CLINVAR
dbSNP (RS)	rs138977616	CLINVAR
MedGen	C0037772	CLINVAR
	C3151147	CLINVAR
	C3661900	CLINVAR
NCBI Gene	CYP7B1	CLINVAR
OMIM	603711	CLINVAR
	613812	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: RGD:13835382 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:13835382 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar