RGD:13832878 Rat Genome Database

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Variant: RGD:13832878 -  Homo sapiens

RGD ID: 13832878
RS ID: rs189424028
ClinVar ID: CV584103
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP7A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 59,410,952
GRCh38 8 58,498,393
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_055430.1:g.48G>A
NG_007969.1:g.6770C>T
NC_000008.11:g.58498393G>A
NC_000008.10:g.59410952G>A
More... 		12/05/2023 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CYP7A1
Accession:NM_000780
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMTTSLIWGIAIAACCCLWLILGIRRRQTGEPPLENGLIPYLGCALQFGANPFEFLRANQRKHGHVFTCKLMGKYVHFIT
NPLSYHKVLCHGKYFDWKKFHFATSAKAFGHRSIDPMDGNTTENINDTFIKTLQGHALNSLTESMMENLQRIMRPPVSSN
SKTAAWVTEGMYSFCYRVMFEAGYLTIFGRDLTRRDTQKAHILNNLDNFKQFDKVFPALVAGLPIHMFRTAHNAREKLAE
SLRHENLQKRESISELISLRMFLNDTLSTFDDLEKAKTHLVVLWASQANTIPATFWSLFQMIRNPEAMKAATEEVKRTLE
NAGQKVSLEGNPICLSQAELNDLPVLDSIIKESLRLSSASLNIRTAKEDFTLHLEDGSYNIRKDDIIALYPQLMHLDPEI
YPDPLTFKYDRYLDENGKTKTTFYCNGLKLKYYYMPFGSGATICPGRLFAIHEIKQFLILMLSYFELELIEGQAKCPPLD
QSRAGLGILPPLNDIEFKYKFKHL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000727970 CLINVAR
dbSNP (RS) rs189424028 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CYP7A1 CLINVAR
OMIM 118455 CLINVAR