RGD:156019977 Rat Genome Database

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Variant: RGD:156019977 -  Homo sapiens

RGD ID: 156019977
ClinVar ID: CV1915006
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP7A1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 59,409,601
GRCh38 8 58,497,042
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000780.4:c.470T>C
NG_007969.1:g.8121T>C
NC_000008.11:g.58497042A>G
NC_000008.10:g.59409601A>G
More... 		09/22/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CYP7A1
Accession:NM_000780
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 157
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMTTSLIWGIAIAACCCLWLILGIRRRQTGEPPLENGLIPYLGCALQFGANPLEFLRANQRKHGHVFTCKLMGKYVHFIT
NPLSYHKVLCHGKYFDWKKFHFATSAKAFGHRSIDPMDGNTTENINDTFIKTLQGHALNSLTESMMENLQRIMRPPASSN
SKTAAWVTEGMYSFCYRVMFEAGYLTIFGRDLTRRDTQKAHILNNLDNFKQFDKVFPALVAGLPIHMFRTAHNAREKLAE
SLRHENLQKRESISELISLRMFLNDTLSTFDDLEKAKTHLVVLWASQANTIPATFWSLFQMIRNPEAMKAATEEVKRTLE
NAGQKVSLEGNPICLSQAELNDLPVLDSIIKESLRLSSASLNIRTAKEDFTLHLEDGSYNIRKDDIIALYPQLMHLDPEI
YPDPLTFKYDRYLDENGKTKTTFYCNGLKLKYYYMPFGSGATICPGRLFAIHEIKQFLILMLSYFELELIEGQAKCPPLD
QSRAGLGILPPLNDIEFKYKFKHL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002636661 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CYP7A1 CLINVAR
OMIM 118455 CLINVAR