RGD:408380321 Rat Genome Database

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Variant: RGD:408380321 -  Homo sapiens

RGD ID: 408380321
ClinVar ID: CV3513513
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP7A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 59,409,667
GRCh38 8 58,497,108
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.404G>A
NG_007969.1:g.8055G>A
NC_000008.11:g.58497108C>T
NC_000008.10:g.59409667C>T
More... 		06/12/2024 missense variant uncertain significance CYP7A1-related condition

Variant Details
Variant Transcripts
Gene Symbol:CYP7A1
Accession:NM_000780
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMTTSLIWGIAIAACCCLWLILGIRRRQTGEPPLENGLIPYLGCALQFGANPLEFLRANQRKHGHVFTCKLMGKYVHFIT
NPLSYHKVLCHGKYFDWKKFHFATSAKAFGHRSIDPMDGNTTENINDTFIKTLQDHALNSLTESMMENLQRIMRPPVSSN
SKTAAWVTEGMYSFCYRVMFEAGYLTIFGRDLTRRDTQKAHILNNLDNFKQFDKVFPALVAGLPIHMFRTAHNAREKLAE
SLRHENLQKRESISELISLRMFLNDTLSTFDDLEKAKTHLVVLWASQANTIPATFWSLFQMIRNPEAMKAATEEVKRTLE
NAGQKVSLEGNPICLSQAELNDLPVLDSIIKESLRLSSASLNIRTAKEDFTLHLEDGSYNIRKDDIIALYPQLMHLDPEI
YPDPLTFKYDRYLDENGKTKTTFYCNGLKLKYYYMPFGSGATICPGRLFAIHEIKQFLILMLSYFELELIEGQAKCPPLD
QSRAGLGILPPLNDIEFKYKFKHL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004754087 CLINVAR
NCBI Gene CYP7A1 CLINVAR
OMIM 118455 CLINVAR