RGD:28870497 Rat Genome Database

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Variant: RGD:28870497 -  Homo sapiens

RGD ID: 28870497
RS ID: rs915400542
ClinVar ID: CV899439
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STAR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 38,000,861
GRCh38 8 38,143,343
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.11:g.38143343G>A
NC_000008.10:g.38000861G>A
NM_000349.2:c.*930C>T
NM_000349.3:c.*930C>T
More... 		01/12/2018 3 prime utr variant uncertain significance ADRENAL HYPERPLASIA I; Cholesterol monooxygenase (side-chain cleaving) deficiency; Congenital lipoid adrenal hyperplasia; Lipoid adrenal hyperplasia; Lipoid CAH; Lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:STAR
Accession:NM_000349
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001163549 CLINVAR
dbSNP (RS) rs915400542 CLINVAR
MedGen C0342474 CLINVAR
NCBI Gene STAR CLINVAR
OMIM 201710 CLINVAR
  600617 CLINVAR
SNOMED CT 44231009 CLINVAR