RGD:13511897 Rat Genome Database

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Variant: RGD:13511897 -  Homo sapiens

RGD ID: 13511897
RS ID: rs1555973045
ClinVar ID: CV485821
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NR0B1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 30,326,675
GRCh38 X 30,308,558
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009814.1:g.5821T>A
NC_000023.11:g.30308558A>T
NC_000023.10:g.30326675A>T
NP_000466.2:p.Val269Asp
More... 		03/16/2011 missense variant pathogenic Adrenal hypoplasia, congenital; ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM; Isolated X-Linked Adrenal Hypoplasia Congenita; X-linked AHC
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:NR0B1
Accession:NM_000475
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 269
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGENHQWQGSILYNMLMSAKQTRAAPEAPETRLVDQCWGCSCGDEPGVGREGLLGGRNVALLYRCCFCGKDHPRQGSIL
YSMLTSAKQTYAAPKAPEATLGPCWGCSCGSDPGVGRAGLPGGRPVALLYRCCFCGEDHPRQGSILYSLLTSSKQTHVAP
AAPEARPGGAWWDRSYFAQRPGGKEALPGGRATALLYRCCFCGEDHPQQGSTLYCVPTSTNQAQAAPEERPRAPWWDTSS
GALRPVALKSPQVVCEAASAGLLKTLRFDKYLPCFQVLPLDQQLVLVRNCWASLLMLELAQDRLQFETVEVSEPSMLQKI
LTTRRRETGGNEPLPVPTLQHHLAPPAEARKVPSASQVQAIKCFLSKCWSLNISTKEYAYLKGTVLFNPDVPGLQCVKYI
QGLQWGTQQILSEHTRMTHQGPHDRFIELNSTLFLLRFINANVIAELFFRPIIGTVSMDDMMLEMLCTKI*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000583015 CLINVAR
dbSNP (RS) rs1555973045 CLINVAR
MedGen C0342482 CLINVAR
NCBI Gene NR0B1 CLINVAR
OMIM 300200 CLINVAR
  300473 CLINVAR
SNOMED CT 237764004 CLINVAR