RGD:10448399 Rat Genome Database

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Variant: RGD:10448399 -  Homo sapiens

RGD ID: 10448399
RS ID: rs1108580
ClinVar ID: CV214410
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DBH  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 136,505,114
GRCh38 9 133,639,992
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008645.1:g.8630A>G
NC_000009.12:g.133639992A>G
NC_000009.11:g.136505114A>G
NP_000778.3:p.Glu162Glu
More... 		07/30/2021 synonymous variant benign infancy|neonatal <1 / 1 000 000 AllHighlyPenetrant; Dopamine beta-hydroxylase deficiency; Dopamine beta-hydroxylase deficiency, congenital; none provided; Noradrenaline deficiency; Norepinephrine deficiency; Orthostatic hypotension 1, due to DBH deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DBH
Accession:NM_000787
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000201821 CLINVAR
  RCV001529259 CLINVAR
  RCV001682914 CLINVAR
dbSNP (RS) rs1108580 CLINVAR
MedGen C3661900 CLINVAR
  C4746777 CLINVAR
  CN169374 CLINVAR
NCBI Gene DBH CLINVAR
OMIM 223360 CLINVAR
  609312 CLINVAR