RGD:11649844 Rat Genome Database

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Variant: RGD:11649844 -  Homo sapiens

RGD ID: 11649844
RS ID: rs886063660
ClinVar ID: CV317240
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DBH  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 136,523,685
GRCh38 9 133,658,563
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.27201G>A
NC_000009.12:g.133658563G>A
NC_000009.11:g.136523685G>A
NM_000787.4:c.*116G>A
More... 		06/14/2016 3 prime utr variant uncertain significance infancy <1 / 1 000 000 Dopamine beta-hydroxylase deficiency; Dopamine beta-hydroxylase deficiency, congenital; 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:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000289786 CLINVAR
dbSNP (RS) rs886063660 CLINVAR
MedGen C4746777 CLINVAR
NCBI Gene DBH CLINVAR
OMIM 223360 CLINVAR
  609312 CLINVAR