RGD:11601001 Rat Genome Database

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Variant: RGD:11601001 -  Homo sapiens

RGD ID: 11601001
RS ID: rs76819676
ClinVar ID: CV317191
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DBH  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 136,507,375
GRCh38 9 133,642,253
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.10891G>A
NC_000009.12:g.133642253G>A
NC_000009.11:g.136507375G>A
NP_000778.3:p.Arg178Gln
More... 		12/31/2019 missense variant benign|conflicting interpretations of pathogenicity|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:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPALSRWASLPGPSMREAAFMYSTAVAIFLVILVAALQGSAPRESPLPYHIPLDPEGSLELSWNVSYTQEAIHFQLLVRR
LKAGVLFGMSDRGELENADLVVLWTDGDTAYFADAWSDQKGQIHLDPQQDYQLLQVQRTPEGLTLLFKRPFGTCDPKDYL
IEDGTVHLVYGILEEPFQSLEAINGSGLQMGLQRVQLLKPNIPEPELPSDACTMEVQAPNIQIPSQETTYWCYIKELPKG
FSRHHIIKYEPIVTKGNEALVHHMEVFQCAPEMDSVPHFSGPCDSKMKPDRLNYCRHVLAAWALGAKAFYYPEEAGLAFG
GPGSSRYLRLEVHYHNPLVIEGRNDSSGIRLYYTAKLRRFNAGIMELGLVYTPVMAIPPRETAFILTGYCTDKCTQLALP
PSGIHIFASQLHTHLTGRKVVTVLVRDGREWEIVNQDNHYSPHFQEIRMLKKVVSVHPGDVLITSCTYNTEDRELATVGG
FGILEEMCVNYVHYYPQTQLELCKSAVDAGFLQKYFHLINRFNNEDVCTCPQASVSQQFTSVPWNSFNRDVLKALYSFAP
ISMHCNKSSAVRFQGEWNLQPLPKVISTLEEPTPQCPTSQGRSPAGPTVVSIGGGKG*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000278551 CLINVAR
dbSNP (RS) rs76819676 CLINVAR
MedGen C4746777 CLINVAR
NCBI Gene DBH CLINVAR
OMIM 223360 CLINVAR
  609312 CLINVAR