RGD:11612059 Rat Genome Database

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Variant: RGD:11612059 -  Homo sapiens

RGD ID: 11612059
RS ID: rs148439785
ClinVar ID: CV317607
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DBH  DBH-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 136,521,726
GRCh38 9 133,656,604
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
NM_000787.4:c.1516G>A
NM_000787.3:c.1516G>A
NG_008645.1:g.25242G>A
NC_000009.12:g.133656604G>A
More... 		08/14/2020 missense 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:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 506
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPALSRWASLPGPSMREAAFMYSTAVAIFLVILVAALQGSAPRESPLPYHIPLDPEGSLELSWNVSYTQEAIHFQLLVRR
LKAGVLFGMSDRGELENADLVVLWTDGDTAYFADAWSDQKGQIHLDPQQDYQLLQVQRTPEGLTLLFKRPFGTCDPKDYL
IEDGTVHLVYGILEEPFRSLEAINGSGLQMGLQRVQLLKPNIPEPELPSDACTMEVQAPNIQIPSQETTYWCYIKELPKG
FSRHHIIKYEPIVTKGNEALVHHMEVFQCAPEMDSVPHFSGPCDSKMKPDRLNYCRHVLAAWALGAKAFYYPEEAGLAFG
GPGSSRYLRLEVHYHNPLVIEGRNDSSGIRLYYTAKLRRFNAGIMELGLVYTPVMAIPPRETAFILTGYCTDKCTQLALP
PSGIHIFASQLHTHLTGRKVVTVLVRDGREWEIVNQDNHYSPHFQEIRMLKKVVSVHPGDVLITSCTYNTEDRELATVGG
FGILEEMCVNYVHYYPQTQLELCKSTVDAGFLQKYFHLINRFNNEDVCTCPQASVSQQFTSVPWNSFNRDVLKALYSFAP
ISMHCNKSSAVRFQGEWNLQPLPKVISTLEEPTPQCPTSQGRSPAGPTVVSIGGGKG*

Gene Symbol:DBH-AS1
Accession:NR_102735
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000403409 CLINVAR
dbSNP (RS) rs148439785 CLINVAR
MedGen C4746777 CLINVAR
NCBI Gene DBH CLINVAR
  DBH-AS1 CLINVAR
OMIM 223360 CLINVAR
  609312 CLINVAR