RGD:28881505 Rat Genome Database

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Variant: RGD:28881505 -  Homo sapiens

RGD ID: 28881505
RS ID: rs372010353
ClinVar ID: CV901454
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DBH  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 136,516,864
GRCh38 9 133,651,742
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000787.4:c.1300G>A
NG_008645.1:g.20380G>A
NC_000009.12:g.133651742G>A
NC_000009.11:g.136516864G>A
More... 		01/12/2018 missense variant uncertain significance 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: V to M (nonsynonymous)
Amino Acid Position: 434
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPALSRWASLPGPSMREAAFMYSTAVAIFLVILVAALQGSAPRESPLPYHIPLDPEGSLELSWNVSYTQEAIHFQLLVRR
LKAGVLFGMSDRGELENADLVVLWTDGDTAYFADAWSDQKGQIHLDPQQDYQLLQVQRTPEGLTLLFKRPFGTCDPKDYL
IEDGTVHLVYGILEEPFRSLEAINGSGLQMGLQRVQLLKPNIPEPELPSDACTMEVQAPNIQIPSQETTYWCYIKELPKG
FSRHHIIKYEPIVTKGNEALVHHMEVFQCAPEMDSVPHFSGPCDSKMKPDRLNYCRHVLAAWALGAKAFYYPEEAGLAFG
GPGSSRYLRLEVHYHNPLVIEGRNDSSGIRLYYTAKLRRFNAGIMELGLVYTPVMAIPPRETAFILTGYCTDKCTQLALP
PSGIHIFASQLHTHLTGRKVVTVLVRDGREWEIMNQDNHYSPHFQEIRMLKKVVSVHPGDVLITSCTYNTEDRELATVGG
FGILEEMCVNYVHYYPQTQLELCKSAVDAGFLQKYFHLINRFNNEDVCTCPQASVSQQFTSVPWNSFNRDVLKALYSFAP
ISMHCNKSSAVRFQGEWNLQPLPKVISTLEEPTPQCPTSQGRSPAGPTVVSIGGGKG*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001167650 CLINVAR
dbSNP (RS) rs372010353 CLINVAR
MedGen C4746777 CLINVAR
NCBI Gene DBH CLINVAR
OMIM 223360 CLINVAR
  609312 CLINVAR