RGD:15202969 Rat Genome Database

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Variant: RGD:15202969 -  Homo sapiens

RGD ID: 15202969
RS ID: rs372641379
ClinVar ID: CV700876
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DBH  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 136,516,830
GRCh38 9 133,651,708
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.1266A>G
NG_008645.1:g.20346A>G
NC_000009.12:g.133651708A>G
NC_000009.11:g.136516830A>G
More... 		03/01/2019 synonymous variant likely benign 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: T to T (synonymous)
Amino Acid Position: 422
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPALSRWASLPGPSMREAAFMYSTAVAIFLVILVAALQGSAPRESPLPYHIPLDPEGSLELSWNVSYTQEAIHFQLLVRR
LKAGVLFGMSDRGELENADLVVLWTDGDTAYFADAWSDQKGQIHLDPQQDYQLLQVQRTPEGLTLLFKRPFGTCDPKDYL
IEDGTVHLVYGILEEPFRSLEAINGSGLQMGLQRVQLLKPNIPEPELPSDACTMEVQAPNIQIPSQETTYWCYIKELPKG
FSRHHIIKYEPIVTKGNEALVHHMEVFQCAPEMDSVPHFSGPCDSKMKPDRLNYCRHVLAAWALGAKAFYYPEEAGLAFG
GPGSSRYLRLEVHYHNPLVIEGRNDSSGIRLYYTAKLRRFNAGIMELGLVYTPVMAIPPRETAFILTGYCTDKCTQLALP
PSGIHIFASQLHTHLTGRKVVTVLVRDGREWEIVNQDNHYSPHFQEIRMLKKVVSVHPGDVLITSCTYNTEDRELATVGG
FGILEEMCVNYVHYYPQTQLELCKSAVDAGFLQKYFHLINRFNNEDVCTCPQASVSQQFTSVPWNSFNRDVLKALYSFAP
ISMHCNKSSAVRFQGEWNLQPLPKVISTLEEPTPQCPTSQGRSPAGPTVVSIGGGKG*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000958138 CLINVAR
dbSNP (RS) rs372641379 CLINVAR
MedGen C4746777 CLINVAR
NCBI Gene DBH CLINVAR
OMIM 223360 CLINVAR
  609312 CLINVAR