Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:

Currentness:

DBH G482R

(DBH Gly482Arg)

Variant evidence
Computational	1	PolyPhen-2 reports DBH-G482R to be POSSIBLY DAMAGING with a score of 0.938 (sensitivity: 0.80; specificity: 0.94).

Functional	-

Case/Control	-

Familial	-


Clinical importance
Severity	-

Treatability	-

Penetrance	-

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

recessive

Allele frequency

dbSNP

GeneTests

GeneTests records for the DBH gene
Dopamine Beta-Hydroxylase Deficiency
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DBH

Aug 6 2013 Paul Szauter edited variant summary view
Jul 22 2013 Paul Szauter edited variant summary view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_B05 from PGP sample 86486261 view
Nov 29 2012 Genome Importing Robot added variant view