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

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Curation:

Currentness:

BCKDHA T151M

(BCKDHA Thr151Met)

You are viewing the latest version of this page, saved on May 21, 2013 at 4:32pm by Paul Szauter.

Edited in this revision:

Variant evidence
Computational	1	PolyPhen-2 predicts BCKDHA-T151M to be PROBABLY DAMAGING with a score of 0.963 (sensitivity: 0.78; specificity: 0.95).

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.)

unknown

Allele frequency

dbSNP

GeneTests

GeneTests records for the BCKDHA gene
Maple Syrup Urine Disease
Maple Syrup Urine Disease Type 1A
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BCKDHA

PolyPhen-2

Web search results (0 hits -- see all)

May 21 2013 Paul Szauter edited variant summary view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_C05 from PGP sample 42408046 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_B05 from PGP sample 86486261 view
Jun 23 2011 Genome Importing Robot removed [NA12878] view
Dec 27 2009 Genome Importing Robot added [NA12878] view
Dec 27 2009 Genome Importing Robot added variant view