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.

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Curation:

Currentness:

ALDH4A1 T528N

(ALDH4A1 Thr528Asn)

You are viewing the latest version of this page, saved on May 23, 2013 at 5:26pm by Paul Szauter.

Edited in this revision:

Variant evidence
Computational	1	PolyPhen-2 predicts ALDH4A1-T528N to be PROBABLY DAMAGING with a score of 0.997 (sensitivity: 0.41; specificity: 0.98).

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 ALDH4A1 gene
Hyperprolinemia, Type II
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALDH4A1

PolyPhen-2

May 23 2013 Paul Szauter edited variant summary view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_B05 from PGP sample 86486261 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_B01_200_37 view
Dec 5 2010 Genome Importing Robot added variant view