RELN P672L

(RELN Pro672Leu)

You are viewing the latest version of this page, saved on February 23, 2017 at 7:00am by Madeleine Ball.

View the previous version
View this version without highlighted changes

Edited in this revision:

Reported by ClinVar to cause familial temporal lobe epilepsy (https://www.ncbi.nlm.nih.gov/clinvar/variation/208481/). In ClinVar this variant is reported as “pathogenic” (causing this condition) by a single source, GeneReviews, which cites their article written by Ruth Ottman: https://www.ncbi.nlm.nih.gov/books/NBK1537/

This variant is somewhat rare according to ExAC data, potentially consistent with the reported disease-causing hypothesis (http://exac.broadinstitute.org/variant/7-103281044-G-A).

Variant evidence
Computational	-

Functional	-

Case/Control		Evidence unknown.
		Evidence unknown.
Familial		Evidence unknown.
		Evidence unknown.

Clinical importance
Severity	3

Treatability	3

Penetrance	5

Moderate clinical importance, Uncertain pathogenic

(The "moderate clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)

dominant

Allele frequency

None available.

Publications

Genomes

Other in silico analyses

NBLOSUM100 score = 7
GET-Evidence autoscore = 1

Edit history

Feb 23 2017 Madeleine Ball edited variant summary view
Feb 23 2017 Madeleine Ball added variant view

RELN P672L - GET-Evidence