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:

PHKG2 S261C

(PHKG2 Ser261Cys)

Insufficiently evaluated not reviewed

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

unknown

Allele frequency

GeneTests

GeneTests records for the PHKG2 gene
Glycogen Storage Disease TypeIX
PHKG2-Related Glycogen Storage Disease Type IX
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PHKG2

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_D02 from PGP sample 27316983 view
Nov 29 2012 Genome Importing Robot added variant view