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:

(See the latest version)

TCOF1 A665P

(TCOF1 Ala665Pro)

You are viewing an old version of this page that was saved on December 8, 2010 at 12:49am by Genome Importing Robot.

Insufficiently evaluated not reviewed

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

unknown

Allele frequency

Deleted in this revision:

dbSNP

GeneTests

GeneTests records for the TCOF1 gene
Treacher Collins Syndrome
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TCOF1

Web search results (0 hits -- see all)

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_C07 from PGP sample 74521372 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
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_B02 from PGP sample 94378523 view
Mar 5 2012 Genome Importing Robot added hu232307 build 36 substitution variants view
Jun 22 2011 Genome Importing Robot removed [snp-3] view
Jun 22 2011 Han Luu edited variant summary view
Mar 29 2011 Genome Importing Robot added var-GS18940-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS06985-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS06994-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS07357-1100-36-ASM view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Jr. view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Sr. view
Dec 6 2010 Genome Importing Robot added hu3215A7 build 36 substitution variants view
Dec 6 2010 Genome Importing Robot added hu728FFF build 36 substitution variants view
May 12 2010 Genome Importing Robot added Henry Louis Gates Jr. view
Feb 17 2010 Genome Importing Robot added Henry Louis Gates Sr. view
Dec 27 2009 Genome Importing Robot added [snp-3] view
Dec 27 2009 Genome Importing Robot added variant view