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:

COMP Q756R

(COMP Gln756Arg)

Variant evidence
Computational	1	PolyPhen2: Benign, score 0.000 SIFT: Tolerated 1.00 GVGD: GV 42.81; GD 0.00; Class C0 Variant Effect Predictor (Ensembl): SIFT=tolerated(0.4); PolyPhen=benign(0); Condel=deleterious(0.604) Mutation Tasting Prediction: Polymorphism, P value: 0.999900; protein features (might be) affected (aa 527-757 REGION Mediates cell survival and induction of the IAP family of survival proteins gets lost)

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 COMP gene
Multiple Epiphyseal Dysplasia, Dominant
COMP-Related Multiple Epiphyseal Dysplasia
Pseudoachondroplasia
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COMP

Web search results (0 hits -- see all)

Jul 28 2011 Han Luu edited variant summary view
Jun 23 2011 Genome Importing Robot removed [NA19129] view
Jun 22 2011 Genome Importing Robot removed D#kgao view
Jun 22 2011 Genome Importing Robot removed !Gubi view
Jun 22 2011 Genome Importing Robot removed !Ai view
Mar 29 2011 Genome Importing Robot added var-GS21767-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19700-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19239-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19129-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19026-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19025-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18505-1100-36-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 27 2010 Genome Importing Robot added !Gubi view
Feb 27 2010 Genome Importing Robot added D#kgao view
Feb 27 2010 Genome Importing Robot added !Ai view
Feb 17 2010 Genome Importing Robot added Henry Louis Gates Sr. view
Dec 27 2009 Genome Importing Robot added [NA19129] view
Dec 27 2009 Genome Importing Robot added variant view