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:

CACNA1C K1845R

(CACNA1C Lys1845Arg)

Variant evidence
Computational	1	PolyPhen2: Benign, score 0.000 SIFT: Affect protein function 0.00 GVGD: GV 353.86; GD 0.00; Class C0 Variant Effect Predictor (Ensembl): SIFT=tolerated(0.54); PolyPhen=benign(0); Condel=deleterious(0.469) Mutation Tasting Prediction: Polymorphism, P value: 0.999999; protein features (might be) affected (aa 1515-2221 TOPO_DOM Cytoplasmic (potential) 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

None available.

Publications

Genomes

Other external references

GeneTests

GeneTests records for the CACNA1C gene
Timothy Syndrome
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CACNA1C

Web search results (0 hits -- see all)

Other in silico analyses

NBLOSUM100 score = –3
GET-Evidence autoscore = 3

Edit history

Jul 20 2011 Han Luu edited variant summary view
Jun 30 2011 Genome Importing Robot removed CGI sample GS00253-DNA_A01_200_37 view
Jun 30 2011 Genome Importing Robot removed CGI sample GS00253-DNA_G01_200_37 view
Jun 30 2011 Genome Importing Robot removed CGI sample GS00253-DNA_B02_200_37 view
Jun 30 2011 Genome Importing Robot removed CGI sample GS00253-DNA_D01_200_37 view
Jun 30 2011 Genome Importing Robot removed CGI sample GS00253-DNA_C01_200_37 view
Jun 30 2011 Genome Importing Robot removed CGI sample GS00253-DNA_F01_200_37 view
Jun 30 2011 Genome Importing Robot removed CGI sample GS00253-DNA_B01_200_37 view
Jun 30 2011 Genome Importing Robot removed CGI sample GS00253-DNA_E01_200_37 view
Jun 30 2011 Genome Importing Robot removed CGI sample GS00253-DNA_H01_200_37 view
Jun 30 2011 Genome Importing Robot removed CGI sample GS00253-DNA_A02_200_37 view
Jun 23 2011 Genome Importing Robot removed James D. Watson view
Jun 23 2011 Genome Importing Robot removed [NA18507] view
Jun 23 2011 Genome Importing Robot removed [NA07022] view
Jun 22 2011 Genome Importing Robot removed Stephen Quake view
Jun 22 2011 Genome Importing Robot removed J. Craig Venter view
Jun 22 2011 Genome Importing Robot removed [NA19240] view
Jun 22 2011 Genome Importing Robot removed [snp-3] view
Jun 22 2011 Genome Importing Robot removed !Gubi view
Jun 22 2011 Genome Importing Robot removed Desmond Tutu view
Jun 22 2011 Genome Importing Robot removed [snp-2] view
Jun 22 2011 Genome Importing Robot removed Seong-Jin Kim view
Jun 10 2011 Han Luu edited variant summary view
Mar 29 2011 Genome Importing Robot removed hu3215A7 build 36 substitution variants 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
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_B02_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_A02_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_H01_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_G01_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_F01_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_E01_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_C01_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_B01_200_37 view
May 12 2010 Genome Importing Robot added Henry Louis Gates Jr. view
May 8 2010 Genome Importing Robot added [NA19240] view
Feb 27 2010 Genome Importing Robot added !Gubi view
Feb 27 2010 Genome Importing Robot added Desmond Tutu view
Feb 26 2010 Genome Importing Robot added CGI sample GS00253-DNA_D01_200_37 view
Feb 17 2010 Genome Importing Robot added Henry Louis Gates Sr. view
Dec 27 2009 Genome Importing Robot added CGI sample GS00253-DNA_A01_200_37 view
Dec 27 2009 Genome Importing Robot added [NA07022] view
Dec 27 2009 Genome Importing Robot added Stephen Quake view
Dec 27 2009 Genome Importing Robot added J. Craig Venter view
Dec 27 2009 Genome Importing Robot added [NA18507] view
Dec 27 2009 Genome Importing Robot added [snp-3] view
Dec 27 2009 Genome Importing Robot added [snp-2] view
Dec 27 2009 Genome Importing Robot added James D. Watson view
Dec 27 2009 Genome Importing Robot added Seong-Jin Kim view
Dec 27 2009 Genome Importing Robot added variant view

CACNA1C K1845R - GET-Evidence