Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:

Currentness:

CACNA1C P1820L

(CACNA1C Pro1820Leu)

Variant evidence
Computational	2	PolyPhen: Benign, score 0.01 SIFT: Tolerated 0.98 GVGD: GV 353.86; GD 0.00; Class C0 Variant Effect Predictor (Ensembl ): SIFT=tolerated(0.2); PolyPhen=unknown(0) Mutation Tasting Prediction: Polymorphism, P value: 0. 999732; protein features (might be) affected (aa 1525-2221 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 (5 hits -- see all)

Full database search - Zhejiang University-Adinovo Center for ...
The patient also had 2 SNPs in CACNA1C: P1820L and V1821M. ... CACNA1C DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Type: Type of variant at ...
china-hvp.org/LOVD/variants.php?select_db=CACNA1C&.../DNA=c.
Loss-of-Function Mutations in the Cardiac Calcium Channel ...
CACNA1C was transfected as either (EYFP)N1C,77 or pcDNA3-CACNA1C. ... Patient 2 also had 2 polymorphisms in CACNA1C, P1820L and V1821M, which were found in 31 ...
intl-circ.ahajournals.org/cgi/content/full/115/4/442
OMIM: 114205
CACNA1C with the alternate 16-amino acid N-terminal segment was ... The proband also carried 2 polymorphisms in CACNA1C, P1820L and V1821M, which were found in 31 and 27 of 114 ...
www.genome.jp/dbget-bin/www_bget?omim+114205
6th. Virtual Congress of Cardiology
The proband also carried 2 polymorphisms in CACNA1C, P1820L and V1821M, which were found in 31 and 27 of 114 healthy controls, respectively. ...
www.fac.org.ar/6cvc/llave/c043/rieraa.php

Other in silico analyses

NBLOSUM100 score = 7
GET-Evidence autoscore = 4

Edit history

Jul 6 2011 Han Luu edited variant summary view
Jun 23 2011 Genome Importing Robot removed James D. Watson view
Jun 22 2011 Genome Importing Robot removed Stephen Quake view
Jun 22 2011 Genome Importing Robot removed [NA18507] view
Jun 22 2011 Genome Importing Robot removed [snp-3] 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 7 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 6 2010 Genome Importing Robot removed CGI sample GS00253-DNA_D01_200_37 view
May 12 2010 Genome Importing Robot added Henry Louis Gates Jr. 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 Stephen Quake 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 P1820L - GET-Evidence