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Curation:

Currentness:

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ENPP1 R774C

(ENPP1 Arg774Cys)

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Edited in this revision:

Variant evidence
Computational		-

Functional		-

Case/Control		-

Familial		-


Clinical importance
Severity		-

Treatability		-

Penetrance		-

Insufficiently evaluated pathogenic

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

unknown

dbSNP reports that this variant has 5% allele frequency in a 120 chromosome low-coverage CEU panel (1000 genomes) and 2.6% in a mixed panel of Caucasian & African American samples. Lorenz-Depiereux et al. point to this as suggesting that the variant is a non-pathogenic polymorphism.

http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28933977

The predicted incidence of homozygotes (1 in 400) vs. the incidence of the disease (quite rare) implies that this variant is not causal.

Allele frequency

T @ chr6:132206079: 2.6% (278/10758) in EVS
Frequency shown in summary reports: 2.6% (278/10758)

Publications

Genomes

Other external references

OMIM

Arterial calcification, generalized, of infancy
www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173335

PolyPhen-2

Score: 0.746 (possibly damaging)

Other in silico analyses

NBLOSUM100 score = 8
GET-Evidence autoscore = 3

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B05 from PGP sample 83494370 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F06 from PGP sample 64191565 view
Jun 22 2011 Genome Importing Robot added PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) view
May 2 2011 Madeleine Ball edited article 12881724 summary view
May 2 2011 Madeleine Ball edited variant summary view
May 2 2011 Madeleine Ball edited variant summary view
May 2 2011 Madeleine Ball edited article 12881724 summary view
May 2 2011 Madeleine Ball edited article 20137773 summary view
May 2 2011 Madeleine Ball edited variant summary view
May 2 2011 Madeleine Ball added article 12881724 view
May 2 2011 Madeleine Ball edited article 20137773 summary view
May 2 2011 Madeleine Ball edited variant summary view
May 2 2011 Madeleine Ball added article 20137773 view
Jan 5 2010 OMIM Importing Robot edited variant summary view
Jan 5 2010 OMIM Importing Robot added variant view

ENPP1 R774C - GET-Evidence