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

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Curation:

Currentness:

EVC2 T462A

(EVC2 Thr462Ala)

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Variant evidence
Computational		-

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

C @ chr4:5642327: 1.2% (131/10758) in EVS
C @ chr4:5693227: 0.8% (1/128) in GET-Evidence
Frequency shown in summary reports: 1.2% (131/10758)

Publications

Genomes

Deleted in this revision:

Other external references

dbSNP

rs73063795
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the EVC2 gene
Ellis-van Creveld Syndrome
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EVC2

PolyPhen-2

Score: 0.489 (possibly damaging)

Web search results (0 hits -- see all)

Other in silico analyses

NBLOSUM100 score = 1
GET-Evidence autoscore = 2

Edit history

Jun 22 2011 Genome Importing Robot removed [NA19240] view
Jun 22 2011 Genome Importing Robot removed D#kgao view
Jun 22 2011 Genome Importing Robot removed !Gubi view
Mar 29 2011 Genome Importing Robot added var-GS19240-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19238-1100-36-ASM view
Feb 27 2010 Genome Importing Robot added !Gubi view
Feb 27 2010 Genome Importing Robot added D#kgao view
Dec 27 2009 Genome Importing Robot added [NA19240] view
Dec 27 2009 Genome Importing Robot added variant view

Gene search

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