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NM_025114:p.Ala685Ala

CEP290
NM_025114:c.2055T>C

Information

Variant Locale EXON21
PubMed ID (no data)
dbSNP ID rs45465996

Call

Variation chr12:88505633:A>G
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Unknown Unknown Unknown Non-conserved Conserved
0.05 -0.126 0.62

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

1438/8110
European American Alternate Allele Count

177/3556
African American Alternate Allele Count
1000 Genomes
European

16/100
Utah residents, Northern and Western European ancestry

28/92
Toscani in Italia

8/82
British from England and Scotland

6/86
Finnish from Finland

16/62
Iberian populations in Spain
 
East Asian

(No data)
Han Chinese in Beijing, China

(No data)
Japanese in Toyko, Japan

(No data)
Han Chinese South

(No data)
Chinese Dai in Xishuangbanna

16/62
Iberian populations in Spain

(No data)
Kinh in Ho Chi Minh City, Vietnam
West African

4/130
Yoruba in Ibadan, Nigeria

(No data)
Luhya in Webuye, Kenya
 
Americas

1/98
African Ancestry in Southwest US

6/86
African Caribbean in Barbados

8/116
Mexican Ancestry in Los Angeles, CA

10/112
Puerto Rican in Puerto Rico

10/76
Colombian in Medellin, Colombia

4/66
Peruvian in Lima, Peru
South Asian

3/136
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes, dbNSFP 2. Additional info from dbNSFP 2 -- More dbSNP IDs: rs62638181 | Gene full name: centrosomal protein 290kDa | Function description: Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Activates ATF4-mediated transcription. Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes. | Disease description: Defects in CEP290 are the cause of Bardet-Biedl syndrome type 14 (BBS14) [MIM:209900]. A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for disease manifestation in some cases (triallelic inheritance).

http://vvd.eng.uiowa.edu/variant/1212
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