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NM_198283:p.Val112Ile

EYS
NM_198283:c.334G>A

Information

Variant Locale EXON3
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr6:66204970:C>T
Pathogenicity
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Unknown Polymorphism Non-conserved Conserved
0.23 0 4e-06 -0.077 0.626

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

51/8600
European American Alternate Allele Count

2/4406
African American Alternate Allele Count
1000 Genomes
European

(No data)
Utah residents, Northern and Western European ancestry

1/122
Toscani in Italia

(No data)
British from England and Scotland

(No data)
Finnish from Finland

(No data)
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

(No data)
Iberian populations in Spain

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

(No data)
Yoruba in Ibadan, Nigeria

(No data)
Luhya in Webuye, Kenya
 
Americas

(No data)
African Ancestry in Southwest US

1/110
African Caribbean in Barbados

(No data)
Mexican Ancestry in Los Angeles, CA

(No data)
Puerto Rican in Puerto Rico

(No data)
Colombian in Medellin, Colombia

(No data)
Peruvian in Lima, Peru
South Asian

5/154
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes, dbNSFP 2. Additional info from dbNSFP 2 -- Gene full name: eyes shut homolog (Drosophila) | Function description: Required to maintain the integrity of photoreceptor cells. | Disease description: Defects in EYS are the cause of retinitis pigmentosa type 25 (RP25) [MIM:602772]. RP leads to degeneration of retinal photoreceptor cells. Patients suffer from night blindness, beginning at approximately 25 years of age, and deterioration of visual acuity (central vision), beginning at approximately 30 years of age. By age 55 to 60 years, many affected subjects have no perception of light in either eye.

http://vvd.eng.uiowa.edu/variant/2008
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