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NM_001142800:p.Leu852Pro

EYS
NM_001142800:c.2555T>C

Information

Variant Locale EXON16
PubMed ID (no data)
dbSNP ID rs9294631

Call

Variation chr6:65622463:A>G
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Unknown Non-conserved Conserved
0.82 0 0.810023 0.094 3.08

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

1831/3182
European American Alternate Allele Count

1215/1384
African American Alternate Allele Count
1000 Genomes
European

32/52
Utah residents, Northern and Western European ancestry

40/76
Toscani in Italia

46/66
British from England and Scotland

36/66
Finnish from Finland

22/34
Iberian populations in Spain
 
East Asian

19/78
Han Chinese in Beijing, China

27/54
Japanese in Toyko, Japan

22/44
Han Chinese South

26/58
Chinese Dai in Xishuangbanna

22/34
Iberian populations in Spain

17/46
Kinh in Ho Chi Minh City, Vietnam
West African

65/66
Yoruba in Ibadan, Nigeria

12/12
Luhya in Webuye, Kenya
 
Americas

49/56
African Ancestry in Southwest US

22/24
African Caribbean in Barbados

35/66
Mexican Ancestry in Los Angeles, CA

38/58
Puerto Rican in Puerto Rico

17/34
Colombian in Medellin, Colombia

19/28
Peruvian in Lima, Peru
South Asian

3/10
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: rs59157154, rs9294631 | 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/2004
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