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NM_198283:p.Gln571Arg

EYS
NM_198283:c.1712A>G

Information

Variant Locale EXON10
PubMed ID (no data)
dbSNP ID rs61753610

Call

Variation chr6:66044927:T>C
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Unknown Polymorphism Non-conserved Conserved
0.46 0.218 1e-06 0.326 2.23

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

1485/8600
European American Alternate Allele Count

148/4406
African American Alternate Allele Count
1000 Genomes
European

17/132
Utah residents, Northern and Western European ancestry

24/122
Toscani in Italia

26/136
British from England and Scotland

31/162
Finnish from Finland

22/116
Iberian populations in Spain
 
East Asian

13/146
Han Chinese in Beijing, China

16/148
Japanese in Toyko, Japan

27/180
Han Chinese South

9/146
Chinese Dai in Xishuangbanna

22/116
Iberian populations in Spain

24/148
Kinh in Ho Chi Minh City, Vietnam
West African

(No data)
Yoruba in Ibadan, Nigeria

(No data)
Luhya in Webuye, Kenya
 
Americas

5/98
African Ancestry in Southwest US

2/110
African Caribbean in Barbados

24/116
Mexican Ancestry in Los Angeles, CA

16/140
Puerto Rican in Puerto Rico

20/96
Colombian in Medellin, Colombia

15/94
Peruvian in Lima, Peru
South Asian

25/154
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/2005
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