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NM_001142800:p.Leu1748Phe

EYS
NM_001142800:c.5244A>C

Information

Variant Locale EXON26
PubMed ID (no data)
dbSNP ID rs57312007

Call

Variation chr6:65300516:T>G
Pathogenicity
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Unknown Unknown Non-conserved Non-conserved
0.35 0.4 -0.878 -7.63

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

422/3180
European American Alternate Allele Count

114/1384
African American Alternate Allele Count
1000 Genomes
European

4/46
Utah residents, Northern and Western European ancestry

2/66
Toscani in Italia

12/46
British from England and Scotland

7/32
Finnish from Finland

1/16
Iberian populations in Spain
 
East Asian

(No data)
Han Chinese in Beijing, China

1/34
Japanese in Toyko, Japan

(No data)
Han Chinese South

(No data)
Chinese Dai in Xishuangbanna

1/16
Iberian populations in Spain

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

2/44
Yoruba in Ibadan, Nigeria

(No data)
Luhya in Webuye, Kenya
 
Americas

5/56
African Ancestry in Southwest US

(No data)
African Caribbean in Barbados

2/62
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

(No data)
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 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/2002
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