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NM_198283:p.Thr120Met

EYS
NM_198283:c.359C>T

Information

Variant Locale EXON3
PubMed ID (no data)
dbSNP ID rs12193967

Call

Variation chr6:66204945:G>A
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Damaging Benign Unknown Polymorphism (Automatic) Non-conserved Non-conserved
0.04 0.063 4.3e-05 -0.672 -1.74

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

1891/8600
European American Alternate Allele Count

198/4406
African American Alternate Allele Count
1000 Genomes
European

34/132
Utah residents, Northern and Western European ancestry

33/122
Toscani in Italia

31/136
British from England and Scotland

38/162
Finnish from Finland

28/116
Iberian populations in Spain
 
East Asian

40/146
Han Chinese in Beijing, China

34/148
Japanese in Toyko, Japan

48/180
Han Chinese South

38/146
Chinese Dai in Xishuangbanna

28/116
Iberian populations in Spain

32/148
Kinh in Ho Chi Minh City, Vietnam
West African

1/162
Yoruba in Ibadan, Nigeria

1/48
Luhya in Webuye, Kenya
 
Americas

3/98
African Ancestry in Southwest US

3/110
African Caribbean in Barbados

16/116
Mexican Ancestry in Los Angeles, CA

36/140
Puerto Rican in Puerto Rico

18/96
Colombian in Medellin, Colombia

29/94
Peruvian in Lima, Peru
South Asian

44/154
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes, dbNSFP 2. Additional info from dbNSFP 2 -- More dbSNP IDs: rs52829139, rs58893692, rs12193967 | 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/2007
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