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NM_000330:p.Asn99Asp

RS1
NM_000330:c.295A>G

Information

Variant Locale EXON4
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chrX:18665342:T>C
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Possibly Damaging Deleterious Disease Causing Conserved Conserved
0.2 0.852 9e-06 0.986456 1.813 5.43

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

1/6728
European American Alternate Allele Count

260/3835
African American Alternate Allele Count
1000 Genomes
European

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

(No data)
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

15/162
Yoruba in Ibadan, Nigeria

1/48
Luhya in Webuye, Kenya
 
Americas

5/98
African Ancestry in Southwest US

2/110
African Caribbean in Barbados

(No data)
Mexican Ancestry in Los Angeles, CA

2/140
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, 1000 Genomes, dbNSFP 2. Additional info from dbNSFP 2 -- Gene full name: retinoschisin 1 | Function description: May be active in cell adhesion processes during retinal development. | Disease description: Defects in RS1 are the cause of retinoschisis juvenile X- linked type 1 (XLRS1) [MIM:312700]. A vitreo-retinal dystrophy characterized by macular pathology and by splitting of the superficial layer of the retina. Macular changes are present in almost all cases. In the fundi, radially oriented intraretinal foveomacular cysts are seen in a spoke-wheel configuration, with the absence of foveal reflex in most cases. In addition, approximately half of cases have bilateral peripheral retinoschisis in the inferotemporal part of the retina. Aside from the typical fundus appearance, strabismus, nystagmus, axial hyperopia, defective color vision and foveal ectopy can be present. The most important complications are vitreous hemorrhage, retinal detachment, and neovascular glaucoma.

http://vvd.eng.uiowa.edu/variant/2074
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