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NM_206933:p.Thr3835Ile

USH2A
NM_206933:c.11504C>T

Information

Variant Locale EXON59
PubMed ID (no data)
dbSNP ID rs11120616

Call

Variation chr1:215916563:G>A
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Polymorphism (Automatic) Conserved Conserved
0.21 0.055 0.926035 3.2e-05 2.706 4.94

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

2005/8600
European American Alternate Allele Count

628/4406
African American Alternate Allele Count
1000 Genomes
European

28/132
Utah residents, Northern and Western European ancestry

25/122
Toscani in Italia

29/136
British from England and Scotland

45/162
Finnish from Finland

33/116
Iberian populations in Spain
 
East Asian

13/146
Han Chinese in Beijing, China

20/148
Japanese in Toyko, Japan

7/180
Han Chinese South

13/146
Chinese Dai in Xishuangbanna

33/116
Iberian populations in Spain

7/148
Kinh in Ho Chi Minh City, Vietnam
West African

25/162
Yoruba in Ibadan, Nigeria

11/48
Luhya in Webuye, Kenya
 
Americas

17/98
African Ancestry in Southwest US

11/110
African Caribbean in Barbados

21/116
Mexican Ancestry in Los Angeles, CA

38/140
Puerto Rican in Puerto Rico

21/96
Colombian in Medellin, Colombia

10/94
Peruvian in Lima, Peru
South Asian

13/154
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes, OtoSCOPE, dbNSFP 2. Additional info from dbNSFP 2 -- More dbSNP IDs: rs52823661, rs61208500, rs11120616 | Gene full name: Usher syndrome 2A (autosomal recessive, mild) | Function description: Involved in hearing and vision. | Disease description: Defects in USH2A are the cause of retinitis pigmentosa type 39 (RP39) [MIM:613809]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP39 inheritance is autosomal recessive.

http://vvd.eng.uiowa.edu/variant/215
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