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NM_206933:p.Leu2886Phe

USH2A
NM_206933:c.8656C>T

Information

Variant Locale EXON43
PubMed ID (no data)
dbSNP ID rs41277200

Call

Variation chr1:216051125:G>A
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Polymorphism Conserved Conserved
0.25 0 0.000293 1e-06 1.063 5.9

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

328/8600
European American Alternate Allele Count

275/4406
African American Alternate Allele Count
1000 Genomes
European

7/132
Utah residents, Northern and Western European ancestry

2/122
Toscani in Italia

8/136
British from England and Scotland

3/162
Finnish from Finland

5/116
Iberian populations in Spain
 
East Asian

22/146
Han Chinese in Beijing, China

15/148
Japanese in Toyko, Japan

23/180
Han Chinese South

25/146
Chinese Dai in Xishuangbanna

5/116
Iberian populations in Spain

36/148
Kinh in Ho Chi Minh City, Vietnam
West African

13/162
Yoruba in Ibadan, Nigeria

(No data)
Luhya in Webuye, Kenya
 
Americas

6/98
African Ancestry in Southwest US

2/110
African Caribbean in Barbados

8/116
Mexican Ancestry in Los Angeles, CA

7/140
Puerto Rican in Puerto Rico

2/96
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 -- 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/231
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