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NM_206933:p.Gly4838Glu

USH2A
NM_206933:c.14513G>A

Information

Variant Locale EXON66
PubMed ID (no data)
dbSNP ID rs41315587

Call

Variation chr1:215821939:C>T
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Polymorphism Non-conserved Conserved
1 0 0.151678 3e-06 0.397 4.48

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

31/8600
European American Alternate Allele Count

208/4406
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

2/146
Han Chinese in Beijing, China

14/148
Japanese in Toyko, Japan

6/180
Han Chinese South

3/146
Chinese Dai in Xishuangbanna

(No data)
Iberian populations in Spain

3/148
Kinh in Ho Chi Minh City, Vietnam
West African

10/162
Yoruba in Ibadan, Nigeria

3/48
Luhya in Webuye, Kenya
 
Americas

2/98
African Ancestry in Southwest US

6/110
African Caribbean in Barbados

(No data)
Mexican Ancestry in Los Angeles, CA

2/140
Puerto Rican in Puerto Rico

1/96
Colombian in Medellin, Colombia

(No data)
Peruvian in Lima, Peru
South Asian

9/154
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/178
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