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NM_206933:p.Lys2080Asn

USH2A
NM_206933:c.6240G>T

Information

Variant Locale EXON32
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr1:216219858:C>A
Pathogenicity Possible highly penetrant allele
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Possibly Damaging Neutral Polymorphism Non-conserved Conserved
0.3 0.883 0.157149 0.008297 -0.059 0.708

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

80/8600
European American Alternate Allele Count

50/4406
African American Alternate Allele Count
1000 Genomes
European

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

1/122
Toscani in Italia

1/136
British from England and Scotland

(No data)
Finnish from Finland

1/116
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

1/116
Iberian populations in Spain

(No data)
Kinh in Ho Chi Minh City, Vietnam
West African

(No data)
Yoruba in Ibadan, Nigeria

(No data)
Luhya in Webuye, Kenya
 
Americas

(No data)
African Ancestry in Southwest US

2/110
African Caribbean in Barbados

(No data)
Mexican Ancestry in Los Angeles, CA

1/140
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, 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/250
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