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NM_183059:p.Arg47Cys

RD3
NM_183059:c.139C>T

Information

Variant Locale EXON2
PubMed ID (no data)
dbSNP ID rs34049451

Call

Variation chr1:211654619:G>A
Pathogenicity
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Damaging Probably Damaging Deleterious Polymorphism Conserved Conserved
0 1 2.3e-05 0.448902 2.395 3.8

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

119/8600
European American Alternate Allele Count

12/4406
African American Alternate Allele Count
1000 Genomes
European

2/132
Utah residents, Northern and Western European ancestry

4/122
Toscani in Italia

3/136
British from England and Scotland

1/162
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

(No data)
Yoruba in Ibadan, Nigeria

(No data)
Luhya in Webuye, Kenya
 
Americas

(No data)
African Ancestry in Southwest US

(No data)
African Caribbean in Barbados

(No data)
Mexican Ancestry in Los Angeles, CA

(No data)
Puerto Rican in Puerto Rico

3/96
Colombian in Medellin, Colombia

(No data)
Peruvian in Lima, Peru
South Asian

1/154
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, dbNSFP 2. Additional info from dbNSFP 2 -- Gene full name: retinal degeneration 3 | Disease description: Defects in RD3 are the cause of Leber congenital amaurosis type 12 (LCA12) [MIM:610612]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children.

http://vvd.eng.uiowa.edu/variant/174
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