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NM_181714:p.Asp26Ala

LCA5
NM_181714:c.77A>C

Information

Variant Locale EXON3
PubMed ID (no data)
dbSNP ID rs34068461

Call

Variation chr6:80228535:T>G
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Damaging Benign Neutral Disease Causing Non-conserved Conserved
0.03 0.004 0.299945 0.678729 0.986 4.09

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

1559/8600
European American Alternate Allele Count

338/4406
African American Alternate Allele Count
1000 Genomes
European

29/132
Utah residents, Northern and Western European ancestry

12/122
Toscani in Italia

27/136
British from England and Scotland

25/162
Finnish from Finland

18/116
Iberian populations in Spain
 
East Asian

40/146
Han Chinese in Beijing, China

30/148
Japanese in Toyko, Japan

38/180
Han Chinese South

36/146
Chinese Dai in Xishuangbanna

18/116
Iberian populations in Spain

22/148
Kinh in Ho Chi Minh City, Vietnam
West African

7/162
Yoruba in Ibadan, Nigeria

7/48
Luhya in Webuye, Kenya
 
Americas

14/98
African Ancestry in Southwest US

8/110
African Caribbean in Barbados

31/116
Mexican Ancestry in Los Angeles, CA

25/140
Puerto Rican in Puerto Rico

22/96
Colombian in Medellin, Colombia

28/94
Peruvian in Lima, Peru
South Asian

16/154
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes, dbNSFP 2. Additional info from dbNSFP 2 -- Gene full name: Leber congenital amaurosis 5 | Function description: Might be involved in minus end-directed microtubule transport. | Disease description: Defects in LCA5 are the cause of Leber congenital amaurosis type 5 (LCA5) [MIM:604537]. 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/2017
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