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NM_181714:p.Gly656Asp

LCA5
NM_181714:c.1967G>A

Information

Variant Locale EXON9
PubMed ID (no data)
dbSNP ID rs1875845

Call

Variation chr6:80196848:C>T
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Polymorphism (Automatic) Non-conserved Conserved
1 0 0.022363 1.2e-05 0.909 4.38

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

2653/8598
European American Alternate Allele Count

2268/4406
African American Alternate Allele Count
1000 Genomes
European

47/132
Utah residents, Northern and Western European ancestry

25/122
Toscani in Italia

43/136
British from England and Scotland

40/162
Finnish from Finland

25/116
Iberian populations in Spain
 
East Asian

45/146
Han Chinese in Beijing, China

53/148
Japanese in Toyko, Japan

39/180
Han Chinese South

39/146
Chinese Dai in Xishuangbanna

25/116
Iberian populations in Spain

32/148
Kinh in Ho Chi Minh City, Vietnam
West African

90/162
Yoruba in Ibadan, Nigeria

31/48
Luhya in Webuye, Kenya
 
Americas

57/98
African Ancestry in Southwest US

58/110
African Caribbean in Barbados

46/116
Mexican Ancestry in Los Angeles, CA

51/140
Puerto Rican in Puerto Rico

29/96
Colombian in Medellin, Colombia

28/94
Peruvian in Lima, Peru
South Asian

27/154
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes, dbNSFP 2. Additional info from dbNSFP 2 -- More dbSNP IDs: rs52828917, rs58895262, rs1875845 | 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/2009
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