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NM_014336:p.Asp90His

AIPL1
NM_014336:c.268G>C

Information

Variant Locale EXON2
PubMed ID (no data)
dbSNP ID rs12449580

Call

Variation chr17:6337247:C>G
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Deleterious Polymorphism (Automatic) Conserved Conserved
0.45 0.069 2e-06 0.949334 2.323 4.03

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

1768/8600
European American Alternate Allele Count

383/4406
African American Alternate Allele Count
1000 Genomes
European

23/132
Utah residents, Northern and Western European ancestry

36/122
Toscani in Italia

27/136
British from England and Scotland

35/162
Finnish from Finland

31/116
Iberian populations in Spain
 
East Asian

55/146
Han Chinese in Beijing, China

53/148
Japanese in Toyko, Japan

68/180
Han Chinese South

43/146
Chinese Dai in Xishuangbanna

31/116
Iberian populations in Spain

40/148
Kinh in Ho Chi Minh City, Vietnam
West African

12/162
Yoruba in Ibadan, Nigeria

1/48
Luhya in Webuye, Kenya
 
Americas

6/98
African Ancestry in Southwest US

5/110
African Caribbean in Barbados

23/116
Mexican Ancestry in Los Angeles, CA

26/140
Puerto Rican in Puerto Rico

19/96
Colombian in Medellin, Colombia

14/94
Peruvian in Lima, Peru
South Asian

14/152
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: rs17202007, rs52790044, rs56554925, rs12449580 | Gene full name: aryl hydrocarbon receptor interacting protein-like 1 | Function description: May be important in protein trafficking and/or protein folding and stabilization. | Disease description: Defects in AIPL1 are the cause of Leber congenital amaurosis type 4 (LCA4) [MIM:604393]. 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/1430
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