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NM_014336:p.Trp72Ser

AIPL1
NM_014336:c.215G>C

Information

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

Call

Variation chr17:6337300:C>G
Pathogenicity Probable highly penetrant allele
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Probably Damaging Deleterious Disease Causing Conserved Conserved
0.43 1 0 0.996734 2.323 5.05

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

(No data)
European American Alternate Allele Count

(No data)
African American Alternate Allele Count
1000 Genomes
European

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

(No data)
Toscani in Italia

(No data)
British from England and Scotland

(No data)
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

(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: dbNSFP 2. Additional info from dbNSFP 2 -- 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/1438
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