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NM_014336:p.Cys89Cys

AIPL1
NM_014336:c.267C>T

Information

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

Call

Variation chr17:6337248:G>A
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Unknown Unknown Unknown Unknown Unknown Unknown

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

41/8600
European American Alternate Allele Count

6/4406
African American Alternate Allele Count
1000 Genomes
European

1/132
Utah residents, Northern and Western European ancestry

(No data)
Toscani in Italia

1/136
British from England and Scotland

(No data)
Finnish from Finland

2/116
Iberian populations in Spain
 
East Asian

(No data)
Han Chinese in Beijing, China

(No data)
Japanese in Toyko, Japan

1/180
Han Chinese South

(No data)
Chinese Dai in Xishuangbanna

2/116
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

1/116
Mexican Ancestry in Los Angeles, CA

(No data)
Puerto Rican in Puerto Rico

(No data)
Colombian in Medellin, Colombia

1/94
Peruvian in Lima, Peru
South Asian

1/152
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500.

http://vvd.eng.uiowa.edu/variant/1431
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