PDF

NM_014336:p.Leu100Leu

AIPL1
NM_014336:c.300A>G

Information

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

Call

Variation chr17:6331803:T>C
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

5669/8600
European American Alternate Allele Count

2203/4406
African American Alternate Allele Count
1000 Genomes
European

83/132
Utah residents, Northern and Western European ancestry

98/122
Toscani in Italia

95/136
British from England and Scotland

103/162
Finnish from Finland

85/116
Iberian populations in Spain
 
East Asian

78/146
Han Chinese in Beijing, China

79/148
Japanese in Toyko, Japan

97/180
Han Chinese South

74/146
Chinese Dai in Xishuangbanna

85/116
Iberian populations in Spain

82/148
Kinh in Ho Chi Minh City, Vietnam
West African

79/162
Yoruba in Ibadan, Nigeria

23/48
Luhya in Webuye, Kenya
 
Americas

52/98
African Ancestry in Southwest US

50/110
African Caribbean in Barbados

88/116
Mexican Ancestry in Los Angeles, CA

81/140
Puerto Rican in Puerto Rico

59/96
Colombian in Medellin, Colombia

73/94
Peruvian in Lima, Peru
South Asian

90/152
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes.

http://vvd.eng.uiowa.edu/variant/1425
© 2011–2017 The Institute for Vision Research at The University of Iowa