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NM_000350:p.Pro47Pro

ABCA4
NM_000350:c.141A>G

Information

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

Call

Variation chr1:94578548: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

8599/8600
European American Alternate Allele Count

4247/4406
African American Alternate Allele Count
1000 Genomes
European

132/132
Utah residents, Northern and Western European ancestry

122/122
Toscani in Italia

136/136
British from England and Scotland

162/162
Finnish from Finland

116/116
Iberian populations in Spain
 
East Asian

146/146
Han Chinese in Beijing, China

148/148
Japanese in Toyko, Japan

180/180
Han Chinese South

146/146
Chinese Dai in Xishuangbanna

116/116
Iberian populations in Spain

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

156/162
Yoruba in Ibadan, Nigeria

45/48
Luhya in Webuye, Kenya
 
Americas

94/98
African Ancestry in Southwest US

106/110
African Caribbean in Barbados

116/116
Mexican Ancestry in Los Angeles, CA

138/140
Puerto Rican in Puerto Rico

95/96
Colombian in Medellin, Colombia

94/94
Peruvian in Lima, Peru
South Asian

154/154
Gujarati Indian in Houston, TX
 
 

Published Data

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

http://vvd.eng.uiowa.edu/variant/869
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