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NM_000350:p.Ile2083Ile

ABCA4
NM_000350:c.6249C>T

Information

Variant Locale EXON45
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr1:94467447: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

583/8600
European American Alternate Allele Count

1316/4406
African American Alternate Allele Count
1000 Genomes
European

6/132
Utah residents, Northern and Western European ancestry

12/122
Toscani in Italia

11/136
British from England and Scotland

6/162
Finnish from Finland

9/116
Iberian populations in Spain
 
East Asian

7/146
Han Chinese in Beijing, China

7/148
Japanese in Toyko, Japan

13/180
Han Chinese South

17/146
Chinese Dai in Xishuangbanna

9/116
Iberian populations in Spain

8/148
Kinh in Ho Chi Minh City, Vietnam
West African

51/162
Yoruba in Ibadan, Nigeria

16/48
Luhya in Webuye, Kenya
 
Americas

31/98
African Ancestry in Southwest US

36/110
African Caribbean in Barbados

5/116
Mexican Ancestry in Los Angeles, CA

15/140
Puerto Rican in Puerto Rico

6/96
Colombian in Medellin, Colombia

1/94
Peruvian in Lima, Peru
South Asian

14/154
Gujarati Indian in Houston, TX
 
 

Published Data

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

http://vvd.eng.uiowa.edu/variant/488
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