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NM_000350:p.His423His

ABCA4
NM_000350:c.1269C>T

Information

Variant Locale EXON10
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr1:94544233: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

645/8600
European American Alternate Allele Count

585/4406
African American Alternate Allele Count
1000 Genomes
European

10/132
Utah residents, Northern and Western European ancestry

6/122
Toscani in Italia

12/136
British from England and Scotland

9/162
Finnish from Finland

10/116
Iberian populations in Spain
 
East Asian

19/146
Han Chinese in Beijing, China

26/148
Japanese in Toyko, Japan

28/180
Han Chinese South

16/146
Chinese Dai in Xishuangbanna

10/116
Iberian populations in Spain

18/148
Kinh in Ho Chi Minh City, Vietnam
West African

27/162
Yoruba in Ibadan, Nigeria

9/48
Luhya in Webuye, Kenya
 
Americas

11/98
African Ancestry in Southwest US

15/110
African Caribbean in Barbados

7/116
Mexican Ancestry in Los Angeles, CA

20/140
Puerto Rican in Puerto Rico

14/96
Colombian in Medellin, Colombia

11/94
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/797
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