PDF

NM_000350:p.Leu1938Leu

ABCA4
NM_000350:c.5814A>G

Information

Variant Locale EXON41
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr1:94474328: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

1644/8600
European American Alternate Allele Count

1047/4406
African American Alternate Allele Count
1000 Genomes
European

19/132
Utah residents, Northern and Western European ancestry

16/122
Toscani in Italia

28/136
British from England and Scotland

30/162
Finnish from Finland

32/116
Iberian populations in Spain
 
East Asian

22/146
Han Chinese in Beijing, China

32/148
Japanese in Toyko, Japan

26/180
Han Chinese South

11/146
Chinese Dai in Xishuangbanna

32/116
Iberian populations in Spain

10/148
Kinh in Ho Chi Minh City, Vietnam
West African

42/162
Yoruba in Ibadan, Nigeria

14/48
Luhya in Webuye, Kenya
 
Americas

21/98
African Ancestry in Southwest US

22/110
African Caribbean in Barbados

23/116
Mexican Ancestry in Los Angeles, CA

34/140
Puerto Rican in Puerto Rico

25/96
Colombian in Medellin, Colombia

21/94
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/519
© 2011–2017 The Institute for Vision Research at The University of Iowa