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NM_000350:p.Ile2023Ile

ABCA4
NM_000350:c.6069T>C

Information

Variant Locale EXON44
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr1:94471075:A>G
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

8026/8600
European American Alternate Allele Count

2063/4406
African American Alternate Allele Count
1000 Genomes
European

125/132
Utah residents, Northern and Western European ancestry

111/122
Toscani in Italia

125/136
British from England and Scotland

155/162
Finnish from Finland

108/116
Iberian populations in Spain
 
East Asian

132/146
Han Chinese in Beijing, China

135/148
Japanese in Toyko, Japan

158/180
Han Chinese South

123/146
Chinese Dai in Xishuangbanna

108/116
Iberian populations in Spain

136/148
Kinh in Ho Chi Minh City, Vietnam
West African

56/162
Yoruba in Ibadan, Nigeria

16/48
Luhya in Webuye, Kenya
 
Americas

50/98
African Ancestry in Southwest US

43/110
African Caribbean in Barbados

108/116
Mexican Ancestry in Los Angeles, CA

115/140
Puerto Rican in Puerto Rico

88/96
Colombian in Medellin, Colombia

89/94
Peruvian in Lima, Peru
South Asian

140/154
Gujarati Indian in Houston, TX
 
 

Published Data

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

http://vvd.eng.uiowa.edu/variant/503
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