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NM_001023571:p.Leu192Leu

IQCB1
NM_001023571:c.574C>T

Information

Variant Locale EXON7
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr3:121526204: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

5368/8598
European American Alternate Allele Count

3117/4406
African American Alternate Allele Count
1000 Genomes
European

92/132
Utah residents, Northern and Western European ancestry

67/122
Toscani in Italia

90/136
British from England and Scotland

98/162
Finnish from Finland

67/116
Iberian populations in Spain
 
East Asian

48/146
Han Chinese in Beijing, China

42/148
Japanese in Toyko, Japan

45/180
Han Chinese South

41/146
Chinese Dai in Xishuangbanna

67/116
Iberian populations in Spain

61/148
Kinh in Ho Chi Minh City, Vietnam
West African

125/162
Yoruba in Ibadan, Nigeria

39/48
Luhya in Webuye, Kenya
 
Americas

78/98
African Ancestry in Southwest US

81/110
African Caribbean in Barbados

92/116
Mexican Ancestry in Los Angeles, CA

84/140
Puerto Rican in Puerto Rico

60/96
Colombian in Medellin, Colombia

79/94
Peruvian in Lima, Peru
South Asian

100/154
Gujarati Indian in Houston, TX
 
 

Published Data

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

http://vvd.eng.uiowa.edu/variant/1732
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