PDF

NM_001023571:p.Asn384Tyr

IQCB1
NM_001023571:c.1150A>T

Information

Variant Locale EXON11
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr3:121491422:T>A
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Damaging Probably Damaging Deleterious Polymorphism Conserved Conserved
0 0.995 0.000712 0.375584 2.074 4.98

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

20/8600
European American Alternate Allele Count

1/4406
African American Alternate Allele Count
1000 Genomes
European

(No data)
Utah residents, Northern and Western European ancestry

(No data)
Toscani in Italia

1/136
British from England and Scotland

3/162
Finnish from Finland

(No data)
Iberian populations in Spain
 
East Asian

(No data)
Han Chinese in Beijing, China

(No data)
Japanese in Toyko, Japan

(No data)
Han Chinese South

(No data)
Chinese Dai in Xishuangbanna

(No data)
Iberian populations in Spain

(No data)
Kinh in Ho Chi Minh City, Vietnam
West African

(No data)
Yoruba in Ibadan, Nigeria

(No data)
Luhya in Webuye, Kenya
 
Americas

(No data)
African Ancestry in Southwest US

(No data)
African Caribbean in Barbados

(No data)
Mexican Ancestry in Los Angeles, CA

(No data)
Puerto Rican in Puerto Rico

(No data)
Colombian in Medellin, Colombia

(No data)
Peruvian in Lima, Peru
South Asian

(No data)
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, dbNSFP 2. Additional info from dbNSFP 2 -- Gene full name: IQ motif containing B1 | Function description: Involved in ciliogenesis (By similarity). | Disease description: Defects in IQCB1 are the cause of Senior-Loken syndrome type 5 (SLSN5) [MIM:609254]. SLSN is a renal-retinal disorder, characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life.

http://vvd.eng.uiowa.edu/variant/1717
© 2011–2017 The Institute for Vision Research at The University of Iowa