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NM_001023571:p.Arg302Cys

IQCB1
NM_001023571:c.904C>T

Information

Variant Locale EXON10
PubMed ID (no data)
dbSNP ID rs11920543

Call

Variation chr3:121500697:G>A
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Damaging Probably Damaging Deleterious Polymorphism (Automatic) Conserved Conserved
0 1 0.000719 0.841004 2.548 4.61

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

128/8600
European American Alternate Allele Count

12/4406
African American Alternate Allele Count
1000 Genomes
European

1/132
Utah residents, Northern and Western European ancestry

(No data)
Toscani in Italia

(No data)
British from England and Scotland

11/162
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

1/140
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 -- More dbSNP IDs: rs52793008, rs11920543 | 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/1724
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