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NM_001023571:p.Cys301Tyr

IQCB1
NM_001023571:c.902G>A

Information

Variant Locale EXON10
PubMed ID (no data)
dbSNP ID rs17849995

Call

Variation chr3:121500699:C>T
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Probably Damaging Deleterious Polymorphism Conserved Conserved
1 0.826 3e-06 0.251078 1.298 3.74

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

2057/8600
European American Alternate Allele Count

1026/4406
African American Alternate Allele Count
1000 Genomes
European

34/132
Utah residents, Northern and Western European ancestry

33/122
Toscani in Italia

33/136
British from England and Scotland

46/162
Finnish from Finland

24/116
Iberian populations in Spain
 
East Asian

23/146
Han Chinese in Beijing, China

20/148
Japanese in Toyko, Japan

21/180
Han Chinese South

20/146
Chinese Dai in Xishuangbanna

24/116
Iberian populations in Spain

38/148
Kinh in Ho Chi Minh City, Vietnam
West African

31/162
Yoruba in Ibadan, Nigeria

23/48
Luhya in Webuye, Kenya
 
Americas

23/98
African Ancestry in Southwest US

22/110
African Caribbean in Barbados

70/116
Mexican Ancestry in Los Angeles, CA

45/140
Puerto Rican in Puerto Rico

39/96
Colombian in Medellin, Colombia

68/94
Peruvian in Lima, Peru
South Asian

68/154
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes, 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/1726
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