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NM_024649:p.Met390Arg

BBS1
NM_024649:c.1169T>G

Information

Variant Locale EXON12
PubMed ID (no data)
dbSNP ID rs113624356

Call

Variation chr11:66293652:T>G
Pathogenicity Probable highly penetrant allele
Phenotype Bardet-Biedl syndrome

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Damaging Probably Damaging Unknown Unknown Conserved Conserved
0.04 0.606 2.023 4.47

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

23/8590
European American Alternate Allele Count

3/4400
African American Alternate Allele Count
1000 Genomes
European

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

2/122
Toscani in Italia

(No data)
British from England and Scotland

(No data)
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

1/96
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.

http://vvd.eng.uiowa.edu/variant/2151
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