PDF

NM_201548:p.Arg257Stop

CERKL
NM_201548:c.769C>T

Information

Variant Locale EXON5
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr2:182423344:G>A
Pathogenicity Probable highly penetrant allele
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Unknown Neutral Disease Causing (Automatic) Non-conserved Non-conserved
0.4 0.288007 1 -2.219 -11

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

5/8346
European American Alternate Allele Count

1/4046
African American Alternate Allele Count
1000 Genomes
European

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

(No data)
Toscani in Italia

(No data)
British from England and Scotland

(No data)
Finnish from Finland

1/78
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

1/78
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: ceramide kinase-like | Function description: Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions. | Disease description: Defects in CERKL are the cause of retinitis pigmentosa type 26 (RP26) [MIM:608380]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP26 inheritance is autosomal recessive.

http://vvd.eng.uiowa.edu/variant/1614
© 2011–2017 The Institute for Vision Research at The University of Iowa