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NM_018418:p.Gln255Stop

SPATA7
NM_018418:c.763C>T

Information

Variant Locale EXON6
PubMed ID (no data)
dbSNP ID (no data)

Call

Variation chr14:88892966:C>T
Pathogenicity Probable highly penetrant allele
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Unknown Neutral Disease Causing (Automatic) Conserved Conserved
0.1 0.028099 1 2.791 5.61

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

(No data)
European American Alternate Allele Count

(No data)
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

(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: dbNSFP 2. Additional info from dbNSFP 2 -- Gene full name: spermatogenesis associated 7 | Function description: May be involved in retinal function. | Disease description: Defects in SPATA7 are a cause of retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]. ARRP is a retinal dystrophy belonging to the group of pigmentary retinopathies. RP is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. 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.

http://vvd.eng.uiowa.edu/variant/1354
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