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NM_018418:p.Val74Met

SPATA7
NM_018418:c.220G>A

Information

Variant Locale EXON4
PubMed ID (no data)
dbSNP ID rs3179969

Call

Variation chr14:88862529:G>A
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Polymorphism (Automatic) Non-conserved Conserved
1 0.001 0.355375 4e-06 -0.02 2.45

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

2948/8598
European American Alternate Allele Count

2396/4406
African American Alternate Allele Count
1000 Genomes
European

45/132
Utah residents, Northern and Western European ancestry

30/122
Toscani in Italia

37/136
British from England and Scotland

55/162
Finnish from Finland

27/116
Iberian populations in Spain
 
East Asian

52/146
Han Chinese in Beijing, China

46/148
Japanese in Toyko, Japan

66/180
Han Chinese South

57/146
Chinese Dai in Xishuangbanna

27/116
Iberian populations in Spain

66/148
Kinh in Ho Chi Minh City, Vietnam
West African

89/162
Yoruba in Ibadan, Nigeria

28/48
Luhya in Webuye, Kenya
 
Americas

47/98
African Ancestry in Southwest US

63/110
African Caribbean in Barbados

28/116
Mexican Ancestry in Los Angeles, CA

42/140
Puerto Rican in Puerto Rico

30/96
Colombian in Medellin, Colombia

28/94
Peruvian in Lima, Peru
South Asian

53/152
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes, dbNSFP 2. Additional info from dbNSFP 2 -- More dbSNP IDs: rs58922179, rs3179969 | 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/1345
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