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NM_018418:p.Asp2Asn

SPATA7
NM_018418:c.4G>A

Information

Variant Locale EXON1
PubMed ID (no data)
dbSNP ID rs4904448

Call

Variation chr14:88852166:G>A
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Possibly Damaging Neutral Polymorphism (Automatic) Non-conserved Conserved
0.07 0.015 0.825115 0.051218 0.436 2.23

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

3358/8580
European American Alternate Allele Count

466/4396
African American Alternate Allele Count
1000 Genomes
European

52/128
Utah residents, Northern and Western European ancestry

41/118
Toscani in Italia

57/130
British from England and Scotland

75/162
Finnish from Finland

57/116
Iberian populations in Spain
 
East Asian

10/146
Han Chinese in Beijing, China

4/148
Japanese in Toyko, Japan

9/180
Han Chinese South

2/146
Chinese Dai in Xishuangbanna

57/116
Iberian populations in Spain

9/148
Kinh in Ho Chi Minh City, Vietnam
West African

3/162
Yoruba in Ibadan, Nigeria

1/48
Luhya in Webuye, Kenya
 
Americas

7/94
African Ancestry in Southwest US

8/110
African Caribbean in Barbados

26/110
Mexican Ancestry in Los Angeles, CA

43/138
Puerto Rican in Puerto Rico

22/94
Colombian in Medellin, Colombia

14/94
Peruvian in Lima, Peru
South Asian

43/152
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: rs17808075, rs56439463, rs59975682, rs4904448 | 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/1344
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