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NM_006269:p.Asn985Tyr

RP1
NM_006269:c.2953A>T

Information

Variant Locale EXON4
PubMed ID (no data)
dbSNP ID rs2293869

Call

Variation chr8:55539395:A>T
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Damaging Probably Damaging Neutral Polymorphism (Automatic) Non-conserved Conserved
0 0.981 0.038456 0.12862 0.093 1.94

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

3584/8600
European American Alternate Allele Count

944/4406
African American Alternate Allele Count
1000 Genomes
European

63/132
Utah residents, Northern and Western European ancestry

55/122
Toscani in Italia

60/136
British from England and Scotland

60/162
Finnish from Finland

40/116
Iberian populations in Spain
 
East Asian

11/146
Han Chinese in Beijing, China

17/148
Japanese in Toyko, Japan

10/180
Han Chinese South

6/146
Chinese Dai in Xishuangbanna

40/116
Iberian populations in Spain

11/148
Kinh in Ho Chi Minh City, Vietnam
West African

28/162
Yoruba in Ibadan, Nigeria

10/48
Luhya in Webuye, Kenya
 
Americas

19/98
African Ancestry in Southwest US

20/110
African Caribbean in Barbados

22/116
Mexican Ancestry in Los Angeles, CA

57/140
Puerto Rican in Puerto Rico

29/96
Colombian in Medellin, Colombia

12/94
Peruvian in Lima, Peru
South Asian

48/154
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: rs52800054, rs2293869 | Gene full name: retinitis pigmentosa 1 (autosomal dominant) | Function description: Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of photoreceptors. Required for the differentiation of photoreceptor cells, it plays a role in the organization of the outer segment of rod and cone photoreceptors ensuring the correct orientation and higher order stacking of outer segment disks along the photoreceptor axoneme (By similarity). | Disease description: Defects in RP1 are the cause of retinitis pigmentosa type 1 (RP1) [MIM:180100]. 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.

http://vvd.eng.uiowa.edu/variant/2022
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