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NM_152443:p.Arg161Gln

RDH12
NM_152443:c.482G>A

Information

Variant Locale EXON7
PubMed ID (no data)
dbSNP ID rs17852293

Call

Variation chr14:68193731:G>A
Pathogenicity Benign
Phenotype

Interpretation

In Silico Computational

SIFT Polyphen-2 LRT MutationTaster PhyloP GERP++
Tolerated Benign Neutral Disease Causing Non-conserved Conserved
0.34 0.154 0.000444 0.629027 -0.123 0.738

Variant Frequencies

OtoSCOPE™

(No data)
Alternate Allele Count
Exome Variant Server

1135/8600
European American Alternate Allele Count

421/4406
African American Alternate Allele Count
1000 Genomes
European

15/132
Utah residents, Northern and Western European ancestry

12/122
Toscani in Italia

16/134
British from England and Scotland

26/162
Finnish from Finland

14/116
Iberian populations in Spain
 
East Asian

15/146
Han Chinese in Beijing, China

14/148
Japanese in Toyko, Japan

21/180
Han Chinese South

18/146
Chinese Dai in Xishuangbanna

14/116
Iberian populations in Spain

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

13/162
Yoruba in Ibadan, Nigeria

4/48
Luhya in Webuye, Kenya
 
Americas

9/98
African Ancestry in Southwest US

10/110
African Caribbean in Barbados

14/116
Mexican Ancestry in Los Angeles, CA

17/140
Puerto Rican in Puerto Rico

9/96
Colombian in Medellin, Colombia

27/94
Peruvian in Lima, Peru
South Asian

16/152
Gujarati Indian in Houston, TX
 
 

Published Data

Manual curation in progress. Record generated from: ESP6500, 1000 Genomes, dbNSFP 2. Additional info from dbNSFP 2 -- Gene full name: retinol dehydrogenase 12 (all-trans/9-cis/11-cis) | Function description: Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity toward 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected. Might be the key enzyme in the formation of 11-cis-retinal from 11-cis-retinol during regeneration of the cone visual pigments. | Disease description: Defects in RDH12 are the cause of retinitis pigmentosa type 53 (RP53) [MIM:612712]. RP53 is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa 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/1320
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