Variant #0000477503 (NC_000006.11:g.64791763C>T, NM_001142800.1:c.6557G>A (EYS))

Individual ID 00233696
Chromosome 6
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.64791763C>T
DNA change (hg38) g.64081870C>T
Published as -
ISCN -
DB-ID EYS_000144 See all 51 reported entries
Variant remarks -
Reference PubMed: Koyanagi 2019, Journal: Koyanagi 2019
ClinVar ID -
dbSNP ID rs527236068
Origin Germline
Segregation -
Frequency 2/1198 cases with retinitis pigmentosa
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner Yoshito Koyanagi
Database submission license No license selected
Created by Yoshito Koyanagi
Date created 2019-05-03 15:11:26 +02:00 (CEST)
Date last edited 2025-03-10 08:18:23 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EYS NM_001142800.1 +/. - c.6557G>A r.(?) p.(Gly2186Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000234795 DNA SEQ-NG - - EYS 1 Yoshito Koyanagi


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