Variant #0000476533 (NC_000006.11:g.64431122G>T, NM_001142800.1:c.8805C>A (EYS))

Individual ID 00232726
Chromosome 6
Allele Unknown
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.64431122G>T
DNA change (hg38) g.63721226G>T
Published as -
ISCN -
DB-ID EYS_000066 See all 79 reported entries
Variant remarks -
Reference PubMed: Koyanagi 2019, Journal: Koyanagi 2019
ClinVar ID -
dbSNP ID rs527236067
Origin Germline
Segregation -
Frequency 64/1204 cases with retinitis pigmentosa
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-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 2019-07-24 12:27:23 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EYS NM_001142800.1 +/. - c.8805C>A r.(?) p.(Tyr2935*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000233825 DNA SEQ-NG - - EYS 1 Yoshito Koyanagi


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